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:
expand
Muscular Dystrophies (D009136)
..Starting node
..expand
Distal Myopathies (D049310)

       Child Nodes:
........expandDistal myopathy, Nonaka type (C536816)
........expandJankovic Rivera syndrome (C537563)
........expandMiyoshi Muscular Dystrophy 2 (C567646)
........expandMiyoshi Muscular Dystrophy 3 (C567645)
........expandMiyoshi myopathy (C537480)
........expandMyopathy, Distal 2 (C565262)
........expandMyopathy, Distal 3 (C566445)
........expandMYOPATHY, DISTAL, 4 (OMIM:614065)
........expandMYOPATHY, DISTAL, 5 (OMIM:617030)
........expandMYOPATHY, DISTAL, TATEYAMA TYPE (OMIM:614321)
........expandMyopathy, Distal, with Anterior Tibial Onset (C564664)
........expandMyopathy, Distal, With Early Respiratory Failure, Autosomal Dominant (C564377)
........expandMyopathy, Distal, with Onset in Infancy (C563543)
........expandWelander distal myopathy, Swedish type (C536690)



 Sister Nodes: 
..expandAlpha-B Crystallinopathy with Cataract (C563849)
..expandAmino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960)
..expandBassoe syndrome (C537661)
..expandBethlem myopathy (C535436)
..expandDistal Myopathies (D049310) Child11
..expandFilaminopathy, autosomal dominant (C537932)
..expandGlycogen Storage Disease Type VII (D006014)
..expandMuscular Dystrophies, Limb-Girdle (D049288) Child33
..expandMuscular dystrophy congenital, merosin negative (C537384)
..expandMuscular Dystrophy, Adult-Onset, with Leukoencephalopathy (C565361)
..expandMuscular Dystrophy, Barnes Type (C563558)
..expandMuscular Dystrophy, Cardiac Type (C563247)
..expandMuscular Dystrophy, Congenital, 1B (C565748)
..expandMuscular Dystrophy, Congenital, 1C (C564691)
..expandMuscular Dystrophy, Congenital, associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation (C565506)
..expandMuscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency (C567709)
..expandMuscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency (C564317)
..expandMuscular dystrophy, congenital, infantile with cataract and hypogonadism (C537385)
..expandMuscular Dystrophy, Congenital, Lmna-Related (C567708)
..expandMuscular Dystrophy, Congenital, Megaconial Type (C566527)  LSDB  L: 00415;
..expandMuscular Dystrophy, Congenital, Merosin-Positive (C563716)
..expandMuscular Dystrophy, Congenital, plus Mental Retardation (C565505)
..expandMuscular Dystrophy, Congenital, Producing Arthrogryposis (C564985)
..expandMuscular Dystrophy, Congenital, Type 1D (C563844)
..expandMuscular Dystrophy, Congenital, With Cerebellar Atrophy (C566392)
..expandMuscular Dystrophy, Congenital, with Rapid Progression (C564983)
..expandMuscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers (C563378)
..expandMuscular Dystrophy, Duchenne (D020388) Child1
..expandMuscular Dystrophy, Emery-Dreifuss (D020389) Child10
..expandMuscular Dystrophy, Facioscapulohumeral (D020391) Child4
..expandMuscular Dystrophy, Mabry Type (C564096)
..expandMuscular Dystrophy, Oculopharyngeal (D039141) Child1
..expandMuscular Dystrophy, Progressive Pectorodorsal (C564095)
..expandMuscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries (C563554)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 (OMIM:613155)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 (OMIM:613156)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 (OMIM:613151)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 (OMIM:608840)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 (OMIM:606612)
..expandMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 (OMIM:613152)
..expandMyopathy with Abnormal Lipid Metabolism (C562935)
..expandMyopathy, Myofibrillar, Desmin-Related (C563319)
..expandMyopathy, Myofibrillar, Zasp-Related (C563718)
..expandMYOPATHY, SCAPULOHUMEROPERONEAL (OMIM:616852)
..expandMyotonic Dystrophy (D009223) Child1
..expandOculopharyngodistal Myopathy (C563508)
..expandRigid spine syndrome (C535683)
..expandScleroatonic muscular dystrophy (C537521)
..expandVacuolar Neuromyopathy (C566617)
..expandWalker-Warburg Syndrome (D058494) Child7
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:3771
Name:Distal Myopathies
Definition:A heterogeneous group of genetic disorders characterized by progressive MUSCULAR ATROPHY and MUSCLE WEAKNESS beginning in the hands, the legs, or the feet. Most are adult-onset autosomal dominant forms. Others are autosomal recessive.
Alternative IDs:DO:DOID:0111078|DO:DOID:11720|OMIM:160500|OMIM:600334
ParentIDs:MESH:D009136
TreeNumbers:C05.651.534.500.074 |C10.668.491.175.500.074 |C16.320.577.074
Synonyms:Distal 1 Myopathies |Distal 1 Myopathy |Distal Muscular Dystrophies |Distal Muscular Dystrophy |Distal Myopathy |Distal Myopathy 1 |Distal Myopathy 1s |Distal Myopathy, Laing |Distal Myopathy Markesbery Griggs Type |Distal Myopathy Markesbery-Griggs Type |Distal M
Slim Mappings:Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease
Reference: MedGen: D049310
MeSH: D049310
OMIM: 600334;
MSeqDR LSDB:  
Genes: MYH7; TTN;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003581Adult onset
3 HP:0003458EMG: myopathic abnormalities
4 HP:0003829Incomplete penetrance
5 HP:0003560Muscular dystrophy
NAMDC:  Likely HP:0003560 Muscular dystrophy
6 HP:0003805Rimmed vacuoles
7 HP:0003677Slow progression
8 HP:0003376Steppage gait
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001267550.2(TTN):c.*1015A>G7273TTNConflicting interpretations of pathogenicity72629798RCV000304918|RCV000335175|RCV000341090|RCV000374509|RCV000396057; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21793907241793907242:g.179390724T>CClinGen:CA10612987CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.*968T>C7273TTNUncertain significance772669140RCV000270952|RCV000308628|RCV000314406|RCV000371249|RCV000399533; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21793907711793907712:g.179390771A>GClinGen:CA10611590CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.*913C>A7273TTNUncertain significance886055213RCV000285761|RCV000284742|RCV000324368|RCV000346762|RCV000394969|RCV002480180; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,21793908261793908262:g.179390826G>TClinGen:CA10612988CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.*664G>T7273TTNBenign/Likely benign72629796RCV000288260|RCV000314803|RCV000367155|RCV000399516|RCV000401470|RCV001618586; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MON21793910751793910752:g.179391075C>AClinGen:CA10613195CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.*636T>G7273TTNUncertain significance886055214RCV000268052|RCV000299276|RCV000317295|RCV000356405|RCV000360350; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21793911031793911032:g.179391103A>CClinGen:CA10612989CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.*633C>T7273TTNUncertain significance1242028803RCV001131137|RCV001130414|RCV001131136|RCV001131138|RCV001131139; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orph21793911061793911062:g.179391106G>A-
NM_001267550.2(TTN):c.*587T>A7273TTNConflicting interpretations of pathogenicity114788736RCV000297685|RCV000337437|RCV000352395|RCV000394247|RCV000402321|RCV001836806; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21793911521793911522:g.179391152A>TClinGen:CA10613196CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.*504G>A7273TTNUncertain significance957184446RCV001134094|RCV001134093|RCV001135601|RCV001135599|RCV001135600; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,O21793912351793912352:g.179391235C>T-
NM_001267550.2(TTN):c.*280A>G7273TTNConflicting interpretations of pathogenicity549242855RCV000265278|RCV000305997|RCV000308695|RCV000354877|RCV000358469; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21793914591793914592:g.179391459T>CClinGen:CA10611997CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.*274G>A7273TTNUncertain significance886055215RCV000277942|RCV000326111|RCV000330724|RCV000365665|RCV000388713; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,21793914651793914652:g.179391465C>TClinGen:CA10613200CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.*197C>G7273TTNUncertain significance886055216RCV000281265|RCV000338693|RCV000341964|RCV000372388|RCV000387575; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,21793915421793915422:g.179391542G>CClinGen:CA10613202CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.*183A>G7273TTNUncertain significance534998626RCV001131253|RCV001131252|RCV001131254|RCV001131250|RCV001131251; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MON21793915561793915562:g.179391556T>C-
NM_001267550.2(TTN):c.*141T>G7273TTNUncertain significance781617834RCV001131255|RCV001134219|RCV001134218|RCV001134220|RCV001134217|RCV002497543; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21793915981793915982:g.179391598A>C-
NM_001267550.2(TTN):c.*130G>C7273TTNBenign/Likely benign144026962RCV000302123|RCV000310465|RCV000340708|RCV000362934|RCV000398492; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21793916091793916092:g.179391609C>GClinGen:CA10611999CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.*59G>A7273TTNConflicting interpretations of pathogenicity72629795RCV000259324|RCV000286734|RCV000316779|RCV000339369|RCV000378394; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21793916801793916802:g.179391680C>TClinGen:CA10612995CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.*25C>T7273TTNConflicting interpretations of pathogenicity370597649RCV000290362|RCV000307898|RCV000351030|RCV000347387|RCV000395233; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,21793917141793917142:g.179391714G>AClinGen:CA1984847CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.*6C>A7273TTNConflicting interpretations of pathogenicity188728343RCV000261191|RCV000301130|RCV000311618|RCV000353633|RCV000399616|RCV000435138|RCV001726128; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21793917331793917332:g.179391733G>TClinGen:CA1984851CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.107892_107897del (p.Gln35964_Gly35966delinsHis)7273TTNPathogenic281864933RCV000031997; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:60921793918181793918232:g.179391818_179391823delClinGen:CA343096C1838244 600334 Distal myopathy Markesbery-Griggs type;
NM_001267550.2(TTN):c.107890C>T (p.Gln35964Ter)7273TTNUncertain significance281864929RCV000031996|RCV003234934; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MedGen:CN16937421793918251793918252:g.179391825G>AClinGen:CA343092C1838244 600334 Distal myopathy Markesbery-Griggs type;
NM_001267550.2(TTN):c.107889del (p.Lys35963fs)7273TTNPathogenic281864930RCV000031995|RCV000184369|RCV000844994|RCV001004988|RCV001216397|RCV002415440|RCV002496487|RCV003234933|RCV003328160; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C185872179391826179391826NC_000002.11:g.179391828delClinGen:CA309464C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro)7273TTNLikely pathogenic267607156RCV000013489|RCV001378935|RCV001781256; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:CN51720221793918481793918482:g.179391848A>GClinGen:CA341209,OMIM:188840.0005C1838244 600334 Distal myopathy Markesbery-Griggs type;
NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn)7273TTNPathogenic/Likely pathogenic281864928RCV000013490|RCV001319595; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:14092221793918751793918752:g.179391875A>TClinGen:CA341213,OMIM:188840.0006C1838244 600334 Distal myopathy Markesbery-Griggs type;
NM_001267550.2(TTN):c.107840T>C (p.Ile35947Thr)7273TTNUncertain significance281864928RCV000049799|RCV001061853|RCV003137590; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:CN51720221793918751793918752:g.179391875A>GClinGen:CA263860C1838244 600334 Distal myopathy Markesbery-Griggs type;
NM_001267550.2(TTN):c.107837A>C (p.His35946Pro)7273TTNnot provided281864931RCV000031994; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:60921793918781793918782:g.179391878T>GClinGen:CA343088C1838244 600334 Distal myopathy Markesbery-Griggs type;
NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys)7273TTNPathogenic281864927RCV000013487|RCV000013488|RCV000406890|RCV000700718|RCV002496344; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp2179391925179391935NC_000002.11:g.179391925_179391935delinsTTTTTCTTTCAClinGen:CA122613,OMIM:188840.0004C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.107766T>C (p.Gly35922=)7273TTNConflicting interpretations of pathogenicity147293964RCV000039844|RCV000245995|RCV000464935|RCV001131348|RCV001131347|RCV001131346|RCV001134349|RCV001134350|RCV001528464; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C186359921793919491793919492:g.179391949A>GClinGen:CA138647CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.107681-46T>A7273TTNBenign16866373RCV000251463|RCV001711738|RCV001840439|RCV001840436|RCV001840437|RCV001840438; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C186321793920801793920802:g.179392080A>TClinGen:CA1984904CN169374 not specified;
NM_001267550.2(TTN):c.107647del (p.Ser35883fs)7273TTNPathogenic281864932RCV000031998; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:60921793922061793922062:g.179392206_179392206delClinGen:CA343100C1838244 600334 Distal myopathy Markesbery-Griggs type;
NM_001267550.2(TTN):c.107377+14C>T7273TTNConflicting interpretations of pathogenicity367908657RCV000154867|RCV000305717|RCV000335428|RCV000359693|RCV000394286|RCV000400621|RCV001812132|RCV002056064; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673621793929871793929872:g.179392987G>AClinGen:CA181556CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.107181C>G (p.Gly35727=)7273TTNConflicting interpretations of pathogenicity762859509RCV001134478|RCV001134480|RCV001134476|RCV001134477|RCV001134479|RCV001531496|RCV002070571; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21793932971793932972:g.179393297G>C-
NM_001267550.2(TTN):c.106996C>G (p.Gln35666Glu)7273TTNUncertain significance750660824RCV000278220|RCV000295910|RCV000332133|RCV000337847|RCV000372746|RCV003137933; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,21793934821793934822:g.179393482G>CClinGen:CA1985014CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.106926C>T (p.Gly35642=)7273TTNConflicting interpretations of pathogenicity761965591RCV000304393|RCV000345257|RCV000339047|RCV000396160|RCV000396167|RCV001405894|RCV002411225; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21793935521793935522:g.179393552G>AClinGen:CA1985024CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.106876T>G (p.Leu35626Val)7273TTNConflicting interpretations of pathogenicity373152640RCV000154868|RCV001136023|RCV001136025|RCV001136024|RCV001136021|RCV001136022|RCV002415661; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,21793936021793936022:g.179393602A>CClinGen:CA181557CN169374 not specified;
NM_001267550.2(TTN):c.106820C>T (p.Ala35607Val)7273TTNConflicting interpretations of pathogenicity377337528RCV000155820|RCV000260975|RCV000262328|RCV000322180|RCV000316313|RCV000375521|RCV000542437|RCV000726570|RCV002415668|RCV003149949; NMedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,21793936581793936582:g.179393658G>AClinGen:CA183576C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln)7273TTNConflicting interpretations of pathogenicity199632397RCV000172600|RCV000222652|RCV000246902|RCV000266285|RCV000266936|RCV000301237|RCV000321269|RCV000380571|RCV000469383|RCV000622328|RCV000769843|RCV001563645|RCV003430722; NMedGen:C3661900|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:001121793938031793938032:g.179393803C>GClinGen:CA302594CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr)7273TTNBenign/Likely benign55880440RCV000040979|RCV000254200|RCV000278314|RCV000302770|RCV000337941|RCV000394709|RCV000394727|RCV000474247|RCV001528452|RCV001798215; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C183734221793938591793938592:g.179393859A>GClinGen:CA284392CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val)7273TTNConflicting interpretations of pathogenicity55725279RCV000040978|RCV000172601|RCV000269028|RCV000328741|RCV000363681|RCV000357546|RCV000400183|RCV000621595|RCV001082037; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,21793938981793938982:g.179393898T>AClinGen:CA141752CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.106578T>A (p.Ser35526=)7273TTNConflicting interpretations of pathogenicity55838839RCV000040977|RCV000275025|RCV000295013|RCV000317386|RCV000330150|RCV000364730|RCV000462969|RCV000621207|RCV001091785; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp2179393900179393900ClinGen:CA284387
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=)7273TTNBenign/Likely benign6725673RCV000040975|RCV000248168|RCV000284294|RCV000282234|RCV000337288|RCV000371991|RCV000405721|RCV000769845|RCV001080367|RCV001529837|RCV002477127; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C18582179394742179394742ClinGen:CA284375
NM_001267550.2(TTN):c.106343G>A (p.Arg35448Gln)7273TTNConflicting interpretations of pathogenicity369703073RCV000172148|RCV001132849|RCV001132848|RCV001132850|RCV001347072|RCV001132847|RCV001136253; NMedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orp21793949991793949992:g.179394999C>TClinGen:CA302375CN517202 not provided;
NM_001267550.2(TTN):c.106275G>C (p.Gly35425=)7273TTNBenign/Likely benign56207956RCV000040973|RCV000245914|RCV000261378|RCV000318880|RCV000331990|RCV000370354|RCV000375781|RCV001511070; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C267367721793950671793950672:g.179395067C>GClinGen:CA284370CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.106267G>T (p.Val35423Phe)7273TTNUncertain significance763752622RCV000185131|RCV001129284|RCV001129280|RCV001129282|RCV001129281|RCV001129283|RCV003137749; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,21793950751793950752:g.179395075C>AClinGen:CA311255CN169374 not specified;
NM_001267550.2(TTN):c.106066G>A (p.Glu35356Lys)7273TTNUncertain significance886055218RCV000264863|RCV000287403|RCV000322508|RCV000379489|RCV000382460|RCV001349624|RCV003137935; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21793952761793952762:g.179395276C>TClinGen:CA10611592CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.106020T>C (p.Gly35340=)7273TTNConflicting interpretations of pathogenicity148865574RCV000290412|RCV000313097|RCV000347759|RCV000396464|RCV000396451|RCV000533314|RCV001558153; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MON21793953221793953222:g.179395322A>GClinGen:CA1985178C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.105897G>C (p.Glu35299Asp)7273TTNUncertain significance886055219RCV000261720|RCV000265122|RCV000297754|RCV000300611|RCV000357728|RCV002521342; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21793954451793954452:g.179395445C>GClinGen:CA10612002CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.105787G>T (p.Ala35263Ser)7273TTNBenign/Likely benign67254537RCV000040970|RCV000247062|RCV001129385|RCV001136378|RCV001136379|RCV001136380|RCV001136381|RCV001529815; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C186359921793955551793955552:g.179395555C>AClinGen:CA284353CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.105782C>T (p.Pro35261Leu)7273TTNBenign/Likely benign16866380RCV000040969|RCV000253484|RCV000268812|RCV000291248|RCV000322622|RCV000326481|RCV000383347|RCV000466889; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012721793955601793955602:g.179395560G>AClinGen:CA284348CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.105772C>A (p.Pro35258Thr)7273TTNUncertain significance886055220RCV000294939|RCV000299805|RCV000348558|RCV000352266|RCV000394602; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orph21793955701793955702:g.179395570G>TClinGen:CA10612997CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.105757G>A (p.Val35253Met)7273TTNConflicting interpretations of pathogenicity373655492RCV000267874|RCV000266472|RCV000303178|RCV000306527|RCV000338409|RCV000360232|RCV000642963|RCV002411161; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21793955851793955852:g.179395585C>TClinGen:CA1985216C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.105653T>C (p.Ile35218Thr)7273TTNConflicting interpretations of pathogenicity143499441RCV000374683|RCV000316931|RCV000282589|RCV000339796|RCV000388832|RCV000842725|RCV001087206; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21793956891793956892:g.179395689A>GClinGen:CA1985224C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.105582C>T (p.Ser35194=)7273TTNBenign3829749RCV000040963|RCV000245083|RCV000308559|RCV000343449|RCV000365019|RCV000398203|RCV000406215|RCV000458034; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C18635992179395760179395760ClinGen:CA284338
NM_001267550.2(TTN):c.105545A>G (p.Tyr35182Cys)7273TTNUncertain significance878913505RCV001132216|RCV001132217|RCV001133142|RCV001133141|RCV001133143|RCV001321453|RCV002411640; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21793957971793957972:g.179395797T>C-
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met)7273TTNBenign/Likely benign55865284RCV000040962|RCV000205427|RCV000246518|RCV000276660|RCV000311945|RCV000334086|RCV000353762|RCV000398204|RCV000768820|RCV001080769; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MOND21793958131793958132:g.179395813C>TClinGen:CA284333CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.105512C>T (p.Thr35171Ile)7273TTNConflicting interpretations of pathogenicity774524898RCV000261339|RCV000319264|RCV000322851|RCV000379527|RCV000376209|RCV000643648|RCV001704941|RCV002408823; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21793958301793958302:g.179395830G>AClinGen:CA311235C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.105416C>T (p.Thr35139Ile)7273TTNConflicting interpretations of pathogenicity200782068RCV000040959|RCV000172151|RCV001132330|RCV001132332|RCV001132331|RCV001132333|RCV001133260|RCV002483020|RCV002408537; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011421793959261793959262:g.179395926G>AClinGen:CA141726CN517202 not provided;
NM_001267550.2(TTN):c.105406C>T (p.Arg35136Trp)7273TTNConflicting interpretations of pathogenicity372875128RCV000273903|RCV000298551|RCV000313614|RCV000355738|RCV000396822|RCV000607925|RCV003137936; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MON21793959361793959362:g.179395936G>AClinGen:CA1985267CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.105383C>T (p.Ala35128Val)7273TTNConflicting interpretations of pathogenicity758458467RCV000281757|RCV000321782|RCV000372813|RCV000616776|RCV000577947|RCV000578001|RCV003137937; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858721793959591793959592:g.179395959G>AClinGen:CA1985269C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.105257T>A (p.Met35086Lys)7273TTNUncertain significance886055221RCV000268501|RCV000304957|RCV000320193|RCV000359716|RCV000363060; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21793960851793960852:g.179396085A>TClinGen:CA10613005CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.105212C>G (p.Ser35071Cys)7273TTNConflicting interpretations of pathogenicity3813249RCV000154641|RCV000868561|RCV001133349|RCV001133350|RCV001133347|RCV001133348|RCV001134817|RCV001697052; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orp21793961301793961302:g.179396130G>CClinGen:CA181087CN169374 not specified;
NM_001267550.2(TTN):c.104988C>T (p.Val34996=)7273TTNBenign3829748RCV000040950|RCV000252004|RCV000285431|RCV000325349|RCV000340379|RCV000379996|RCV000403954|RCV001513089; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C18635992179396354179396354ClinGen:CA284301CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.104979G>A (p.Thr34993=)7273TTNConflicting interpretations of pathogenicity775644738RCV000865716|RCV001132526|RCV001132524|RCV001133451|RCV001132525|RCV001133450|RCV002409036|RCV003222157; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21793963631793963632:g.179396363C>T-
NM_001267550.2(TTN):c.104936G>A (p.Gly34979Asp)7273TTNUncertain significance376634193RCV000281979|RCV000336747|RCV000370270|RCV000396905|RCV000404588; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21793964061793964062:g.179396406C>TClinGen:CA10611593CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.104890A>T (p.Asn34964Tyr)7273TTNConflicting interpretations of pathogenicity779363624RCV001134946|RCV001133452|RCV001134944|RCV001134945|RCV001134947; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,21793964521793964522:g.179396452T>A-
NM_001267550.2(TTN):c.104691G>A (p.Ser34897=)7273TTNBenign/Likely benign369619711RCV000431868|RCV000475926|RCV001840539|RCV001840536|RCV001840537|RCV001840538|RCV002402130|RCV003333971; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,21793966511793966512:g.179396651C>TClinGen:CA1985380C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.104591C>T (p.Pro34864Leu)7273TTNConflicting interpretations of pathogenicity72629788RCV000281470|RCV000284557|RCV000324787|RCV000375453|RCV000379364|RCV002402053|RCV003137938; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21793967511793967512:g.179396751G>AClinGen:CA1985394CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.104570T>C (p.Leu34857Pro)7273TTNUncertain significance368765896RCV001133571|RCV001133572|RCV001133573|RCV001133574|RCV001133570|RCV002480509; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MON21793967721793967722:g.179396772A>G-
NM_001267550.2(TTN):c.104564C>A (p.Ser34855Tyr)7273TTNUncertain significance886055222RCV000266350|RCV000306321|RCV000348091|RCV000361010|RCV000394509|RCV001038472; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21793967781793967782:g.179396778G>TClinGen:CA10613205CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.104522G>A (p.Arg34841His)7273TTNConflicting interpretations of pathogenicity373709706RCV000210543|RCV000518156|RCV001130044|RCV001130042|RCV001135066|RCV001130041|RCV001130043|RCV001571070|RCV002399774; NMeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,Me21793968201793968202:g.179396820C>TClinGen:CA357992C0950123 Inborn genetic diseases;
NM_001267550.2(TTN):c.104365G>A (p.Glu34789Lys)7273TTNConflicting interpretations of pathogenicity190565627RCV000040938|RCV000292859|RCV000291584|RCV000344090|RCV000350073|RCV000388022|RCV000474765|RCV000618932|RCV001703917; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673621793969771793969772:g.179396977C>TClinGen:CA141665CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.104328A>C (p.Pro34776=)7273TTNConflicting interpretations of pathogenicity1575245592RCV000840702|RCV001133711|RCV001130746|RCV001130747|RCV001133710|RCV001133712|RCV002536124; NMedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,21793970141793970142:g.179397014T>G-
NM_001267550.2(TTN):c.104277G>A (p.Lys34759=)7273TTNConflicting interpretations of pathogenicity377391143RCV000303059|RCV000304445|RCV000342916|RCV000355591|RCV000405003|RCV000726673|RCV001082825|RCV002402054; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,21793970651793970652:g.179397065C>TClinGen:CA1985449C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.104205G>A (p.Thr34735=)7273TTNBenign/Likely benign752424146RCV000643490|RCV001559954|RCV001840725|RCV001840726|RCV001840727|RCV001840728|RCV002397238; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp2179397137179397137NC_000002.11:g.179397137C>TClinGen:CA1985464C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.104092_104103delinsGAAGCTTT (p.Arg34698fs)7273TTNLikely pathogenic1689596670RCV001199244; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:60921793972391793972502:g.179397240_179397250del-
NM_001267550.2(TTN):c.104072T>C (p.Phe34691Ser)7273TTNUncertain significance886055223RCV000263195|RCV000275688|RCV000296974|RCV000333146|RCV000354153; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21793972701793972702:g.179397270A>GClinGen:CA10612009CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.104045G>A (p.Arg34682His)7273TTNConflicting interpretations of pathogenicity190398670RCV001130174|RCV001130175|RCV001130171|RCV001130172|RCV001130173|RCV002556830; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21793972971793972972:g.179397297C>T-
NM_001267550.2(TTN):c.103993C>G (p.Leu34665Val)7273TTNConflicting interpretations of pathogenicity370890922RCV000274660|RCV000289473|RCV000327506|RCV000380443|RCV000384361|RCV001565339|RCV002402055; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orph21793973491793973492:g.179397349G>CClinGen:CA1985506CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.103992C>G (p.Leu34664=)7273TTNConflicting interpretations of pathogenicity375120372RCV000283446|RCV000334897|RCV000340772|RCV000404694|RCV000406553|RCV001726129|RCV001700063|RCV002521343|RCV002402056; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21793973501793973502:g.179397350G>CClinGen:CA1985507CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.103924_103926del (p.Pro34642del)7273TTNUncertain significance771366227RCV000266422|RCV000284078|RCV000323739|RCV000325914|RCV000363355|RCV000376093|RCV000517109|RCV002223203; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MedGen:CN239352|MedGen:CN239310|Human Phenotype O21793974161793974182:g.179397416_179397418delClinGen:CA1985522CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.103913G>A (p.Arg34638His)7273TTNConflicting interpretations of pathogenicity371528685RCV000215601|RCV000318098|RCV000278285|RCV000335727|RCV000375123|RCV000404751|RCV001722172; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21793974291793974292:g.179397429C>TClinGen:CA1985523CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.103524C>T (p.Val34508=)7273TTNBenign/Likely benign587780985RCV000125980|RCV000528109|RCV001839996|RCV001839998|RCV001839997|RCV001839999|RCV002390282; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp2179397818179397818ClinGen:CA291492C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.103430T>C (p.Ile34477Thr)7273TTNConflicting interpretations of pathogenicity751914956RCV000185092|RCV000462205|RCV000727152|RCV001131014|RCV001131015|RCV001130307|RCV001130309|RCV001130308|RCV002390483; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221793979121793979122:g.179397912A>GClinGen:CA311151C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.103417G>A (p.Val34473Ile)7273TTNConflicting interpretations of pathogenicity188917199RCV000259069|RCV000294576|RCV000293378|RCV000333239|RCV000385289|RCV000373025|RCV000470580|RCV000723662|RCV002390246; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orp21793979251793979252:g.179397925C>TClinGen:CA285790C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.103412G>A (p.Arg34471Gln)7273TTNConflicting interpretations of pathogenicity149391616RCV000172159|RCV000729500|RCV001084327|RCV001131016|RCV001133963|RCV001133964|RCV001133965|RCV001133966; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221793979301793979302:g.179397930C>TClinGen:CA237623C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.102984C>T (p.Asp34328=)7273TTNConflicting interpretations of pathogenicity541125667RCV000259921|RCV000298697|RCV000357106|RCV000370182|RCV000404855|RCV000603386|RCV000831397|RCV001429062; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,O2179398358179398358NC_000002.11:g.179398358G>AClinGen:CA1985672CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val)7273TTNBenign/Likely benign3731752RCV000040924|RCV000247202|RCV000272164|RCV000330694|RCV000329489|RCV000381753|RCV000387601|RCV000476173|RCV001574062; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C186359921793985091793985092:g.179398509C>AClinGen:CA284264CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.102790C>T (p.Leu34264Phe)7273TTNConflicting interpretations of pathogenicity773984912RCV001134096|RCV001134095|RCV001134097|RCV001134098|RCV001134099|RCV001326846|RCV001170294|RCV001779121; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orph21793985521793985522:g.179398552G>A-
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val)7273TTNConflicting interpretations of pathogenicity56173891RCV000154873|RCV000284033|RCV000289664|RCV000342470|RCV000336674|RCV000376165|RCV000405890|RCV000617769|RCV000723860|RCV001085767|RCV001798491; NMedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:21721793985911793985912:g.179398591T>CClinGen:CA181573,UniProtKB:Q8WZ42#VAR_040330CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.102705T>C (p.Tyr34235=)7273TTNUncertain significance1690297479RCV001130523|RCV001135605|RCV001135602|RCV001135603|RCV001135604; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MON21793986371793986372:g.179398637A>G-
NM_001267550.2(TTN):c.102519C>T (p.Gly34173=)7273TTNBenign2857265RCV000040919|RCV000246942|RCV000276423|RCV000297035|RCV000311745|RCV000371051|RCV000404450|RCV001513091; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C18373422179398823179398823ClinGen:CA284259CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.102287C>A (p.Thr34096Asn)7273TTNConflicting interpretations of pathogenicity375002174RCV000264386|RCV000272777|RCV000308202|RCV000327987|RCV000362783|RCV000518469; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21793990551793990552:g.179399055G>TClinGen:CA1985774CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp)7273TTNConflicting interpretations of pathogenicity140319117RCV000119019|RCV000154875|RCV000509179|RCV000621822|RCV000713953|RCV000852776|RCV001086721|RCV001134222|RCV001134223|RCV001134221|RCV001798505; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MedGen:CN230736|MedGen:C3661900|EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,Human Phenoty21793990711793990712:g.179399071G>AClinGen:CA211232CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.102156G>T (p.Arg34052=)7273TTNConflicting interpretations of pathogenicity376894729RCV000040915|RCV000306383|RCV000350714|RCV000349889|RCV000403010|RCV000407697|RCV000862227|RCV001535414|RCV002390172; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orp21793991861793991862:g.179399186C>AClinGen:CA141589CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.101853A>C (p.Arg33951Ser)7273TTNConflicting interpretations of pathogenicity761821275RCV001135824|RCV001135826|RCV001135825|RCV001135827|RCV001135828|RCV003142072; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,O21793994891793994892:g.179399489T>G-
NM_001267550.2(TTN):c.101803A>G (p.Ile33935Val)7273TTNBenign/Likely benign56376197RCV000040911|RCV000245124|RCV000263390|RCV000318496|RCV000334137|RCV000353675|RCV000387147|RCV000769855|RCV001080366|RCV001529559; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,21793995391793995392:g.179399539T>CClinGen:CA284247CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His)7273TTNConflicting interpretations of pathogenicity55886356RCV000040910|RCV000233206|RCV000245404|RCV000289503|RCV000341092|RCV000344458|RCV000388677|RCV000393835|RCV000769856|RCV000852779|RCV001085578; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:001212721793995761793995762:g.179399576C>GClinGen:CA284242CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.101406C>G (p.Val33802=)7273TTNBenign/Likely benign55802460RCV000040907|RCV000226522|RCV000296950|RCV000305106|RCV000356538|RCV000390557|RCV000404052|RCV000617994|RCV001528393|RCV001798209; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,2179399936179399936ClinGen:CA284232CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.101291C>T (p.Ala33764Val)7273TTNConflicting interpretations of pathogenicity773542514RCV000269466|RCV000284570|RCV000329031|RCV000378783|RCV000383573|RCV000727776|RCV001798783|RCV002379220; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,O21794000511794000512:g.179400051G>AClinGen:CA1985903CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.101064T>C (p.Asp33688=)7273TTNBenign/Likely benign368168812RCV000040901|RCV000458005|RCV000618742|RCV001081712|RCV001839760|RCV001839761|RCV001839762|RCV001839763; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:00121272179400278179400278ClinGen:CA232516CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.100982G>A (p.Arg33661Lys)7273TTNConflicting interpretations of pathogenicity201857158RCV000172168|RCV000244016|RCV000578003|RCV000577929|RCV000578083|RCV000600352|RCV001078580; NMedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MedGen:CN169374|MONDO:MONDO:001140021794003601794003602:g.179400360C>TClinGen:CA237647CN230736 Cardiovascular phenotype;
NM_133378.4(TTN):c.93062-10T>C7273TTNBenign202214630RCV000082465|RCV000203751|RCV000266177|RCV000302704|RCV000310651|RCV000365488|RCV000406239|RCV001795152|RCV003149768; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orp21794005861794005862:g.179400586A>GClinGen:CA285789C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.100766-10dup7273TTNBenign/Likely benign749872538RCV000177496|RCV001706974|RCV001842791|RCV001842792|RCV001842793|RCV001842794; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:001272179400586179400586NC_000002.11:g.179400600dupClinGen:CA202493CN169374 not specified;
NM_001267550.2(TTN):c.100766-11_100766-10del7273TTNBenign/Likely benign749872538RCV000350670|RCV001840465|RCV001840467|RCV001570029|RCV001840464|RCV001840466; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C18632179400586179400587NC_000002.11:g.179400599_179400600delClinGen:CA1985987CN169374 not specified;
NM_001267550.2(TTN):c.100459C>T (p.Pro33487Ser)7273TTNBenign/Likely benign72629779RCV000040897|RCV000228460|RCV000249239|RCV000289321|RCV000295380|RCV000346743|RCV000387386|RCV000381490|RCV001811300; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C186359921794010151794010152:g.179401015G>AClinGen:CA284222CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln)7273TTNConflicting interpretations of pathogenicity368321767RCV000283303|RCV000305798|RCV000340707|RCV000353303|RCV000392156|RCV000537271|RCV000617715|RCV000713947|RCV000764297|RCV001270047|RCV002282014; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,21794010271794010272:g.179401027C>GClinGen:CA311106CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly)7273TTNConflicting interpretations of pathogenicity372304158RCV000299494|RCV000331220|RCV000356693|RCV000390641|RCV000369666|RCV000524719|RCV000621440|RCV000713946|RCV000764298|RCV001270048|RCV002282013; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MON21794010421794010422:g.179401042A>CClinGen:CA311103CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.100315T>C (p.Trp33439Arg)7273TTNConflicting interpretations of pathogenicity545443009RCV000118796|RCV000279980|RCV000284327|RCV000337342|RCV000407424|RCV000407478; NMedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837321794011591794011592:g.179401159A>GClinGen:CA289110CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr)7273TTNConflicting interpretations of pathogenicity201112096RCV000172170|RCV000270805|RCV000311753|RCV000315180|RCV000362844|RCV000403284|RCV000517499|RCV001087486|RCV002381562; NMedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,21794012481794012482:g.179401248C>TClinGen:CA302391C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.100172-17dup7273TTNConflicting interpretations of pathogenicity397517782RCV000040895|RCV000233669|RCV000264912|RCV000268603|RCV000309583|RCV000322481|RCV000366459|RCV000379379|RCV000768838|RCV001079618; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MedGen:CN239352|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|M21794013111794013122:g.179401311_179401312insAClinGen:CA284221C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg)7273TTNConflicting interpretations of pathogenicity56061641RCV000040891|RCV000242557|RCV000487595|RCV000549681|RCV001131862|RCV001131863|RCV001131859|RCV001131860|RCV001131861|RCV001196003; NMedGen:CN169374|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:001140021794018451794018452:g.179401845A>GClinGen:CA141535,UniProtKB:Q8WZ42#VAR_040318CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys)7273TTNConflicting interpretations of pathogenicity775769503RCV000273760|RCV000296140|RCV000331164|RCV000344102|RCV000375299|RCV000594505|RCV000621517|RCV003226282; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MON21794018701794018702:g.179401870C>AClinGen:CA1986096CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.99903A>G (p.Glu33301=)7273TTNUncertain significance886055227RCV000284373|RCV000290342|RCV000341626|RCV000347603|RCV000390923|RCV000382397; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MedGen:CN239352|MONDO:MONDO21794019331794019332:g.179401933T>CClinGen:CA10613010CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.99900C>T (p.Ile33300=)7273TTNConflicting interpretations of pathogenicity747130957RCV001136257|RCV001136254|RCV001136255|RCV001136256|RCV001136258|RCV001471963|RCV002382070|RCV003330995; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MON21794019361794019362:g.179401936G>A-
NM_001267550.2(TTN):c.99877_99878delinsGT (p.Lys33293Val)7273TTNUncertain significance2154138101RCV001797865; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:6092179401958179401959179401958-
NM_001267550.2(TTN):c.99866-10C>T7273TTNConflicting interpretations of pathogenicity773128928RCV000184115|RCV000472360|RCV001840278|RCV001840279|RCV001840280|RCV001840281; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21794019801794019802:g.179401980G>AClinGen:CA308974C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.99415A>G (p.Lys33139Glu)7273TTNUncertain significance779723670RCV000285084|RCV000309603|RCV000340060|RCV000392740|RCV000404248|RCV001288587; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MON21794025191794025192:g.179402519T>CClinGen:CA1986187CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.99239G>A (p.Gly33080Glu)7273TTNConflicting interpretations of pathogenicity762905152RCV000283070|RCV000287133|RCV000317378|RCV000323273|RCV000372278; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21794033171794033172:g.179403317C>TClinGen:CA1986235CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.99154C>T (p.Arg33052Cys)7273TTNConflicting interpretations of pathogenicity758109676RCV000260897|RCV000297178|RCV000300928|RCV000349404|RCV000408203; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MON21794034021794034022:g.179403402G>AClinGen:CA1986246CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.98989+12A>C7273TTNConflicting interpretations of pathogenicity72648275RCV000271664|RCV000321818|RCV000326695|RCV000361241|RCV000384878|RCV000610500|RCV002057613; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,O21794036611794036612:g.179403661T>GClinGen:CA1986282CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.98959T>C (p.Ser32987Pro)7273TTNConflicting interpretations of pathogenicity758494581RCV000185056|RCV000303989|RCV000298988|RCV000335265|RCV000392376|RCV000358712|RCV001704935; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21794037031794037032:g.179403703A>GClinGen:CA311067CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.98743A>G (p.Ser32915Gly)7273TTNConflicting interpretations of pathogenicity760917372RCV000276620|RCV000282308|RCV000331733|RCV000373215|RCV000386284|RCV000322337|RCV000540534|RCV001170524; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21794039191794039192:g.179403919T>CClinGen:CA1986314C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.98721C>A (p.Leu32907=)7273TTNBenign/Likely benign375361462RCV000040876|RCV000244471|RCV000459877|RCV001530033|RCV001839748|RCV001839750|RCV001839751|RCV001839749; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:00113622179403941179403941ClinGen:CA284179
NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser)7273TTNConflicting interpretations of pathogenicity367979582RCV000172178|RCV000213432|RCV000278672|RCV000284749|RCV000343230|RCV000339727|RCV000393696|RCV000527211|RCV002362883|RCV003407636; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C185821794041511794041512:g.179404151G>AClinGen:CA237665C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.98617G>A (p.Glu32873Lys)7273TTNUncertain significance1575354700RCV001132338|RCV001132334|RCV001132335|RCV001132336|RCV001132337; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MON21794041751794041752:g.179404175C>T-
NM_001267550.2(TTN):c.98606G>C (p.Arg32869Pro)7273TTNLikely pathogenic587780495RCV000118795; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:6092179404186179404186NC_000002.11:g.179404186C>GClinGen:CA269799C1838244 600334 Distal myopathy Markesbery-Griggs type;
NM_001267550.2(TTN):c.98439G>A (p.Val32813=)7273TTNBenign/Likely benign368487246RCV000040870|RCV000468803|RCV001084103|RCV001839744|RCV001839745|RCV001839746|RCV001839747|RCV002362661; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C18373422179404353179404353ClinGen:CA232511
NM_001267550.2(TTN):c.98367G>A (p.Lys32789=)7273TTNBenign/Likely benign72648274RCV000125962|RCV001422378|RCV001839992|RCV001839993|RCV001839994|RCV001839995|RCV002371963; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp2179404425179404425ClinGen:CA291489
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly)7273TTNConflicting interpretations of pathogenicity72648273RCV000040867|RCV000118794|RCV000248345|RCV000260558|RCV000264048|RCV000322722|RCV000321435|RCV000354955|RCV000361061|RCV000768847|RCV001079943|RCV002222153; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MOND21794044981794044982:g.179404498G>CClinGen:CA141474CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.98267C>T (p.Thr32756Ile)7273TTNConflicting interpretations of pathogenicity199805060RCV000154883|RCV000172609|RCV000242078|RCV000269738|RCV000296814|RCV000327104|RCV000349128|RCV000388775|RCV001080422; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MOND21794045251794045252:g.179404525G>AClinGen:CA181596CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys)7273TTNConflicting interpretations of pathogenicity72648272RCV000040865|RCV000172610|RCV000298721|RCV000338814|RCV000341836|RCV000387355|RCV000401107|RCV000620090|RCV000768849|RCV001081784; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C186359921794045501794045502:g.179404550G>AClinGen:CA141465CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.98169A>C (p.Arg32723Ser)7273TTNUncertain significance753058072RCV000271823|RCV000302333|RCV000310579|RCV000359387|RCV000362412; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,O21794046231794046232:g.179404623T>GClinGen:CA1986418CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.98098+9T>A7273TTNBenign2288325RCV000040863|RCV000281676|RCV000285626|RCV000334765|RCV000342955|RCV000373023|RCV001513441; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,21794047861794047862:g.179404786A>TClinGen:CA284158CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.97900G>A (p.Gly32634Ser)7273TTNUncertain significance1693772565RCV001197741|RCV002365896; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MedGen:CN23073621794049931794049932:g.179404993C>T-
NM_001267550.2(TTN):c.97795+6G>T7273TTNBenign3731750RCV000040859|RCV000260624|RCV000262361|RCV000319856|RCV000353732|RCV000368703|RCV000993516|RCV001513442; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21794060031794060032:g.179406003C>AClinGen:CA284157CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His)7273TTNConflicting interpretations of pathogenicity55704830RCV000040857|RCV000154034|RCV000250297|RCV000295583|RCV000313220|RCV000343661|RCV000401798|RCV000407558|RCV000769864|RCV001080383|RCV001281439|RCV002362659; NMedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orph21794060441794060442:g.179406044C>TClinGen:CA141443C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro)7273TTNConflicting interpretations of pathogenicity55704830RCV000040858|RCV000172611|RCV000248871|RCV000282930|RCV000291082|RCV000322814|RCV000379720|RCV000383122|RCV000769863|RCV001086482|RCV001293119; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MOND21794060441794060442:g.179406044C>GClinGen:CA141448CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.97742G>T (p.Gly32581Val)7273TTNConflicting interpretations of pathogenicity397517771RCV000040856|RCV000266897|RCV000297925|RCV000324467|RCV000354697|RCV000407527|RCV000726291|RCV001088537|RCV002362658; NMedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21794060621794060622:g.179406062C>AClinGen:CA141439C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.97717C>T (p.Arg32573Cys)7273TTNConflicting interpretations of pathogenicity569593251RCV000265881|RCV000288333|RCV000328035|RCV000358173|RCV000384949|RCV001547700; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21794060871794060872:g.179406087G>AClinGen:CA1986502CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.97643G>A (p.Arg32548His)7273TTNConflicting interpretations of pathogenicity55676195RCV000281590|RCV000292301|RCV000334395|RCV000349601|RCV000389059|RCV001544655|RCV002374563; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MON21794061611794061612:g.179406161C>TClinGen:CA1986512CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His)7273TTNBenign/Likely benign3731749RCV000040855|RCV000252307|RCV000303017|RCV000304347|RCV000364975|RCV000390995|RCV000402124|RCV000993515|RCV001513443; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012121794061911794061912:g.179406191C>TClinGen:CA284152CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.97592T>A (p.Val32531Glu)7273TTNUncertain significance1060500477RCV001133576|RCV001133578|RCV001133575|RCV001133577|RCV001133579|RCV001700701; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,O21794062121794062122:g.179406212A>T-
NM_001267550.2(TTN):c.97524A>G (p.Ile32508Met)7273TTNConflicting interpretations of pathogenicity755848026RCV000276321|RCV000306676|RCV000333703|RCV000363734|RCV000385997|RCV000852487|RCV003137941; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21794062801794062802:g.179406280T>CClinGen:CA1986530CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.97435C>A (p.Arg32479Ser)7273TTNConflicting interpretations of pathogenicity200148139RCV000267740|RCV000281918|RCV000275218|RCV000318676|RCV000375642|RCV000377474|RCV000642928|RCV001704932; NMedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858721794070481794070482:g.179407048G>TClinGen:CA311019C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.97388G>A (p.Arg32463Lys)7273TTNUncertain significance1257117887RCV001133713|RCV001133714|RCV001133715|RCV001133716|RCV001135207; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MON21794070951794070952:g.179407095C>T-
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=)7273TTNConflicting interpretations of pathogenicity376810671RCV000082458|RCV000251217|RCV000260318|RCV000277832|RCV000308697|RCV000314163|RCV000367775|RCV000769869|RCV000724942|RCV001085154; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012721794070971794070972:g.179407097G>AClinGen:CA223997CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.97331G>C (p.Arg32444Pro)7273TTNConflicting interpretations of pathogenicity184922462RCV000172182|RCV001087902|RCV001130177|RCV001130178|RCV001135208|RCV001135209|RCV001130176|RCV002362884|RCV003226236; NMedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,2179407152179407152NC_000002.11:g.179407152C>GClinGen:CA302407C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.97319G>A (p.Arg32440His)7273TTNConflicting interpretations of pathogenicity750047570RCV000214855|RCV000266268|RCV000374731|RCV000320208|RCV000320900|RCV000380124|RCV003150114; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837321794071641794071642:g.179407164C>TClinGen:CA1986578CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=)7273TTNConflicting interpretations of pathogenicity373206096RCV000040851|RCV000185035|RCV001082096|RCV001130876|RCV001130878|RCV001130877|RCV001130874|RCV001130875|RCV002371849; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221794072261794072262:g.179407226A>GClinGen:CA141421C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.97193-16T>G7273TTNConflicting interpretations of pathogenicity371317486RCV000423326|RCV001198132|RCV002061567; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:14092221794073061794073062:g.179407306A>CClinGen:CA1986601CN169374 not specified;
NM_001267550.2(TTN):c.97192+6G>A7273TTNConflicting interpretations of pathogenicity367760700RCV000607160|RCV000997344|RCV001133852|RCV001133854|RCV001133851|RCV001133853|RCV001133855; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011421794073831794073832:g.179407383C>TClinGen:CA1986616CN169374 not specified;
NM_001267550.2(TTN):c.97112T>G (p.Ile32371Ser)7273TTNUncertain significance748682168RCV001133856|RCV001135347|RCV001135349|RCV001135348|RCV001135350; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21794074691794074692:g.179407469A>C-
NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys)7273TTNConflicting interpretations of pathogenicity202064385RCV000040848|RCV000185032|RCV000242748|RCV001085595|RCV001130310|RCV001135351|RCV001135352|RCV001135353|RCV001135354|RCV001798203; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:001140021794074821794074822:g.179407482G>AClinGen:CA141408CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.97045G>A (p.Glu32349Lys)7273TTNUncertain significance1695237277RCV001130311|RCV001130312|RCV001130313|RCV001130314|RCV001130315; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21794075361794075362:g.179407536C>T-
NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile)7273TTNBenign/Likely benign56027402RCV000040843|RCV000248418|RCV000299281|RCV000298233|RCV000351970|RCV000352941|RCV000400220|RCV000471009|RCV000769870|RCV001528503; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,21794076371794076372:g.179407637G>AClinGen:CA284147CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.96931A>G (p.Met32311Val)7273TTNUncertain significance727504981RCV000156396|RCV000264342|RCV000270185|RCV000324146|RCV000325412|RCV000360131; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21794076501794076502:g.179407650T>CClinGen:CA184758CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.96904+8C>T7273TTNBenign/Likely benign528358945RCV000152173|RCV000863554|RCV001840067|RCV001840068|RCV001840069|RCV001840070; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21794077881794077882:g.179407788G>AClinGen:CA178403CN169374 not specified;
NM_001267550.2(TTN):c.96887C>T (p.Thr32296Ile)7273TTNUncertain significance773279450RCV001198836; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:60921794078131794078132:g.179407813G>A-
NM_001267550.2(TTN):c.96491A>G (p.Tyr32164Cys)7273TTNUncertain significance886055229RCV000281990|RCV000301854|RCV000336985|RCV000390080|RCV000400029; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21794082091794082092:g.179408209T>CClinGen:CA10613212CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.96252A>G (p.Thr32084=)7273TTNConflicting interpretations of pathogenicity369626133RCV000040837|RCV000272185|RCV000307689|RCV000327286|RCV000362345|RCV000367993|RCV000621254|RCV000724900|RCV001086829; NMedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,21794086191794086192:g.179408619T>CClinGen:CA141374CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn)7273TTNConflicting interpretations of pathogenicity200540781RCV000219446|RCV000273519|RCV000316543|RCV000334102|RCV000375971|RCV000388603|RCV000464293|RCV000617391|RCV000725268|RCV003150052|RCV003319185; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858721794086361794086362:g.179408636C>TClinGen:CA302919CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln)7273TTNConflicting interpretations of pathogenicity374063064RCV000221381|RCV000312975|RCV000307260|RCV000348077|RCV000367679|RCV000393913|RCV000465608|RCV000620724|RCV000728761; NMedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,21794086981794086982:g.179408698C>TClinGen:CA1986808CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.96108G>A (p.Val32036=)7273TTNBenign/Likely benign372773283RCV000040832|RCV000465115|RCV000618903|RCV001081715|RCV001839732|RCV001839734|RCV001839735|RCV001839733; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:00113622179408763179408763ClinGen:CA232506
NM_001267550.2(TTN):c.96026T>G (p.Ile32009Arg)7273TTNConflicting interpretations of pathogenicity375368824RCV000475458|RCV000839289|RCV001131256|RCV001131257|RCV001131258|RCV001131259|RCV001130529; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,2179408930179408930NC_000002.11:g.179408930A>CClinGen:CA1986834C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.96008T>C (p.Ile32003Thr)7273TTNConflicting interpretations of pathogenicity745962752RCV000601678|RCV001134224|RCV001131261|RCV001131263|RCV001131260|RCV001131262|RCV003139928; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orp21794089481794089482:g.179408948A>GClinGen:CA1986840CN169374 not specified;
NM_001267550.2(TTN):c.95829A>G (p.Gly31943=)7273TTNConflicting interpretations of pathogenicity572618111RCV000263135|RCV000266669|RCV000301954|RCV000323963|RCV000355650|RCV000597226; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21794091271794091272:g.179409127T>CClinGen:CA1986868CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr)7273TTNConflicting interpretations of pathogenicity72648263RCV000040830|RCV000172615|RCV000292373|RCV000270075|RCV000327509|RCV000349608|RCV000380825|RCV000621105|RCV000769875|RCV000852785|RCV001085084; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C185821794101841794101842:g.179410184C>TClinGen:CA141349CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.95557C>T (p.Arg31853Cys)7273TTNConflicting interpretations of pathogenicity727503542RCV000152178|RCV001131362|RCV001134360|RCV001134362|RCV001134361|RCV001134363; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673621794102801794102802:g.179410280G>AClinGen:CA178417CN169374 not specified;
NM_001267550.2(TTN):c.95490A>G (p.Lys31830=)7273TTNUncertain significance1696713042RCV001128837|RCV001128835|RCV001128836|RCV001135829|RCV001135830; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21794103471794103472:g.179410347T>C-
NM_001267550.2(TTN):c.95468A>G (p.His31823Arg)7273TTNUncertain significance794729539RCV000222231|RCV000273243|RCV000276697|RCV000330564|RCV000334055|RCV000368918|RCV000733870|RCV002362965; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,21794103691794103692:g.179410369T>CClinGen:CA310977CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.95342G>A (p.Arg31781Gln)7273TTNUncertain significance748984928RCV000185015|RCV000279405|RCV000318154|RCV000283010|RCV000375134|RCV000397912; NMedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858721794106211794106212:g.179410621C>TClinGen:CA310971CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.95336T>C (p.Ile31779Thr)7273TTNUncertain significance1460359915RCV001131496|RCV001131497|RCV001131498|RCV001134486|RCV001134485|RCV002556840|RCV003223700; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21794106271794106272:g.179410627A>G-
NM_001267550.2(TTN):c.95320A>G (p.Lys31774Glu)7273TTNConflicting interpretations of pathogenicity762265902RCV000172186|RCV000286462|RCV000308968|RCV000365968|RCV000389961|RCV000399987|RCV000469609|RCV002307433|RCV003398882; NMedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,21794106431794106432:g.179410643T>CClinGen:CA302411C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.95244C>T (p.Arg31748=)7273TTNConflicting interpretations of pathogenicity368243641RCV000040822|RCV000244797|RCV000467863|RCV001128956|RCV001128957|RCV001131614|RCV001131615|RCV001131613|RCV001529974; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C26736772179410719179410719ClinGen:CA284115
NM_001267550.2(TTN):c.95196G>A (p.Pro31732=)7273TTNConflicting interpretations of pathogenicity752309744RCV000292154|RCV000349691|RCV000346099|RCV000384378|RCV000400307|RCV000643496|RCV001712058|RCV001729543|RCV002365393; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21794107671794107672:g.179410767C>TClinGen:CA1986992C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys)7273TTNConflicting interpretations of pathogenicity869320742RCV000119024|RCV000255214|RCV001132649|RCV001132648|RCV001136029|RCV001136030|RCV001380728; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858721794107761794107762:g.179410776C>GClinGen:CA358826C1863599 603689 Hereditary myopathy with early respiratory failure;
NM_001267550.2(TTN):c.95163A>G (p.Thr31721=)7273TTNUncertain significance376944872RCV000264948|RCV000300098|RCV000303748|RCV000334461|RCV000399543; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21794108001794108002:g.179410800T>CClinGen:CA10611602CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.95153G>T (p.Ser31718Ile)7273TTNConflicting interpretations of pathogenicity758006837RCV000468524|RCV001129060|RCV001129061|RCV001129062|RCV001129063|RCV001136031|RCV001662418; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O2179410810179410810NC_000002.11:g.179410810C>AClinGen:CA1986997C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.95078C>A (p.Ala31693Asp)7273TTNConflicting interpretations of pathogenicity2288326RCV000040817|RCV000172188|RCV000268106|RCV000272165|RCV000325497|RCV000360898|RCV000382966|RCV001083436; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011421794109801794109802:g.179410980G>TClinGen:CA141318C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.95047A>G (p.Ser31683Gly)7273TTNBenign/Likely benign72648257RCV000040816|RCV000246124|RCV000279054|RCV000294220|RCV000351457|RCV000389812|RCV000386350|RCV000473882|RCV000993511; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C267367721794110111794110112:g.179411011T>CClinGen:CA284100CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn)7273TTNBenign/Likely benign116567963RCV000040815|RCV000301598|RCV000305370|RCV000362291|RCV000399434|RCV000396306|RCV000617586|RCV000714125|RCV001084403|RCV001798199|RCV002504915; NMedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21794110231794110232:g.179411023C>TClinGen:CA284095CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.94864G>A (p.Gly31622Ser)7273TTNUncertain significance1385680314RCV001129179|RCV001129180|RCV001129176|RCV001129177|RCV001129178; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21794111941794111942:g.179411194C>T-
NM_001267550.2(TTN):c.94652T>C (p.Val31551Ala)7273TTNUncertain significance369870689RCV000339696|RCV000765539|RCV001136262|RCV001136263|RCV001136264|RCV001136265|RCV001195640|RCV001136266; NMedGen:C3661900|6 conditions|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OM21794115031794115032:g.179411503A>GClinGen:CA1987085CN169374 not specified;
NM_001267550.2(TTN):c.94629A>G (p.Ile31543Met)7273TTNConflicting interpretations of pathogenicity397517759RCV000040811|RCV000247537|RCV000277148|RCV000298221|RCV000353169|RCV000356392|RCV000390504; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C267367721794115261794115262:g.179411526T>CClinGen:CA141305CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=)7273TTNConflicting interpretations of pathogenicity376539252RCV000040810|RCV000288131|RCV000328211|RCV000332146|RCV000367671|RCV000382848|RCV000726857|RCV000768855|RCV001085173|RCV002362653; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,2179411532179411532ClinGen:CA284085C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.94599T>C (p.Asp31533=)7273TTNConflicting interpretations of pathogenicity764363274RCV000284524|RCV000324430|RCV000340044|RCV000378998|RCV000395826|RCV001393465|RCV003114492|RCV003278775; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21794115561794115562:g.179411556A>GClinGen:CA1987094CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.94464T>C (p.Ala31488=)7273TTNBenign/Likely benign138888307RCV000438987|RCV000867179|RCV001840560|RCV001840561|RCV001840562|RCV001840563|RCV002365562; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21794117881794117882:g.179411788A>GClinGen:CA1987134CN169374 not specified;
NM_001267550.2(TTN):c.94282C>A (p.Arg31428Ser)7273TTNConflicting interpretations of pathogenicity190282707RCV000695149|RCV000727765|RCV000765540|RCV001196687; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:C3661900|6 conditions|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:60921794119701794119702:g.179411970G>TClinGen:CA310944C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.94239C>A (p.Thr31413=)7273TTNConflicting interpretations of pathogenicity1042759526RCV001136382|RCV001132942|RCV001132943|RCV001132944|RCV001132945|RCV002065447|RCV002363318|RCV003438547; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21794120131794120132:g.179412013G>T-
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His)7273TTNBenign/Likely benign181104321RCV000040808|RCV000172618|RCV001081587|RCV001129392|RCV001129393|RCV001129394|RCV001136388|RCV001136389|RCV001171241|RCV002362651; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C267367721794123071794123072:g.179412307C>TClinGen:CA141296C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.94045C>T (p.Arg31349Cys)7273TTNConflicting interpretations of pathogenicity727503549RCV000152186|RCV000618452|RCV001129395|RCV001129398|RCV001129396|RCV001129397|RCV001129399; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012721794123081794123082:g.179412308G>AClinGen:CA178433CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.93940G>A (p.Gly31314Ser)7273TTNUncertain significance368608059RCV000271007|RCV000292460|RCV000322843|RCV000307460|RCV000362349|RCV000365645; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,21794124131794124132:g.179412413C>TClinGen:CA1987223CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.93901G>A (p.Val31301Ile)7273TTNBenign/Likely benign67665715RCV000040806|RCV000247652|RCV000264235|RCV000279952|RCV000319403|RCV000334969|RCV000377429|RCV000475733|RCV000714121; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C186321794124521794124522:g.179412452C>TClinGen:CA284080CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.93868C>T (p.Leu31290=)7273TTNBenign/Likely benign557737090RCV000428661|RCV000950980|RCV001573781|RCV001840552|RCV001840553|RCV001840554|RCV001840555|RCV002488952|RCV002365542; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221794124851794124852:g.179412485G>AClinGen:CA1987235CN169374 not specified;
NM_001267550.2(TTN):c.93576T>C (p.Ala31192=)7273TTNConflicting interpretations of pathogenicity377521708RCV000621164|RCV001129495|RCV001129496|RCV001132226|RCV001132227|RCV001132228|RCV001496580; NMedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858721794127771794127772:g.179412777A>GClinGen:CA1987279CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.93524G>A (p.Arg31175His)7273TTNConflicting interpretations of pathogenicity72648251RCV000302003|RCV000305405|RCV000356493|RCV000360124|RCV000399391|RCV000725160|RCV001086637|RCV002362961; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orph21794128291794128292:g.179412829C>TClinGen:CA310920C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.93387C>T (p.Ser31129=)7273TTNBenign/Likely benign35445420RCV000040801|RCV000251279|RCV000261677|RCV000277067|RCV000332072|RCV000371452|RCV000386684|RCV000469267|RCV000993509; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C18635992179412966179412966ClinGen:CA284070
NM_001267550.2(TTN):c.93288T>C (p.Tyr31096=)7273TTNConflicting interpretations of pathogenicity1280272876RCV001133149|RCV001133150|RCV001134628|RCV001134627|RCV001288141|RCV001133148|RCV002365807|RCV002556856; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21794130651794130652:g.179413065A>G-
NM_001267550.2(TTN):c.93243C>T (p.Ala31081=)7273TTNBenign3731748RCV000040799|RCV000244309|RCV000289382|RCV000292385|RCV000347955|RCV000383878|RCV000394390|RCV001513444; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C18582179413110179413110ClinGen:CA284065CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.93071C>T (p.Thr31024Ile)7273TTNUncertain significance-1RCV003148036|RCV003148038|RCV003148035|RCV003148037|RCV003148039|RCV003148040; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0013412,MedGen:C1861065,OMIM:613765|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:00113622179413282179413282-
NM_001267550.2(TTN):c.93043G>C (p.Asp31015His)7273TTNUncertain significance-1RCV003148104|RCV003148103|RCV003148105|RCV003148106|RCV003148107|RCV003148108; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0013412,MedGen:C1861065,OMIM:613765|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:00113622179413310179413310-
NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile)7273TTNConflicting interpretations of pathogenicity200476500RCV000155822|RCV000172198|RCV000286331|RCV000282938|RCV000322760|RCV000380708|RCV000377371|RCV000466689|RCV002362824; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C186359921794135471794135472:g.179413547C>TClinGen:CA183583C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser)7273TTNConflicting interpretations of pathogenicity186234393RCV000249807|RCV000278867|RCV000315107|RCV000336224|RCV000373149|RCV000338023|RCV000397381|RCV000397369|RCV000461639|RCV000768859|RCV001084202|RCV001293190; NMedGen:CN230736|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MedGen:CN239310|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:6021794136541794136542:g.179413654T>CClinGen:CA310908CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln)7273TTNConflicting interpretations of pathogenicity200141081RCV000152188|RCV000172199|RCV000269133|RCV000309213|RCV000326590|RCV000367439|RCV000402112|RCV000619946|RCV000642884|RCV001798477; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011421794136691794136692:g.179413669C>TClinGen:CA178440CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.92671G>T (p.Glu30891Ter)7273TTNLikely pathogenic-1RCV003330302; NMONDO:MONDO:0013412,MedGen:C1861065,OMIM:613765; MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609; MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:1542179413682179413682-
NM_001267550.2(TTN):c.92590G>A (p.Asp30864Asn)7273TTNConflicting interpretations of pathogenicity200621611RCV000280857|RCV000268053|RCV000319148|RCV000360353|RCV000377684|RCV000643867|RCV001704928|RCV002271448|RCV002362960; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21794137631794137632:g.179413763C>TClinGen:CA310905C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.92506A>C (p.Thr30836Pro)7273TTNConflicting interpretations of pathogenicity762590394RCV000279338|RCV000349657|RCV000350645|RCV000371523|RCV000405703|RCV000871575; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21794138471794138472:g.179413847T>GClinGen:CA1987436CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.92454C>T (p.Pro30818=)7273TTNConflicting interpretations of pathogenicity771773845RCV000305866|RCV000307101|RCV000345585|RCV000395449|RCV000399321|RCV002057615|RCV003168502; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21794138991794138992:g.179413899G>AClinGen:CA10613032CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.92336G>C (p.Arg30779Thr)7273TTNUncertain significance1289817129RCV001134821|RCV001134823|RCV001134824|RCV001134822|RCV001134825; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21794140171794140172:g.179414017C>G-
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val)7273TTNBenign/Likely benign16866391RCV000040790|RCV000245293|RCV000265722|RCV000260244|RCV000299917|RCV000317829|RCV000388723|RCV000460055|RCV000768862|RCV000993507; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012121794141621794141622:g.179414162T>CClinGen:CA284041CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.92131G>A (p.Val30711Met)7273TTNBenign/Likely benign747122RCV000040788|RCV000252627|RCV000301698|RCV000341375|RCV000340281|RCV000394060|RCV000394080|RCV001517432; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011421794143181794143182:g.179414318C>TClinGen:CA284036CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.92058C>T (p.Asn30686=)7273TTNConflicting interpretations of pathogenicity545632095RCV000261221|RCV000273979|RCV000301245|RCV000313974|RCV000370975|RCV000727949|RCV001088384|RCV002356450; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MON21794143911794143912:g.179414391G>AClinGen:CA1987511CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.91879A>G (p.Ile30627Val)7273TTNConflicting interpretations of pathogenicity535151633RCV000156873|RCV000727085|RCV001130618|RCV001130620|RCV001130619|RCV001130621|RCV001130622; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011421794145701794145702:g.179414570T>CClinGen:CA185748CN169374 not specified;
NM_001267550.2(TTN):c.91871T>C (p.Val30624Ala)7273TTNUncertain significance886055231RCV000280936|RCV000279281|RCV000339232|RCV000338199|RCV000377731|RCV001770267; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MON21794145781794145782:g.179414578A>GClinGen:CA10611603CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.91852+8T>A7273TTNBenign/Likely benign56145100RCV000040784|RCV000310069|RCV000350604|RCV000368080|RCV000390081|RCV000398070|RCV000476452|RCV000993506; NMedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,21794147051794147052:g.179414705A>TClinGen:CA284030C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.91621G>A (p.Gly30541Arg)7273TTNConflicting interpretations of pathogenicity200854704RCV000040782|RCV000172620|RCV000282263|RCV000295443|RCV000316301|RCV000352604|RCV000373589|RCV000457779|RCV002362644; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C267367721794149441794149442:g.179414944C>TClinGen:CA141232C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.91601A>T (p.Asp30534Val)7273TTNConflicting interpretations of pathogenicity182549226RCV000040781|RCV000294400|RCV000307351|RCV000347053|RCV000359863|RCV000403395|RCV000723853|RCV001081378|RCV002362643|RCV003149661; NMedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,21794149641794149642:g.179414964T>AClinGen:CA141227C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.91565-13C>T7273TTNBenign/Likely benign200847757RCV000040779|RCV001133722|RCV001133723|RCV001133724|RCV001135210|RCV001135211|RCV001529821|RCV002054797; NMedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,21794150131794150132:g.179415013G>AClinGen:CA210979CN169374 not specified;
NM_001267550.2(TTN):c.91514T>C (p.Ile30505Thr)7273TTNUncertain significance1699227127RCV001130182|RCV001130179|RCV001130180|RCV001130181|RCV001135212; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21794157441794157442:g.179415744A>G-
NM_001267550.2(TTN):c.91373G>A (p.Ser30458Asn)7273TTNConflicting interpretations of pathogenicity376634713RCV000262504|RCV000296494|RCV000331575|RCV000332733|RCV000386114|RCV001570054|RCV002365395; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21794158851794158852:g.179415885C>TClinGen:CA1987639CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.91343G>A (p.Arg30448His)7273TTNConflicting interpretations of pathogenicity374474227RCV001135356|RCV001135359|RCV001135358|RCV001135355|RCV001135357|RCV002473203|RCV003150387; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,21794159151794159152:g.179415915C>T-
NM_001267550.2(TTN):c.91316T>C (p.Ile30439Thr)7273TTNUncertain significance561319486RCV001130317|RCV001130316|RCV001135360|RCV001135361|RCV001135362; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MON21794159421794159422:g.179415942A>G-
NM_001267550.2(TTN):c.91089G>A (p.Lys30363=)7273TTNBenign/Likely benign762103106RCV000558980|RCV000600137|RCV001840679|RCV001840680|RCV001840681|RCV001840682|RCV002358532; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp2179416538179416538NC_000002.11:g.179416538C>TClinGen:CA1987692C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys)7273TTNBenign/Likely benign11887722RCV000040772|RCV000249575|RCV000276129|RCV000272484|RCV000310929|RCV000326457|RCV000381058|RCV000476363|RCV000714114; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011421794166591794166592:g.179416659C>TClinGen:CA284015CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly)7273TTNConflicting interpretations of pathogenicity150430592RCV000040770|RCV000082445|RCV000278620|RCV000286969|RCV000327591|RCV000376846|RCV000373393|RCV000618823|RCV000852794|RCV001083184|RCV001798195; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C186359921794168011794168012:g.179416801A>CClinGen:CA141197CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.90652A>G (p.Thr30218Ala)7273TTNConflicting interpretations of pathogenicity768528782RCV000312839|RCV000314139|RCV000338390|RCV000349241|RCV000406601; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,21794169751794169752:g.179416975T>CClinGen:CA1987762CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His)7273TTNConflicting interpretations of pathogenicity149567378RCV000040766|RCV000082444|RCV000269727|RCV000310741|RCV000320246|RCV000365525|RCV000364179|RCV000617583|RCV000852796|RCV001083905|RCV001798194; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C186359921794170911794170912:g.179417091C>TClinGen:CA141188CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.90244A>G (p.Ile30082Val)7273TTNUncertain significance777636306RCV000282611|RCV000317803|RCV000318793|RCV000372414|RCV000379570|RCV000477042; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21794173831794173832:g.179417383T>CClinGen:CA1987813C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.89994G>A (p.Ser29998=)7273TTNBenign/Likely benign142891278RCV000040763|RCV000226927|RCV000617446|RCV001082920|RCV001131145|RCV001134102|RCV001134101|RCV001134103|RCV001134100; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:00113622179417633179417633ClinGen:CA284010
NM_001267550.2(TTN):c.89989T>A (p.Leu29997Met)7273TTNConflicting interpretations of pathogenicity369855092RCV000155823|RCV000289428|RCV000292921|RCV000352439|RCV000344162|RCV000387336|RCV000643752|RCV001798515|RCV002354376; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orp21794176381794176382:g.179417638A>TClinGen:CA183587C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.89924C>T (p.Ala29975Val)7273TTNConflicting interpretations of pathogenicity117097948RCV000304317|RCV000309343|RCV000354346|RCV000395131|RCV000395132; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MON21794177031794177032:g.179417703G>AClinGen:CA1987854CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.89479C>G (p.Pro29827Ala)7273TTNUncertain significance201620815RCV000259575|RCV000319559|RCV000330153|RCV000355635|RCV000388791|RCV003137942; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orph21794182531794182532:g.179418253G>CClinGen:CA10611606CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.89392T>A (p.Ser29798Thr)7273TTNUncertain significance886055232RCV000291322|RCV000295001|RCV000326555|RCV000346314|RCV000381121; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21794183401794183402:g.179418340A>TClinGen:CA10613035CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.89317A>T (p.Ile29773Leu)7273TTNBenign/Likely benign77853750RCV000040757|RCV000203965|RCV000270837|RCV000274110|RCV000300017|RCV000334039|RCV000368714|RCV000618137|RCV000769891|RCV001082098; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221794184151794184152:g.179418415T>AClinGen:CA284005CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.89136C>T (p.Asn29712=)7273TTNConflicting interpretations of pathogenicity376289479RCV000040754|RCV000867974|RCV001134365|RCV001134364|RCV001134366|RCV001135832|RCV001135831|RCV001703911|RCV002354220; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21794187021794187022:g.179418702G>AClinGen:CA141155CN169374 not specified;
NM_001267550.2(TTN):c.88992T>C (p.Asp29664=)7273TTNConflicting interpretations of pathogenicity201658018RCV000313083|RCV000335374|RCV000338706|RCV000373666|RCV000406194|RCV001475903; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,O21794188461794188462:g.179418846A>GClinGen:CA10613213CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.88954G>A (p.Val29652Ile)7273TTNUncertain significance756561910RCV001128838|RCV001128840|RCV001128839|RCV001128841|RCV001135833|RCV002281161; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21794188841794188842:g.179418884C>T-
NM_001267550.2(TTN):c.88951A>G (p.Thr29651Ala)7273TTNUncertain significance879233366RCV001128845|RCV001128842|RCV001128843|RCV001128844|RCV001131499; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21794188871794188872:g.179418887T>C-
NM_001267550.2(TTN):c.88895-18C>T7273TTNBenign547463003RCV000435051|RCV001840532|RCV001840534|RCV001840533|RCV001840535|RCV002061566; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673621794189611794189612:g.179418961G>AClinGen:CA1988020CN169374 not specified;
NM_001267550.2(TTN):c.88774A>G (p.Ile29592Val)7273TTNUncertain significance1700602244RCV001134489|RCV001134490|RCV001134491|RCV001134488|RCV001134492; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MON21794193001794193002:g.179419300T>C-
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys)7273TTNConflicting interpretations of pathogenicity200513274RCV000223660|RCV000301842|RCV000307858|RCV000359092|RCV000396053|RCV000404508|RCV000526235|RCV000509283|RCV000727677|RCV002354516; NMedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,21794193541794193542:g.179419354G>AClinGen:CA310790C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.88510G>A (p.Asp29504Asn)7273TTNBenign/Likely benign376679796RCV000040751|RCV000618971|RCV000643094|RCV001668168|RCV001839720|RCV001839721|RCV001839723|RCV001839722; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:001212721794196761794196762:g.179419676C>TClinGen:CA141146CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.88476C>G (p.Thr29492=)7273TTNBenign/Likely benign190406444RCV000040749|RCV000714110|RCV001086496|RCV001839716|RCV001839717|RCV001839718|RCV001839719|RCV002354218; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C18373422179419710179419710ClinGen:CA283995C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.88407G>A (p.Ala29469=)7273TTNBenign/Likely benign531445644RCV000152194|RCV000887825|RCV001840075|RCV001840076|RCV001840077|RCV001840078|RCV002354349|RCV002498709|RCV003326362; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21794197791794197792:g.179419779C>TClinGen:CA178453CN169374 not specified;
NM_001267550.2(TTN):c.88272G>A (p.Glu29424=)7273TTNBenign9808036RCV000040745|RCV000250427|RCV000275339|RCV000288341|RCV000326945|RCV000383980|RCV000389562|RCV001517434; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012121794216091794216092:g.179421609C>TClinGen:CA283990CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr)7273TTNBenign/Likely benign9808377RCV000040744|RCV000251022|RCV000285122|RCV000342422|RCV000339936|RCV000403222|RCV000402430|RCV000993503|RCV001513445; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C186321794216941794216942:g.179421694A>GClinGen:CA283985CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.88152G>A (p.Lys29384=)7273TTNBenign/Likely benign1206935877RCV000924650|RCV001480070|RCV001840770|RCV001840772|RCV001840771|RCV001840773; NMedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21794217291794217292:g.179421729C>T-
NM_001267550.2(TTN):c.88134A>G (p.Pro29378=)7273TTNConflicting interpretations of pathogenicity374612925RCV000276661|RCV000311836|RCV000356207|RCV000368821|RCV000394705|RCV000470428|RCV000728173|RCV001613083|RCV002356451; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21794217471794217472:g.179421747T>CClinGen:CA1988192C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.88090G>A (p.Gly29364Ser)7273TTNConflicting interpretations of pathogenicity183013408RCV000040742|RCV000270510|RCV000327903|RCV000334082|RCV000362829|RCV000384731|RCV000475243|RCV000618175|RCV000725444|RCV001798192; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orp21794217911794217912:g.179421791C>TClinGen:CA141118CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.88047G>A (p.Lys29349=)7273TTNUncertain significance748102856RCV001136153|RCV001136154|RCV001136155|RCV001136156|RCV001136152; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,O21794218341794218342:g.179421834C>T-
NM_001267550.2(TTN):c.88009+5G>A7273TTNUncertain significance148231754RCV000184394|RCV000231587|RCV001129182|RCV001129181|RCV001129183|RCV001136158|RCV001136157; NMedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orp2179421975179421975NC_000002.11:g.179421975C>TClinGen:CA309510C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile)7273TTNConflicting interpretations of pathogenicity141624266RCV000118785|RCV000040738|RCV000307938|RCV000313315|RCV000370289|RCV000403035|RCV000397868|RCV001080518|RCV001170318|RCV002354214; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C186359921794221811794221812:g.179422181C>TClinGen:CA141102C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.87781C>T (p.Pro29261Ser)7273TTNUncertain significance-1RCV003340939; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:6092179422208179422208-
NM_001267550.2(TTN):c.87600G>C (p.Met29200Ile)7273TTNConflicting interpretations of pathogenicity750362675RCV000614303|RCV000643213|RCV001129289|RCV001129286|RCV001129287|RCV001129288|RCV001129290|RCV001698079; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orp21794224811794224812:g.179422481C>GClinGen:CA1988293C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.87329C>T (p.Ala29110Val)7273TTNConflicting interpretations of pathogenicity763682832RCV000296535|RCV000309482|RCV000344377|RCV000388467|RCV000404617; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21794227521794227522:g.179422752G>AClinGen:CA1988331CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.87280G>A (p.Glu29094Lys)7273TTNConflicting interpretations of pathogenicity199501185RCV000259204|RCV000299316|RCV000305120|RCV000406021|RCV000359745|RCV000540529|RCV000727727|RCV002354512; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,O21794228011794228012:g.179422801C>TClinGen:CA310747C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.87137T>G (p.Met29046Arg)7273TTNConflicting interpretations of pathogenicity143975327RCV000154905|RCV000264981|RCV000270733|RCV000329578|RCV000389752|RCV000384089|RCV000457318|RCV002354368; NMedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,21794229441794229442:g.179422944A>CClinGen:CA181669C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.87087T>C (p.Leu29029=)7273TTNBenign/Likely benign12621078RCV000040729|RCV000243052|RCV000282145|RCV000337220|RCV000350111|RCV000385942|RCV000404840|RCV000461868|RCV000993500; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C186359921794230991794230992:g.179423099A>GClinGen:CA283975CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.86983G>A (p.Ala28995Thr)7273TTNConflicting interpretations of pathogenicity774191975RCV000303011|RCV000343285|RCV000357853|RCV000394606|RCV000404006|RCV000471925|RCV001531503; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MON21794232031794232032:g.179423203C>TClinGen:CA1988398C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.86949A>G (p.Glu28983=)7273TTNConflicting interpretations of pathogenicity375565646RCV000269714|RCV000725274|RCV001085091|RCV001132114|RCV001129401|RCV001129402|RCV001129403|RCV001129400|RCV002227467|RCV002356373; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221794232371794232372:g.179423237T>CClinGen:CA1988403CN169374 not specified;
NM_001267550.2(TTN):c.86935G>A (p.Val28979Ile)7273TTNConflicting interpretations of pathogenicity201687390RCV000172216|RCV000221192|RCV000274973|RCV000268777|RCV000308739|RCV000333135|RCV000363372|RCV001086505|RCV002354437; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C186321794232511794232512:g.179423251C>TClinGen:CA302422CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.86822-8T>G7273TTNUncertain significance-1RCV003147843|RCV003147845|RCV003147847|RCV003147848|RCV003147844|RCV003147846; NMONDO:MONDO:0013412,MedGen:C1861065,OMIM:613765|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|M2179423372179423372-
NM_001267550.2(TTN):c.86811A>G (p.Val28937=)7273TTNBenign/Likely benign55972010RCV000040726|RCV000247545|RCV000280956|RCV000317088|RCV000330035|RCV000375435|RCV000371748|RCV000456727|RCV001528418; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C26736772179424048179424048ClinGen:CA283970
NM_001267550.2(TTN):c.86259A>G (p.Leu28753=)7273TTNConflicting interpretations of pathogenicity886055233RCV000259283|RCV000283979|RCV000321288|RCV000354223|RCV000378376|RCV002521344|RCV003226283; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21794246001794246002:g.179424600T>CClinGen:CA10613037CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.86002A>G (p.Ile28668Val)7273TTNConflicting interpretations of pathogenicity72648225RCV000525045|RCV001134632|RCV001134633|RCV001134629|RCV001134631|RCV001134630|RCV001704925|RCV002354508|RCV003330547; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21794248571794248572:g.179424857T>CClinGen:CA310728C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.85691A>T (p.Lys28564Ile)7273TTNBenign/Likely benign199859344RCV000040716|RCV000456289|RCV001083745|RCV001839712|RCV001839713|RCV001839715|RCV001839714|RCV002354206; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221794251681794251682:g.179425168T>AClinGen:CA141030C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.85516C>A (p.Gln28506Lys)7273TTNConflicting interpretations of pathogenicity201272728RCV000154907|RCV000543680|RCV000621827|RCV001132347|RCV001132346|RCV001132343|RCV001132344|RCV001132345|RCV001704124; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C185876321794253431794253432:g.179425343G>TClinGen:CA181675CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.85462G>A (p.Val28488Ile)7273TTNConflicting interpretations of pathogenicity377264123RCV000268248|RCV000272440|RCV000304731|RCV000327501|RCV000359506|RCV000538168|RCV002356452|RCV003137943; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MON21794253971794253972:g.179425397C>TClinGen:CA1988636C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.85449C>T (p.Ile28483=)7273TTNConflicting interpretations of pathogenicity758811159RCV001133269|RCV001133270|RCV001133271|RCV001133268|RCV001134722|RCV001464460|RCV002354761; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21794254101794254102:g.179425410G>A-
NM_001267550.2(TTN):c.85383T>C (p.Asn28461=)7273TTNConflicting interpretations of pathogenicity886055235RCV000268848|RCV000293446|RCV000333216|RCV000348319|RCV000387727|RCV001471987; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21794254761794254762:g.179425476A>GClinGen:CA10613048CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.85334G>A (p.Cys28445Tyr)7273TTNUncertain significance773226749RCV001129732|RCV001129734|RCV001129731|RCV001129733|RCV000642857|RCV001129730|RCV002483832; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,O2179425525179425525NC_000002.11:g.179425525C>TClinGen:CA1988657C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.85243T>C (p.Leu28415=)7273TTNUncertain significance1703401045RCV001132440|RCV001132442|RCV001132441|RCV001132443|RCV001132444; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MON21794256161794256162:g.179425616A>G-
NM_001267550.2(TTN):c.84977G>A (p.Arg28326Gln)7273TTNConflicting interpretations of pathogenicity200843338RCV000040711|RCV000247193|RCV000305618|RCV000335949|RCV000341787|RCV000391984|RCV000406632|RCV000477567|RCV000726282|RCV001170551; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C183734221794258821794258822:g.179425882C>TClinGen:CA141014CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.84945T>A (p.Thr28315=)7273TTNBenign/Likely benign768116404RCV000869250|RCV001468778|RCV001840766|RCV001840767|RCV001840768|RCV001840769|RCV002352561; NMedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21794259141794259142:g.179425914A>T-
NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys)7273TTNConflicting interpretations of pathogenicity192152102RCV000172223|RCV000271594|RCV000277611|RCV000308136|RCV000302023|RCV000346588|RCV000362784|RCV001082315|RCV001170553|RCV002354439; NMedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858721794259881794259882:g.179425988G>AClinGen:CA302426C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.84696A>C (p.Glu28232Asp)7273TTNConflicting interpretations of pathogenicity397517730RCV000040709|RCV000274794|RCV000318173|RCV000332698|RCV000375092|RCV000387249|RCV000726293|RCV001087454|RCV002345326; NMedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21794261631794261632:g.179426163T>GClinGen:CA141005C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.84682C>T (p.Arg28228Cys)7273TTNConflicting interpretations of pathogenicity776756769RCV001129840|RCV001129841|RCV001132531|RCV001132530|RCV001132529|RCV002348572; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orph21794261771794261772:g.179426177G>A-
NM_001267550.2(TTN):c.84640A>G (p.Met28214Val)7273TTNConflicting interpretations of pathogenicity72648221RCV000460291|RCV000513233|RCV001132533|RCV001132534|RCV001132535|RCV001132536|RCV001132532|RCV001280557|RCV002348267|RCV003150216; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp2179426219179426219NC_000002.11:g.179426219T>CClinGen:CA1988755C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.84443C>G (p.Ala28148Gly)7273TTNConflicting interpretations of pathogenicity751860205RCV000313134|RCV000314119|RCV000344669|RCV000371371|RCV000402968; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21794264161794264162:g.179426416G>CClinGen:CA1988775CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.84385G>T (p.Val28129Phe)7273TTNConflicting interpretations of pathogenicity752974639RCV000764309|RCV001129924|RCV001129926|RCV001129923|RCV001129925|RCV001134957|RCV001170780|RCV001704921; N6 conditions|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,21794264741794264742:g.179426474C>AClinGen:CA310701CN169374 not specified;
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys)7273TTNBenign/Likely benign56057221RCV000040702|RCV000248670|RCV000284840|RCV000287691|RCV000344903|RCV000376816|RCV000384418|RCV000456597|RCV000769920|RCV001528819; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C183734221794265071794265072:g.179426507G>AClinGen:CA283941CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.83979T>C (p.Thr27993=)7273TTNConflicting interpretations of pathogenicity755164013RCV000271528|RCV000276369|RCV000325539|RCV000382436|RCV000386022|RCV002057616; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21794268801794268802:g.179426880A>GClinGen:CA1988852CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.83870G>C (p.Arg27957Thr)7273TTNConflicting interpretations of pathogenicity148067743RCV000040699|RCV000293712|RCV000336932|RCV000335686|RCV000375171|RCV000392066|RCV000475754|RCV000727431|RCV000852498|RCV002345323; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21794269891794269892:g.179426989C>GClinGen:CA140968C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.83827G>A (p.Gly27943Arg)7273TTNUncertain significance886055236RCV000269657|RCV000305320|RCV000308645|RCV000365690|RCV000406029; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MON21794270321794270322:g.179427032C>TClinGen:CA10611610CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala)7273TTNConflicting interpretations of pathogenicity200775919RCV000040697|RCV000172229|RCV000283706|RCV000320147|RCV000341923|RCV000372050|RCV000380228|RCV000559104|RCV000620676|RCV000764310; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012121794272411794272412:g.179427241A>GClinGen:CA140964CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.83600C>G (p.Pro27867Arg)7273TTNConflicting interpretations of pathogenicity374119634RCV001092230|RCV001135214|RCV001135216|RCV001135213|RCV001135217|RCV001135215|RCV002348553; NMedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,21794272591794272592:g.179427259G>C-
NM_001267550.2(TTN):c.83592C>G (p.Pro27864=)7273TTNConflicting interpretations of pathogenicity760755965RCV000310652|RCV000314665|RCV000341023|RCV000344977|RCV000390984|RCV000390560|RCV002521345; NMedGen:CN239352|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO21794272671794272672:g.179427267G>CClinGen:CA1988899CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.83416C>G (p.Arg27806Gly)7273TTNUncertain significance886055237RCV000267760|RCV000290228|RCV000320600|RCV000360185|RCV000377723; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MON21794274431794274432:g.179427443G>CClinGen:CA10613049CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.83315A>T (p.Asn27772Ile)7273TTNConflicting interpretations of pathogenicity578191491RCV000220460|RCV000302870|RCV000356701|RCV000357762|RCV000406858|RCV000402442|RCV000468138|RCV000769924|RCV001796725|RCV002345608; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,2179427544179427544NC_000002.11:g.179427544T>AClinGen:CA302890,ClinVar:424840C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.83192T>C (p.Leu27731Ser)7273TTNUncertain significance886055238RCV000280274|RCV000293143|RCV000333941|RCV000388554|RCV000407679; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MON21794276671794276672:g.179427667A>GClinGen:CA10613234CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.83059C>T (p.Leu27687=)7273TTNConflicting interpretations of pathogenicity200992636RCV000307668|RCV000643502|RCV001133980|RCV001133981|RCV001133982|RCV001133979|RCV001133978|RCV001705434|RCV003165779; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,21794278001794278002:g.179427800G>AClinGen:CA1988979C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile)7273TTNBenign/Likely benign56309296RCV000040689|RCV000253619|RCV000259436|RCV000284274|RCV000319243|RCV000332195|RCV000372601|RCV000467367|RCV000768899|RCV001530042; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221794278031794278032:g.179427803C>TClinGen:CA283919CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.82981C>T (p.Pro27661Ser)7273TTNConflicting interpretations of pathogenicity201422612RCV000285473|RCV000339356|RCV000345217|RCV000337312|RCV000379804|RCV000391200|RCV000642902|RCV002347997; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orp21794278781794278782:g.179427878G>AClinGen:CA1988990C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.82964G>A (p.Gly27655Asp)7273TTNUncertain significance373745130RCV000997373|RCV001130426|RCV001130422|RCV001130423|RCV001130424|RCV001130425|RCV002350443; NMedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858721794278951794278952:g.179427895C>TClinGen:CA1988994CN169374 not specified;
NM_001267550.2(TTN):c.82732A>G (p.Lys27578Glu)7273TTNConflicting interpretations of pathogenicity368850871RCV000314233|RCV000336400|RCV000356273|RCV000406935|RCV000406888|RCV000592500; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,21794281271794281272:g.179428127T>CClinGen:CA1989024CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.82692G>A (p.Ala27564=)7273TTNBenign/Likely benign557628408RCV000216906|RCV000873232|RCV001529462|RCV001840360|RCV001840361|RCV001840362|RCV001840363|RCV002347836|RCV002494565; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221794281671794281672:g.179428167C>TClinGen:CA1989028CN169374 not specified;
NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val)7273TTNConflicting interpretations of pathogenicity55634791RCV000040686|RCV000267329|RCV000302688|RCV000327142|RCV000362027|RCV000363058|RCV000724925|RCV001427304|RCV001798184|RCV002345320; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,21794281681794281682:g.179428168G>AUniProtKB:Q8WZ42#VAR_040270,ClinGen:CA140936CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.82658G>C (p.Gly27553Ala)7273TTNUncertain significance753766297RCV000278055|RCV000284042|RCV000338036|RCV000339140|RCV000407739|RCV002487469; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21794282011794282012:g.179428201C>GClinGen:CA1989031CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.82497C>T (p.Thr27499=)7273TTNBenign/Likely benign199629314RCV000040683|RCV000231094|RCV000287495|RCV000319388|RCV000341413|RCV000376463|RCV000400112|RCV000768903|RCV001528651|RCV002345319; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orp2179428362179428362ClinGen:CA283899C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.82408C>A (p.Pro27470Thr)7273TTNUncertain significance886055239RCV000310018|RCV000315326|RCV000344759|RCV000348375|RCV000391282|RCV002348077; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21794284511794284512:g.179428451G>TClinGen:CA10613238CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.82402A>C (p.Lys27468Gln)7273TTNConflicting interpretations of pathogenicity201958805RCV000040681|RCV000300172|RCV000322064|RCV000357436|RCV000353764|RCV000456607|RCV000768905|RCV000787943|RCV000997376|RCV002345318; NMedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp2179428457179428457NC_000002.11:g.179428457T>GClinGen:CA140922C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.82385C>A (p.Thr27462Lys)7273TTNBenign/Likely benign55933739RCV000040680|RCV000206472|RCV000251636|RCV000290881|RCV000326051|RCV000348003|RCV000378955|RCV000382877|RCV000768906|RCV001084402|RCV002496649; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:001136221794284741794284742:g.179428474G>TClinGen:CA283894CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.82328G>A (p.Arg27443His)7273TTNUncertain significance551496477RCV000509369|RCV000734999; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MedGen:CN51720221794285311794285312:g.179428531C>TClinGen:CA60987121C1838244 600334 Distal myopathy Markesbery-Griggs type;
NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys)7273TTNConflicting interpretations of pathogenicity201489661RCV000172237|RCV000259150|RCV000296920|RCV000335482|RCV000294267|RCV000351562|RCV000386155|RCV001085422|RCV002345592|RCV003150040; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,21794286241794286242:g.179428624G>TClinGen:CA302434C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.82133A>C (p.Lys27378Thr)7273TTNUncertain significance886055240RCV000268986|RCV000326430|RCV000330270|RCV000383420|RCV000387086|RCV002348078; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21794287261794287262:g.179428726T>GClinGen:CA10613242CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.82081C>G (p.Pro27361Ala)7273TTNBenign/Likely benign56137800RCV000040677|RCV000172629|RCV000241922|RCV000280957|RCV000295120|RCV000338290|RCV000373133|RCV000402006|RCV000768907|RCV000852806|RCV001082298; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:001121794287781794287782:g.179428778G>CClinGen:CA140908CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.82070C>G (p.Thr27357Arg)7273TTNConflicting interpretations of pathogenicity754175266RCV000687721|RCV001131503|RCV001131500|RCV001131501|RCV001131502|RCV001131504|RCV001289396; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MON21794287891794287892:g.179428789G>C-C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.82021C>T (p.Arg27341Trp)7273TTNUncertain significance746488250RCV000600711|RCV001131505|RCV001134495|RCV001134494|RCV001134496|RCV001134493|RCV002266991; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21794288381794288382:g.179428838G>AClinGen:CA1989126CN169374 not specified;
NM_001267550.2(TTN):c.82019T>A (p.Ile27340Lys)7273TTNUncertain significance371592971RCV000472297|RCV001809344; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:6092179428840179428840NC_000002.11:g.179428840A>TClinGen:CA1989127C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.81938G>A (p.Gly27313Glu)7273TTNConflicting interpretations of pathogenicity199670463RCV000152203|RCV000274661|RCV000260100|RCV000332173|RCV000366979|RCV000370450|RCV000643482|RCV000768909|RCV001704096|RCV002345480; NMedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858721794289211794289212:g.179428921C>TClinGen:CA178475C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.81892G>A (p.Asp27298Asn)7273TTNConflicting interpretations of pathogenicity200697681RCV000172630|RCV000768911|RCV001128964|RCV001135948|RCV001088746|RCV001128965|RCV001135949|RCV001128966|RCV002345597; NMedGen:C3661900|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011400,MedGen:21794289671794289672:g.179428967C>TClinGen:CA238471C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.81600C>G (p.Ser27200Arg)7273TTNUncertain significance773107849RCV001131630|RCV001131629|RCV001131631|RCV001131632|RCV001131633; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21794292591794292592:g.179429259G>C-
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=)7273TTNConflicting interpretations of pathogenicity56181243RCV000040669|RCV000243142|RCV000289639|RCV000311788|RCV000343025|RCV000392160|RCV000401208|RCV000756835|RCV000768912|RCV001083853; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011421794293011794293012:g.179429301A>GClinGen:CA283879CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.81523G>A (p.Gly27175Ser)7273TTNConflicting interpretations of pathogenicity749305586RCV000261667|RCV000315436|RCV000319078|RCV000354170|RCV000368850; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21794293361794293362:g.179429336C>TClinGen:CA1989198CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.81373A>C (p.Thr27125Pro)7273TTNUncertain significance1362825687RCV001132656|RCV001136040|RCV001136037|RCV001136038|RCV001136039; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,O21794294861794294862:g.179429486T>G-
NM_001267550.2(TTN):c.81217C>T (p.Pro27073Ser)7273TTNConflicting interpretations of pathogenicity542799302RCV000287717|RCV000322724|RCV000326365|RCV000357556|RCV000379772; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21794296421794296422:g.179429642G>AClinGen:CA1989238CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.81105C>A (p.Thr27035=)7273TTNConflicting interpretations of pathogenicity72648212RCV000040665|RCV000620096|RCV000726275|RCV001080788|RCV001129079|RCV001129078|RCV001131746|RCV001131748|RCV001131747|RCV001170787; NMedGen:CN169374|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:00127142179429754179429754ClinGen:CA283874
NM_001267550.2(TTN):c.81017G>T (p.Ser27006Ile)7273TTNUncertain significance886055241RCV000279918|RCV000334875|RCV000338510|RCV000374431|RCV000383331; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MON21794298421794298422:g.179429842C>AClinGen:CA10612033CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.80983G>A (p.Glu26995Lys)7273TTNConflicting interpretations of pathogenicity397517719RCV000040663|RCV000617992|RCV000726121|RCV001079917|RCV001132748|RCV001132749|RCV001132747|RCV001136160|RCV001136159|RCV001798182; NMedGen:CN169374|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:001140021794298761794298762:g.179429876C>TClinGen:CA140873CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.80904C>T (p.Ile26968=)7273TTNConflicting interpretations of pathogenicity539234338RCV000262837|RCV000318137|RCV000351987|RCV000372731|RCV000387307|RCV002348079|RCV002521346; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21794299551794299552:g.179429955G>AClinGen:CA1989281CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.80890A>G (p.Asn26964Asp)7273TTNUncertain significance886055242RCV000292961|RCV000344296|RCV000347860|RCV000398429|RCV000408343; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MON21794299691794299692:g.179429969T>CClinGen:CA10613063CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.80882C>T (p.Ala26961Val)7273TTNConflicting interpretations of pathogenicity749194310RCV000261531|RCV000265016|RCV000297529|RCV000304573|RCV000301478|RCV000356308|RCV000526427|RCV001798768|RCV002347988; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,21794299771794299772:g.179429977G>AClinGen:CA1989287C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met)7273TTNConflicting interpretations of pathogenicity377506142RCV000155780|RCV000172245|RCV000254311|RCV000291098|RCV000316713|RCV000330851|RCV000371276|RCV000385420|RCV001078567|RCV001170788|RCV001293186; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|M21794300011794300012:g.179430001G>AClinGen:CA183467CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.80854G>A (p.Val26952Ile)7273TTNConflicting interpretations of pathogenicity371362606RCV000176798|RCV000287638|RCV000284771|RCV000327344|RCV000342639|RCV000401115|RCV000464328|RCV001778772|RCV002345609; NMedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858721794300051794300052:g.179430005C>TClinGen:CA242835C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val)7273TTNConflicting interpretations of pathogenicity201562505RCV000152207|RCV000273789|RCV000325455|RCV000270152|RCV000364915|RCV000369763|RCV000471832|RCV000617421|RCV000769931|RCV000852807|RCV001249283|RCV001530137; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,21794301581794301582:g.179430158T>CClinGen:CA248764CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.80586C>T (p.Ser26862=)7273TTNConflicting interpretations of pathogenicity748292845RCV000278202|RCV000312374|RCV000367597|RCV000399453|RCV000401256|RCV000445100|RCV000727491|RCV001086740|RCV002348080; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21794302731794302732:g.179430273G>AClinGen:CA1989326CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.80554C>T (p.Arg26852Cys)7273TTNConflicting interpretations of pathogenicity185887755RCV000259093|RCV000723773|RCV001132948|RCV001132950|RCV001132946|RCV001132947|RCV001132949|RCV002345491; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,21794303051794303052:g.179430305G>AClinGen:CA295646CN169374 not specified;
NM_001267550.2(TTN):c.80484C>G (p.Ser26828Arg)7273TTNUncertain significance886055243RCV000262505|RCV000265841|RCV000317678|RCV000372563|RCV000375943; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orph21794303751794303752:g.179430375G>CClinGen:CA10611616CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.80145C>G (p.Val26715=)7273TTNConflicting interpretations of pathogenicity761074887RCV000285641|RCV000331440|RCV000343928|RCV000382160|RCV000383423|RCV000769936; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,O21794307141794307142:g.179430714G>CClinGen:CA1989386CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.79885G>C (p.Glu26629Gln)7273TTNUncertain significance727504673RCV000155941|RCV001132238|RCV001132240|RCV001132239|RCV001132241|RCV001132237|RCV002478460|RCV003137673; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673621794309741794309742:g.179430974C>GClinGen:CA183828CN169374 not specified;
NM_001267550.2(TTN):c.79856G>A (p.Arg26619His)7273TTNConflicting interpretations of pathogenicity530507211RCV000184862|RCV000270696|RCV000283370|RCV000322095|RCV000323369|RCV000380163|RCV001085916|RCV002345656; NMedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,21794310031794310032:g.179431003C>TClinGen:CA310617C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.79599_79621del (p.Glu26533fs)7273TTNLikely pathogenic1312613088RCV001199156; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:60921794312381794312602:g.179431238_179431260del-
NM_001267550.2(TTN):c.79265T>C (p.Ile26422Thr)7273TTNBenign/Likely benign3731745RCV000040643|RCV000241932|RCV000266045|RCV000324814|RCV000318828|RCV000358458|RCV000375690|RCV000473269|RCV000993490; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011421794315941794315942:g.179431594A>GClinGen:CA283818CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.79106T>C (p.Val26369Ala)7273TTNUncertain significance1706144836RCV001129735|RCV001129736|RCV001129737|RCV001129738|RCV001132448; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21794317531794317532:g.179431753A>G-
NM_001267550.2(TTN):c.79103G>T (p.Gly26368Val)7273TTNUncertain significance371325635RCV000243973|RCV001132450|RCV001132451|RCV001132452|RCV001132453|RCV001132449; NMedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858721794317561794317562:g.179431756C>AClinGen:CA10587474CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.79062T>A (p.Gly26354=)7273TTNBenign3731744RCV000040640|RCV000250059|RCV000263297|RCV000276164|RCV000303168|RCV000355750|RCV000354107|RCV000470851; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:001212179431797179431797ClinGen:CA283813
NM_001267550.2(TTN):c.78991C>A (p.Arg26331=)7273TTNBenign/Likely benign779996703RCV000610493|RCV001511261|RCV001840701|RCV001840702|RCV001840703|RCV001840704|RCV002491277; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21794318681794318682:g.179431868G>TClinGen:CA1989541CN169374 not specified;
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=)7273TTNConflicting interpretations of pathogenicity139953862RCV000152211|RCV000299956|RCV000287130|RCV000345493|RCV000339540|RCV000379204|RCV000725001|RCV001079314|RCV002336301|RCV003149924; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,21794320041794320042:g.179432004A>GClinGen:CA178495C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.78774A>G (p.Arg26258=)7273TTNConflicting interpretations of pathogenicity368270588RCV000154914|RCV000725849|RCV001129843|RCV001129842|RCV001129844|RCV001129845|RCV001129846|RCV001426417|RCV002336325; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012721794320851794320852:g.179432085T>CClinGen:CA181703CN169374 not specified;
NM_001267550.2(TTN):c.78662C>T (p.Pro26221Leu)7273TTNUncertain significance912454417RCV001133453|RCV001133454|RCV001133455|RCV001133456|RCV001133457|RCV002480508; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,O21794321971794321972:g.179432197G>A-
NM_001267550.2(TTN):c.78654T>C (p.His26218=)7273TTNConflicting interpretations of pathogenicity886055244RCV000272128|RCV000321296|RCV000329566|RCV000368961|RCV000381870|RCV002057617|RCV002338921; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MON21794322051794322052:g.179432205A>GClinGen:CA10612039CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.78401G>A (p.Arg26134His)7273TTNConflicting interpretations of pathogenicity377668457RCV000282564|RCV000336442|RCV000337388|RCV000372311|RCV000380556|RCV002348081|RCV003137944; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MON21794324581794324582:g.179432458C>TClinGen:CA1989607CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.78382C>T (p.Arg26128Cys)7273TTNUncertain significance373530641RCV001129927|RCV001129928|RCV001129929|RCV001130630|RCV001130631; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MON21794324771794324772:g.179432477G>A-
NM_001267550.2(TTN):c.78371T>A (p.Ile26124Asn)7273TTNConflicting interpretations of pathogenicity778290450RCV000292975|RCV000301078|RCV000362867|RCV000352547|RCV000397609|RCV000643214|RCV000400050|RCV001798772|RCV002338838; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,21794324881794324882:g.179432488A>TClinGen:CA1989615C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.78193G>A (p.Val26065Met)7273TTNUncertain significance1371536406RCV001130632|RCV001133587|RCV001133588|RCV001133589|RCV001133586; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21794326661794326662:g.179432666C>T-
NM_001267550.2(TTN):c.77913T>C (p.Tyr25971=)7273TTNConflicting interpretations of pathogenicity72648203RCV000613190|RCV000643038|RCV001133590|RCV001133591|RCV001135078|RCV001133592|RCV001133593|RCV001719124|RCV002334014; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orp21794329461794329462:g.179432946A>GClinGen:CA1989691C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.77813G>C (p.Trp25938Ser)7273TTNConflicting interpretations of pathogenicity186681106RCV000040631|RCV000264343|RCV000324153|RCV000359085|RCV000360289|RCV000389951|RCV000476610|RCV000768918|RCV001081320|RCV002336150; NMedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,21794330461794330462:g.179433046C>GClinGen:CA140792C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys)7273TTNConflicting interpretations of pathogenicity56341835RCV000118781|RCV000154916|RCV000260854|RCV000280942|RCV000316126|RCV000375446|RCV000385773|RCV001081879|RCV002336260; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221794331431794331432:g.179433143C>TClinGen:CA181709C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.77649C>T (p.Ile25883=)7273TTNConflicting interpretations of pathogenicity747430905RCV000287862|RCV000296139|RCV000350957|RCV000347468|RCV000397141|RCV001497900; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21794332101794332102:g.179433210G>AClinGen:CA1989736CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.77639C>T (p.Thr25880Ile)7273TTNUncertain significance1332594097RCV001133728|RCV001135218|RCV001135221|RCV001135219|RCV001135220|RCV003142067; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21794332201794332202:g.179433220G>A-
NM_001267550.2(TTN):c.77561C>T (p.Thr25854Ile)7273TTNUncertain significance886055245RCV000274216|RCV000289633|RCV000318714|RCV000334093|RCV000368890|RCV000388578; NHuman Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MedGen:CN239310|MedGen:CN239352|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:2821794332981794332982:g.179433298G>AClinGen:CA10611617CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.77249G>A (p.Arg25750Gln)7273TTNConflicting interpretations of pathogenicity368038362RCV000176815|RCV000617448|RCV000768920|RCV001130187|RCV001130188|RCV001130888|RCV001130889|RCV001130890; NMedGen:C3661900|MedGen:CN230736|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO21794336101794336102:g.179433610C>TClinGen:CA242859CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.77205G>A (p.Val25735=)7273TTNConflicting interpretations of pathogenicity55857909RCV000040625|RCV000618047|RCV000714098|RCV001086724|RCV001130893|RCV001130895|RCV001130891|RCV001130892|RCV001130894; NMedGen:CN169374|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:001212721794336541794336542:g.179433654C>TClinGen:CA140774CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His)7273TTNConflicting interpretations of pathogenicity369707906RCV000223093|RCV000297719|RCV000312841|RCV000338766|RCV000342317|RCV000398493|RCV000395107|RCV000714096|RCV000852810|RCV001079555|RCV002336490|RCV003150073; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:3421794339371794339372:g.179433937C>TClinGen:CA310554C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.76803G>A (p.Thr25601=)7273TTNBenign/Likely benign751627427RCV000608361|RCV001493888|RCV001840713|RCV001840715|RCV001840714|RCV001840716; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21794340561794340562:g.179434056C>TClinGen:CA1989856CN169374 not specified;
NM_001267550.2(TTN):c.76673A>T (p.Asp25558Val)7273TTNConflicting interpretations of pathogenicity201095164RCV000040618|RCV000172252|RCV000271372|RCV000303107|RCV000306562|RCV000365850|RCV000400010|RCV001085393|RCV003448252; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C186321794341861794341862:g.179434186T>AClinGen:CA140756CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.76483G>A (p.Val25495Ile)7273TTNConflicting interpretations of pathogenicity773127796RCV000887823|RCV001130428|RCV001087517|RCV001135506|RCV001135504|RCV001130427|RCV001135505; NMedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orp21794343761794343762:g.179434376C>T-
NM_001267550.2(TTN):c.76343G>A (p.Ser25448Asn)7273TTNBenign/Likely benign3813243RCV000040617|RCV000251680|RCV000260021|RCV000323200|RCV000319913|RCV000373158|RCV000374452|RCV000460556; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012721794345161794345162:g.179434516C>TClinGen:CA283776CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.75983C>T (p.Pro25328Leu)7273TTNUncertain significance758581188RCV000263672|RCV000276395|RCV000299127|RCV000356101|RCV000368925; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21794348761794348762:g.179434876G>AClinGen:CA1989973CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.75977A>G (p.Glu25326Gly)7273TTNUncertain significance767430531RCV001135608|RCV001135609|RCV001135610|RCV001135611|RCV001135612|RCV003142071; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21794348821794348822:g.179434882T>C-
NM_001267550.2(TTN):c.75969T>C (p.Val25323=)7273TTNConflicting interpretations of pathogenicity368759398RCV000283572|RCV000289220|RCV000328072|RCV000333780|RCV000381301|RCV000427377|RCV000866981|RCV002328851|RCV003137945; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MON21794348901794348902:g.179434890A>GClinGen:CA1989975CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.75706G>A (p.Asp25236Asn)7273TTNUncertain significance1707754880RCV001131276|RCV001134231|RCV001134232|RCV001134233|RCV001134234; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MON21794351531794351532:g.179435153C>T-
NM_001267550.2(TTN):c.75634G>C (p.Val25212Leu)7273TTNUncertain significance1707781335RCV001134235|RCV001134237|RCV001134236|RCV001134238|RCV001135735; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,O21794352251794352252:g.179435225C>G-
NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn)7273TTNConflicting interpretations of pathogenicity192468365RCV000214060|RCV000325463|RCV000277330|RCV000312104|RCV000369619|RCV000400221|RCV000474321|RCV000731447|RCV002338688|RCV003448289; NMedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673621794353691794353692:g.179435369C>TClinGen:CA1990042C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.75366G>A (p.Val25122=)7273TTNConflicting interpretations of pathogenicity750424357RCV001134373|RCV001134374|RCV001134375|RCV001134372|RCV001134376|RCV002327407|RCV002556874; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MON21794354931794354932:g.179435493C>T-
NM_001267550.2(TTN):c.75194A>G (p.His25065Arg)7273TTNConflicting interpretations of pathogenicity182161195RCV000315306|RCV000344514|RCV000365719|RCV000393320|RCV000401598|RCV000862066; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,O21794356651794356652:g.179435665T>CClinGen:CA1990089CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.75158G>C (p.Trp25053Ser)7273TTNConflicting interpretations of pathogenicity748412838RCV000264049|RCV000268546|RCV000316644|RCV000359836|RCV000373706|RCV003137946; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21794357011794357012:g.179435701C>GClinGen:CA1990091CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.75053T>C (p.Val25018Ala)7273TTNUncertain significance745832906RCV000714091|RCV001134498|RCV001134499|RCV001134500|RCV001134501|RCV001134497|RCV002334405|RCV002485797; NMedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,2179435806179435806NC_000002.11:g.179435806A>G-
NM_001267550.2(TTN):c.75034C>T (p.Arg25012Trp)7273TTNConflicting interpretations of pathogenicity368914555RCV000040605|RCV000464020|RCV001093053|RCV001134502|RCV001134504|RCV001134503|RCV001135950|RCV001135951|RCV001171268|RCV001293087|RCV002336148; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C185876321794358251794358252:g.179435825G>AClinGen:CA140718C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr)7273TTNBenign/Likely benign744427RCV000040603|RCV000262739|RCV000294360|RCV000351576|RCV000386214|RCV000389508|RCV000465153|RCV000621310|RCV001530008; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,21794358871794358872:g.179435887A>GClinGen:CA283749CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.74961C>T (p.Asn24987=)7273TTNConflicting interpretations of pathogenicity754043680RCV000215599|RCV001128967|RCV001128968|RCV001128969|RCV001128970|RCV001135952|RCV001495271|RCV002338674; NMedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21794358981794358982:g.179435898G>AClinGen:CA1990121CN169374 not specified;
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly)7273TTNConflicting interpretations of pathogenicity573415766RCV000216300|RCV000284422|RCV000396489|RCV000278714|RCV000328950|RCV000341722|RCV000376348|RCV000725210|RCV001086254; NMedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MedGen:CN239310|MedGen:CN239352|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|H21794363101794363102:g.179436310T>CClinGen:CA1990181C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.74508T>C (p.Asp24836=)7273TTNConflicting interpretations of pathogenicity1060503924RCV000463302|RCV001129083|RCV001129084|RCV001129085|RCV001129086|RCV001129082|RCV002341067; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MON2179436351179436351NC_000002.11:g.179436351A>GClinGen:CA16610308C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.74339G>A (p.Arg24780Gln)7273TTNUncertain significance776673912RCV000555738|RCV001129087|RCV001131757|RCV001131755|RCV001131754|RCV001131756|RCV002476169|RCV003139825; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21794365201794365202:g.179436520C>TClinGen:CA1990209C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.74190T>G (p.Gly24730=)7273TTNBenign/Likely benign201797603RCV000242851|RCV001171274|RCV001840441|RCV001840440|RCV001840442|RCV001840443; NMedGen:CN230736|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedG2179436669179436669NC_000002.11:g.179436669A>CClinGen:CA1990241CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln)7273TTNConflicting interpretations of pathogenicity55762754RCV000040592|RCV000247787|RCV000301041|RCV000314072|RCV000336155|RCV000367543|RCV000396511|RCV000458685|RCV000769945|RCV001083733|RCV002223143; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011421794370341794370342:g.179437034C>GClinGen:CA140683,UniProtKB:Q8WZ42#VAR_040239CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.73776G>A (p.Arg24592=)7273TTNUncertain significance886055247RCV000273551|RCV000319157|RCV000332127|RCV000368108|RCV000371073; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,21794370831794370832:g.179437083C>TClinGen:CA10611618CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.73563C>G (p.Gly24521=)7273TTNConflicting interpretations of pathogenicity756809007RCV000290915|RCV000315489|RCV000345857|RCV000369773|RCV000406615|RCV002057620|RCV002338924; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MON21794372961794372962:g.179437296G>CClinGen:CA1990351CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.73517G>A (p.Gly24506Asp)7273TTNConflicting interpretations of pathogenicity567446185RCV000528939|RCV000610035|RCV001131868|RCV001131871|RCV001131869|RCV001131870|RCV001131872|RCV001571924; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp2179437342179437342NC_000002.11:g.179437342C>TClinGen:CA1990358C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.73491T>C (p.Tyr24497=)7273TTNConflicting interpretations of pathogenicity545377175RCV001131873|RCV001132856|RCV001132858|RCV001132855|RCV001132857|RCV001702879|RCV002327406|RCV001439876|RCV001700975; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,O21794373681794373682:g.179437368A>G-
NM_001267550.2(TTN):c.73304G>A (p.Arg24435His)7273TTNUncertain significance794727456RCV000176833|RCV000298781|RCV000311590|RCV000353719|RCV000357020|RCV000394646|RCV002503678; NMedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21794375551794375552:g.179437555C>TClinGen:CA242892CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.73124C>T (p.Pro24375Leu)7273TTNUncertain significance376041680RCV000215178|RCV001129293|RCV001129294|RCV001129295|RCV001136275|RCV001136276|RCV001556870|RCV002500719; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,21794377351794377352:g.179437735G>AClinGen:CA1990418CN169374 not specified;
NM_001267550.2(TTN):c.72906T>A (p.Ala24302=)7273TTNBenign/Likely benign773886758RCV000327146|RCV000643622|RCV001705428|RCV001840476|RCV001840477|RCV001840478|RCV001840479|RCV002338851; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221794379531794379532:g.179437953A>TClinGen:CA1990440C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.72782G>A (p.Arg24261Gln)7273TTNConflicting interpretations of pathogenicity142874389RCV000040587|RCV000172641|RCV000288602|RCV000343679|RCV000349884|RCV000388861|RCV000397203|RCV001080138|RCV002336145|RCV003149657; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C185821794380771794380772:g.179438077C>TClinGen:CA140664C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.72766A>G (p.Asn24256Asp)7273TTNConflicting interpretations of pathogenicity187868672RCV000265766|RCV000300684|RCV000337171|RCV000361406|RCV000397204|RCV000725272|RCV001081316|RCV002227452|RCV002326968; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21794380931794380932:g.179438093T>CClinGen:CA302882C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.72624A>G (p.Pro24208=)7273TTNBenign/Likely benign56293906RCV000040586|RCV000228478|RCV000271701|RCV000277214|RCV000326784|RCV000366295|RCV000381449|RCV000619087|RCV000769953|RCV001528463; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,2179438235179438235ClinGen:CA283734CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.72497G>A (p.Ser24166Asn)7273TTNUncertain significance886055248RCV000279251|RCV000292381|RCV000332217|RCV000337910|RCV000386688; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21794383621794383622:g.179438362C>TClinGen:CA10613083CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.72487C>T (p.Arg24163Cys)7273TTNUncertain significance778284888RCV000544029|RCV001132121|RCV001132117|RCV001132118|RCV001132119|RCV001132120|RCV002279349|RCV002491049; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:2179438372179438372NC_000002.11:g.179438372G>AClinGen:CA61000018C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.72379G>A (p.Glu24127Lys)7273TTNConflicting interpretations of pathogenicity149763294RCV000040582|RCV000285232|RCV000310657|RCV000334264|RCV000396450|RCV000403418|RCV000725033|RCV001083817|RCV001170337|RCV002336144; NMedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,21794384801794384802:g.179438480C>TClinGen:CA140644C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.72232A>G (p.Ile24078Val)7273TTNUncertain significance876658080RCV000222008|RCV000276789|RCV000365314|RCV000396307|RCV000307396|RCV000331394|RCV000642733|RCV000725805; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21794386271794386272:g.179438627T>CClinGen:CA10576487C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.72226T>G (p.Leu24076Val)7273TTNConflicting interpretations of pathogenicity202098308RCV001129506|RCV001129505|RCV001129507|RCV001136491|RCV001136492|RCV002327404|RCV001532418; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,O21794386331794386332:g.179438633A>C-
NM_001267550.2(TTN):c.72166C>A (p.Arg24056Ser)7273TTNUncertain significance372662393RCV000263422|RCV000278981|RCV000318621|RCV000324714|RCV000367334; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MON21794386931794386932:g.179438693G>TClinGen:CA10611620CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.72149A>G (p.Glu24050Gly)7273TTNConflicting interpretations of pathogenicity771209223RCV001132246|RCV001132242|RCV001132243|RCV001132244|RCV001132245|RCV003142064; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orph21794387101794387102:g.179438710T>C-
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro)7273TTNConflicting interpretations of pathogenicity56399205RCV000172264|RCV000248880|RCV000259146|RCV000282942|RCV000288822|RCV000379211|RCV000347355|RCV000404979|RCV000769955|RCV000852813|RCV001084205|RCV002227932; NMedGen:C3661900|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MOND21794387131794387132:g.179438713A>GClinGen:CA302449CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=)7273TTNConflicting interpretations of pathogenicity56169243RCV000040578|RCV000205454|RCV000249434|RCV000300762|RCV000313330|RCV000355560|RCV000393450|RCV000393452|RCV001081981|RCV001170340|RCV002226451; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:00113622179438727179438727ClinGen:CA283729CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.71993G>A (p.Arg23998His)7273TTNBenign10164753RCV000040575|RCV000245379|RCV000292464|RCV000334510|RCV000349621|RCV000398105|RCV000401948|RCV001517436; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012721794388661794388662:g.179438866C>TClinGen:CA283719CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.71833T>C (p.Trp23945Arg)7273TTNConflicting interpretations of pathogenicity553796385RCV000280236|RCV000302427|RCV000342223|RCV000372071|RCV000403345; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,O21794390261794390262:g.179439026A>GClinGen:CA1990582CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.71612T>C (p.Ile23871Thr)7273TTNUncertain significance770250820RCV001132455|RCV001132454|RCV001133358|RCV001133356|RCV001133357; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MON21794392471794392472:g.179439247A>G-
NM_001267550.2(TTN):c.71553T>A (p.Leu23851=)7273TTNConflicting interpretations of pathogenicity373388052RCV001133360|RCV001133359|RCV001133361|RCV001133362|RCV001133363|RCV002070561; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21794393061794393062:g.179439306A>T-
NM_001267550.2(TTN):c.71544T>G (p.His23848Gln)7273TTNUncertain significance-1RCV003148154|RCV003148153|RCV003148155|RCV003148156|RCV003148157|RCV003148158; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0013412,MedGen:C1861065,OMIM:613765|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:00113622179439315179439315-
NM_001267550.2(TTN):c.71369G>A (p.Arg23790His)7273TTNBenign/Likely benign55677134RCV000040568|RCV000172644|RCV000244382|RCV000289089|RCV000311329|RCV000350999|RCV000368217|RCV000405041|RCV000768935|RCV001083765; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|M21794394901794394902:g.179439490C>TClinGen:CA140603CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.70998A>G (p.Thr23666=)7273TTNBenign/Likely benign767989384RCV000245702|RCV000396572|RCV000470054|RCV001840448|RCV001840450|RCV001840451|RCV001840449|RCV003114433; NMedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C186359921794398611794398612:g.179439861T>CClinGen:CA1990690CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.70907G>A (p.Arg23636His)7273TTNBenign/Likely benign56071233RCV000082426|RCV000241993|RCV000264153|RCV000291940|RCV000325886|RCV000382718|RCV000383142|RCV000461091|RCV000852815|RCV001573402; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012121794399521794399522:g.179439952C>TClinGen:CA149430CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val)7273TTNConflicting interpretations of pathogenicity72646891RCV000040564|RCV000227732|RCV000249890|RCV000294398|RCV000295463|RCV000337737|RCV000352767|RCV000390725|RCV000768940|RCV001081336; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|M21794400271794400272:g.179440027G>AClinGen:CA283702CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.70830C>T (p.Ser23610=)7273TTNBenign12464787RCV000040563|RCV000247860|RCV000297946|RCV000306054|RCV000355113|RCV000358526|RCV000398179|RCV000993478|RCV001514401; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C18582179440029179440029ClinGen:CA283697
NM_001267550.2(TTN):c.70815G>A (p.Val23605=)7273TTNConflicting interpretations of pathogenicity55847238RCV000040562|RCV000247125|RCV000270031|RCV000273614|RCV000328195|RCV000362297|RCV000389086|RCV000513284|RCV000768941|RCV001082634; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C18635992179440044179440044ClinGen:CA283692
NM_001267550.2(TTN):c.70784T>C (p.Leu23595Pro)7273TTNUncertain significance886055249RCV000285511|RCV000331005|RCV000334641|RCV000373930|RCV000372966|RCV003137947; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MON21794400751794400752:g.179440075A>GClinGen:CA10613248CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg)7273TTNBenign/Likely benign55801134RCV000040560|RCV000229769|RCV000249212|RCV000303193|RCV000310303|RCV000346389|RCV000342774|RCV000405582|RCV000993477; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C186359921794401631794401632:g.179440163C>GClinGen:CA283687CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.70506G>T (p.Gly23502=)7273TTNBenign/Likely benign181702963RCV000516726|RCV000554892|RCV001840625|RCV001840626|RCV001840627|RCV001840628|RCV002329227|RCV003150253|RCV003437238; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21794403531794403532:g.179440353C>AClinGen:CA1990774C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.70492G>A (p.Gly23498Ser)7273TTNConflicting interpretations of pathogenicity370771532RCV000040556|RCV000184775|RCV000544602|RCV001130763|RCV001130764|RCV001130762|RCV001133729|RCV001133730|RCV002326752; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C185876321794403671794403672:g.179440367C>TClinGen:CA140578C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.70380G>A (p.Leu23460=)7273TTNBenign/Likely benign185660043RCV000863057|RCV001698328|RCV001840564|RCV001840566|RCV001840565|RCV001840567|RCV002488968; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21794404791794404792:g.179440479C>TClinGen:CA1990796CN169374 not specified;
NM_001267550.2(TTN):c.70305G>A (p.Thr23435=)7273TTNBenign/Likely benign397517684RCV000040554|RCV000714085|RCV001471434|RCV001839684|RCV001839685|RCV001839686|RCV001839687|RCV002326751; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221794405541794405542:g.179440554C>TClinGen:CA140570CN169374 not specified;
NM_001267550.2(TTN):c.70250T>C (p.Ile23417Thr)7273TTNBenign/Likely benign201836227RCV000154922|RCV000468387|RCV000622225|RCV001704125|RCV001840139|RCV001840141|RCV001840142|RCV001840140; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:001136221794406091794406092:g.179440609A>GClinGen:CA181727CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=)7273TTNConflicting interpretations of pathogenicity369503828RCV000156831|RCV000262898|RCV000282721|RCV000318111|RCV000371793|RCV000342673|RCV000714084|RCV001087657|RCV001798524|RCV002326892; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673621794407281794407282:g.179440728T>CClinGen:CA185670C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.70112G>C (p.Arg23371Pro)7273TTNUncertain significance767208489RCV001130189|RCV000643467|RCV001135223|RCV001135222|RCV001135224|RCV001135225|RCV002493014; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MON21794407471794407472:g.179440747C>GClinGen:CA349664878C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.70111C>T (p.Arg23371Cys)7273TTNUncertain significance56141309RCV001130192|RCV001130194|RCV001130191|RCV001130193|RCV001130190|RCV002327405; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21794407481794407482:g.179440748G>A-
NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met)7273TTNConflicting interpretations of pathogenicity368867993RCV000152233|RCV000723936|RCV001081781|RCV001130195|RCV001130196|RCV001130897|RCV001130898|RCV001130896|RCV002326873; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C185876321794409951794409952:g.179440995T>CClinGen:CA178543C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.69837T>A (p.His23279Gln)7273TTNUncertain significance752879532RCV001130901|RCV001130903|RCV001130902|RCV001130899|RCV001130900; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21794410221794410222:g.179441022A>T-
NM_001267550.2(TTN):c.69490G>A (p.Val23164Met)7273TTNUncertain significance755341733RCV000267225|RCV000321248|RCV000326926|RCV000361966|RCV000381676; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21794414811794414812:g.179441481C>TClinGen:CA10612051CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.69458A>C (p.Lys23153Thr)7273TTNUncertain significance879119970RCV001131022|RCV001131023|RCV001133985|RCV001133984|RCV001133983|RCV003142061; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21794415131794415132:g.179441513T>G-
NM_001267550.2(TTN):c.69331A>G (p.Ile23111Val)7273TTNUncertain significance1398776954RCV002244081; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:1409222179441731179441731179441731-
NM_001267550.2(TTN):c.69231T>C (p.Leu23077=)7273TTNBenign/Likely benign12615797RCV000291969|RCV000292171|RCV000223200|RCV000405849|RCV000471554|RCV000327411|RCV000386628|RCV000621078|RCV000769964|RCV001705190; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orp21794418311794418312:g.179441831A>GClinGen:CA1990961CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser)7273TTNConflicting interpretations of pathogenicity55980498RCV000040535|RCV000242208|RCV000270511|RCV000275015|RCV000325543|RCV000360261|RCV000366186|RCV000488277|RCV000769965|RCV000852818|RCV001079297|RCV001293210|RCV002222367; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012121794419321794419322:g.179441932G>AClinGen:CA140506,UniProtKB:Q8WZ42#VAR_040219CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.69095A>T (p.His23032Leu)7273TTNUncertain significance886055251RCV000281926|RCV000295016|RCV000317124|RCV000330136|RCV000371712|RCV000389253; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MedGen:CN239310|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MedGen:CN239352|Human Phenotype O21794419671794419672:g.179441967T>AClinGen:CA10613249CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.68528-8T>C7273TTNConflicting interpretations of pathogenicity746223377RCV001135618|RCV001135619|RCV001135620|RCV001135617|RCV001135616|RCV001471095; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21794426331794426332:g.179442633A>G-
NM_001267550.2(TTN):c.68458G>C (p.Ala22820Pro)7273TTNConflicting interpretations of pathogenicity72646880RCV000040538|RCV000282806|RCV000307639|RCV000337009|RCV000342426|RCV000405692|RCV000463057|RCV000618829|RCV001093056|RCV001293209|RCV001798175|RCV001787841; NMedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,21794427841794427842:g.179442784C>GClinGen:CA140519CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys)7273TTNConflicting interpretations of pathogenicity200797552RCV000154926|RCV000172272|RCV000234385|RCV000261085|RCV000248442|RCV000262197|RCV000316255|RCV000375502|RCV000370118; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MedGen:CN230736|MONDO:MONDO:001271421794428051794428052:g.179442805C>TClinGen:CA181741CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.68391G>A (p.Pro22797=)7273TTNConflicting interpretations of pathogenicity368985748RCV000288345|RCV000287389|RCV000342338|RCV000377156|RCV000382759|RCV000616130|RCV001426889|RCV002323537|RCV001726130; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21794428511794428512:g.179442851C>TClinGen:CA1991113CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.68390C>T (p.Pro22797Leu)7273TTNUncertain significance1371471381RCV000852509|RCV001135736|RCV001134239|RCV001134240|RCV001134241|RCV001134242; NHuman Phenotype Ontology:HP:0001723,MONDO:MONDO:0005201,MeSH:D002313,MedGen:C0007196, Orphanet:217632|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:21794428521794428522:g.179442852G>A-
NM_001267550.2(TTN):c.68208T>A (p.Val22736=)7273TTNConflicting interpretations of pathogenicity727503575RCV000152241|RCV000727192|RCV001089296|RCV001128743|RCV001128744|RCV001128746|RCV001128745|RCV001128747|RCV002321630; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C185876321794435491794435492:g.179443549A>TClinGen:CA178563CN169374 not specified;
NM_001267550.2(TTN):c.68160C>T (p.Ala22720=)7273TTNBenign/Likely benign397517673RCV000040531|RCV000872762|RCV001839676|RCV001839677|RCV001839678|RCV001839679|RCV002321533|RCV003430648; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21794435971794435972:g.179443597G>AClinGen:CA140494CN169374 not specified;
NM_001267550.2(TTN):c.67960G>C (p.Asp22654His)7273TTNConflicting interpretations of pathogenicity144295295RCV000040528|RCV001134379|RCV001135840|RCV001135839|RCV001135841|RCV001135838; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,2179443797179443797NC_000002.11:g.179443797C>GClinGen:CA140484CN169374 not specified;
NM_001267550.2(TTN):c.67959T>C (p.Phe22653=)7273TTNConflicting interpretations of pathogenicity72646877RCV000250102|RCV000725846|RCV001135842|RCV001128849|RCV001135844|RCV001135845|RCV001078621|RCV001135843|RCV002321936; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C18635992179443798179443798NC_000002.11:g.179443798A>GClinGen:CA1991212CN169374 not specified;
NM_001267550.2(TTN):c.67856G>A (p.Gly22619Glu)7273TTNUncertain significance886055252RCV000269397|RCV000291568|RCV000326744|RCV000383659|RCV000386958; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,O21794439011794439012:g.179443901C>TClinGen:CA10611625CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.67643C>T (p.Pro22548Leu)7273TTNUncertain significance763002536RCV001134505|RCV001134507|RCV001134506|RCV001134508|RCV001134509; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21794441141794441142:g.179444114G>A-
NM_001267550.2(TTN):c.67348+11G>C7273TTNBenign/Likely benign587780982RCV000156317|RCV001839987|RCV001839984|RCV001839985|RCV001839986|RCV002055614; NMedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,21794446551794446552:g.179444655C>GClinGen:CA295827CN169374 not specified;
NM_001267550.2(TTN):c.67246G>C (p.Ala22416Pro)7273TTNBenign4145333RCV000040520|RCV000248869|RCV000282280|RCV000286185|RCV000339521|RCV000374422|RCV000407028|RCV000768949|RCV000993474|RCV001513450; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C186359921794447681794447682:g.179444768C>GClinGen:CA283646CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.67210G>A (p.Val22404Met)7273TTNConflicting interpretations of pathogenicity369257896RCV000532135|RCV001131637|RCV001131639|RCV001131635|RCV001131636|RCV001131638|RCV001170576|RCV001584289; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O2179444804179444804NC_000002.11:g.179444804C>TClinGen:CA1991353C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn)7273TTNConflicting interpretations of pathogenicity727503577RCV000152246|RCV000311951|RCV000308543|RCV000343431|RCV000365300|RCV000405984|RCV000724292|RCV001406798|RCV003149925; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837321794449101794449102:g.179444910T>GClinGen:CA178580CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro)7273TTNConflicting interpretations of pathogenicity72646873RCV000040518|RCV000230180|RCV000260453|RCV000275767|RCV000318112|RCV000333256|RCV000368971|RCV000621791|RCV000852821|RCV001083546|RCV001170577|RCV002221193; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C183734221794449151794449152:g.179444915A>GClinGen:CA140450CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile)7273TTNBenign/Likely benign2303838RCV000040517|RCV000247001|RCV000282945|RCV000287051|RCV000321643|RCV000344346|RCV000378652|RCV000993473|RCV001513451; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012121794449391794449392:g.179444939C>TClinGen:CA283641CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.66985G>A (p.Ala22329Thr)7273TTNUncertain significance886055253RCV000263298|RCV000302072|RCV000355747|RCV000359157|RCV000404466|RCV002480181; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MON21794451211794451212:g.179445121C>TClinGen:CA10613271CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.66977A>G (p.Lys22326Arg)7273TTNBenign/Likely benign202125813RCV000040515|RCV000464443|RCV001703905|RCV001839672|RCV001839674|RCV001839673|RCV001839675|RCV002371844; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C186359921794451291794451292:g.179445129T>CClinGen:CA140441C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=)7273TTNConflicting interpretations of pathogenicity371802557RCV000040511|RCV000268502|RCV000303421|RCV000299974|RCV000338417|RCV000360455|RCV000404862|RCV000465995|RCV002371843|RCV003149654|RCV003389730; NMedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MedGen:CN239352|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|Human Phenotype O21794462931794462932:g.179446293G>AClinGen:CA140423C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.66600C>T (p.Ser22200=)7273TTNConflicting interpretations of pathogenicity371324060RCV000840931|RCV001129188|RCV001129184|RCV001129185|RCV001129186|RCV001129187|RCV001502378|RCV002234382|RCV002372379; NMedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,21794463951794463952:g.179446395G>A-
NM_001267550.2(TTN):c.66580G>A (p.Glu22194Lys)7273TTNConflicting interpretations of pathogenicity768049902RCV001129190|RCV001129189|RCV001129191|RCV001131874|RCV001131875|RCV001293207; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MON21794464151794464152:g.179446415C>T-
NM_001267550.2(TTN):c.66576C>A (p.Leu22192=)7273TTNBenign/Likely benign187378247RCV000465235|RCV000598212|RCV001840578|RCV001840579|RCV001840580|RCV001840581|RCV002374827; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp2179446419179446419NC_000002.11:g.179446419G>TClinGen:CA1991478C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.66376T>C (p.Tyr22126His)7273TTNUncertain significance1447894010RCV001136282|RCV001136278|RCV001136279|RCV001136280|RCV001136281|RCV002261288; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,21794467201794467202:g.179446720A>G-
NM_001267550.2(TTN):c.66160+16G>A7273TTNBenign149714835RCV000125860|RCV001528946|RCV001839980|RCV001839982|RCV002055613|RCV001839983|RCV001839981; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,21794470071794470072:g.179447007C>TClinGen:CA291466CN169374 not specified;
NM_001267550.2(TTN):c.66160+15C>T7273TTNConflicting interpretations of pathogenicity377288086RCV000154929|RCV000259910|RCV000299785|RCV000333559|RCV000358279|RCV000354765|RCV002056066; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,21794470081794470082:g.179447008G>AClinGen:CA181751CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.65863+1G>A7273TTNPathogenic2154178615RCV002246796; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:6092179447666179447666179447666-
NM_001267550.2(TTN):c.65775C>T (p.Ser21925=)7273TTNConflicting interpretations of pathogenicity72646867RCV000040500|RCV000225958|RCV000274823|RCV000329910|RCV000326526|RCV000369611|RCV000384695|RCV000621981|RCV000768957|RCV001529138; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orp2179447755179447755ClinGen:CA283624CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.65747G>A (p.Arg21916Gln)7273TTNConflicting interpretations of pathogenicity148849567RCV000040499|RCV000241625|RCV000282835|RCV000341241|RCV000337921|RCV000381175|RCV000408381|RCV000466378|RCV001170583|RCV001703903; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C267367721794477831794477832:g.179447783C>TClinGen:CA140394CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.65746C>T (p.Arg21916Trp)7273TTNConflicting interpretations of pathogenicity200155485RCV000152252|RCV000172283|RCV000298339|RCV000312931|RCV000353195|RCV000408391|RCV000404677|RCV000470625; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012121794477841794477842:g.179447784G>AClinGen:CA178599C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.65682A>G (p.Thr21894=)7273TTNBenign4894029RCV000040497|RCV000250166|RCV000296733|RCV000310984|RCV000347187|RCV000350625|RCV000392870|RCV000993470|RCV001513452; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:001272179447848179447848ClinGen:CA283614CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.65633G>C (p.Gly21878Ala)7273TTNUncertain significance767001973RCV000264793|RCV000268362|RCV000308377|RCV000359505|RCV000363010|RCV000827619|RCV002487470; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph2179447897179447897NC_000002.11:g.179447897C>GClinGen:CA1991663CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.65575+19T>G7273TTNBenign72646865RCV000125854|RCV001839976|RCV001839977|RCV001839978|RCV002055612|RCV001839979; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858721794483151794483152:g.179448315A>CClinGen:CA291462CN169374 not specified;
NM_001267550.2(TTN):c.65575+10T>C7273TTNConflicting interpretations of pathogenicity72646864RCV000040494|RCV000204359|RCV001133051|RCV001133050|RCV001133052|RCV001136493|RCV001136494|RCV001701487|RCV003149653; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orp21794483241794483242:g.179448324A>GClinGen:CA344682C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.65574T>C (p.Asn21858=)7273TTNConflicting interpretations of pathogenicity374858668RCV000218631|RCV000462337|RCV001136495|RCV001136496|RCV001136497|RCV001136498|RCV001136499|RCV001705205|RCV002354613; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21794483351794483352:g.179448335A>GClinGen:CA1991683C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.65534C>T (p.Pro21845Leu)7273TTNConflicting interpretations of pathogenicity201662134RCV000154931|RCV000293736|RCV000319887|RCV000316262|RCV000374365|RCV000389492|RCV000620398|RCV000725861|RCV001081279|RCV001293206; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837321794483751794483752:g.179448375G>AClinGen:CA181757CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.65515G>A (p.Ala21839Thr)7273TTNConflicting interpretations of pathogenicity56378177RCV000262020|RCV000298416|RCV000341773|RCV000356447|RCV000406787|RCV000557186|RCV001721159|RCV002354501; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MON21794483941794483942:g.179448394C>TClinGen:CA310313,UniProtKB:Q8WZ42#VAR_040209C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.65499A>G (p.Arg21833=)7273TTNConflicting interpretations of pathogenicity369255906RCV000274078|RCV000277177|RCV000329281|RCV000332269|RCV000368757|RCV000952649|RCV001572142|RCV002356453; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21794484101794484102:g.179448410T>CClinGen:CA1991693CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile)7273TTNConflicting interpretations of pathogenicity56130023RCV000040492|RCV000172648|RCV000285866|RCV000289204|RCV000325515|RCV000341054|RCV000383806|RCV000617230|RCV001084400|RCV001170804; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C267367721794484501794484502:g.179448450G>AClinGen:CA140385CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.65416C>T (p.Arg21806Trp)7273TTNUncertain significance778703530RCV000282443|RCV000297889|RCV000337522|RCV000408183|RCV000408175|RCV002356454|RCV002487471; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21794484931794484932:g.179448493G>AClinGen:CA1991705CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.65410T>C (p.Trp21804Arg)7273TTNConflicting interpretations of pathogenicity745626132RCV000273244|RCV000310901|RCV000325941|RCV000365624|RCV000404582|RCV000643671|RCV003335308|RCV002365396; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,O21794484991794484992:g.179448499A>GClinGen:CA1991706C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.65182C>G (p.Leu21728Val)7273TTNConflicting interpretations of pathogenicity781121273RCV000184727|RCV001129618|RCV001129619|RCV001129620|RCV001129621|RCV001129617; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,21794490961794490962:g.179449096G>CClinGen:CA310310CN169374 not specified;
NM_001267550.2(TTN):c.65173G>A (p.Val21725Ile)7273TTNConflicting interpretations of pathogenicity368716894RCV000222014|RCV000318684|RCV000376978|RCV000267310|RCV000284705|RCV000324683|RCV000731696; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,21794491051794491052:g.179449105C>TClinGen:CA1991765CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu)7273TTNBenign/Likely benign13021201RCV000040488|RCV000244431|RCV000268004|RCV000307887|RCV000308979|RCV000360249|RCV000365873|RCV000465778|RCV000993468; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C186359921794491311794491312:g.179449131G>AClinGen:CA283599CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.65144G>T (p.Arg21715Leu)7273TTNConflicting interpretations of pathogenicity368450785RCV000184726|RCV000262099|RCV000260739|RCV000302097|RCV000319553|RCV000358672|RCV000462751|RCV003137729; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837321794491341794491342:g.179449134C>AClinGen:CA310307C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys)7273TTNBenign/Likely benign72646861RCV000040486|RCV000248485|RCV000288255|RCV000292517|RCV000346673|RCV000384863|RCV000389111|RCV000460251|RCV001170806|RCV001529618; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011421794491861794491862:g.179449186G>AClinGen:CA283594CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.64973-12C>G7273TTNUncertain significance918265990RCV001132456|RCV001132458|RCV001132457|RCV001132459|RCV001132460; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21794493171794493172:g.179449317G>C-
NM_001267550.2(TTN):c.64965C>G (p.Phe21655Leu)7273TTNUncertain significance886055255RCV000277954|RCV000298977|RCV000330712|RCV000357380|RCV000370160; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21794494031794494032:g.179449403G>CClinGen:CA10611629CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.64685C>A (p.Pro21562His)7273TTNUncertain significance1213776805RCV001132549|RCV001132551|RCV001132552|RCV001132553|RCV001132550; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21794496831794496832:g.179449683G>T-
NM_001267550.2(TTN):c.64493G>A (p.Cys21498Tyr)7273TTNUncertain significance752724337RCV001132556|RCV001132555|RCV001132554|RCV001133461|RCV001133462|RCV002505707; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MON21794499781794499782:g.179449978C>T-
NM_001267550.2(TTN):c.64453C>A (p.Arg21485=)7273TTNConflicting interpretations of pathogenicity768345594RCV001133466|RCV001133463|RCV001133464|RCV001133465|RCV001133467|RCV002067626|RCV003307793; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,21794500181794500182:g.179450018G>T-
NM_001267550.2(TTN):c.64238A>G (p.Asp21413Gly)7273TTNConflicting interpretations of pathogenicity375659466RCV000727834|RCV000769977|RCV001002278|RCV001133468|RCV001134972|RCV001134974|RCV001134971|RCV001134973; NMedGen:C3661900|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MO2179451390179451390NC_000002.11:g.179451390T>C-
NM_001267550.2(TTN):c.64195G>A (p.Asp21399Asn)7273TTNConflicting interpretations of pathogenicity749018114RCV000267919|RCV000320752|RCV000326464|RCV000360194|RCV000377730|RCV001711472|RCV003150070; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21794514331794514332:g.179451433C>TClinGen:CA310264CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys)7273TTNConflicting interpretations of pathogenicity72646859RCV000040478|RCV000172649|RCV000244887|RCV001080680|RCV001129930|RCV001129931|RCV001130634|RCV001130633|RCV001130635|RCV001170810|RCV003319176; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:001136221794514541794514542:g.179451454G>AClinGen:CA140336CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.64111A>G (p.Arg21371Gly)7273TTNUncertain significance748901968RCV000693779|RCV001133596|RCV001133597|RCV001133598|RCV001133595|RCV001133594|RCV003140100; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O2179451517179451517NC_000002.11:g.179451517T>C-C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=)7273TTNBenign/Likely benign72646857RCV000040475|RCV000246945|RCV000292437|RCV000310490|RCV000362883|RCV000391361|RCV000391375|RCV000475220|RCV001082277; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:001212179451906179451906ClinGen:CA283584
NM_001267550.2(TTN):c.63941C>T (p.Ser21314Leu)7273TTNUncertain significance776468606RCV000263673|RCV000264794|RCV000304488|RCV000322160|RCV000361782|RCV000537870|RCV002450898|RCV003137949; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21794519971794519972:g.179451997G>AClinGen:CA1991995C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.63879C>T (p.Asp21293=)7273TTNConflicting interpretations of pathogenicity200463088RCV000040470|RCV000245900|RCV000295521|RCV000294525|RCV000316505|RCV000334167|RCV000373573|RCV000475891|RCV001798171; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C186359921794520591794520592:g.179452059G>AClinGen:CA140305CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.63876C>T (p.Asn21292=)7273TTNBenign/Likely benign199598302RCV000040469|RCV000227933|RCV000306006|RCV000341096|RCV000344771|RCV000406686|RCV000401153|RCV000769982|RCV001529201|RCV002453330; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp2179452062179452062ClinGen:CA283579
NM_001267550.2(TTN):c.63793G>A (p.Asp21265Asn)7273TTNConflicting interpretations of pathogenicity794729474RCV000184710|RCV000460249|RCV001329653|RCV002453683|RCV002485246; NMedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MedGen:CN230736|6 conditions21794522431794522432:g.179452243C>TClinGen:CA310261C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val)7273TTNConflicting interpretations of pathogenicity72646855RCV000040467|RCV000082417|RCV000143969|RCV000262231|RCV000297845|RCV000312697|RCV000357132|RCV000393151|RCV000619500|RCV000852825|RCV001086280; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO21794524471794524472:g.179452447T>CClinGen:CA140295CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.63352C>T (p.Arg21118Trp)7273TTNConflicting interpretations of pathogenicity200726948RCV000040464|RCV000172292|RCV000248255|RCV000269467|RCV000332764|RCV000328753|RCV000367338|RCV000382596|RCV000852826|RCV001080206; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|M21794527821794527822:g.179452782G>AClinGen:CA140280CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.63287T>A (p.Ile21096Asn)7273TTNConflicting interpretations of pathogenicity558727238RCV000284284|RCV000285178|RCV000339354|RCV000379974|RCV000383293|RCV000830854; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,O2179452847179452847NC_000002.11:g.179452847A>TClinGen:CA1992113CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.63109C>T (p.Arg21037Cys)7273TTNConflicting interpretations of pathogenicity191549948RCV000643775|RCV000997432|RCV001131031|RCV001133991|RCV001133992|RCV001133994|RCV001133993|RCV002336480|RCV003150069; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orp21794533431794533432:g.179453343G>AClinGen:CA310227C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.62995T>G (p.Phe20999Val)7273TTNConflicting interpretations of pathogenicity568886353RCV000276032|RCV000307778|RCV000322078|RCV000362515|RCV000376658|RCV001293203|RCV001704912|RCV002460055; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,O21794534571794534572:g.179453457A>CClinGen:CA310218CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=)7273TTNConflicting interpretations of pathogenicity375006117RCV000040457|RCV000268107|RCV000278904|RCV000323386|RCV000338583|RCV000373423|RCV000621929|RCV000726632|RCV001079539|RCV003149652; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673621794534581794534582:g.179453458G>AClinGen:CA140264CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=)7273TTNConflicting interpretations of pathogenicity184863287RCV000152263|RCV000252401|RCV000725199|RCV001083795|RCV001130434|RCV001130430|RCV001130431|RCV001130432|RCV001130433|RCV001798479; NMedGen:CN169374|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:001212721794535091794535092:g.179453509A>GClinGen:CA178630CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.62834G>A (p.Gly20945Asp)7273TTNUncertain significance2049635543RCV001131155|RCV001131154|RCV001131156|RCV001131157|RCV001131158; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,O21794536181794536182:g.179453618C>T-
NM_001267550.2(TTN):c.62611C>G (p.Leu20871Val)7273TTNConflicting interpretations of pathogenicity767670018RCV000618178|RCV001130546|RCV001130543|RCV001130545|RCV001130542|RCV001130544|RCV001578203; NMedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858721794538411794538412:g.179453841G>CClinGen:CA1992201CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.62609A>C (p.Asn20870Thr)7273TTNConflicting interpretations of pathogenicity376338324RCV000267175|RCV000302699|RCV000309790|RCV000365491|RCV000390976|RCV001564075; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MON21794538431794538432:g.179453843T>GClinGen:CA1992202CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala)7273TTNConflicting interpretations of pathogenicity200689750RCV000040455|RCV000172650|RCV000246008|RCV000263771|RCV000292758|RCV000317683|RCV000318648|RCV000387122|RCV000458325|RCV003149651; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:001271421794538801794538802:g.179453880T>CClinGen:CA140255CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.62534C>T (p.Thr20845Met)7273TTNConflicting interpretations of pathogenicity727505316RCV000355324|RCV001134243|RCV001134245|RCV001134247|RCV001134244|RCV001134246; NMedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858721794539181794539182:g.179453918G>AClinGen:CA1992216CN169374 not specified;
NM_001267550.2(TTN):c.62511T>C (p.Ser20837=)7273TTNBenign/Likely benign369467841RCV000518725|RCV000863262|RCV001697012|RCV001840621|RCV001840623|RCV001840622|RCV001840624|RCV002455997; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C186359921794539411794539412:g.179453941A>GClinGen:CA1992219CN169374 not specified;
NM_001267550.2(TTN):c.62385C>A (p.Gly20795=)7273TTNConflicting interpretations of pathogenicity72646848RCV000040452|RCV000247961|RCV000545656|RCV001082861|RCV001135747|RCV001135748|RCV001135744|RCV001135745|RCV001135746|RCV001171290; NMedGen:CN169374|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:00114002179454067179454067ClinGen:CA283565
NM_001267550.2(TTN):c.62306C>A (p.Pro20769Gln)7273TTNUncertain significance772498581RCV000184690|RCV002453678|RCV003147386|RCV003147385|RCV003147387|RCV003147388|RCV003147389|RCV003147384; NMedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C186359921794541461794541462:g.179454146G>TClinGen:CA310200CN517202 not provided;
NM_001267550.2(TTN):c.62280T>C (p.Val20760=)7273TTNConflicting interpretations of pathogenicity372065796RCV000176605|RCV000251065|RCV000284206|RCV000289353|RCV000333758|RCV000344432|RCV000388445|RCV000724705|RCV001079619; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C186321794541721794541722:g.179454172A>GClinGen:CA242608CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.62275G>A (p.Glu20759Lys)7273TTNConflicting interpretations of pathogenicity562680371RCV000152264|RCV000300379|RCV000304060|RCV000339294|RCV000392749|RCV000400185|RCV000869565|RCV001704099|RCV002336306; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,21794541771794541772:g.179454177C>TClinGen:CA178633CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.62058T>C (p.Tyr20686=)7273TTNBenign1560221RCV000040449|RCV000245531|RCV000276236|RCV000274974|RCV000330048|RCV000355249|RCV000370787|RCV000993465|RCV001513454; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C18635992179454394179454394ClinGen:CA283555
NM_001267550.2(TTN):c.62011G>A (p.Glu20671Lys)7273TTNConflicting interpretations of pathogenicity770684884RCV000283430|RCV000291470|RCV000343002|RCV000377923|RCV000381020|RCV000869098|RCV001731612; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MON21794544411794544412:g.179454441C>TClinGen:CA1992282CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln)7273TTNConflicting interpretations of pathogenicity199895260RCV000040447|RCV000172651|RCV000279995|RCV000300024|RCV000335020|RCV000378989|RCV000401779|RCV000621320|RCV000768965|RCV000852829|RCV001084857|RCV002222152; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C186359921794545301794545302:g.179454530C>TClinGen:CA140235CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.61488T>G (p.Ile20496Met)7273TTNUncertain significance886042497RCV000333927|RCV001134515|RCV001134512|RCV001134514|RCV001134511|RCV001134513; NMedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,21794549641794549642:g.179454964A>CClinGen:CA10604316CN169374 not specified;
NM_001267550.2(TTN):c.61370A>C (p.Glu20457Ala)7273TTNConflicting interpretations of pathogenicity541930965RCV000281500|RCV000293984|RCV000338846|RCV000351260|RCV000386335|RCV001565788|RCV002450899; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21794550821794550822:g.179455082T>GClinGen:CA1992378CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.61289G>A (p.Cys20430Tyr)7273TTNConflicting interpretations of pathogenicity527704660RCV000152267|RCV000535645|RCV000714063|RCV001128975|RCV001128976|RCV001128977|RCV001128978|RCV001128979|RCV002453496; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C186359921794551631794551632:g.179455163C>TClinGen:CA178640C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.61276C>T (p.Leu20426Phe)7273TTNConflicting interpretations of pathogenicity377529060RCV000265408|RCV000306892|RCV000310552|RCV000358355|RCV000398857|RCV000557466|RCV001375616|RCV002460068|RCV003137950; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21794551761794551762:g.179455176G>AClinGen:CA1992388C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.61224G>A (p.Val20408=)7273TTNConflicting interpretations of pathogenicity566188777RCV000217874|RCV000459797|RCV001132658|RCV001131640|RCV001132660|RCV001132657|RCV001132659|RCV001171293|RCV001726051|RCV002453767; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21794552281794552282:g.179455228C>TClinGen:CA1992390C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.61048C>T (p.Leu20350Phe)7273TTNUncertain significance1162158537RCV001129090|RCV001129091|RCV001129092|RCV001136059|RCV001136058; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21794554041794554042:g.179455404G>A-
NM_001267550.2(TTN):c.61029T>C (p.Phe20343=)7273TTNConflicting interpretations of pathogenicity6706088RCV000152269|RCV000206824|RCV000252438|RCV000294997|RCV000289179|RCV000329660|RCV000333638|RCV000381251|RCV001532421; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C267367721794554231794554232:g.179455423A>GClinGen:CA346113CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.60991A>G (p.Arg20331Gly)7273TTNUncertain significance1226541281RCV001131762|RCV001131764|RCV001131763|RCV001131765|RCV001131766; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21794554611794554612:g.179455461T>C-
NM_001267550.2(TTN):c.60844G>C (p.Asp20282His)7273TTNUncertain significance2050065045RCV001132758|RCV001132759|RCV001132760|RCV001132761|RCV001132762; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21794556081794556082:g.179455608C>G-
NM_001267550.2(TTN):c.60821C>T (p.Pro20274Leu)7273TTNBenign/Likely benign72646845RCV000040435|RCV000243359|RCV000274783|RCV000301147|RCV000332171|RCV000354712|RCV000367570|RCV000392842|RCV000474195|RCV001171296|RCV001705689; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C000721794556311794556312:g.179455631G>AClinGen:CA140188CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.60811C>A (p.Pro20271Thr)7273TTNUncertain significance886055256RCV000268813|RCV000320381|RCV000326238|RCV000370458|RCV000383052; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21794556411794556412:g.179455641G>TClinGen:CA10613278CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln)7273TTNConflicting interpretations of pathogenicity200212521RCV000040433|RCV000172653|RCV000280109|RCV000286181|RCV000337757|RCV000343483|RCV000396846|RCV001086697|RCV001171297|RCV002222151|RCV002321530; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C186321794557311794557312:g.179455731C>GClinGen:CA140179C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.60524C>T (p.Pro20175Leu)7273TTNConflicting interpretations of pathogenicity771358314RCV000223279|RCV000462468|RCV000734811|RCV001131881|RCV001131883|RCV001131884|RCV001131880|RCV001131882|RCV003335235; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C267367721794559281794559282:g.179455928G>AClinGen:CA1992479C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.60343G>A (p.Asp20115Asn)7273TTNConflicting interpretations of pathogenicity369893671RCV000311908|RCV000315024|RCV000362803|RCV000368981|RCV000399596|RCV000993463; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21794561091794561092:g.179456109C>TClinGen:CA1992502CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.60198G>A (p.Pro20066=)7273TTNBenign/Likely benign767152563RCV000216290|RCV000714061|RCV001084345|RCV001840352|RCV001840353|RCV001840354|RCV001840355|RCV002453766|RCV002494564; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C18373422179456348179456348NC_000002.11:g.179456348C>TClinGen:CA1992544CN169374 not specified;
NM_001267550.2(TTN):c.60192T>C (p.Thr20064=)7273TTNConflicting interpretations of pathogenicity1215674180RCV001129301|RCV001129302|RCV001129303|RCV001129304|RCV001136290|RCV000643889; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MON2179456354179456354NC_000002.11:g.179456354A>GClinGen:CA430266829C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.60050AAG[2] (p.Glu20019del)7273TTNUncertain significance886055257RCV000264864|RCV000270544|RCV000322277|RCV000328015|RCV000366372|RCV000379756; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MedGen:CN239352|MONDO:MONDO21794564881794564902:g.179456488_179456490delClinGen:CA10611649CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.60033A>C (p.Gly20011=)7273TTNUncertain significance761455000RCV001132005|RCV001132007|RCV001132006|RCV001132008|RCV001132009; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21794565131794565132:g.179456513T>G-
NM_001267550.2(TTN):c.59912C>T (p.Ala19971Val)7273TTNUncertain significance886055258RCV000294623|RCV000307746|RCV000346197|RCV000352157|RCV000398499|RCV000402367|RCV000620688|RCV003137951|RCV002504121; NMedGen:CN239352|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569|MedGen:CN239310|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:2821794567191794567192:g.179456719G>AClinGen:CA10611650CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=)7273TTNConflicting interpretations of pathogenicity72646842RCV000040425|RCV000266817|RCV000305690|RCV000302100|RCV000353482|RCV000359114|RCV000714060|RCV001086691|RCV002321527; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21794567961794567962:g.179456796G>AClinGen:CA140157C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.59573C>T (p.Thr19858Ile)7273TTNConflicting interpretations of pathogenicity757911359RCV000299263|RCV000348294|RCV000351980|RCV000387777|RCV000401570; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21794571591794571592:g.179457159G>AClinGen:CA1992645CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.59534G>A (p.Arg19845His)7273TTNConflicting interpretations of pathogenicity201457934RCV000613768|RCV001133053|RCV001133054|RCV001133055|RCV001133056|RCV001132127|RCV003139925; NMedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837321794571981794571982:g.179457198C>TClinGen:CA1992652CN169374 not specified;
NM_001267550.2(TTN):c.59344+3G>A7273TTNConflicting interpretations of pathogenicity142095604RCV000154935|RCV000264865|RCV000248538|RCV000304853|RCV000310825|RCV000335560|RCV000359571|RCV000727110|RCV000769994|RCV000852833|RCV001080536; NMedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012121794574991794574992:g.179457499C>TClinGen:CA211129CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.59341C>T (p.Leu19781Phe)7273TTNConflicting interpretations of pathogenicity555577161RCV000270975|RCV000276322|RCV000289406|RCV000326003|RCV000331417|RCV000365549; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21794575051794575052:g.179457505G>AClinGen:CA1992686CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.59322A>G (p.Pro19774=)7273TTNConflicting interpretations of pathogenicity188063446RCV000040421|RCV000278971|RCV000318896|RCV000342659|RCV000373508|RCV000386004|RCV000469487|RCV001530016|RCV002321526; NMedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,21794575241794575242:g.179457524T>CClinGen:CA140144C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.59319G>A (p.Glu19773=)7273TTNConflicting interpretations of pathogenicity367622770RCV000040420|RCV000254300|RCV000284184|RCV000308595|RCV000339177|RCV000363322|RCV000399397|RCV000465101|RCV001723623|RCV001798168; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C186321794575271794575272:g.179457527C>TClinGen:CA283510CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu)7273TTNBenign/Likely benign72646840RCV000040418|RCV000241577|RCV000476235|RCV001572698|RCV001839644|RCV001839645|RCV001839646|RCV001839647; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:001212721794575311794575312:g.179457531G>AClinGen:CA140134CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.58984A>G (p.Ile19662Val)7273TTNUncertain significance886055259RCV000262021|RCV000285695|RCV000322044|RCV000371925|RCV000376695; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21794579511794579512:g.179457951T>CClinGen:CA10611651CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=)7273TTNBenign2303836RCV000040412|RCV000250448|RCV000287749|RCV000291439|RCV000346308|RCV000352059|RCV000401698|RCV000474017|RCV000769997|RCV000993459; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,21794580021794580022:g.179458002G>AClinGen:CA283505CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.58676T>A (p.Leu19559Gln)7273TTNBenign/Likely benign76604657RCV000863812|RCV001288572|RCV001840753|RCV001840755|RCV001840754|RCV001840756; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21794583511794583512:g.179458351A>T-
NM_001267550.2(TTN):c.58639G>A (p.Gly19547Arg)7273TTNUncertain significance886055260RCV000259397|RCV000299193|RCV000354108|RCV000367003|RCV000399553; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21794583881794583882:g.179458388C>TClinGen:CA10612055CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile)7273TTNConflicting interpretations of pathogenicity377682563RCV000172656|RCV000266149|RCV000272074|RCV000311922|RCV000321127|RCV000360816|RCV000385028|RCV000471860|RCV001798623|RCV002321686; NMedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011421794584511794584512:g.179458451C>TClinGen:CA238495C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His)7273TTNBenign/Likely benign2288569RCV000040406|RCV000244353|RCV000293230|RCV000327089|RCV000351162|RCV000387083|RCV000381798|RCV000993458|RCV001519592; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C186321794585911794585912:g.179458591C>TClinGen:CA283495CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.58433-15T>G7273TTNUncertain significance2050786898RCV001133369|RCV001133370|RCV001133368|RCV001132461|RCV001132462; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MON21794586091794586092:g.179458609A>C-
NM_001267550.2(TTN):c.58426G>A (p.Val19476Ile)7273TTNConflicting interpretations of pathogenicity397517636RCV000040405|RCV000184655|RCV000302892|RCV000338819|RCV000335169|RCV000396639|RCV000401844|RCV001087765|RCV002321520; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C183734221794586941794586942:g.179458694C>TClinGen:CA140094C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.58397G>C (p.Gly19466Ala)7273TTNConflicting interpretations of pathogenicity201922910RCV000184654|RCV000274852|RCV000330015|RCV000335906|RCV000375191|RCV000387758|RCV000765567|RCV002321742|RCV003317135; NMedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858721794587231794587232:g.179458723C>GClinGen:CA310125CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.58368dup (p.Tyr19457fs)7273TTNLikely pathogenic2050860445RCV001198133; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:60921794587511794587522:g.179458751_179458752insT-
NM_001267550.2(TTN):c.58226G>A (p.Arg19409His)7273TTNConflicting interpretations of pathogenicity201505306RCV000152274|RCV000172300|RCV000306594|RCV000314770|RCV000363653|RCV000366954|RCV000399359|RCV000621257|RCV001083650|RCV001170367; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012721794588941794588942:g.179458894C>TClinGen:CA178653CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.58207G>C (p.Ala19403Pro)7273TTNConflicting interpretations of pathogenicity545185154RCV000259463|RCV000274681|RCV000317014|RCV000356634|RCV000366217|RCV000378536; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|Med21794589131794589132:g.179458913C>GClinGen:CA1992894CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.58155C>A (p.Pro19385=)7273TTNBenign/Likely benign373587801RCV000219357|RCV000462222|RCV001840351|RCV001840348|RCV001840350|RCV001840349|RCV002321834; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,21794589651794589652:g.179458965G>TClinGen:CA1992907C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.58122C>G (p.Thr19374=)7273TTNConflicting interpretations of pathogenicity189818369RCV000040403|RCV000544873|RCV001129932|RCV001129934|RCV001129936|RCV001129933|RCV001129935|RCV001711155|RCV002321519; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orp21794590991794590992:g.179459099G>CClinGen:CA140089C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.57847+19del7273TTNBenign111496283RCV000483570|RCV001529875|RCV001798855|RCV001840614|RCV001840616|RCV001840615|RCV001840617; NMedGen:CN169374|MedGen:C3661900|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet21794602151794602152:g.179460215_179460215delClinGen:CA1992986CN169374 not specified;
NM_001267550.2(TTN):c.57683G>A (p.Arg19228His)7273TTNBenign/Likely benign114711705RCV000040398|RCV000458036|RCV000620713|RCV001083744|RCV001839636|RCV001839637|RCV001839638|RCV001839639; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:001212721794603981794603982:g.179460398C>TClinGen:CA140076CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.57656A>T (p.Tyr19219Phe)7273TTNConflicting interpretations of pathogenicity201541213RCV000228391|RCV000313228|RCV000356258|RCV000396308|RCV000352827|RCV000398470|RCV000714055|RCV000764322|RCV001170369|RCV002444755|RCV003235108; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MON21794604251794604252:g.179460425T>AClinGen:CA310113C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.57462G>A (p.Gln19154=)7273TTNBenign/Likely benign72646832RCV000040393|RCV000228769|RCV000251167|RCV001529880|RCV001839628|RCV001839629|RCV001839631|RCV001839630; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:001212721794623471794623472:g.179462347C>TClinGen:CA283480CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.57315T>C (p.His19105=)7273TTNBenign35833641RCV000040390|RCV000251182|RCV000287439|RCV000295798|RCV000326309|RCV000327457|RCV000387828|RCV000993457|RCV001514402; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C18632179462494179462494ClinGen:CA283475
NM_001267550.2(TTN):c.57112-4C>T7273TTNConflicting interpretations of pathogenicity117072049RCV001133739|RCV001133740|RCV001133741|RCV001133743|RCV001133742|RCV001170373|RCV001311244|RCV001509980|RCV002436254; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MON21794627891794627892:g.179462789G>AClinGen:CA1993094CN169374 not specified;
NM_001267550.2(TTN):c.56986A>C (p.Lys18996Gln)7273TTNUncertain significance-1RCV003148011|RCV003148014|RCV003148013|RCV003148010|RCV003148012|RCV003148009; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O2179463358179463358-
NM_001267550.2(TTN):c.56872G>A (p.Asp18958Asn)7273TTNUncertain significance576158850RCV000152290|RCV000463223|RCV001130909|RCV001130911|RCV001130908|RCV001130910|RCV001130912|RCV003137655; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21794635651794635652:g.179463565C>TClinGen:CA178686C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.56871C>T (p.Ser18957=)7273TTNConflicting interpretations of pathogenicity370619063RCV000272727|RCV000277798|RCV000306684|RCV000341744|RCV000364990|RCV000402212|RCV001086859|RCV001170375|RCV002229853; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673621794635661794635662:g.179463566G>AClinGen:CA1993170CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.56761C>T (p.Leu18921=)7273TTNConflicting interpretations of pathogenicity769824680RCV000274902|RCV000276033|RCV000318094|RCV000333382|RCV000363749|RCV003298388; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,21794636761794636762:g.179463676G>AClinGen:CA1993186CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.56433T>C (p.Asp18811=)7273TTNConflicting interpretations of pathogenicity771353550RCV001131038|RCV001133996|RCV001133995|RCV001131039|RCV001133997|RCV002064540|RCV003362992; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MON21794640871794640872:g.179464087A>G-
NM_001267550.2(TTN):c.56403A>G (p.Gln18801=)7273TTNConflicting interpretations of pathogenicity553313488RCV000152293|RCV000309495|RCV000308399|RCV000347987|RCV000370125|RCV000397382|RCV000727304|RCV001081455|RCV002433657; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21794641171794641172:g.179464117T>CClinGen:CA178692C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.56396C>T (p.Ala18799Val)7273TTNUncertain significance753746652RCV001135508|RCV001135509|RCV001135507|RCV001135510|RCV001135511; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21794641241794641242:g.179464124G>A-
NM_001267550.2(TTN):c.56362C>T (p.Pro18788Ser)7273TTNUncertain significance1363268909RCV000596221|RCV001130435|RCV001135512|RCV001135513|RCV001130436|RCV001135514; NMedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837321794641581794641582:g.179464158G>AClinGen:CA349532716CN169374 not specified;
NM_001267550.2(TTN):c.56286T>C (p.Tyr18762=)7273TTNUncertain significance886055262RCV000262704|RCV000277509|RCV000311517|RCV000320219|RCV000368513; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21794643421794643422:g.179464342A>GClinGen:CA10612064CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.55932T>C (p.Phe18644=)7273TTNBenign/Likely benign755839294RCV000184109|RCV000643577|RCV001840266|RCV001840267|RCV001840268|RCV001840269|RCV002433823|RCV002500555; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp2179465699179465699ClinGen:CA308956C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.55929A>G (p.Gln18643=)7273TTNBenign/Likely benign151335428RCV000118766|RCV000477604|RCV001080747|RCV001839908|RCV001839909|RCV001839911|RCV001839910|RCV002433612; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221794657021794657022:g.179465702T>CClinGen:CA155874C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.55732+5G>C7273TTNUncertain significance878854377RCV000598167|RCV000723287; NMedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:60921794659871794659872:g.179465987C>GClinGen:CA16616828,ClinVar:424834CN169374 not specified;
NM_001267550.2(TTN):c.55619T>C (p.Val18540Ala)7273TTNConflicting interpretations of pathogenicity779623773RCV001130553|RCV001131278|RCV001130552|RCV001131277|RCV001130554; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,O21794661051794661052:g.179466105A>G-
NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr)7273TTNConflicting interpretations of pathogenicity146608896RCV000040375|RCV000228188|RCV000620720|RCV001085000|RCV001131279|RCV001134252|RCV001134254|RCV001134253|RCV001134251; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:001140021794661771794661772:g.179466177A>GClinGen:CA283460CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.55512C>T (p.Asp18504=)7273TTNConflicting interpretations of pathogenicity377164046RCV000152299|RCV000549971|RCV001529448|RCV001840083|RCV001840084|RCV001840085|RCV001840086|RCV002433660; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221794662121794662122:g.179466212G>AClinGen:CA178708C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.55449C>T (p.Pro18483=)7273TTNBenign/Likely benign187366691RCV000154065|RCV000535211|RCV001704119|RCV001840123|RCV001840125|RCV001840126|RCV001840124|RCV002433670; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C186359921794662751794662752:g.179466275G>AClinGen:CA235099C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.55432+5G>C7273TTNConflicting interpretations of pathogenicity754717390RCV000184239|RCV000278169|RCV000295999|RCV000350933|RCV000331273|RCV000405475|RCV000385626|RCV000546209|RCV001249326|RCV003165414; NMedGen:C3661900|MedGen:CN239352|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C000721794663801794663802:g.179466380C>GClinGen:CA309276C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.55291G>A (p.Glu18431Lys)7273TTNConflicting interpretations of pathogenicity756341923RCV001128748|RCV001128749|RCV001128750|RCV001135756|RCV001135755|RCV003142054|RCV003413939; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MON21794666201794666202:g.179466620C>T-
NM_001267550.2(TTN):c.54947C>G (p.Thr18316Ser)7273TTNBenign/Likely benign758527900RCV000262677|RCV000476068|RCV000619573|RCV001537806|RCV001840460|RCV001840461|RCV001840462|RCV001840463; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:001212721794671821794671822:g.179467182G>CClinGen:CA1993552CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.54855G>A (p.Thr18285=)7273TTNConflicting interpretations of pathogenicity200410212RCV000253274|RCV000274079|RCV000273077|RCV000328156|RCV000333847|RCV000363491|RCV000730063|RCV000608203|RCV001087668; NMedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21794672741794672742:g.179467274C>TClinGen:CA1993563CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.54818C>T (p.Pro18273Leu)7273TTNConflicting interpretations of pathogenicity201035511RCV000040367|RCV000172661|RCV000260976|RCV000316224|RCV000341213|RCV000375984|RCV000388261|RCV001086441|RCV001798161|RCV002433515|RCV003398608; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C267367721794673111794673112:g.179467311G>AClinGen:CA139999C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.54812-5A>G7273TTNBenign/Likely benign375343798RCV000152306|RCV000714054|RCV001082262|RCV001840087|RCV001840089|RCV001840088|RCV001840090|RCV002433664; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C186359921794673221794673222:g.179467322T>CClinGen:CA211120C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.54811+15G>A7273TTNConflicting interpretations of pathogenicity201450276RCV000040366|RCV001134383|RCV001135846|RCV001135848|RCV001135847|RCV001135849|RCV002054794; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21794685881794685882:g.179468588C>TClinGen:CA139998CN169374 not specified;
NM_001267550.2(TTN):c.54811+8T>C7273TTNConflicting interpretations of pathogenicity747409403RCV000604371|RCV001135850|RCV001128851|RCV001135852|RCV001135853|RCV001135851; NMedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837321794685951794685952:g.179468595A>GClinGen:CA1993574CN169374 not specified;
NM_001267550.2(TTN):c.54796G>T (p.Ala18266Ser)7273TTNConflicting interpretations of pathogenicity199837769RCV000228857|RCV000287146|RCV000286006|RCV000307291|RCV000342179|RCV000347210|RCV000395829|RCV000725529|RCV000768991|RCV001262868|RCV002433826; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21794686181794686182:g.179468618C>AClinGen:CA310076C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.54685G>A (p.Val18229Met)7273TTNConflicting interpretations of pathogenicity116142642RCV000040363|RCV000461813|RCV001131522|RCV001131523|RCV001131524|RCV001131525|RCV001131526|RCV001699025|RCV002433514; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,21794687291794687292:g.179468729C>TClinGen:CA139984C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.54636T>C (p.Tyr18212=)7273TTNConflicting interpretations of pathogenicity397517620RCV000464314|RCV001134520|RCV001134516|RCV001134517|RCV001134518|RCV001134519|RCV002436475|RCV003235232; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp2179468778179468778NC_000002.11:g.179468778A>GClinGen:CA16610415C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.54631C>A (p.Pro18211Thr)7273TTNConflicting interpretations of pathogenicity727504192RCV001134521|RCV001134522|RCV001134523|RCV001135953|RCV001135954|RCV001557794|RCV002436717|RCV003150386; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21794687831794687832:g.179468783G>T-
NM_001267550.2(TTN):c.54469A>G (p.Lys18157Glu)7273TTNUncertain significance886055263RCV000259464|RCV000319374|RCV000320997|RCV000374070|RCV000380211; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21794689451794689452:g.179468945T>CClinGen:CA10612065CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.54449G>A (p.Ser18150Asn)7273TTNUncertain significance886055264RCV000290255|RCV000345313|RCV000349849|RCV000381304|RCV000395013; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,21794689651794689652:g.179468965C>TClinGen:CA10611654CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.54381+6C>G7273TTNConflicting interpretations of pathogenicity368265962RCV000040360|RCV000724174|RCV001128980|RCV001128982|RCV001128983|RCV001128981|RCV001131641; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,21794694291794694292:g.179469429G>CClinGen:CA139979CN169374 not specified;
NM_001267550.2(TTN):c.54348A>T (p.Glu18116Asp)7273TTNConflicting interpretations of pathogenicity773746281RCV001131646|RCV001131645|RCV001131642|RCV001131643|RCV001131644|RCV001759893|RCV002429772; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21794694681794694682:g.179469468T>A-
NM_001267550.2(TTN):c.54263C>T (p.Ala18088Val)7273TTNUncertain significance2054396232RCV001132672|RCV001132668|RCV001132669|RCV001132670|RCV001132671; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21794695531794695532:g.179469553G>A-
NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu)7273TTNConflicting interpretations of pathogenicity200968679RCV000152311|RCV000643272|RCV000660527|RCV000725049|RCV001129100|RCV001131770|RCV001131767|RCV001131768|RCV001131769|RCV002453497|RCV003149927; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,21794697441794697442:g.179469744C>GClinGen:CA178736C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.54037G>T (p.Ala18013Ser)7273TTNConflicting interpretations of pathogenicity531242797RCV000261639|RCV000297342|RCV000350885|RCV000356804|RCV000395016|RCV000868806|RCV001551202|RCV002450900; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,21794698671794698672:g.179469867C>AClinGen:CA1993706CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.53881+4C>A7273TTNUncertain significance187632918RCV000267565|RCV000268885|RCV000302857|RCV000357515|RCV000363406; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MON21794701371794701372:g.179470137G>TClinGen:CA10611665CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.53708G>A (p.Arg17903His)7273TTNUncertain significance755252821RCV000172315|RCV000462553|RCV001131887|RCV001131889|RCV001131888|RCV001131890|RCV001131891; NMedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,2179470314179470314NC_000002.11:g.179470314C>TClinGen:CA237936C1858763 604145 Dilated cardiomyopathy 1G;
NM_133378.4(TTN):c.45878-4A>G7273TTNConflicting interpretations of pathogenicity772324772RCV000294104|RCV000328665|RCV000330362|RCV000383846|RCV000389516|RCV000642881|RCV000727849; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21794704441794704442:g.179470444T>CClinGen:CA1993774C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.53507G>A (p.Arg17836His)7273TTNConflicting interpretations of pathogenicity373526624RCV000318089|RCV000282260|RCV000337689|RCV000302673|RCV000336131|RCV000394206|RCV000619450|RCV000863478|RCV001798770; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858721794718221794718222:g.179471822C>TClinGen:CA1993799CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.53322T>G (p.Val17774=)7273TTNUncertain significance886055265RCV000273245|RCV000308513|RCV000330828|RCV000362101|RCV000363151; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MON21794720071794720072:g.179472007A>CClinGen:CA10613098CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.53288-18G>T7273TTNBenign/Likely benign72646810RCV000184107|RCV001840262|RCV001840264|RCV001840263|RCV001840265|RCV002056963|RCV002500554; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673621794720591794720592:g.179472059C>AClinGen:CA308952CN169374 not specified;
NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu)7273TTNConflicting interpretations of pathogenicity397517612RCV000040345|RCV000276975|RCV000278213|RCV000332004|RCV000366890|RCV000372745|RCV000560612|RCV000770011|RCV001719771|RCV002426579; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,21794721551794721552:g.179472155A>GClinGen:CA139925C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr)7273TTNConflicting interpretations of pathogenicity201358641RCV000184616|RCV000555766|RCV000764330|RCV001132011|RCV001132953|RCV001132954|RCV001132013|RCV001132012|RCV002453674; NMedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|6 conditions|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OM21794722561794722562:g.179472256A>GClinGen:CA310046C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.53142T>C (p.Asp17714=)7273TTNConflicting interpretations of pathogenicity373316165RCV000725173|RCV001132955|RCV001132956|RCV001132958|RCV001088861|RCV001132957|RCV001132959|RCV002436099; NMedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858721794722731794722732:g.179472273A>GClinGen:CA1993850C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.53100T>C (p.Pro17700=)7273TTNConflicting interpretations of pathogenicity373140387RCV000265123|RCV000287580|RCV000322690|RCV000379601|RCV000383202|RCV002057621; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21794723151794723152:g.179472315A>GClinGen:CA10611666CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.53100T>G (p.Pro17700=)7273TTNBenign/Likely benign373140387RCV000422241|RCV000864114|RCV001840528|RCV001840529|RCV001840530|RCV001840531|RCV002429366; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21794723151794723152:g.179472315A>CClinGen:CA1993856CN169374 not specified;
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His)7273TTNConflicting interpretations of pathogenicity72646808RCV000040340|RCV000172663|RCV000291245|RCV000315170|RCV000335069|RCV000350259|RCV000404069|RCV000618788|RCV000770012|RCV000852844|RCV001086451|RCV002221192; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011421794723191794723192:g.179472319C>TClinGen:CA139912CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.53095C>T (p.Arg17699Cys)7273TTNConflicting interpretations of pathogenicity760963888RCV001129413|RCV001129412|RCV001132130|RCV001132129|RCV001132128; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,O21794723201794723202:g.179472320G>A-
NM_001267550.2(TTN):c.52948G>A (p.Ala17650Thr)7273TTNConflicting interpretations of pathogenicity535008556RCV000268363|RCV000264644|RCV000299807|RCV000303761|RCV000360879|RCV000867223|RCV001532425; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MON21794725661794725662:g.179472566C>TClinGen:CA310040CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.52908G>C (p.Glu17636Asp)7273TTNConflicting interpretations of pathogenicity748175453RCV000731713|RCV001133057|RCV001133059|RCV001088270|RCV001136501|RCV001133058|RCV001136500; NMedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C185872179472606179472606NC_000002.11:g.179472606C>G-
NM_001267550.2(TTN):c.52709C>T (p.Pro17570Leu)7273TTNUncertain significance2055350149RCV001132255|RCV001132257|RCV001132256|RCV001132258|RCV001132259; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21794728051794728052:g.179472805G>A-
NM_001267550.2(TTN):c.52702A>G (p.Ile17568Val)7273TTNConflicting interpretations of pathogenicity377571654RCV000308035|RCV000339816|RCV000361668|RCV000394317|RCV000394227|RCV000474495|RCV001532426|RCV001262302|RCV001798650|RCV002426896|RCV003114341; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21794729081794729082:g.179472908T>CClinGen:CA310028C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.52526G>A (p.Arg17509His)7273TTNUncertain significance886055267RCV000287510|RCV000310136|RCV000367112|RCV000390826|RCV000396711|RCV001660689; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21794730841794730842:g.179473084C>TClinGen:CA1993974CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.52428G>A (p.Lys17476=)7273TTNUncertain significance886055268RCV000263392|RCV000286106|RCV000320907|RCV000324766|RCV000377900; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MON21794731821794731822:g.179473182C>TClinGen:CA10611667CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.52142T>C (p.Ile17381Thr)7273TTNUncertain significance775637498RCV000289508|RCV000293272|RCV000346984|RCV000404265|RCV000404001|RCV001660690; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21794735961794735962:g.179473596A>GClinGen:CA1994039CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.52110G>A (p.Pro17370=)7273TTNConflicting interpretations of pathogenicity139789997RCV000040329|RCV000618342|RCV000714048|RCV001086625|RCV001133291|RCV001134736|RCV001134738|RCV001133290|RCV001134737|RCV001798157; NMedGen:CN169374|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:00121272179473628179473628ClinGen:CA283403
NM_001267550.2(TTN):c.52062C>A (p.Asp17354Glu)7273TTNUncertain significance886055269RCV000271889|RCV000311904|RCV000335538|RCV000366555|RCV000395280; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21794739751794739752:g.179473975G>TClinGen:CA10613285CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.52032T>C (p.His17344=)7273TTNConflicting interpretations of pathogenicity374254751RCV001129743|RCV001129744|RCV001129745|RCV001129746|RCV001129747|RCV001461264; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp2179474005179474005NC_000002.11:g.179474005A>GClinGen:CA1994074C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.51885G>T (p.Lys17295Asn)7273TTNUncertain significance72632861RCV000264527|RCV000268235|RCV000308323|RCV000323406|RCV000378047|RCV002261070; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21794741521794741522:g.179474152C>AClinGen:CA10613287CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.51859G>A (p.Val17287Ile)7273TTNUncertain significance1333508634RCV001132463|RCV001132465|RCV001132467|RCV001132464|RCV001132466; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MON21794741781794741782:g.179474178C>T-
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile)7273TTNConflicting interpretations of pathogenicity200650668RCV000040327|RCV000227290|RCV000250975|RCV000279940|RCV000294783|RCV000334677|RCV000389173|RCV000374388|RCV000725456|RCV001170610; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C267367721794742281794742282:g.179474228C>AClinGen:CA139879,UniProtKB:Q8WZ42#VAR_040166CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.51712C>T (p.Pro17238Ser)7273TTNConflicting interpretations of pathogenicity773035917RCV000597287|RCV000852520|RCV001129851|RCV001134844|RCV001134845|RCV001129852|RCV001129853|RCV001798914|RCV002456311; NMedGen:C3661900|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO21794744381794744382:g.179474438G>AClinGen:CA1994134CN169374 not specified;
NM_001267550.2(TTN):c.51678C>T (p.Asn17226=)7273TTNConflicting interpretations of pathogenicity372635204RCV000152336|RCV000277665|RCV000332647|RCV000372898|RCV000292995|RCV000387269|RCV000724703|RCV001082902|RCV002426725; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,21794744721794744722:g.179474472G>AClinGen:CA178803CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.51672A>C (p.Ala17224=)7273TTNUncertain significance755746120RCV001133476|RCV001133478|RCV001133475|RCV001133477|RCV001133479; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MON21794744781794744782:g.179474478T>G-
NM_001267550.2(TTN):c.51625G>A (p.Ala17209Thr)7273TTNUncertain significance1292930837RCV000577935|RCV000578013|RCV000578066|RCV002456273; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MedGen:CN2307362179474525179474525NC_000002.11:g.179474525C>TClinGen:CA349583773C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.51527G>C (p.Gly17176Ala)7273TTNConflicting interpretations of pathogenicity768961892RCV000286117|RCV000344314|RCV000340928|RCV000383600|RCV000390795|RCV000602149|RCV000643212|RCV001697826; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21794746231794746232:g.179474623C>GClinGen:CA1994174C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.51359G>A (p.Arg17120His)7273TTNUncertain significance778885931RCV001129940|RCV001129941|RCV001129937|RCV001129938|RCV001129939|RCV003142058; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21794748941794748942:g.179474894C>T-
NM_001267550.2(TTN):c.51273G>A (p.Arg17091=)7273TTNConflicting interpretations of pathogenicity532589236RCV000176342|RCV001129942|RCV001130637|RCV001129943|RCV001130636|RCV001130638|RCV001443544; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858721794749801794749802:g.179474980C>TClinGen:CA201914CN169374 not specified;
NM_001267550.2(TTN):c.50994T>C (p.Ser16998=)7273TTNBenign/Likely benign752023426RCV000865935|RCV001712810|RCV001840762|RCV001840764|RCV001840763|RCV001840765; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21794758621794758622:g.179475862A>G-
NM_001267550.2(TTN):c.50551+20C>T7273TTNBenign67636125RCV000125815|RCV001529187|RCV001839964|RCV001839966|RCV001839967|RCV001839965|RCV002055609; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012121794764651794764652:g.179476465G>AClinGen:CA291459CN169374 not specified;
NM_001267550.2(TTN):c.50538T>C (p.Ile16846=)7273TTNUncertain significance763711863RCV001130778|RCV001130779|RCV001130780|RCV001130781|RCV001130782; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21794764981794764982:g.179476498A>G-
NM_001267550.2(TTN):c.50363T>C (p.Ile16788Thr)7273TTNConflicting interpretations of pathogenicity397517599RCV000040312|RCV000284717|RCV000288386|RCV000324575|RCV000339767|RCV000404730|RCV000539364|RCV000770017|RCV001703901|RCV002426575; NMedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21794766731794766732:g.179476673A>GClinGen:CA139836C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.50355-3T>C7273TTNUncertain significance1172932037RCV001135240|RCV001135239|RCV001135241|RCV001135242|RCV001135243; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21794766841794766842:g.179476684A>G-
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr)7273TTNBenign/Likely benign36043230RCV000040307|RCV000204166|RCV000244572|RCV000266856|RCV000270310|RCV000310132|RCV000325432|RCV000361487|RCV000993448; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C185876321794772671794772672:g.179477267T>GClinGen:CA283355CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.49944G>A (p.Lys16648=)7273TTNBenign/Likely benign190021597RCV000118761|RCV000643443|RCV001086196|RCV001839900|RCV001839901|RCV001839902|RCV001839903|RCV002444572; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C18373422179477504179477504NC_000002.11:g.179477504C>TClinGen:CA155866C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.49758T>C (p.Tyr16586=)7273TTNConflicting interpretations of pathogenicity72677247RCV000213520|RCV000725262|RCV001079373|RCV001130913|RCV001130914|RCV001130915|RCV001130916|RCV001133881|RCV002444859; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C18587632179477690179477690NC_000002.11:g.179477690A>GClinGen:CA1994518CN169374 not specified;
NM_001267550.2(TTN):c.49731T>C (p.His16577=)7273TTNBenign2115558RCV000040305|RCV000249643|RCV000294068|RCV000309404|RCV000349073|RCV000388378|RCV000404325|RCV000460402|RCV001795027; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012721794777171794777172:g.179477717A>GClinGen:CA283350CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.49648+16T>C7273TTNBenign57677875RCV000125811|RCV001529215|RCV001839960|RCV001839961|RCV001839962|RCV002055608|RCV001839963|RCV002498611; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011421794778721794778722:g.179477872A>GClinGen:CA291458CN169374 not specified;
NM_001267550.2(TTN):c.49648+13T>A7273TTNConflicting interpretations of pathogenicity368996176RCV000218302|RCV001133882|RCV001133883|RCV001135386|RCV001135388|RCV001135387|RCV002054956; NMedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C185872179477875179477875NC_000002.11:g.179477875A>TClinGen:CA1994555CN169374 not specified;
NM_001267550.2(TTN):c.49436G>A (p.Gly16479Asp)7273TTNUncertain significance2056796893RCV001130341|RCV001130339|RCV001130340|RCV001131040|RCV001131041; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21794785741794785742:g.179478574C>T-
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys)7273TTNConflicting interpretations of pathogenicity202094100RCV000040300|RCV000184581|RCV000248683|RCV000275689|RCV000317820|RCV000330719|RCV000357355|RCV000372520|RCV000560033|RCV000764335|RCV001170837|RCV003407411; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:001271421794785971794785972:g.179478597C>AClinGen:CA139810CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.49367G>A (p.Arg16456His)7273TTNConflicting interpretations of pathogenicity768914789RCV000172318|RCV000290799|RCV000289489|RCV000342229|RCV000381631|RCV000387541|RCV002415735|RCV002469044; NMedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,21794786431794786432:g.179478643C>TClinGen:CA237945CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.49263C>T (p.Tyr16421=)7273TTNConflicting interpretations of pathogenicity376188859RCV000300967|RCV000302290|RCV000340868|RCV000353745|RCV000405891|RCV000734070|RCV001079002|RCV001723920|RCV002429296; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21794788611794788612:g.179478861G>AClinGen:CA1994642C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.49211C>T (p.Thr16404Ile)7273TTNUncertain significance2056867382RCV001131162|RCV001131163|RCV001131164|RCV001131165|RCV001131166; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21794789131794789132:g.179478913G>A-
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln)7273TTNConflicting interpretations of pathogenicity200944827RCV000222990|RCV000643008|RCV000724717|RCV001134129|RCV001134128|RCV001134130|RCV001134131|RCV001134132|RCV002426845; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221794789521794789522:g.179478952C>TClinGen:CA302836,UniProtKB:Q8WZ42#VAR_074294C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.49126C>T (p.Arg16376Cys)7273TTNConflicting interpretations of pathogenicity772152172RCV000218703|RCV001135634|RCV001134133|RCV001135635|RCV001135633|RCV001135636; NMedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,21794789981794789982:g.179478998G>AClinGen:CA1994670CN169374 not specified;
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr)7273TTNConflicting interpretations of pathogenicity72677243RCV000040295|RCV000172665|RCV000247886|RCV000655929|RCV000768997|RCV001083138|RCV001130555|RCV001131281|RCV001131282|RCV001131280; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet21794792881794792882:g.179479288A>GClinGen:CA139797CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.48760+8T>C7273TTNUncertain significance2057012531RCV001134260|RCV001134262|RCV001134261|RCV001134263|RCV001134259; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MON21794795661794795662:g.179479566A>G-
NM_001267550.2(TTN):c.48671G>C (p.Trp16224Ser)7273TTNUncertain significance886055270RCV000310376|RCV000314818|RCV000362711|RCV000368663|RCV000397037|RCV002429297; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21794796631794796632:g.179479663C>GClinGen:CA10613288CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.48595T>C (p.Ser16199Pro)7273TTNConflicting interpretations of pathogenicity752629624RCV000172322|RCV001128754|RCV001128753|RCV001128751|RCV001128752|RCV001135757|RCV001798614; NMedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21794800771794800772:g.179480077A>GClinGen:CA237954CN517202 not provided;
NM_001267550.2(TTN):c.48462G>A (p.Thr16154=)7273TTNConflicting interpretations of pathogenicity202141158RCV000617431|RCV000724694|RCV001083383|RCV001128757|RCV001128758|RCV001128756|RCV001131393|RCV001128755; NMedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C185876321794802101794802102:g.179480210C>TClinGen:CA242012CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.48461C>T (p.Thr16154Met)7273TTNConflicting interpretations of pathogenicity771120250RCV000231241|RCV001131398|RCV001131394|RCV001131396|RCV001131395|RCV001131397; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MON2179480211179480211NC_000002.11:g.179480211G>AClinGen:CA1994807C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.48460+8C>T7273TTNBenign/Likely benign2288565RCV000040292|RCV000264758|RCV000282550|RCV000323443|RCV000322298|RCV000361671|RCV000462445|RCV000769001; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,21794803601794803602:g.179480360G>AClinGen:CA283327C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.48353A>G (p.Asp16118Gly)7273TTNConflicting interpretations of pathogenicity376273101RCV000155973|RCV000172667|RCV000242630|RCV001085935|RCV001128852|RCV001128853|RCV001135859|RCV001135860|RCV001135861; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:001140021794804751794804752:g.179480475T>CClinGen:CA183909CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.48106A>C (p.Lys16036Gln)7273TTNUncertain significance886055271RCV000294386|RCV000294552|RCV000351768|RCV000373601|RCV000392516|RCV000456735; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21794815101794815102:g.179481510T>GClinGen:CA10613108C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.48099T>C (p.Tyr16033=)7273TTNConflicting interpretations of pathogenicity760816246RCV001131528|RCV001131530|RCV001131529|RCV001131527|RCV001134524; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21794815171794815172:g.179481517A>G-
NM_001267550.2(TTN):c.48073A>T (p.Ser16025Cys)7273TTNUncertain significance1185643168RCV001332832|RCV003135990; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MedGen:CN5172022179481543179481543179481543-
NM_001267550.2(TTN):c.48054C>T (p.Ala16018=)7273TTNConflicting interpretations of pathogenicity779940754RCV000306033|RCV000307343|RCV000347059|RCV000364155|RCV000405787|RCV000441561|RCV002057622; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21794815621794815622:g.179481562G>AClinGen:CA1994923CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.48024G>T (p.Arg16008=)7273TTNConflicting interpretations of pathogenicity780824428RCV000259842|RCV000265830|RCV000299870|RCV000357009|RCV000358516|RCV002057623; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21794815921794815922:g.179481592C>AClinGen:CA1994926CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.47978C>A (p.Thr15993Asn)7273TTNConflicting interpretations of pathogenicity727503622RCV000152345|RCV000277761|RCV000291298|RCV000330386|RCV000343952|RCV000388479|RCV000553961|RCV002415642|RCV003137657; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21794816381794816382:g.179481638G>TClinGen:CA178829C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.47875+12T>G7273TTNConflicting interpretations of pathogenicity758849410RCV001131654|RCV001132674|RCV001132676|RCV001132673|RCV001132675; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MON21794818351794818352:g.179481835A>C-
NM_001267550.2(TTN):c.47740G>C (p.Val15914Leu)7273TTNConflicting interpretations of pathogenicity764059405RCV000535141|RCV001136069|RCV001136070|RCV001136071|RCV001136072|RCV001136073|RCV003139798; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp2179482072179482072NC_000002.11:g.179482072C>GClinGen:CA1994994C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.47570T>C (p.Ile15857Thr)7273TTNUncertain significance886055272RCV000281268|RCV000286990|RCV000339770|RCV000378024|RCV000393058|RCV001764304|RCV002487472; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21794825081794825082:g.179482508A>GClinGen:CA10611671CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr)7273TTNConflicting interpretations of pathogenicity146181477RCV000040283|RCV000082410|RCV000299345|RCV000314422|RCV000349511|RCV000369133|RCV000406274|RCV000619989|RCV000852853|RCV001083906|RCV001798153; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012721794825331794825332:g.179482533G>TClinGen:CA139762CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.47400G>A (p.Lys15800=)7273TTNBenign/Likely benign114145817RCV000040281|RCV000203864|RCV000243465|RCV000292912|RCV000317783|RCV000318488|RCV000372120|RCV000387078|RCV000769008|RCV001082097; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:00121272179482678179482678ClinGen:CA283303CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.47379C>T (p.Tyr15793=)7273TTNConflicting interpretations of pathogenicity374281025RCV000214390|RCV000533563|RCV001129198|RCV001129200|RCV001129201|RCV001129197|RCV001129199|RCV001170841|RCV001711997|RCV002415898; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21794826991794826992:g.179482699G>AClinGen:CA1995054C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln)7273TTNConflicting interpretations of pathogenicity72677233RCV000040280|RCV000225870|RCV000254435|RCV000308756|RCV000343876|RCV000352447|RCV000392384|RCV000404240|RCV000852855|RCV001083111|RCV001798152; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|M21794827631794827632:g.179482763C>TClinGen:CA139757CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.47278G>A (p.Gly15760Ser)7273TTNUncertain significance372404266RCV000244394|RCV000330542|RCV000724923|RCV001131896|RCV001131892|RCV001131893|RCV001131894|RCV001131895; NMedGen:CN230736|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:00127142179482800179482800NC_000002.11:g.179482800C>TClinGen:CA1995074CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=)7273TTNBenign/Likely benign76081119RCV000040279|RCV000260454|RCV000305182|RCV000316101|RCV000358832|RCV000359822|RCV000619432|RCV000714041|RCV001082040|RCV001798151; NMedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C267362179482807179482807ClinGen:CA283298
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile)7273TTNConflicting interpretations of pathogenicity72677232RCV000040278|RCV000172668|RCV000251802|RCV000262089|RCV000296178|RCV000331321|RCV000332423|RCV000385584|RCV000767391|RCV000769009|RCV001082393; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|M21794829371794829372:g.179482937C>TClinGen:CA139752CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys)7273TTNConflicting interpretations of pathogenicity72677231RCV000040277|RCV000206445|RCV000253777|RCV000283374|RCV000291644|RCV000343176|RCV000346585|RCV000382285|RCV000769010|RCV001081905; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|M21794829941794829942:g.179482994G>AClinGen:CA139747CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.47133A>G (p.Ala15711=)7273TTNConflicting interpretations of pathogenicity573218266RCV000437070|RCV000544867|RCV000617243|RCV001129309|RCV001129310|RCV001129311|RCV001129312|RCV001136291|RCV001288118; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C267367721794830521794830522:g.179483052T>CClinGen:CA1995117CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.46884G>A (p.Lys15628=)7273TTNConflicting interpretations of pathogenicity760251812RCV000269951|RCV000273542|RCV000314523|RCV000325000|RCV000385186|RCV000842277|RCV001437186|RCV002418195; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O2179483393179483393NC_000002.11:g.179483393C>TClinGen:CA1995156CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.46880C>T (p.Ala15627Val)7273TTNConflicting interpretations of pathogenicity115813214RCV000040276|RCV000272075|RCV000287419|RCV000322491|RCV000342339|RCV000377170|RCV000470629|RCV000617450|RCV001719770; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21794833971794833972:g.179483397G>AClinGen:CA139743CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.46847C>T (p.Thr15616Met)7273TTNConflicting interpretations of pathogenicity368057764RCV000156822|RCV000279104|RCV000312780|RCV000338432|RCV000406384|RCV000407419|RCV000714039|RCV001087961|RCV001798523; NMedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,21794834301794834302:g.179483430G>AClinGen:CA185646C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.46800A>G (p.Glu15600=)7273TTNConflicting interpretations of pathogenicity190058852RCV000264075|RCV000308815|RCV000314013|RCV000358919|RCV000364052|RCV000423513|RCV000643205|RCV001311255|RCV002418196; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MON21794834771794834772:g.179483477T>CClinGen:CA1995166C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.46773T>C (p.Tyr15591=)7273TTNUncertain significance397517586RCV000260380|RCV000280843|RCV000315704|RCV000378459|RCV000374957; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21794835041794835042:g.179483504A>GClinGen:CA10613113CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.46483G>A (p.Ala15495Thr)7273TTNConflicting interpretations of pathogenicity537428006RCV000287871|RCV000295969|RCV000351115|RCV000385804|RCV000407698|RCV000869607|RCV003137953; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,O21794845611794845612:g.179484561C>TClinGen:CA1995229CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.46386C>T (p.Cys15462=)7273TTNConflicting interpretations of pathogenicity147703145RCV000040269|RCV000557245|RCV001133065|RCV001133061|RCV001133062|RCV001133063|RCV001133064|RCV002408533|RCV003326338; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,2179484758179484758ClinGen:CA283286
NM_001267550.2(TTN):c.46344del (p.Ile15448_Ile15449insTer)7273TTNLikely pathogenic-1RCV003333297|RCV003333293|RCV003333294|RCV003333295|RCV003333296|RCV003333298; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0013412,MedGen:C1861065,OMIM:613765|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MOND2179484800179484800-
NM_001267550.2(TTN):c.46226T>C (p.Val15409Ala)7273TTNUncertain significance-1RCV003148434|RCV003148435|RCV003148436|RCV003148438|RCV003148437|RCV003148439; NMONDO:MONDO:0013412,MedGen:C1861065,OMIM:613765|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MOND2179485022179485022-
NM_001267550.2(TTN):c.46142T>C (p.Val15381Ala)7273TTNBenign/Likely benign369269320RCV000473931|RCV001374698|RCV001840589|RCV001840586|RCV001840587|RCV001840588; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,2179485106179485106NC_000002.11:g.179485106A>GClinGen:CA1995300C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn)7273TTNConflicting interpretations of pathogenicity397517583RCV000040265|RCV000303308|RCV000304633|RCV000347554|RCV000358217|RCV000407706|RCV000406048|RCV000727270|RCV000770026|RCV001079806; NMedGen:CN169374|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MedGen:CN239310|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:2821794851831794851832:g.179485183C>GClinGen:CA139717CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.45942G>T (p.Met15314Ile)7273TTNUncertain significance2058108323RCV001129514|RCV001129512|RCV001129513|RCV001132260|RCV001132261; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21794853061794853062:g.179485306C>A-
NM_001267550.2(TTN):c.45893A>G (p.Glu15298Gly)7273TTNUncertain significance886055274RCV000286013|RCV000299175|RCV000356188|RCV000391728|RCV000391753|RCV002504122; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21794854441794854442:g.179485444T>CClinGen:CA10613312CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.45786C>T (p.Tyr15262=)7273TTNConflicting interpretations of pathogenicity532009022RCV001133170|RCV001133171|RCV001133172|RCV001133173|RCV001132262|RCV002411641; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21794855511794855512:g.179485551G>A-
NM_001267550.2(TTN):c.45746A>G (p.Asp15249Gly)7273TTNUncertain significance2058157979RCV001133174|RCV001133176|RCV001133175|RCV001133177|RCV001134642; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,21794855911794855912:g.179485591T>C-
NM_001267550.2(TTN):c.45738T>C (p.Ala15246=)7273TTNBenign/Likely benign2303829RCV000040263|RCV000254247|RCV000276370|RCV000311531|RCV000333831|RCV000368514|RCV000403696|RCV000457344|RCV000993443; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C18582179485599179485599ClinGen:CA283281CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.45653G>A (p.Arg15218Gln)7273TTNUncertain significance548035065RCV001129631|RCV001129633|RCV001129632|RCV001129634|RCV001129630|RCV003142056; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21794856841794856842:g.179485684C>T-
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly)7273TTNConflicting interpretations of pathogenicity201057307RCV000040261|RCV000118756|RCV000282960|RCV000378515|RCV000385022|RCV000621910|RCV000767850|RCV000986939|RCV001085279|RCV003149647; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MedGen:CN230736|M21794858461794858462:g.179485846G>CClinGen:CA248648,OMIM:188840.0018,ClinVar:424837CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.45350-13T>C7273TTNBenign/Likely benign113084617RCV000154639|RCV001133297|RCV001134741|RCV001134742|RCV001134740|RCV001134739|RCV001795239|RCV002055607; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,21794861081794861082:g.179486108A>GClinGen:CA295666CN169374 not specified;
NM_001267550.2(TTN):c.45212T>C (p.Ile15071Thr)7273TTNConflicting interpretations of pathogenicity184078045RCV000260782|RCV000266937|RCV000310252|RCV000324442|RCV000359282|RCV000471038|RCV000725050|RCV002408819; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21794863391794863392:g.179486339A>GClinGen:CA309841,UniProtKB:Q8WZ42#VAR_040151C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.45206A>T (p.Glu15069Val)7273TTNBenign/Likely benign114331773RCV000040253|RCV000203743|RCV000248617|RCV000295935|RCV000318299|RCV000349640|RCV000375218|RCV000387891|RCV000770034|RCV001811295; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C185876321794863451794863452:g.179486345T>AClinGen:CA283264CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.45120T>G (p.Ile15040Met)7273TTNBenign/Likely benign74580375RCV000082404|RCV000537993|RCV001133380|RCV001133381|RCV001133382|RCV001134846|RCV001134847|RCV001811387|RCV002399471; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orp21794864311794864312:g.179486431A>CClinGen:CA149425,UniProtKB:Q8WZ42#VAR_040148C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.45083-10A>G7273TTNBenign/Likely benign72677222RCV000040250|RCV000206822|RCV000303710|RCV000308610|RCV000343801|RCV000347154|RCV000407700|RCV000770036|RCV001529823; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21794864781794864782:g.179486478T>CClinGen:CA283258C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.45054G>A (p.Ala15018=)7273TTNConflicting interpretations of pathogenicity781392140RCV000262626|RCV000268335|RCV000320230|RCV000355134|RCV000360752|RCV000457525|RCV001798788|RCV002402057|RCV003137954; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MON21794865951794865952:g.179486595C>TClinGen:CA1995513C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.44999T>C (p.Ile15000Thr)7273TTNUncertain significance886055275RCV000275109|RCV000288471|RCV000327043|RCV000332590|RCV000389457; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orph21794866501794866502:g.179486650A>GClinGen:CA10613114CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.44913+10dup7273TTNUncertain significance745700983RCV000286392|RCV000291845|RCV000334530|RCV000339854|RCV000383933|RCV000398583|RCV002487473; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MedGen:CN239352|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MedGen:CN239310|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|Human Phenotype O21794873861794873872:g.179487386_179487387insAClinGen:CA1995546CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.44815+14T>C7273TTNUncertain significance2058737403RCV001132567|RCV001132568|RCV001132569|RCV001132570|RCV001132566; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21794891781794891782:g.179489178A>G-
NM_001267550.2(TTN):c.44599G>A (p.Gly14867Arg)7273TTNConflicting interpretations of pathogenicity144848584RCV000271481|RCV000277289|RCV000328849|RCV000363601|RCV000376613|RCV000732908|RCV001479457|RCV003317194; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MON21794894081794894082:g.179489408C>TClinGen:CA1995602C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.44593G>A (p.Glu14865Lys)7273TTNConflicting interpretations of pathogenicity543102139RCV000216762|RCV000284481|RCV000341707|RCV000401971|RCV000286745|RCV000380150|RCV000534179|RCV001722171|RCV001798708; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orp21794894141794894142:g.179489414C>TClinGen:CA1995603C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.44519T>A (p.Phe14840Tyr)7273TTNUncertain significance886055276RCV000260165|RCV000273583|RCV000319258|RCV000355350|RCV000367926|RCV002488709; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MON21794900291794900292:g.179490029A>TClinGen:CA10611673CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.44419G>A (p.Asp14807Asn)7273TTNUncertain significance753053245RCV000311870|RCV000345875|RCV000351629|RCV000381280|RCV000407836|RCV000546755|RCV002487474; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21794940331794940332:g.179494033C>TClinGen:CA1995650C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.44413C>G (p.Pro14805Ala)7273TTNUncertain significance753926213RCV001133614|RCV001133615|RCV001135105|RCV001135107|RCV001135106|RCV000643458; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21794940391794940392:g.179494039G>CClinGen:CA1995653C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.44373T>C (p.Asp14791=)7273TTNUncertain significance772552324RCV001135112|RCV001135108|RCV001135109|RCV001135110|RCV001135111; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21794940791794940792:g.179494079A>G-
NM_001267550.2(TTN):c.44273G>A (p.Arg14758Gln)7273TTNUncertain significance770389312RCV000555068|RCV000592311|RCV001130788|RCV001130789|RCV001130790|RCV001130787|RCV001130786|RCV002476161; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orp2179494976179494976NC_000002.11:g.179494976C>TClinGen:CA1995705C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.44229G>A (p.Gly14743=)7273TTNConflicting interpretations of pathogenicity376445406RCV000868047|RCV001133751|RCV001130791|RCV001133748|RCV001133749|RCV001133750|RCV001433548|RCV002409058; NMedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673621794950201794950202:g.179495020C>T-
NM_001267550.2(TTN):c.44096C>G (p.Ser14699Cys)7273TTNUncertain significance1293270234RCV001135247|RCV001135249|RCV001135246|RCV001135248|RCV001135245; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orph21794955891794955892:g.179495589G>C-
NM_001267550.2(TTN):c.43704A>G (p.Val14568=)7273TTNBenign/Likely benign368783829RCV000427816|RCV001840523|RCV001840520|RCV001840521|RCV001840522|RCV002061564|RCV003150203; NMedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,21794969171794969172:g.179496917T>CClinGen:CA1995815C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.43691C>G (p.Ser14564Cys)7273TTNConflicting interpretations of pathogenicity377015571RCV000548147|RCV001130211|RCV001130212|RCV001130213|RCV001130214|RCV001130215; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:21794969301794969302:g.179496930G>CClinGen:CA1995817C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr)7273TTNConflicting interpretations of pathogenicity181189778RCV000040242|RCV000463518|RCV000725048|RCV000852859|RCV001130917|RCV001130918|RCV001130920|RCV001130919|RCV001130921|RCV001171013|RCV002399389; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:C3661900|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:60033421794969311794969312:g.179496931A>TClinGen:CA139670C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys)7273TTNBenign/Likely benign12471771RCV000040241|RCV000125798|RCV000233625|RCV000247086|RCV000267677|RCV000304124|RCV000298987|RCV000338748|RCV000407844|RCV000769018; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:001140021794970181794970182:g.179497018G>AClinGen:CA232496CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.43596T>C (p.Asn14532=)7273TTNBenign16866423RCV000040240|RCV000246219|RCV000264203|RCV000270033|RCV000325289|RCV000328609|RCV000383197|RCV000465625|RCV000769019|RCV000993440; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011421794970251794970252:g.179497025A>GClinGen:CA283239CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.43481-16dup7273TTNBenign/Likely benign730880350RCV000155834|RCV000468420|RCV001697151|RCV001840167|RCV001840168|RCV001840169|RCV001840170; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221794971481794971492:g.179497148_179497149insAClinGen:CA183621C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.43100T>C (p.Ile14367Thr)7273TTNUncertain significance397517572RCV000040235|RCV000642944|RCV001134006|RCV001134007|RCV001134008|RCV001134009|RCV001134010; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orp21794977581794977582:g.179497758A>GClinGen:CA139653C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.42978C>T (p.Tyr14326=)7273TTNConflicting interpretations of pathogenicity369959066RCV000154952|RCV000228754|RCV000253166|RCV001134012|RCV001134011|RCV001134013|RCV001135518|RCV001135519|RCV001171015|RCV001719967; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C185876321794980221794980222:g.179498022G>AClinGen:CA181817CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.42950G>C (p.Arg14317Pro)7273TTNConflicting interpretations of pathogenicity727505144RCV000273360|RCV000279393|RCV000315812|RCV000373977|RCV000380458|RCV000865015|RCV001721156; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MON21794980501794980502:g.179498050C>GClinGen:CA309802CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.42933T>C (p.Asn14311=)7273TTNConflicting interpretations of pathogenicity148528251RCV000263333|RCV000552297|RCV001130440|RCV001130441|RCV001130443|RCV001131170|RCV001130442|RCV002401979|RCV003235174; NMedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,21794981531794981532:g.179498153A>GClinGen:CA1995991C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.42891C>T (p.Gly14297=)7273TTNConflicting interpretations of pathogenicity550471556RCV000156052|RCV000292039|RCV000285996|RCV000341059|RCV000346971|RCV000401479|RCV000456625|RCV000617426; NMedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,21794981951794981952:g.179498195G>AClinGen:CA184077CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.42783A>G (p.Lys14261=)7273TTNBenign16866425RCV000040229|RCV000250133|RCV000263674|RCV000313122|RCV000371381|RCV000367809|RCV000407479|RCV001517438; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C18635992179498303179498303ClinGen:CA283224
NM_001267550.2(TTN):c.42434T>C (p.Met14145Thr)7273TTNUncertain significance794729427RCV000184512|RCV000260211|RCV000282780|RCV000318789|RCV000322746|RCV000355036|RCV000769024|RCV002390480; NMedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673621794987921794987922:g.179498792A>GClinGen:CA309793CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala)7273TTNConflicting interpretations of pathogenicity34706299RCV000040225|RCV000172337|RCV000294831|RCV000328437|RCV000343733|RCV000383259|RCV000399696|RCV000618332|RCV001079995|RCV002225277; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011421794991791794991792:g.179499179A>GClinGen:CA139618CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.42256T>A (p.Ser14086Thr)7273TTNUncertain significance777451130RCV000298653|RCV000300792|RCV000349716|RCV000401656|RCV000408364|RCV002488710|RCV003137955; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21794992521794992522:g.179499252A>TClinGen:CA1996115CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.42156C>T (p.Ile14052=)7273TTNBenign/Likely benign76815324RCV000040223|RCV000246384|RCV000270217|RCV000292230|RCV000332334|RCV000388973|RCV000380975|RCV000474772|RCV000769026; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C18635992179499352179499352ClinGen:CA283214CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.42071A>G (p.His14024Arg)7273TTNBenign/Likely benign2288563RCV000040222|RCV000245057|RCV000281810|RCV000334537|RCV000339841|RCV000373760|RCV000398430|RCV000475964|RCV000993437; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012121794995301794995302:g.179499530T>CClinGen:CA283209CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.42046G>C (p.Gly14016Arg)7273TTNConflicting interpretations of pathogenicity367751077RCV001134264|RCV001134265|RCV001134268|RCV001134266|RCV001134267; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21794995551794995552:g.179499555C>G-
NM_001267550.2(TTN):c.41958A>G (p.Ala13986=)7273TTNConflicting interpretations of pathogenicity186699871RCV000154953|RCV000245212|RCV000269359|RCV000309522|RCV000308082|RCV000366575|RCV000369715|RCV000845346|RCV001079462; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:001272179499958179499958ClinGen:CA295755CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.41569G>A (p.Ala13857Thr)7273TTNConflicting interpretations of pathogenicity144963490RCV001131403|RCV001131405|RCV001131404|RCV001131406|RCV001131407; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21795007291795007292:g.179500729C>T-
NM_001267550.2(TTN):c.41508T>C (p.Ala13836=)7273TTNBenign/Likely benign55847232RCV000040216|RCV000250028|RCV000262740|RCV000277481|RCV000330695|RCV000320179|RCV000372350|RCV000458003|RCV000993436; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,2179500790179500790ClinGen:CA283203
NM_001267550.2(TTN):c.41503C>T (p.Arg13835Trp)7273TTNUncertain significance886055278RCV000280155|RCV000282852|RCV000340174|RCV000342213|RCV000400823|RCV001764305; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MON21795007951795007952:g.179500795G>AClinGen:CA10612081CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.41468C>G (p.Pro13823Arg)7273TTNUncertain significance2060403983RCV001128859|RCV001128860|RCV001128861|RCV001135862|RCV001135863; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,O21795008301795008302:g.179500830G>C-
NM_001267550.2(TTN):c.41428G>A (p.Val13810Met)7273TTNConflicting interpretations of pathogenicity763668057RCV000184506|RCV000309772|RCV000343809|RCV000392746|RCV000370464|RCV000399409; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,21795008701795008702:g.179500870C>TClinGen:CA309775CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=)7273TTNConflicting interpretations of pathogenicity72650077RCV000040213|RCV000251423|RCV000263483|RCV000266898|RCV000312419|RCV000354706|RCV000355579|RCV000465879|RCV000770040|RCV001081405; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:001142179501351179501351ClinGen:CA283198
NM_001267550.2(TTN):c.40973A>G (p.Lys13658Arg)7273TTNConflicting interpretations of pathogenicity184713215RCV000154955|RCV000252544|RCV000467649|RCV001135957|RCV001135956|RCV001135958|RCV001134532|RCV001135955|RCV001697149|RCV001798508; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C267367721795014811795014812:g.179501481T>CClinGen:CA181823CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.40927+16C>T7273TTNBenign/Likely benign369965589RCV000442291|RCV001529605|RCV002061562|RCV001840516|RCV001840517|RCV001840518|RCV001840519|RCV002481301; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221795020801795020802:g.179502080G>AClinGen:CA1996349CN169374 not specified;
NM_001267550.2(TTN):c.40786+3G>A7273TTNConflicting interpretations of pathogenicity551963261RCV000288909|RCV000290238|RCV000324376|RCV000328989|RCV000377729|RCV000592340|RCV002521347; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,O21795047721795047722:g.179504772C>TClinGen:CA1996387CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.40634-9A>G7273TTNConflicting interpretations of pathogenicity373511249RCV000264192|RCV000304053|RCV000322272|RCV000352942|RCV000408205|RCV000555009|RCV000607770|RCV001718703; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orph21795053661795053662:g.179505366T>CClinGen:CA1996423C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del)7273TTNConflicting interpretations of pathogenicity727504199RCV000154076|RCV000194325|RCV000272958|RCV000295190|RCV000333713|RCV000325637|RCV000365323|RCV000382530|RCV000470298|RCV001171018|RCV002381487; NMedGen:C3661900|MedGen:CN169374|MedGen:CN239352|MedGen:CN239310|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D0021795060141795060162:g.179506014_179506016delClinGen:CA208429C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.40581A>G (p.Glu13527=)7273TTNConflicting interpretations of pathogenicity775954427RCV000242866|RCV000378788|RCV000725863|RCV000770043|RCV001132682|RCV001132684|RCV001132685|RCV001086023|RCV001132681|RCV001132683; NMedGen:CN230736|MedGen:CN169374|MedGen:C3661900|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet2179506020179506020NC_000002.11:g.179506020T>CClinGen:CA1996443CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.40543G>A (p.Val13515Ile)7273TTNUncertain significance727504200RCV000154077|RCV000723797|RCV001132688|RCV001136074|RCV001136076|RCV001136075|RCV001136077; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C267367721795069791795069792:g.179506979C>TClinGen:CA235129CN169374 not specified;
NM_001267550.2(TTN):c.40519C>T (p.Arg13507Cys)7273TTNConflicting interpretations of pathogenicity528749203RCV001129101|RCV001136078|RCV001136079|RCV001136080|RCV001136081|RCV002379656|RCV003326544; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21795070031795070032:g.179507003G>A-
NM_001267550.2(TTN):c.40515G>A (p.Pro13505=)7273TTNBenign/Likely benign367958537RCV000422837|RCV000470667|RCV001840512|RCV001840513|RCV001731674|RCV001840514|RCV001840515|RCV002379306|RCV002502486; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21795070071795070072:g.179507007C>TClinGen:CA1996468C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe)7273TTNConflicting interpretations of pathogenicity201944202RCV000040205|RCV000082399|RCV000279186|RCV000294379|RCV000336318|RCV000337656|RCV000385921|RCV000620121|RCV001086509|RCV001798149; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C185821795070241795070242:g.179507024C>AClinGen:CA139563CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.40408+7_40408+10dup7273TTNConflicting interpretations of pathogenicity397517560RCV000040204|RCV000309870|RCV000306130|RCV000339964|RCV000362130|RCV000398919|RCV000390916|RCV000770045|RCV001529184|RCV002054790; NMedGen:CN169374|MedGen:CN239310|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C00072179510636179510637NC_000002.11:g.179510637_179510640dupClinGen:CA139562
NM_001267550.2(TTN):c.40250C>T (p.Pro13417Leu)7273TTNBenign/Likely benign537578226RCV000714025|RCV001083479|RCV001840659|RCV001840660|RCV001840661|RCV001840662|RCV002497139; NMedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21795112591795112592:g.179511259G>AClinGen:CA1996524C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.40141+7G>A7273TTNBenign77960621RCV000470189|RCV001700186|RCV001729608|RCV001840582|RCV001840584|RCV001840583|RCV001840585; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C18635992179512101179512101NC_000002.11:g.179512101C>TClinGen:CA1996537C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.39766A>G (p.Lys13256Glu)7273TTNUncertain significance762177160RCV001132774|RCV001132771|RCV001132772|RCV001132773|RCV001132775; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21795149421795149422:g.179514942T>C-
NM_001267550.2(TTN):c.39709+7G>A7273TTNConflicting interpretations of pathogenicity750763722RCV000552140|RCV001132777|RCV001132778|RCV001136167|RCV001132776|RCV001136168|RCV003431089; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21795154711795154712:g.179515471C>TClinGen:CA1996625C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.39704C>G (p.Pro13235Arg)7273TTNBenign/Likely benign72650066RCV000040199|RCV000248300|RCV000260022|RCV000284584|RCV000319817|RCV000339648|RCV000374474|RCV000461991|RCV000770051|RCV000993433; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C185821795154831795154832:g.179515483G>CClinGen:CA283188CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.39616C>T (p.Pro13206Ser)7273TTNConflicting interpretations of pathogenicity186404793RCV000040198|RCV000285797|RCV000310247|RCV000346455|RCV000400718|RCV000400546|RCV000468407|RCV001719767; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858721795159791795159792:g.179515979G>AClinGen:CA139547C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.39465G>A (p.Val13155=)7273TTNConflicting interpretations of pathogenicity886055279RCV000262867|RCV000276165|RCV000298100|RCV000311435|RCV000370711|RCV001485167; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21795162621795162622:g.179516262C>TClinGen:CA10612082CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.39464-15T>C7273TTNUncertain significance2062964886RCV001136292|RCV001136294|RCV001136293|RCV001136295|RCV001136296; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21795162781795162782:g.179516278A>G-
NM_001267550.2(TTN):c.39296-13C>T7273TTNBenign/Likely benign372380420RCV000154958|RCV001726010|RCV001840151|RCV001840152|RCV001840153|RCV001840154|RCV002056067; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012721795167071795167072:g.179516707G>AClinGen:CA181833CN169374 not specified;
NM_001267550.2(TTN):c.39128-14T>C7273TTNConflicting interpretations of pathogenicity200916144RCV000040190|RCV000294097|RCV000295213|RCV000329232|RCV000383775|RCV000390094|RCV001727542|RCV002054789; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,21795170881795170882:g.179517088A>GClinGen:CA283182CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.39090G>A (p.Ala13030=)7273TTNConflicting interpretations of pathogenicity375519815RCV000302696|RCV000301451|RCV000356263|RCV000390517|RCV000391962|RCV000441149|RCV000525321; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21795172221795172222:g.179517222C>TClinGen:CA1996869C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.39045G>C (p.Val13015=)7273TTNBenign/Likely benign192464868RCV000040186|RCV000234657|RCV001839592|RCV001839593|RCV001839594|RCV001839595; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21795172671795172672:g.179517267C>GClinGen:CA139517C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.39044-15C>T7273TTNConflicting interpretations of pathogenicity749495580RCV000280121|RCV000333308|RCV000335130|RCV000386517|RCV000387863|RCV000606069|RCV002521348; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21795172831795172832:g.179517283G>AClinGen:CA1996887CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.38880A>G (p.Pro12960=)7273TTNBenign2742354RCV000464256|RCV000993432|RCV001796064|RCV001840594|RCV001840595|RCV001840596|RCV001840597; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221795176541795176542:g.179517654T>CClinGen:CA1996971C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.38708-4T>C7273TTNBenign/Likely benign200819643RCV000229974|RCV000426031|RCV001083904|RCV001840412|RCV001840414|RCV001840413|RCV001840415; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C186359921795180521795180522:g.179518052A>GClinGen:CA1997080C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.37956G>T (p.Val12652=)7273TTNBenign/Likely benign541757326RCV000457678|RCV001081813|RCV001840598|RCV001840600|RCV001840599|RCV001840601; NMedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp2179522307179522307NC_000002.11:g.179522307C>AClinGen:CA1997212C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.37722T>C (p.Val12574=)7273TTNBenign/Likely benign377422414RCV000232321|RCV000834738|RCV001289371|RCV001840404|RCV001840405|RCV001840407|RCV001840406; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C18373422179522874179522874NC_000002.11:g.179522874A>GClinGen:CA1997258C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.37525G>A (p.Glu12509Lys)7273TTNBenign/Likely benign201797790RCV000172673|RCV001082763|RCV001840217|RCV001840214|RCV001840216|RCV001840215|RCV001701694; NMedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,21795234501795234502:g.179523450C>TClinGen:CA238505C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.37461A>T (p.Glu12487Asp)7273TTNBenign200021871RCV000172798|RCV000204932|RCV001082249|RCV001840230|RCV001840232|RCV001840231|RCV001840233; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C186359921795235141795235142:g.179523514T>AClinGen:CA200099C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.37247C>T (p.Ser12416Leu)7273TTNBenign/Likely benign370765948RCV000172675|RCV001082974|RCV001840218|RCV001840219|RCV001840220|RCV001840221; NMedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21795265241795265242:g.179526524G>AClinGen:CA238510C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.36790+5G>T7273TTNUncertain significance752204534RCV001136520|RCV001136521|RCV001136517|RCV001136519|RCV001136518; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21795276881795276882:g.179527688C>A-
NM_001267550.2(TTN):c.36776C>T (p.Ala12259Val)7273TTNConflicting interpretations of pathogenicity755562550RCV000174971|RCV000281125|RCV000360532|RCV000340850|RCV000398847|RCV000394487|RCV000724464; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21795277071795277072:g.179527707G>AClinGen:CA240621CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.36701-16A>G7273TTNBenign/Likely benign577899845RCV000429553|RCV001726168|RCV001840544|RCV001840545|RCV001840546|RCV001840547; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012721795277981795277982:g.179527798T>CClinGen:CA1997359CN169374 not specified;
NM_001267550.2(TTN):c.36676A>G (p.Lys12226Glu)7273TTNBenign/Likely benign200815663RCV000172676|RCV000233930|RCV001840223|RCV001840222|RCV001729425|RCV001840224|RCV001840225; NMedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,21795280171795280172:g.179528017T>CClinGen:CA238512C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.36625G>T (p.Val12209Leu)7273TTNBenign72650053RCV000172799|RCV000475308|RCV001573891|RCV001840234|RCV001840235|RCV001840236|RCV001840237; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221795280681795280682:g.179528068C>AClinGen:CA200101C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.36509A>T (p.Glu12170Val)7273TTNBenign/Likely benign200840285RCV000172677|RCV000517437|RCV001081269|RCV001840226|RCV001840227|RCV001840228|RCV001840229; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221795283771795283772:g.179528377T>AClinGen:CA238514C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.36489G>A (p.Ala12163=)7273TTNBenign/Likely benign115493456RCV000834689|RCV001083685|RCV001289369|RCV001840392|RCV001840393|RCV001840394|RCV001840395; NMedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221795283971795283972:g.179528397C>TClinGen:CA1997445C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.36347A>G (p.Glu12116Gly)7273TTNBenign/Likely benign200513156RCV000172801|RCV000230117|RCV000997491|RCV001840242|RCV001840243|RCV001840244|RCV001840245; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221795287591795287592:g.179528759T>CClinGen:CA200105C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.36318A>G (p.Lys12106=)7273TTNBenign2115557RCV000835186|RCV001082039|RCV001840328|RCV001840329|RCV001840331|RCV001840330; NMedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp2179528788179528788NC_000002.11:g.179528788T>CClinGen:CA349955C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.36299A>T (p.Glu12100Val)7273TTNBenign73973133RCV000172802|RCV000832261|RCV001079294|RCV001840246|RCV001840248|RCV001840247|RCV001840249; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C18635992179528807179528807NC_000002.11:g.179528807T>AClinGen:CA200107C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.36285C>T (p.His12095=)7273TTNBenign/Likely benign201184203RCV000227285|RCV001085907|RCV001699244|RCV001840388|RCV001840390|RCV001840389|RCV001840391; NMedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C186359921795288211795288212:g.179528821G>AClinGen:CA1997559C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.36203-9T>C7273TTNBenign2562849RCV000463948|RCV000993428|RCV001700378|RCV001840610|RCV001840611|RCV001840612|RCV001840613; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221795292731795292732:g.179529273A>GClinGen:CA1997610C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.36126A>C (p.Glu12042Asp)7273TTNBenign/Likely benign113231696RCV000229446|RCV001573253|RCV001699258|RCV001840384|RCV001840385|RCV001840386|RCV001840387; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C18373422179529457179529457NC_000002.11:g.179529457T>GClinGen:CA1997646C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.35154dup (p.Val11719fs)7273TTNConflicting interpretations of pathogenicity2067087661RCV001045672|RCV002249650; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:60921795367701795367712:g.179536770_179536771insT-
NM_001267550.2(TTN):c.34856-17A>G7273TTNBenign/Likely benign188686309RCV000605739|RCV001840709|RCV001840710|RCV001840711|RCV001840712|RCV001811118|RCV002066770; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673621795372251795372252:g.179537225T>CClinGen:CA1997945CN169374 not specified;
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly)7273TTNBenign/Likely benign201167067RCV000040176|RCV000468589|RCV001081714|RCV001839588|RCV001839590|RCV001839589|RCV001839591|RCV002490557; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C186359921795383771795383772:g.179538377T>CClinGen:CA139480C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.34768G>C (p.Glu11590Gln)7273TTNConflicting interpretations of pathogenicity764974634RCV001133183|RCV001133182|RCV001133184|RCV001133180|RCV001133181|RCV003142066; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MON21795383781795383782:g.179538378C>G-
NM_001267550.2(TTN):c.34721T>C (p.Ile11574Thr)7273TTNUncertain significance368157806RCV000184472|RCV001133185|RCV001134646|RCV001134648|RCV001134645|RCV001134647|RCV001508118|RCV002485239; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21795384251795384252:g.179538425A>GClinGen:CA309683CN169374 not specified;
NM_001267550.2(TTN):c.34708+8C>A7273TTNBenign/Likely benign762808097RCV000232102|RCV000593073|RCV001199178|RCV001840380|RCV001840382|RCV001840381|RCV001840383|RCV002494637; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:CN169374||MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Or21795390331795390332:g.179539033G>TClinGen:CA1998005C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.34696G>T (p.Ala11566Ser)7273TTNConflicting interpretations of pathogenicity556948427RCV001129635|RCV001134649|RCV001134650|RCV001134651|RCV001134652|RCV003142057; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MON21795390531795390532:g.179539053C>A-
NM_001267550.2(TTN):c.34601T>C (p.Leu11534Pro)7273TTNConflicting interpretations of pathogenicity376836503RCV000282866|RCV000343895|RCV000342567|RCV000378554|RCV000400624|RCV000558741|RCV001721146; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21795397771795397772:g.179539777A>GClinGen:CA309016C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp)7273TTNConflicting interpretations of pathogenicity140640738RCV000040174|RCV000082392|RCV000309400|RCV000315049|RCV000350143|RCV000369677|RCV000399534|RCV000852870|RCV001082919|RCV001798146; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C186321795398121795398122:g.179539812T>GClinGen:CA139474C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.34453+14G>A7273TTNBenign/Likely benign397517550RCV000040173|RCV000262542|RCV000268606|RCV000322314|RCV000357439|RCV000376938|RCV001795023|RCV002054788; NMedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858721795406341795406342:g.179540634C>TClinGen:CA139473CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.34379-14T>C7273TTNBenign/Likely benign727505341RCV000156893|RCV001689705|RCV001840200|RCV001840201|RCV001840202|RCV001840203|RCV001850172; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012721795407361795407362:g.179540736A>GClinGen:CA185787CN169374 not specified;
NM_001267550.2(TTN):c.34379-15A>G7273TTNConflicting interpretations of pathogenicity764544769RCV000297820|RCV000301196|RCV000336367|RCV000401394|RCV000395976|RCV000610712|RCV001699320|RCV002057624; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,O21795407371795407372:g.179540737T>CClinGen:CA1998081CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del)7273TTNConflicting interpretations of pathogenicity397517549RCV000040171|RCV000157573|RCV000265995|RCV000269293|RCV000304720|RCV000326725|RCV000358341|RCV000361578|RCV000461729|RCV001170392|RCV001811293; NMedGen:CN169374|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600, Orphanet:155|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MedGen:CN239310|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|Human21795423901795423922:g.179542390_179542392delClinGen:CA139469C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.34248A>C (p.Glu11416Asp)7273TTNUncertain significance780920687RCV001129756|RCV001129753|RCV001129754|RCV001129755|RCV001134743; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,O21795423911795423912:g.179542391T>G-
NM_001267550.2(TTN):c.34216C>A (p.Pro11406Thr)7273TTNConflicting interpretations of pathogenicity532102837RCV000172361|RCV000248449|RCV000282781|RCV000337132|RCV000340184|RCV000371985|RCV000394687|RCV000603350|RCV000770054|RCV001084484; NMedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,21795424231795424232:g.179542423G>TClinGen:CA238045CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.34201G>A (p.Glu11401Lys)7273TTNConflicting interpretations of pathogenicity765827814RCV000308885|RCV000362500|RCV000367572|RCV000398800|RCV000399587|RCV000596957|RCV000642974; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MON21795424381795424382:g.179542438C>TClinGen:CA1998122C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.34140A>G (p.Glu11380=)7273TTNConflicting interpretations of pathogenicity147418835RCV000259807|RCV000275254|RCV000332773|RCV000371038|RCV000374409|RCV000538959|RCV000596218|RCV000997501|RCV001170393; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MON21795424991795424992:g.179542499T>CClinGen:CA1998133C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.34062A>G (p.Glu11354=)7273TTNConflicting interpretations of pathogenicity886055281RCV000282323|RCV000285991|RCV000321228|RCV000343351|RCV000378201|RCV000431074|RCV001432705; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21795425771795425772:g.179542577T>CClinGen:CA10613325CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.34015G>A (p.Val11339Ile)7273TTNUncertain significance886055282RCV000310896|RCV000347048|RCV000367962|RCV000401828|RCV000397698; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21795426241795426242:g.179542624C>TClinGen:CA10613326CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.33910+3A>G7273TTNUncertain significance-1RCV003148004|RCV003148003|RCV003148005|RCV003148006|RCV003148007|RCV003148008; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0013412,MedGen:C1861065,OMIM:613765|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:00113622179543138179543138-
NM_001267550.2(TTN):c.33856G>A (p.Glu11286Lys)7273TTNConflicting interpretations of pathogenicity376874956RCV000040165|RCV000264717|RCV000261380|RCV000300081|RCV000315424|RCV000353902|RCV000643124|RCV000714019|RCV001170394; NMedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837321795431951795431952:g.179543195C>TClinGen:CA139449C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.33826+7G>A7273TTNConflicting interpretations of pathogenicity752099208RCV000607148|RCV001134975|RCV001134976|RCV001134977|RCV001133483|RCV001133484; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21795434671795434672:g.179543467C>TClinGen:CA1998224CN169374 not specified;
NM_001267550.2(TTN):c.33754C>T (p.Pro11252Ser)7273TTNUncertain significance886055283RCV000294919|RCV000347807|RCV000352024|RCV000386866|RCV000396202; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MON21795435461795435462:g.179543546G>AClinGen:CA10611688CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.33742+11A>G7273TTNBenign/Likely benign72650042RCV000040161|RCV001129944|RCV001129945|RCV001129946|RCV001130645|RCV001130644|RCV001528875|RCV002054786; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,21795440551795440552:g.179544055T>CClinGen:CA283158CN169374 not specified;
NM_001267550.2(TTN):c.33601C>A (p.Pro11201Thr)7273TTNUncertain significance769195017RCV000473798|RCV001133616|RCV001133617|RCV001133619|RCV001130651|RCV001133618|RCV001653819; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MON2179544389179544389NC_000002.11:g.179544389G>TClinGen:CA1998298C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.33418+12C>A7273TTNConflicting interpretations of pathogenicity199772748RCV000217318|RCV001135114|RCV001135116|RCV001135117|RCV001135118|RCV001135115|RCV002057156; NMedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C183732179544969179544969NC_000002.11:g.179544969G>TClinGen:CA1998349CN169374 not specified;
NM_001267550.2(TTN):c.33331G>A (p.Ala11111Thr)7273TTNConflicting interpretations of pathogenicity545067681RCV000544688|RCV001130792|RCV001130794|RCV001130796|RCV001130793|RCV001130795; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:2179545815179545815NC_000002.11:g.179545815C>TClinGen:CA1998386C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.33287G>A (p.Arg11096His)7273TTNBenign/Likely benign36051007RCV000040156|RCV000251495|RCV000270218|RCV000273725|RCV000331522|RCV000327674|RCV000362564|RCV000993424|RCV001514403; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012721795458591795458592:g.179545859C>TClinGen:CA283147CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.33248-8C>G7273TTNUncertain significance766957102RCV000219936|RCV000725497|RCV001135255|RCV001133758|RCV001135252|RCV001135253|RCV001135254; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,21795459061795459062:g.179545906G>CClinGen:CA1998404CN169374 not specified;
NM_001267550.2(TTN):c.33001G>A (p.Glu11001Lys)7273TTNUncertain significance-1RCV003148020|RCV003148018|RCV003148022|RCV003148019|RCV003148021|RCV003148023; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0013412,MedGen:C1861065,OMIM:613765|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MOND2179547517179547517-
NM_001267550.2(TTN):c.32858C>T (p.Ala10953Val)7273TTNUncertain significance773225325RCV000517283|RCV000765581|RCV001131056|RCV001131057|RCV001134014|RCV001134015|RCV001134016|RCV003139726; NMedGen:CN169374|6 conditions|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,21795479671795479672:g.179547967G>AClinGen:CA1998508CN169374 not specified;
NM_001267550.2(TTN):c.32837A>T (p.Glu10946Val)7273TTNConflicting interpretations of pathogenicity763205133RCV001134018|RCV001134020|RCV001134017|RCV001134019|RCV001134021; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MON21795479881795479882:g.179547988T>A-
NM_001267550.2(TTN):c.32743G>C (p.Ala10915Pro)7273TTNBenign/Likely benign72650032RCV000040147|RCV000251106|RCV000459932|RCV001573207|RCV001839584|RCV001839585|RCV001839586|RCV001839587; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:001212721795487891795487892:g.179548789C>GClinGen:CA139416CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.32591A>G (p.Lys10864Arg)7273TTNUncertain significance767155246RCV000284778|RCV000288214|RCV000339749|RCV000343239|RCV000397740|RCV000732281|RCV002487475; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MON21795494401795494402:g.179549440T>CClinGen:CA1998590CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.32571G>T (p.Lys10857Asn)7273TTNConflicting interpretations of pathogenicity370317568RCV001130558|RCV001130560|RCV001130559|RCV001130556|RCV001130557|RCV003142060; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,21795494601795494602:g.179549460C>A-
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser)7273TTNConflicting interpretations of pathogenicity201738153RCV000040141|RCV000254304|RCV000725191|RCV001082304|RCV001130562|RCV001130563|RCV001130561|RCV001131288|RCV001131289|RCV001798144; NMedGen:CN169374|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:001136221795494741795494742:g.179549474G>AClinGen:CA139397CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.32555-12G>T7273TTNConflicting interpretations of pathogenicity397517540RCV000040139|RCV001131290|RCV001131291|RCV001131294|RCV001131292|RCV001131293|RCV001535406|RCV002054785; NMedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858721795494881795494882:g.179549488C>AClinGen:CA139395CN169374 not specified;
NM_001267550.2(TTN):c.32471-1G>A7273TTNUncertain significance371725574RCV000174435|RCV000723286|RCV001060586|RCV002500468; NMedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|6 conditions21795497171795497172:g.179549717C>TClinGen:CA239986,ClinVar:424834CN169374 not specified;
NM_001267550.2(TTN):c.32393-12A>G7273TTNBenign/Likely benign16866434RCV000040136|RCV000274941|RCV000299985|RCV000314810|RCV000354422|RCV000369462|RCV001795022|RCV002054784; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858721795500691795500692:g.179550069T>CClinGen:CA283122CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.32371G>C (p.Val10791Leu)7273TTNUncertain significance765062133RCV000578051|RCV000577989|RCV000578105; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:1542179550266179550266NC_000002.11:g.179550266C>GClinGen:CA349549194C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.32367G>A (p.Lys10789=)7273TTNBenign/Likely benign79232842RCV000040135|RCV000231622|RCV001811291|RCV001839576|RCV001839577|RCV001839578|RCV001839579; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221795502701795502702:g.179550270C>TClinGen:CA283117C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.32211G>A (p.Glu10737=)7273TTNConflicting interpretations of pathogenicity747597729RCV001131412|RCV001131411|RCV001131413|RCV001131409|RCV001131410|RCV002070533|RCV002511049; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MON21795529381795529382:g.179552938C>T-
NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu)7273TTNConflicting interpretations of pathogenicity200952728RCV000184443|RCV000218769|RCV000643729|RCV000765584|RCV001134398|RCV001135864|RCV001135866|RCV001135865|RCV001135867|RCV003150065; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|6 conditions|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,Me21795538491795538492:g.179553849T>CClinGen:CA309614C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.32011+10C>G7273TTNBenign192002980RCV000228990|RCV000225704|RCV001839878|RCV001839880|RCV001839879|RCV001839881; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21795540071795540072:g.179554007G>CClinGen:CA223922C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.31871T>C (p.Val10624Ala)7273TTNUncertain significance2071792935RCV001128863|RCV001128865|RCV001128862|RCV001128864|RCV001128866; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21795542981795542982:g.179554298A>G-
NM_001267550.2(TTN):c.31857A>G (p.Val10619=)7273TTNUncertain significance886055286RCV000296798|RCV000316788|RCV000351614|RCV000372542|RCV000375924; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21795543121795543122:g.179554312T>CClinGen:CA10612087CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.31847-17A>G7273TTNBenign/Likely benign72650025RCV000125755|RCV001530108|RCV001839936|RCV001839937|RCV001839939|RCV002055601|RCV001839938; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C185821795543391795543392:g.179554339T>CClinGen:CA291443CN169374 not specified;
NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala)7273TTNConflicting interpretations of pathogenicity200213832RCV000040128|RCV000233950|RCV000725168|RCV001134533|RCV001134534|RCV001134535|RCV001135959|RCV001135960|RCV003398607; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C267367721795545491795545492:g.179554549G>CClinGen:CA139375C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.31806C>T (p.Pro10602=)7273TTNConflicting interpretations of pathogenicity370080995RCV000040127|RCV000231153|RCV000293056|RCV000308421|RCV000344333|RCV000347979|RCV000387481|RCV001170625|RCV001528269; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,21795545801795545802:g.179554580G>AClinGen:CA139371C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.31764C>T (p.Val10588=)7273TTNConflicting interpretations of pathogenicity766441395RCV000264759|RCV000301235|RCV000304548|RCV000359235|RCV000396495|RCV000643184; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21795546221795546222:g.179554622G>AClinGen:CA10613337C1858763 604145 Dilated cardiomyopathy 1G;
NM_133378.4(TTN):c.28030+5G>A7273TTNConflicting interpretations of pathogenicity145387989RCV000274853|RCV000330018|RCV000333420|RCV000387922|RCV000384577|RCV000555758|RCV001546516|RCV003235193; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21795567381795567382:g.179556738C>TClinGen:CA1998860C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.31757C>A (p.Pro10586Gln)7273TTNConflicting interpretations of pathogenicity200459347RCV000040123|RCV000725032|RCV001085078|RCV001131661|RCV001131663|RCV001131662|RCV001131664|RCV001131660|RCV001170626; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C267367721795567481795567482:g.179556748G>TClinGen:CA139360C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.31710G>C (p.Glu10570Asp)7273TTNUncertain significance1338646609RCV001136086|RCV001136083|RCV001136085|RCV001136082|RCV001136084; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orph21795567951795567952:g.179556795C>G-
NM_001267550.2(TTN):c.31645A>G (p.Ile10549Val)7273TTNConflicting interpretations of pathogenicity376613199RCV000537819|RCV001129104|RCV001136087|RCV001136088|RCV001136089|RCV001129105|RCV001584287|RCV001798883; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:2179557257179557257NC_000002.11:g.179557257T>CClinGen:CA1998891C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.31456A>T (p.Ile10486Phe)7273TTNConflicting interpretations of pathogenicity772882862RCV000283258|RCV000298390|RCV000338121|RCV000577995|RCV000578113|RCV000836499; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,O2179558706179558706NC_000002.11:g.179558706T>AClinGen:CA1998946C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.31441A>G (p.Thr10481Ala)7273TTNConflicting interpretations of pathogenicity370208651RCV000184436|RCV000729422|RCV001132780|RCV001132781|RCV001136174|RCV001136176|RCV001136175|RCV001170627; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C186321795587211795587212:g.179558721T>CClinGen:CA309596CN169374 not specified;
NM_001267550.2(TTN):c.31422G>A (p.Val10474=)7273TTNConflicting interpretations of pathogenicity72650020RCV000533749|RCV000600984|RCV001136178|RCV001136179|RCV001136180|RCV001136181|RCV001136177; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orp21795593301795593302:g.179559330C>TClinGen:CA1998968C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.31390C>T (p.Arg10464Trp)7273TTNConflicting interpretations of pathogenicity374555701RCV000462032|RCV001129211|RCV001129212|RCV001131900|RCV001131901|RCV001129213|RCV001569574; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MON2179559362179559362NC_000002.11:g.179559362G>AClinGen:CA1998969C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.31348+14C>T7273TTNUncertain significance2073303724RCV001131905|RCV001131904|RCV001131906|RCV001131902|RCV001131903; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21795595421795595422:g.179559542G>A-
NM_001267550.2(TTN):c.31274T>C (p.Ile10425Thr)7273TTNUncertain significance1198546466RCV001131907|RCV001132874|RCV001132876|RCV001132873|RCV001132875; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orph21795596301795596302:g.179559630A>G-
NM_001267550.2(TTN):c.31227T>G (p.Val10409=)7273TTNBenign/Likely benign748539440RCV000469228|RCV001672779|RCV001796065|RCV001840602|RCV001840603|RCV001840604|RCV001840605; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C18373422179560118179560118NC_000002.11:g.179560118A>CClinGen:CA1999012C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.31208-13G>A7273TTNConflicting interpretations of pathogenicity377135196RCV001132877|RCV001132878|RCV001132879|RCV001132880|RCV001136300|RCV000608575|RCV002062858; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orph21795601501795601502:g.179560150C>TClinGen:CA60992063CN169374 not specified;
NM_001267550.2(TTN):c.31207+5G>A7273TTNUncertain significance876658051RCV000221296|RCV001136302|RCV001136301|RCV001136303|RCV001136304|RCV001136305|RCV002503864|RCV002518223; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21795605871795605872:g.179560587C>TClinGen:CA10576544CN169374 not specified;
NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln)7273TTNConflicting interpretations of pathogenicity200831060RCV000273981|RCV000313900|RCV000329199|RCV000365255|RCV000368569|RCV000474657|RCV000733449|RCV003387790; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orph21795606851795606852:g.179560685C>GClinGen:CA309590C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.31010A>G (p.Tyr10337Cys)7273TTNUncertain significance886055287RCV000280491|RCV000286021|RCV000322342|RCV000380400|RCV000377045|RCV002502288; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21795607891795607892:g.179560789T>CClinGen:CA10612088CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.30978A>G (p.Val10326=)7273TTNUncertain significance2073654294RCV001132023|RCV001132022|RCV001132024|RCV001132961|RCV001132962; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21795608211795608212:g.179560821T>C-
NM_001267550.2(TTN):c.30941T>C (p.Ile10314Thr)7273TTNUncertain significance886055288RCV000267320|RCV000307147|RCV000324498|RCV000364189|RCV000396038|RCV000643169|RCV001700064; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21795608581795608582:g.179560858A>GClinGen:CA10611689C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.30888A>G (p.Lys10296=)7273TTNBenign/Likely benign587780978RCV000125751|RCV000460125|RCV001257072|RCV001839928|RCV001839930|RCV001839929|RCV001839931; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C18635992179560911179560911ClinGen:CA291437C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.30803-14T>C7273TTNUncertain significance2073693398RCV001129422|RCV001136395|RCV001136396|RCV001136397|RCV001136398; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,21795610101795610102:g.179561010A>G-
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe)7273TTNConflicting interpretations of pathogenicity111671438RCV000040111|RCV000172682|RCV000577956|RCV000578036|RCV000578117|RCV000852879|RCV001084360|RCV001129424|RCV001129423; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|Human Phenotype Ontology:HP:000163921795636061795636062:g.179563606C>AClinGen:CA139329C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.30683-28_30683-16del7273TTNBenign/Likely benign764830728RCV001198113|RCV002071851|RCV003222251; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:C366190021795636571795636692:g.179563657_179563669del-
NM_001267550.2(TTN):c.30683-21_30683-19del7273TTNBenign/Likely benign752002029RCV001293493|RCV001540674|RCV001840802|RCV001840799|RCV001840800|RCV001840801|RCV002538423; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C18632179563660179563662179563659-
NM_001267550.2(TTN):c.30682+7T>C7273TTNConflicting interpretations of pathogenicity752353097RCV000289919|RCV000295967|RCV000348593|RCV000388417|RCV000386803|RCV001490448; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21795658401795658402:g.179565840A>GClinGen:CA1999079CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.30598+15C>T7273TTNBenign79685525RCV000152379|RCV001727601|RCV001840096|RCV001840098|RCV001840095|RCV001840097|RCV002056014; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C186321795662401795662402:g.179566240G>AClinGen:CA295543CN169374 not specified;
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met)7273TTNConflicting interpretations of pathogenicity200593368RCV000040107|RCV000253899|RCV000260855|RCV000262132|RCV000300682|RCV000353220|RCV000385979|RCV000475078|RCV000725352|RCV001170630; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,21795669211795669212:g.179566921G>AClinGen:CA139313CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.30456G>C (p.Arg10152=)7273TTNConflicting interpretations of pathogenicity764333790RCV001133074|RCV001133072|RCV001133073|RCV002070554|RCV001136522|RCV001136523; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MON21795669501795669502:g.179566950C>G-
NM_001267550.2(TTN):c.30444G>A (p.Ser10148=)7273TTNBenign/Likely benign367901929RCV000040106|RCV000531925|RCV001701582|RCV001839571|RCV001839572|RCV001839574|RCV001839573; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221795669621795669622:g.179566962C>TClinGen:CA139309C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.30433+11T>G7273TTNConflicting interpretations of pathogenicity199848546RCV000040105|RCV001129515|RCV001129517|RCV001129516|RCV001129518|RCV001136529|RCV002054781; NMedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,21795671701795671702:g.179567170A>CClinGen:CA283082CN169374 not specified;
NM_001267550.2(TTN):c.30384T>C (p.Asp10128=)7273TTNBenign/Likely benign188584219RCV000040103|RCV000230929|RCV000287114|RCV000299397|RCV000339794|RCV000394456|RCV000404515|RCV001573562|RCV001798141; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,2179567230179567230ClinGen:CA283072C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.30224-8T>G7273TTNBenign/Likely benign72650010RCV000040100|RCV000283393|RCV000323625|RCV000322132|RCV000380528|RCV000381564|RCV000475585|RCV001170632; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673621795673981795673982:g.179567398A>CClinGen:CA210972C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.30137C>T (p.Thr10046Ile)7273TTNUncertain significance535268419RCV001129640|RCV001129639|RCV001129636|RCV001129637|RCV001129638; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,21795689601795689602:g.179568960G>A-
NM_001267550.2(TTN):c.29963-13A>G7273TTNConflicting interpretations of pathogenicity72650008RCV000040098|RCV000282220|RCV000335038|RCV000352559|RCV000374337|RCV000403313|RCV001529310|RCV002054780; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,21795691471795691472:g.179569147T>CClinGen:CA283066CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.29799G>A (p.Ser9933=)7273TTNBenign2742344RCV000040095|RCV000251889|RCV000262055|RCV000267600|RCV000320320|RCV000359135|RCV000371963|RCV000993418|RCV001512028; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C26736772179569400179569400ClinGen:CA283056
NM_001267550.2(TTN):c.29786A>G (p.Glu9929Gly)7273TTNUncertain significance1340062320RCV001134746|RCV001134744|RCV001134745|RCV001134747|RCV001133298; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21795694131795694132:g.179569413T>C-
NM_001267550.2(TTN):c.29605-12T>C7273TTNBenign/Likely benign143352892RCV000040092|RCV001129760|RCV001129758|RCV001129761|RCV001129757|RCV001129759|RCV001795020|RCV002054779; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21795697051795697052:g.179569705A>GClinGen:CA210971CN169374 not specified;
NM_001267550.2(TTN):c.29376G>A (p.Lys9792=)7273TTNConflicting interpretations of pathogenicity1560529237RCV001133383|RCV001133385|RCV001133387|RCV001133384|RCV001133386|RCV003106127; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21795712251795712252:g.179571225C>T-
NM_001267550.2(TTN):c.29317G>A (p.Ala9773Thr)7273TTNConflicting interpretations of pathogenicity371163094RCV000291685|RCV000304696|RCV000344234|RCV000390621|RCV000396317|RCV000470820|RCV000727772|RCV003317195; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21795712841795712842:g.179571284C>TClinGen:CA1999409C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.29153T>C (p.Ile9718Thr)7273TTNBenign/Likely benign4893852RCV000040088|RCV000242546|RCV000270874|RCV000290670|RCV000329733|RCV000385212|RCV000388876|RCV001510182; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221795714481795714482:g.179571448A>GClinGen:CA283041CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.29153T>G (p.Ile9718Ser)7273TTNUncertain significance4893852RCV001129856|RCV001129858|RCV001129857|RCV001129855|RCV001132577|RCV002491398|RCV001585996; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MON21795714481795714482:g.179571448A>C-
NM_001267550.2(TTN):c.29042-16G>A7273TTNBenign10203085RCV000180771|RCV001839924|RCV001839925|RCV001839926|RCV001839927|RCV002055599; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673621795716971795716972:g.179571697C>TClinGen:CA303085CN169374 not specified;
NM_001267550.2(TTN):c.28970C>T (p.Ser9657Leu)7273TTNBenign/Likely benign200049911RCV000040086|RCV000714006|RCV001084892|RCV001839567|RCV001839568|RCV001839569|RCV001839570; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221795723241795723242:g.179572324G>AClinGen:CA139274C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.28877C>A (p.Ala9626Asp)7273TTNUncertain significance397517530RCV000040084|RCV000471675|RCV001129947|RCV001129948|RCV001134989|RCV001134988|RCV001134990|RCV002472945|RCV002490555; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orp21795724171795724172:g.179572417G>TClinGen:CA139266C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.28754-11T>C7273TTNConflicting interpretations of pathogenicity146738622RCV001129949|RCV001129951|RCV001129952|RCV001129953|RCV001129950|RCV001718940|RCV002222564|RCV002064005; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21795725511795725512:g.179572551A>GClinGen:CA1999525CN169374 not specified;
NM_001267550.2(TTN):c.28681G>A (p.Ala9561Thr)7273TTNConflicting interpretations of pathogenicity373380202RCV000172370|RCV001130655|RCV001130656|RCV001130657|RCV001130658|RCV001133624; NMedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673621795743651795743652:g.179574365C>TClinGen:CA238069CN517202 not provided;
NM_001267550.2(TTN):c.28678G>A (p.Asp9560Asn)7273TTNBenign/Likely benign771843862RCV000220157|RCV001170637|RCV001722170|RCV001840376|RCV001840377|RCV001840378|RCV001840379; NMedGen:CN169374|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MO21795743681795743682:g.179574368C>TClinGen:CA1999553CN169374 not specified;
NM_001267550.2(TTN):c.28677C>T (p.Asn9559=)7273TTNBenign/Likely benign775065173RCV000184131|RCV000643308|RCV001840294|RCV001840295|RCV001840296|RCV001840297|RCV003430731; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp2179574369179574369ClinGen:CA309000
NM_001267550.2(TTN):c.28542G>A (p.Glu9514=)7273TTNConflicting interpretations of pathogenicity370604793RCV000312837|RCV000314113|RCV000338482|RCV000367535|RCV000394331|RCV000528891|RCV001718704|RCV003330642; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MON21795745041795745042:g.179574504C>TClinGen:CA1999574C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile)7273TTNConflicting interpretations of pathogenicity202160275RCV000152385|RCV000172372|RCV000242706|RCV000268918|RCV000265162|RCV000320266|RCV000328537|RCV000363523|RCV001085700|RCV001170857; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:001121795745391795745392:g.179574539C>TClinGen:CA178930CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.28359C>T (p.His9453=)7273TTNBenign/Likely benign372238447RCV000865489|RCV001288912|RCV001840758|RCV001840759|RCV001840760|RCV001840761; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21795754651795754652:g.179575465G>A-
NM_001267550.2(TTN):c.28353C>G (p.Ser9451Arg)7273TTNUncertain significance777096848RCV001133763|RCV001133764|RCV001133765|RCV001133766|RCV001135260; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orph21795754711795754712:g.179575471G>C-
NM_001267550.2(TTN):c.28317T>C (p.Ser9439=)7273TTNUncertain significance886055290RCV000306882|RCV000352130|RCV000366180|RCV000395934|RCV000402844; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21795755071795755072:g.179575507A>GClinGen:CA10613340CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln)7273TTNBenign/Likely benign72648998RCV000040078|RCV000252254|RCV000303436|RCV000322903|RCV000354348|RCV000358242|RCV000397370|RCV000461510|RCV000993415; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C183734221795755111795755112:g.179575511C>TClinGen:CA283031CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.28104A>G (p.Ala9368=)7273TTNConflicting interpretations of pathogenicity886055291RCV000259425|RCV000293543|RCV000319321|RCV000373879|RCV000388787|RCV001484151; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21795758591795758592:g.179575859T>CClinGen:CA10613147CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.27856G>T (p.Val9286Phe)7273TTNConflicting interpretations of pathogenicity777547707RCV000263381|RCV000302666|RCV000353530|RCV000362104|RCV000395631; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orph21795767011795767012:g.179576701C>AClinGen:CA1999715CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.27846C>T (p.Ser9282=)7273TTNBenign/Likely benign182355009RCV000040070|RCV000230887|RCV001839563|RCV001839565|RCV001839564|RCV001839566; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21795767111795767112:g.179576711G>AClinGen:CA139231C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.27793A>C (p.Asn9265His)7273TTNConflicting interpretations of pathogenicity397517524RCV000040069|RCV001131058|RCV001131059|RCV001131061|RCV001131060|RCV001131062|RCV003128574; NMedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837321795767641795767642:g.179576764T>GClinGen:CA139227CN169374 not specified;
NM_001267550.2(TTN):c.27747G>A (p.Thr9249=)7273TTNUncertain significance778970711RCV001134026|RCV001134022|RCV001134023|RCV001134024|RCV001134025; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21795768101795768102:g.179576810C>T-
NM_001267550.2(TTN):c.27709T>C (p.Ser9237Pro)7273TTNUncertain significance766638714RCV001199309; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:60921795768481795768482:g.179576848A>G-
NM_001267550.2(TTN):c.27702T>C (p.Ile9234=)7273TTNConflicting interpretations of pathogenicity143368674RCV000221682|RCV000244485|RCV000318601|RCV000289504|RCV000334030|RCV000368614|RCV000388555|RCV000472277|RCV000769904|RCV001080202; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:001212179576855179576855ClinGen:CA223913
NM_001267550.2(TTN):c.27654T>G (p.Val9218=)7273TTNConflicting interpretations of pathogenicity780101457RCV000284160|RCV000285128|RCV000328627|RCV000339169|RCV000405812|RCV000878877|RCV001697675; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,21795769031795769032:g.179576903A>CClinGen:CA1999748CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.27498G>A (p.Ser9166=)7273TTNConflicting interpretations of pathogenicity372528823RCV000040065|RCV000300773|RCV000335503|RCV000336995|RCV000394095|RCV000405514|RCV000724437|RCV001081198|RCV001170859; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21795771511795771512:g.179577151C>TClinGen:CA139209C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.27328+19C>G7273TTNUncertain significance974890499RCV001196004; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:60921795774051795774052:g.179577405G>C-
NM_001267550.2(TTN):c.27152G>C (p.Ser9051Thr)7273TTNUncertain significance2076871733RCV001196744; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:60921795776001795776002:g.179577600C>G-
NM_001267550.2(TTN):c.27124G>A (p.Val9042Ile)7273TTNConflicting interpretations of pathogenicity766095051RCV001131180|RCV001131181|RCV001134141|RCV001134142|RCV001134143|RCV001558016; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,21795776281795776282:g.179577628C>T-
NM_001267550.2(TTN):c.26818G>A (p.Gly8940Ser)7273TTNConflicting interpretations of pathogenicity201005813RCV000154970|RCV000172685|RCV001083461|RCV001131297|RCV001130564|RCV001131296|RCV001131298|RCV001131299; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C267367721795780431795780432:g.179578043C>TClinGen:CA181869C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.26753A>G (p.Gln8918Arg)7273TTNConflicting interpretations of pathogenicity760040495RCV001131303|RCV001131302|RCV001131300|RCV001131301|RCV001134279; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21795786321795786322:g.179578632T>C-
NM_001267550.2(TTN):c.26681C>T (p.Pro8894Leu)7273TTNBenign/Likely benign13398235RCV000040056|RCV000250866|RCV000263136|RCV000276072|RCV000298207|RCV000330033|RCV000368200|RCV001517441; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,21795787041795787042:g.179578704G>AClinGen:CA283004CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser)7273TTNConflicting interpretations of pathogenicity146057575RCV000040055|RCV000289133|RCV000284411|RCV000327811|RCV000333598|RCV000381135|RCV000488131|RCV001084221; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21795787131795787132:g.179578713T>CClinGen:CA139188C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.26655C>T (p.Ser8885=)7273TTNBenign2562839RCV000040054|RCV000244082|RCV000278395|RCV000300741|RCV000335859|RCV000341731|RCV000392145|RCV000993413|RCV001519597; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:001272179578730179578730ClinGen:CA282999CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.26618A>G (p.Asp8873Gly)7273TTNUncertain significance776032171RCV001134402|RCV001134399|RCV001134400|RCV001134401|RCV001135868; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21795787671795787672:g.179578767T>C-
NM_001267550.2(TTN):c.26597A>G (p.Asp8866Gly)7273TTNUncertain significance2077094217RCV001135869|RCV001135870|RCV001135871|RCV001135872|RCV001135873; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21795787881795787882:g.179578788T>C-
NM_001267550.2(TTN):c.26551T>G (p.Cys8851Gly)7273TTNUncertain significance558169834RCV001128870|RCV001128871|RCV001128869|RCV001135875|RCV001135874|RCV003142055; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orph21795788341795788342:g.179578834A>C-
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=)7273TTNConflicting interpretations of pathogenicity140003804RCV000040050|RCV000229613|RCV000272376|RCV000321184|RCV000324738|RCV000364621|RCV000378220|RCV000769046|RCV001084999; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C18582179579035179579035ClinGen:CA282994C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.26350T>C (p.Trp8784Arg)7273TTNConflicting interpretations of pathogenicity375067750RCV001128989|RCV001135961|RCV001135962|RCV001135963|RCV001135964; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,21795791511795791512:g.179579151A>G-
NM_001267550.2(TTN):c.26200+19A>T7273TTNBenign2562837RCV000180437|RCV001840040|RCV001840042|RCV001840043|RCV001840041|RCV002055626; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837321795796941795796942:g.179579694T>AClinGen:CA303069CN169374 not specified;
NM_001267550.2(TTN):c.26200+5G>A7273TTNUncertain significance727503645RCV000152393|RCV000262900|RCV000294802|RCV000329777|RCV000386818|RCV000381056|RCV000703552|RCV001562658|RCV002492566; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,21795797081795797082:g.179579708C>TClinGen:CA178953C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.26091A>T (p.Leu8697=)7273TTNBenign2562836RCV000040043|RCV000254452|RCV000266637|RCV000272605|RCV000297288|RCV000361414|RCV000357928|RCV000993411|RCV001519600; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,2179579822179579822ClinGen:CA282960CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.26012C>T (p.Pro8671Leu)7273TTNUncertain significance2077292301RCV001136090|RCV001136092|RCV001136091|RCV001136093|RCV001136094; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21795799011795799012:g.179579901G>A-
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile)7273TTNConflicting interpretations of pathogenicity141856116RCV000040041|RCV000118746|RCV000249830|RCV000268699|RCV000293596|RCV000327425|RCV000333139|RCV000382034|RCV000769050|RCV000852887|RCV001083462; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:001136221795799351795799352:g.179579935C>TClinGen:CA139162CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.25942A>G (p.Lys8648Glu)7273TTNConflicting interpretations of pathogenicity188234466RCV000222950|RCV000286098|RCV000329768|RCV000280133|RCV000335156|RCV000392294|RCV000724263; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673621795799711795799712:g.179579971T>CClinGen:CA247912CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.25921+20G>A7273TTNBenign/Likely benign148460010RCV000126156|RCV001725989|RCV001840037|RCV001840039|RCV001840036|RCV001840038|RCV002055625; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C186321795802001795802002:g.179580200C>TClinGen:CA291534CN169374 not specified;
NM_001267550.2(TTN):c.25809G>A (p.Ser8603=)7273TTNConflicting interpretations of pathogenicity369099681RCV000442226|RCV000865804|RCV001840500|RCV001840501|RCV001840502|RCV001840503|RCV003401415|RCV003422392; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21795803321795803322:g.179580332C>TClinGen:CA2000139CN169374 not specified;
NM_001267550.2(TTN):c.25758C>T (p.Asp8586=)7273TTNConflicting interpretations of pathogenicity372802604RCV000040038|RCV000290007|RCV000314787|RCV000345084|RCV000369514|RCV000393922|RCV000529441|RCV001697102; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,21795803831795803832:g.179580383G>AClinGen:CA139158C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.25704G>A (p.Arg8568=)7273TTNConflicting interpretations of pathogenicity150544093RCV000040034|RCV000266857|RCV000272529|RCV000321972|RCV000382248|RCV000376394|RCV000463917|RCV001083818|RCV001170864; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858721795804371795804372:g.179580437C>TClinGen:CA139146C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.25660A>G (p.Lys8554Glu)7273TTNConflicting interpretations of pathogenicity201945791RCV000382422|RCV001131908|RCV001131909|RCV001131910|RCV001131911|RCV001129214; NMedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858721795804811795804812:g.179580481T>CClinGen:CA2000162CN169374 not specified;
NM_001267550.2(TTN):c.25640-4A>G7273TTNUncertain significance886055292RCV000287558|RCV000293376|RCV000351807|RCV000348460|RCV000407195; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21795805051795805052:g.179580505T>CClinGen:CA10613154CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.25626G>T (p.Gln8542His)7273TTNBenign2562832RCV000040033|RCV000243395|RCV000265871|RCV000299458|RCV000306004|RCV000360749|RCV000390782|RCV000468055|RCV000993408; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012121795818351795818352:g.179581835C>AClinGen:CA282944CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.25521A>G (p.Val8507=)7273TTNUncertain significance886055293RCV000271595|RCV000277944|RCV000326693|RCV000366275|RCV000381789; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,21795819401795819402:g.179581940T>CClinGen:CA10611695CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His)7273TTNConflicting interpretations of pathogenicity149855485RCV000040029|RCV000082380|RCV000280234|RCV000293034|RCV000333108|RCV000374655|RCV000387544|RCV000852888|RCV001082276|RCV001798137; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,21795819711795819712:g.179581971C>TClinGen:CA139128C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu)7273TTNBenign/Likely benign72648986RCV000040028|RCV000241841|RCV000302726|RCV000308714|RCV000338984|RCV000342507|RCV000391137|RCV000476103|RCV001528416; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012721795820631795820632:g.179582063A>TClinGen:CA282939CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.25351+13C>G7273TTNBenign/Likely benign138362885RCV000040027|RCV001725952|RCV001839560|RCV001839562|RCV001839559|RCV001839561|RCV002054777; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C186321795822371795822372:g.179582237G>CClinGen:CA139127CN169374 not specified;
NM_001267550.2(TTN):c.25274G>A (p.Ser8425Asn)7273TTNBenign13390491RCV000040026|RCV000244612|RCV000268920|RCV000274111|RCV000331503|RCV000363498|RCV000369447|RCV000993407|RCV001519601; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012121795823271795823272:g.179582327C>TClinGen:CA282934CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.25223C>T (p.Thr8408Ile)7273TTNBenign/Likely benign201432372RCV000040024|RCV000463533|RCV001703898|RCV001839551|RCV001839552|RCV001839553|RCV001839554|RCV002490553; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221795823781795823782:g.179582378G>AClinGen:CA139123C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.25209T>C (p.Asp8403=)7273TTNBenign/Likely benign569860898RCV000126148|RCV000243716|RCV000459880|RCV001079401|RCV001840032|RCV001840033|RCV001840034|RCV001840035; NMedGen:CN169374|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:00121272179582392179582392ClinGen:CA291531CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.25196T>C (p.Leu8399Pro)7273TTNUncertain significance2077698375RCV001132965|RCV001132025|RCV001132966|RCV001132963|RCV001132964; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21795824051795824052:g.179582405A>G-
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu)7273TTNBenign/Likely benign2627043RCV000040020|RCV000249333|RCV000263461|RCV000285591|RCV000316218|RCV000324243|RCV000355884|RCV000993406|RCV001519602; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012121795825371795825372:g.179582537G>TClinGen:CA282917CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.24905C>A (p.Thr8302Lys)7273TTNConflicting interpretations of pathogenicity549604128RCV000223295|RCV000259426|RCV000264760|RCV000317070|RCV000322196|RCV000361848|RCV000764343|RCV000769054|RCV000993405; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,21795828281795828282:g.179582828G>TClinGen:CA2000326CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.24891G>C (p.Trp8297Cys)7273TTNUncertain significance727504205RCV000360627|RCV001129524|RCV001129526|RCV001129527|RCV001129523|RCV001129525; NMedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,21795828421795828422:g.179582842C>GClinGen:CA10605070CN169374 not specified;
NM_001267550.2(TTN):c.24756T>G (p.Asp8252Glu)7273TTNConflicting interpretations of pathogenicity764248656RCV000473976|RCV001134654|RCV001133195|RCV001133196|RCV001133197|RCV001134655|RCV001562414; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:2179583077179583077NC_000002.11:g.179583077A>CClinGen:CA2000366C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.24613A>G (p.Ile8205Val)7273TTNUncertain significance747306219RCV001129642|RCV001129641|RCV001129643|RCV001129644|RCV001134661; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,O21795832201795832202:g.179583220T>C-
NM_001267550.2(TTN):c.24579A>G (p.Thr8193=)7273TTNBenign/Likely benign72648979RCV000040006|RCV000229252|RCV000297959|RCV000337749|RCV000355099|RCV000390539|RCV000407384; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orp2179583254179583254ClinGen:CA282897C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.24528A>G (p.Arg8176=)7273TTNUncertain significance1162009739RCV001132358|RCV001132359|RCV001132360|RCV001132361|RCV001132362; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21795833051795833052:g.179583305T>C-
NM_001267550.2(TTN):c.24505+13C>T7273TTNBenign/Likely benign534803807RCV000214424|RCV001840344|RCV001840345|RCV001840346|RCV002057154|RCV001840347; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858721795834091795834092:g.179583409G>AClinGen:CA2000421CN169374 not specified;
NM_001267550.2(TTN):c.24471C>T (p.Gly8157=)7273TTNBenign/Likely benign113391261RCV000040003|RCV000253391|RCV000281144|RCV000277762|RCV000326295|RCV000387902|RCV000387214|RCV000474582|RCV000769056|RCV002227052; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C18582179583456179583456ClinGen:CA282887CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.24227-15C>T7273TTNBenign/Likely benign397517505RCV000039998|RCV000259355|RCV000274525|RCV000318059|RCV000366822|RCV000374960|RCV001795018|RCV002054776; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,21795837151795837152:g.179583715G>AClinGen:CA139061CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.23965C>T (p.Arg7989Cys)7273TTNConflicting interpretations of pathogenicity201653851RCV000154973|RCV000287568|RCV000326198|RCV000327268|RCV000387819|RCV000384268|RCV000725482|RCV001084561; NMedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837321795841521795841522:g.179584152G>AClinGen:CA181876C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.23925C>T (p.Ser7975=)7273TTNConflicting interpretations of pathogenicity374879942RCV000154974|RCV000476615|RCV001840155|RCV001840158|RCV001840157|RCV001840156|RCV003137671; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orp21795842941795842942:g.179584294G>AClinGen:CA181880C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.23675T>C (p.Ile7892Thr)7273TTNUncertain significance201181445RCV000251510|RCV001133500|RCV001133497|RCV001133498|RCV001133499|RCV001134991|RCV002503956|RCV003137861; NMedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,2179584544179584544NC_000002.11:g.179584544A>GClinGen:CA2000581CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.23654T>C (p.Val7885Ala)7273TTNUncertain significance2078098721RCV001129957|RCV001129955|RCV001129956|RCV001134998|RCV001134997; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21795847151795847152:g.179584715A>G-
NM_001267550.2(TTN):c.23601A>G (p.Ile7867Met)7273TTNUncertain significance1334032406RCV001129958|RCV001129960|RCV001129959|RCV001129961|RCV001129962; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MON21795847681795847682:g.179584768T>C-
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu)7273TTNConflicting interpretations of pathogenicity149523263RCV000039991|RCV000082372|RCV000293069|RCV000335014|RCV000352590|RCV000390050|RCV000406710|RCV000852891|RCV001082941|RCV001798135; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C183734221795848311795848312:g.179584831G>CClinGen:CA139042C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.23455G>C (p.Glu7819Gln)7273TTNConflicting interpretations of pathogenicity201420077RCV000217944|RCV000726095|RCV001133629|RCV001135125|RCV001135126|RCV001135127|RCV001135124; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C26736772179584914179584914NC_000002.11:g.179584914C>GClinGen:CA2000623CN169374 not specified;
NM_001267550.2(TTN):c.23392G>A (p.Val7798Met)7273TTNConflicting interpretations of pathogenicity144032104RCV000039989|RCV000726274|RCV001130096|RCV001135128|RCV001135130|RCV001135129|RCV001135131; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011421795849771795849772:g.179584977C>TClinGen:CA139034CN169374 not specified;
NM_001267550.2(TTN):c.23391C>T (p.Phe7797=)7273TTNConflicting interpretations of pathogenicity754815317RCV001130099|RCV001130101|RCV001130100|RCV001130097|RCV001130098|RCV002070518; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21795849781795849782:g.179584978G>A-
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu)7273TTNConflicting interpretations of pathogenicity17452588RCV000039983|RCV000248207|RCV000278120|RCV000284280|RCV000331984|RCV000337890|RCV000373899|RCV000372590|RCV000755421|RCV000770071|RCV001529703; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|Human Phenotype O21795853121795853122:g.179585312G>AClinGen:CA139019CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.23147G>T (p.Gly7716Val)7273TTNUncertain significance751284978RCV001130938|RCV001130939|RCV001130940|RCV001130941|RCV001130942; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21795853421795853422:g.179585342C>A-
NM_001267550.2(TTN):c.23099-3T>C7273TTNBenign2562830RCV000039980|RCV000249872|RCV000309372|RCV000308239|RCV000344428|RCV000391948|RCV000392006|RCV000993402|RCV001519606; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,21795853931795853932:g.179585393A>GClinGen:CA282850CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.23029G>A (p.Gly7677Arg)7273TTNConflicting interpretations of pathogenicity367826445RCV000152399|RCV000172690|RCV000247819|RCV000261369|RCV000273970|RCV000316577|RCV000368549|RCV000369809|RCV001085387; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|M21795857171795857172:g.179585717C>TClinGen:CA178971CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.22966A>G (p.Asn7656Asp)7273TTNConflicting interpretations of pathogenicity184123332RCV001131063|RCV001131064|RCV001131065|RCV001131066|RCV001134027|RCV003142062; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21795857801795857802:g.179585780T>C-
NM_001267550.2(TTN):c.22696G>A (p.Val7566Met)7273TTNUncertain significance2078438102RCV001134028|RCV001134029|RCV001135524|RCV001135525|RCV001135526; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MON21795866941795866942:g.179586694C>T-
NM_001267550.2(TTN):c.22673G>T (p.Gly7558Val)7273TTNUncertain significance886055294RCV000259953|RCV000301207|RCV000314168|RCV000354862|RCV000355973; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,O21795867171795867172:g.179586717C>AClinGen:CA10613156CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.22659G>A (p.Lys7553=)7273TTNUncertain significance2078449618RCV001130458|RCV001130460|RCV001130459|RCV001130456|RCV001130457; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MON21795867311795867312:g.179586731C>T-
NM_001267550.2(TTN):c.22611T>C (p.His7537=)7273TTNBenign/Likely benign16866469RCV000039972|RCV000242654|RCV000296103|RCV000290099|RCV000331096|RCV000351130|RCV000402050|RCV000465179|RCV000770075|RCV001529227; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C18635992179586779179586779ClinGen:CA282830
NM_001267550.2(TTN):c.22531C>T (p.Pro7511Ser)7273TTNUncertain significance727505333RCV000156882|RCV000726200|RCV003147366|RCV003147368|RCV003147370|RCV003147367|RCV003147369|RCV003147371; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013412,MedGen:C1861065,OMIM:613765|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858721795868591795868592:g.179586859G>AClinGen:CA185765CN169374 not specified;
NM_001267550.2(TTN):c.22528+12C>T7273TTNUncertain significance756012779RCV001131182|RCV001134151|RCV001134152|RCV001134149|RCV001134150; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,21795869741795869742:g.179586974G>A-
NM_001267550.2(TTN):c.22473C>T (p.Cys7491=)7273TTNConflicting interpretations of pathogenicity566454891RCV000278054|RCV000303166|RCV000337818|RCV000357914|RCV000393020|RCV000868462|RCV001672566; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,O21795870411795870412:g.179587041G>AClinGen:CA2000833CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.22439A>C (p.Gln7480Pro)7273TTNConflicting interpretations of pathogenicity201065037RCV000467240|RCV000727733|RCV001135645|RCV001135646|RCV001135647|RCV001135649|RCV001135648; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,21795870751795870752:g.179587075T>GClinGen:CA312010C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.22420G>A (p.Ala7474Thr)7273TTNConflicting interpretations of pathogenicity759713604RCV000185409|RCV000275340|RCV000304195|RCV000329111|RCV000365247|RCV000363577|RCV000458691|RCV001798659|RCV003422080; NMedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,21795870941795870942:g.179587094C>TClinGen:CA312007C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.22384G>C (p.Asp7462His)7273TTNBenign/Likely benign12693166RCV000039968|RCV000253623|RCV000282599|RCV000295291|RCV000317518|RCV000330188|RCV000372427|RCV000713991|RCV001523691; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C186359921795871301795871302:g.179587130C>GClinGen:CA282825CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.22240+14A>G7273TTNUncertain significance1288832655RCV001131305|RCV001131304|RCV001131306|RCV001134287|RCV001134288; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21795873721795873722:g.179587372T>C-
NM_001267550.2(TTN):c.22240+7A>C7273TTNConflicting interpretations of pathogenicity368101794RCV000154977|RCV000869214|RCV001134293|RCV001134289|RCV001134290|RCV001134291|RCV001134292|RCV001529553; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orp21795873791795873792:g.179587379T>GClinGen:CA181887CN169374 not specified;
NM_001267550.2(TTN):c.21981G>T (p.Thr7327=)7273TTNConflicting interpretations of pathogenicity775230627RCV000430689|RCV001128772|RCV001128773|RCV001131422|RCV001131423|RCV001131424|RCV001394487; NMedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673621795876451795876452:g.179587645C>AClinGen:CA16604212CN169374 not specified;
NM_001267550.2(TTN):c.21962-6C>T7273TTNConflicting interpretations of pathogenicity374870814RCV000527935|RCV001131425|RCV001131426|RCV001131428|RCV001131427|RCV001131429|RCV001269144|RCV001171046|RCV001712508; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MON21795876701795876702:g.179587670G>AClinGen:CA2000914C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.21956C>T (p.Thr7319Ile)7273TTNUncertain significance876658043RCV000217872|RCV000261341|RCV000264761|RCV000318694|RCV000322250|RCV000375614|RCV000713989; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21795877781795877782:g.179587778G>AClinGen:CA10576553CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.21844G>A (p.Glu7282Lys)7273TTNUncertain significance778532757RCV000287082|RCV000290156|RCV000344364|RCV000347487|RCV000382590|RCV000591613|RCV000770078; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MON21795878901795878902:g.179587890C>TClinGen:CA2000939CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr)7273TTNBenign/Likely benign187925021RCV000039960|RCV000172691|RCV000265623|RCV000262133|RCV000300897|RCV000322946|RCV000357981|RCV001086477|RCV001171047; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,21795879551795879552:g.179587955G>TClinGen:CA138967C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His)7273TTNConflicting interpretations of pathogenicity138853909RCV000039958|RCV000269064|RCV000326449|RCV000350254|RCV000388473|RCV000384905|RCV000713986|RCV001086766|RCV001170080; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21795881591795881592:g.179588159C>TClinGen:CA138962C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.21555C>A (p.Ile7185=)7273TTNConflicting interpretations of pathogenicity201155967RCV000154979|RCV000232778|RCV000271009|RCV000303705|RCV000307316|RCV000360759|RCV000364338|RCV000770081|RCV001081223; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C18582179588272179588272ClinGen:CA295759
NM_001267550.2(TTN):c.21506A>C (p.Asn7169Thr)7273TTNUncertain significance786205314RCV001131547|RCV001131548|RCV001134541|RCV001134542|RCV001134543; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21795883211795883212:g.179588321T>G-
NM_001267550.2(TTN):c.21489C>G (p.Thr7163=)7273TTNBenign/Likely benign376882041RCV000154981|RCV000534956|RCV001840028|RCV001840030|RCV001840029|RCV001840031; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp2179588338179588338ClinGen:CA295763C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr)7273TTNConflicting interpretations of pathogenicity201394117RCV000039953|RCV000082370|RCV000275531|RCV000278937|RCV000333001|RCV000367843|RCV000389765|RCV001079235|RCV001170083; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012721795886221795886222:g.179588622C>TClinGen:CA138945C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.21148C>T (p.Leu7050=)7273TTNConflicting interpretations of pathogenicity202089818RCV000154983|RCV000312387|RCV000343275|RCV000365169|RCV000392004|RCV000402063|RCV000725719|RCV001081065|RCV001170085; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,2179588838179588838ClinGen:CA295767C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn)7273TTNBenign/Likely benign72648962RCV000039951|RCV000204819|RCV000245217|RCV000261603|RCV000316047|RCV000319084|RCV000354529|RCV000369529|RCV000770083|RCV001082805; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:001212721795889961795889962:g.179588996C>TClinGen:CA282798CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val)7273TTNBenign/Likely benign72648960RCV000039950|RCV000253287|RCV000287787|RCV000323022|RCV000345071|RCV000376615|RCV000380025|RCV000469937|RCV000770084|RCV000993397; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012121795890581795890582:g.179589058G>AClinGen:CA282793CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.20861C>T (p.Ala6954Val)7273TTNBenign17355446RCV000039947|RCV000253741|RCV000291382|RCV000313861|RCV000348985|RCV000370842|RCV000400666|RCV001517444; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011421795892411795892412:g.179589241G>AClinGen:CA282783CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.20772G>T (p.Lys6924Asn)7273TTNUncertain significance369993514RCV000263538|RCV000298875|RCV000302460|RCV000355916|RCV000391091; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orph21795901591795901592:g.179590159C>AClinGen:CA10611698CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.20680G>C (p.Val6894Leu)7273TTNUncertain significance774362265RCV000266393|RCV000267277|RCV000321469|RCV000376061|RCV000381693; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21795902511795902512:g.179590251C>GClinGen:CA2001169CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.20418A>C (p.Lys6806Asn)7273TTNConflicting interpretations of pathogenicity768932465RCV000281508|RCV000296750|RCV000336597|RCV000351488|RCV000399478|RCV001704954; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MON21795906311795906312:g.179590631T>GClinGen:CA311930CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys)7273TTNConflicting interpretations of pathogenicity72648958RCV000039941|RCV000172694|RCV001079880|RCV001131917|RCV001131918|RCV001131919|RCV001132884|RCV001132883|RCV001798134; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C185876321795907081795907082:g.179590708C>TClinGen:CA138917C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.20326G>A (p.Ala6776Thr)7273TTNUncertain significance886055295RCV000311844|RCV000308080|RCV000348079|RCV000362729|RCV000406952|RCV001798790; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21795907231795907232:g.179590723C>TClinGen:CA10611699CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.20236G>A (p.Ala6746Thr)7273TTNBenign/Likely benign202108224RCV000039938|RCV000472656|RCV001703896|RCV001839531|RCV001839532|RCV001839534|RCV001839533; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221795918561795918562:g.179591856C>TClinGen:CA138904C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met)7273TTNConflicting interpretations of pathogenicity146627500RCV000039937|RCV000082367|RCV000260706|RCV000264795|RCV000304724|RCV000319862|RCV000359492|RCV000852896|RCV001082940|RCV001798132; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C267367721795919171795919172:g.179591917T>CClinGen:CA138899C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.20142C>T (p.Tyr6714=)7273TTNBenign/Likely benign535793314RCV000156726|RCV000877286|RCV001840196|RCV001840198|RCV001840197|RCV001840199; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21795919501795919502:g.179591950G>AClinGen:CA185441CN169374 not specified;
NM_001267550.2(TTN):c.20108G>A (p.Arg6703Gln)7273TTNConflicting interpretations of pathogenicity546821182RCV000727008|RCV001132033|RCV001132029|RCV001132031|RCV001132030|RCV001132032; NMedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21795919841795919842:g.179591984C>TClinGen:CA311913CN169374 not specified;
NM_001267550.2(TTN):c.20025C>A (p.Ala6675=)7273TTNBenign/Likely benign373842558RCV000039935|RCV000462609|RCV001839527|RCV001839528|RCV001839529|RCV001839530; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21795920671795920672:g.179592067G>TClinGen:CA138895C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.19994-13C>T7273TTNConflicting interpretations of pathogenicity775393005RCV001132976|RCV001132977|RCV001132978|RCV001136405|RCV001136406; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21795921111795921112:g.179592111G>A-
NM_001267550.2(TTN):c.19818A>G (p.Lys6606=)7273TTNBenign/Likely benign397517492RCV000039932|RCV000458095|RCV001839523|RCV001839525|RCV001839524|RCV001839526; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21795924871795924872:g.179592487T>CClinGen:CA138886C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.19770A>G (p.Thr6590=)7273TTNConflicting interpretations of pathogenicity775289296RCV001129430|RCV001129432|RCV001129431|RCV001129433|RCV001136412|RCV000828821|RCV001494210|RCV001729671; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,2179592535179592535NC_000002.11:g.179592535T>CClinGen:CA2001339C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.19497T>C (p.His6499=)7273TTNUncertain significance1223390157RCV001132155|RCV001132156|RCV001133077|RCV001133078|RCV001133079; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21795930541795930542:g.179593054A>G-
NM_001267550.2(TTN):c.19447T>C (p.Phe6483Leu)7273TTNUncertain significance373750655RCV001133080|RCV001133081|RCV000643103|RCV001133083|RCV001133082|RCV001133084|RCV001508477; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MON2179593104179593104NC_000002.11:g.179593104A>GClinGen:CA2001394C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.19377G>A (p.Val6459=)7273TTNConflicting interpretations of pathogenicity371652207RCV001129528|RCV001129529|RCV001136530|RCV001136531|RCV001136532|RCV001447814; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,O21795932761795932762:g.179593276C>T-
NM_001267550.2(TTN):c.19370T>C (p.Phe6457Ser)7273TTNUncertain significance2079785463RCV001129531|RCV001129533|RCV001129530|RCV001129532|RCV001129534; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,O21795932831795932832:g.179593283A>G-
NM_001267550.2(TTN):c.19356C>T (p.Ser6452=)7273TTNConflicting interpretations of pathogenicity369275615RCV000039927|RCV000274068|RCV000325828|RCV000329256|RCV000368729|RCV000383781|RCV000865191|RCV001079227; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21795932971795932972:g.179593297G>AClinGen:CA138877CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.19004A>G (p.Asp6335Gly)7273TTNBenign/Likely benign72648951RCV000039921|RCV000230099|RCV000309848|RCV000345911|RCV000349565|RCV000398547|RCV000399366|RCV000769065|RCV001573306; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,21795937611795937612:g.179593761T>CClinGen:CA282738C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.18942C>T (p.Thr6314=)7273TTNBenign/Likely benign572285982RCV000614645|RCV000870319|RCV001840697|RCV001840699|RCV001840700|RCV001840698; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21795938231795938232:g.179593823G>AClinGen:CA2001494CN169374 not specified;
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser)7273TTNConflicting interpretations of pathogenicity184412722RCV000039916|RCV000082364|RCV000262868|RCV000296922|RCV000302779|RCV000342596|RCV000355321|RCV000852901|RCV001082917|RCV001798131; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011421795940591795940592:g.179594059T>CClinGen:CA138852C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.18816T>C (p.Ile6272=)7273TTNConflicting interpretations of pathogenicity146219199RCV000039915|RCV000253545|RCV000272168|RCV000329497|RCV000330701|RCV000370173|RCV000387580|RCV000462864|RCV001170639|RCV001311557; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C186359921795940671795940672:g.179594067A>GClinGen:CA138848CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser)7273TTNConflicting interpretations of pathogenicity72648949RCV000039914|RCV000229581|RCV000246252|RCV000283432|RCV000289663|RCV000341928|RCV000340760|RCV000380242|RCV000852902|RCV001080584|RCV001170640; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|M21795941071795941072:g.179594107G>CClinGen:CA138843CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn)7273TTNConflicting interpretations of pathogenicity201263441RCV000039913|RCV000172695|RCV000313481|RCV000335088|RCV000370482|RCV000394105|RCV000390068|RCV001087573|RCV001170641|RCV001249282; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,21795941381795941382:g.179594138C>TClinGen:CA138838C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.18690C>T (p.Val6230=)7273TTNConflicting interpretations of pathogenicity754536598RCV001133392|RCV001133394|RCV001133390|RCV001133391|RCV001133393|RCV001400607; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MON21795941931795941932:g.179594193G>A-
NM_001267550.2(TTN):c.18669G>A (p.Thr6223=)7273TTNConflicting interpretations of pathogenicity772600691RCV000729688|RCV001079486|RCV001134870|RCV001134872|RCV001129859|RCV001134871|RCV001134873|RCV001701436; NMedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orp2179594214179594214NC_000002.11:g.179594214C>T-
NM_001267550.2(TTN):c.18531G>C (p.Val6177=)7273TTNBenign/Likely benign370684491RCV000039909|RCV000472261|RCV001811286|RCV001839519|RCV001839520|RCV001839521|RCV001839522; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221795944491795944492:g.179594449C>GClinGen:CA138824C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.18493A>G (p.Ile6165Val)7273TTNUncertain significance886055296RCV000278496|RCV000335931|RCV000350128|RCV000397817|RCV000400295; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21795944871795944872:g.179594487T>CClinGen:CA10611703CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.18472G>A (p.Asp6158Asn)7273TTNUncertain significance2080068286RCV001133501|RCV001133503|RCV001133504|RCV001133505|RCV001133502; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21795945081795945082:g.179594508C>T-
NM_001267550.2(TTN):c.18470T>C (p.Ile6157Thr)7273TTNConflicting interpretations of pathogenicity371882162RCV000605914|RCV001133506|RCV001133507|RCV001133508|RCV001135000|RCV001134999|RCV001724082; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orp21795945101795945102:g.179594510A>GClinGen:CA2001612CN169374 not specified;
NM_001267550.2(TTN):c.18390A>T (p.Thr6130=)7273TTNBenign/Likely benign66523653RCV000039908|RCV000264193|RCV000304188|RCV000310471|RCV000361210|RCV000362872|RCV000474141|RCV001530120; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp2179594590179594590ClinGen:CA282716
NM_001267550.2(TTN):c.18364T>C (p.Ser6122Pro)7273TTNUncertain significance2080087332RCV001130667|RCV001130669|RCV001130668|RCV001130670|RCV001130671|RCV001760092; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21795946161795946162:g.179594616A>G-
NM_001267550.2(TTN):c.18363G>A (p.Gln6121=)7273TTNBenign/Likely benign375032616RCV000039907|RCV000867159|RCV001573487|RCV001839515|RCV001839517|RCV001839516|RCV001839518; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C186359921795946171795946172:g.179594617C>TClinGen:CA138820CN169374 not specified;
NM_001267550.2(TTN):c.18247A>G (p.Ile6083Val)7273TTNConflicting interpretations of pathogenicity374012753RCV001135133|RCV001135132|RCV001135134|RCV001135135|RCV001135136|RCV003142070; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MON21795948801795948802:g.179594880T>C-
NM_001267550.2(TTN):c.18055_18056del (p.Gln6019fs)7273TTNUncertain significance2080219754RCV001196494; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:60921795950711795950722:g.179595071_179595072del-
NM_001267550.2(TTN):c.17396A>G (p.Lys5799Arg)7273TTNUncertain significance572678771RCV001135267|RCV001135268|RCV001135266|RCV001135269|RCV001135270; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MON21795960971795960972:g.179596097T>C-
NM_001267550.2(TTN):c.17328A>G (p.Ile5776Met)7273TTNUncertain significance928844023RCV001130234|RCV001130236|RCV001130945|RCV000643596|RCV001130235|RCV001130946|RCV003140011; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,O21795961651795961652:g.179596165T>CClinGen:CA60979211C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.17300G>A (p.Ser5767Asn)7273TTNBenign/Likely benign200692495RCV000039896|RCV000462843|RCV001703894|RCV001839511|RCV001839512|RCV001839513|RCV001839514; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221795961931795961932:g.179596193C>TClinGen:CA138796C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.17278del (p.Thr5760fs)7273TTNUncertain significance2080494323RCV001198234; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:60921795962151795962152:g.179596215_179596215del-
NM_001267550.2(TTN):c.17115C>T (p.Gly5705=)7273TTNBenign/Likely benign370036981RCV000218752|RCV000474595|RCV001697288|RCV001840336|RCV001840337|RCV001840339|RCV001840338; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221795964871795964872:g.179596487G>AClinGen:CA2001914C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.16934C>T (p.Pro5645Leu)7273TTNConflicting interpretations of pathogenicity370889765RCV000275139|RCV000309232|RCV000314970|RCV000366312|RCV000367396|RCV000476843|RCV000713978|RCV000770094; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,21795966681795966682:g.179596668G>AClinGen:CA2001941C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.16743T>C (p.Asp5581=)7273TTNConflicting interpretations of pathogenicity754798297RCV000264269|RCV000272606|RCV000324003|RCV000377541|RCV000378629|RCV001447964; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MON21795969531795969532:g.179596953A>GClinGen:CA2001982CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.16716A>G (p.Pro5572=)7273TTNConflicting interpretations of pathogenicity367821526RCV000713977|RCV001085832|RCV001135527|RCV001135528|RCV001135529|RCV001134032|RCV001135530; NMedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,21795969801795969802:g.179596980T>CClinGen:CA246404C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.16709C>T (p.Thr5570Ile)7273TTNUncertain significance535319438RCV000279494|RCV000280417|RCV000315829|RCV000349497|RCV000374930|RCV000397623|RCV000461528|RCV000770097|RCV003137956; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569|MedGen:CN239310|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:3421795969871795969872:g.179596987G>AClinGen:CA2001988C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.16563A>C (p.Thr5521=)7273TTNConflicting interpretations of pathogenicity886055297RCV000295528|RCV000310643|RCV000345720|RCV000365515|RCV000399838|RCV001454068; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21795972251795972252:g.179597225T>GClinGen:CA10613351CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys)7273TTNBenign/Likely benign72648939RCV000039887|RCV000172698|RCV000245937|RCV000266899|RCV000263772|RCV000317401|RCV000353553|RCV000362060|RCV000770099|RCV001083968; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:001271421795972591795972592:g.179597259T>CClinGen:CA238521CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.16422A>G (p.Gln5474=)7273TTNBenign/Likely benign371026448RCV000039886|RCV000473791|RCV001811284|RCV001839507|RCV001839509|RCV001839508|RCV001839510; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C186359921795973661795973662:g.179597366T>CClinGen:CA138768C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.16391G>C (p.Gly5464Ala)7273TTNConflicting interpretations of pathogenicity377023302RCV000770100|RCV001135656|RCV001135652|RCV001135653|RCV001135654|RCV001135655|RCV003141756; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM2179597397179597397NC_000002.11:g.179597397C>G-
NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg)7273TTNConflicting interpretations of pathogenicity190636272RCV000039885|RCV000172406|RCV001080301|RCV001130570|RCV001130571|RCV001130572|RCV001130573|RCV001135657|RCV003149638; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C185876321795975901795975902:g.179597590T>CClinGen:CA138763C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met)7273TTNConflicting interpretations of pathogenicity72648937RCV000039884|RCV000242487|RCV000293024|RCV000318931|RCV000333991|RCV000387402|RCV000387868|RCV000458298|RCV000770101|RCV000852911|RCV001529446; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C185821795976001795976002:g.179597600C>TClinGen:CA282698CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter)7273TTNConflicting interpretations of pathogenicity772235481RCV000312986|RCV000415222|RCV000814903|RCV003319194; NMedGen:CN517202|MONDO:MONDO:0013412,MedGen:C1861065,OMIM:613765; MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609; MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O2179597615179597615NC_000002.11:g.179597615G>AClinGen:CA10604206C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.16275G>A (p.Gly5425=)7273TTNConflicting interpretations of pathogenicity772821743RCV000289802|RCV000340159|RCV000343861|RCV000397399|RCV000395707|RCV000458923|RCV001464347; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21795976281795976282:g.179597628C>TClinGen:CA2002064C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.16212G>C (p.Arg5404Ser)7273TTNUncertain significance758704167RCV001198134; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:60921795976911795976912:g.179597691C>G-
NM_001267550.2(TTN):c.16060G>C (p.Asp5354His)7273TTNUncertain significance745578038RCV000299472|RCV000314592|RCV000349423|RCV000369281|RCV000390145|RCV002281087; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orph21795978431795978432:g.179597843C>GClinGen:CA2002096CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.16056T>C (p.Asp5352=)7273TTNConflicting interpretations of pathogenicity376820575RCV000270807|RCV000271953|RCV000307254|RCV000366454|RCV000377053|RCV000713976|RCV001080876|RCV001699321|RCV001798791; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,O21795978471795978472:g.179597847A>GClinGen:CA2002100C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.16055-9A>C7273TTNBenign/Likely benign368897883RCV000039881|RCV000468200|RCV001811283|RCV001839503|RCV001839504|RCV001839505|RCV001839506; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221795978571795978572:g.179597857T>GClinGen:CA138758C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.15850G>A (p.Val5284Met)7273TTNBenign/Likely benign66839174RCV000039878|RCV000232564|RCV001839495|RCV001839496|RCV001839497|RCV001839498|RCV003326337; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21795981701795981702:g.179598170C>TClinGen:CA138745C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.15831C>T (p.Pro5277=)7273TTNConflicting interpretations of pathogenicity780784090RCV000294245|RCV000314219|RCV000343781|RCV000349242|RCV000397496|RCV001427751; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orph21795981891795981892:g.179598189G>AClinGen:CA2002143C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.15797G>A (p.Arg5266Gln)7273TTNUncertain significance749816144RCV001135876|RCV001135877|RCV001135878|RCV001135879|RCV001135880|RCV002473204; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MON21795982231795982232:g.179598223C>T-
NM_001267550.2(TTN):c.15796C>T (p.Arg5266Ter)7273TTNConflicting interpretations of pathogenicity372277017RCV000118735|RCV000807735|RCV003159098|RCV003320566; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:CN517202|MONDO:MONDO:0007335,MeSH:C566121,MedGen:C1861537,OM2179598224179598224NC_000002.11:g.179598224G>AClinGen:CA269788C1838244 600334 Distal myopathy Markesbery-Griggs type;
NM_001267550.2(TTN):c.15792T>C (p.Ile5264=)7273TTNBenign/Likely benign12993099RCV000039877|RCV000245760|RCV000260559|RCV000305293|RCV000308776|RCV000360019|RCV000402114|RCV001523692; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C267367721795982281795982282:g.179598228A>GClinGen:CA282688CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.15775+15A>C7273TTNConflicting interpretations of pathogenicity776801864RCV001128872|RCV001128873|RCV001128874|RCV001131549|RCV001131550|RCV000610924|RCV002063204; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MON21795983261795983262:g.179598326T>GClinGen:CA2002166CN169374 not specified;
NM_001267550.2(TTN):c.15561G>T (p.Leu5187=)7273TTNBenign779159076RCV000252153|RCV000577965|RCV000578080|RCV000578017|RCV001840434|RCV001840435; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21795985551795985552:g.179598555C>AClinGen:CA10586804C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.15561G>A (p.Leu5187=)7273TTNBenign/Likely benign779159076RCV000247397|RCV000577943|RCV000577998|RCV000578057|RCV000868824|RCV001582888|RCV001840432|RCV001840433; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orp21795985551795985552:g.179598555C>TClinGen:CA2002201C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.15542G>C (p.Gly5181Ala)7273TTNBenign/Likely benign201185434RCV000039872|RCV000459290|RCV001703893|RCV001839487|RCV001839488|RCV001839489|RCV001839490; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221795985741795985742:g.179598574C>GClinGen:CA138729C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.15499C>A (p.Pro5167Thr)7273TTNUncertain significance1031284707RCV000596435|RCV001134557|RCV001135965|RCV001135967|RCV001135966|RCV001135968; NMedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,21795986171795986172:g.179598617G>TClinGen:CA60980607CN169374 not specified;
NM_001267550.2(TTN):c.15497-4C>G7273TTNUncertain significance2080975329RCV001128996|RCV001135969|RCV001135970|RCV001135971|RCV001135972; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21795986231795986232:g.179598623G>C-
NM_001267550.2(TTN):c.15408G>A (p.Ser5136=)7273TTNConflicting interpretations of pathogenicity761269554RCV000299401|RCV000305500|RCV000353276|RCV000395789|RCV000401034|RCV001412070|RCV002469132|RCV003311763; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,21795991431795991432:g.179599143C>TClinGen:CA2002230CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.15253G>A (p.Asp5085Asn)7273TTNUncertain significance374299783RCV001131671|RCV001131673|RCV001131672|RCV001131674|RCV001131675|RCV003142063; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,O21795992981795992982:g.179599298C>T-
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu)7273TTNConflicting interpretations of pathogenicity72648929RCV000039869|RCV000245443|RCV000273361|RCV000277012|RCV000331058|RCV000356589|RCV000369337|RCV000416068|RCV000769081|RCV000852913|RCV001079457|RCV002227928; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C267367721795994731795994732:g.179599473C>GClinGen:CA138719CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg)7273TTNBenign/Likely benign72648927RCV000039865|RCV000245664|RCV000279816|RCV000311934|RCV000337760|RCV000350497|RCV000462142|RCV000769083|RCV000852914|RCV000986944|RCV001528445|RCV002490552; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C186321795996671795996672:g.179599667G>CClinGen:CA282678CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.14973T>C (p.Tyr4991=)7273TTNConflicting interpretations of pathogenicity761666344RCV000270838|RCV000308711|RCV000315276|RCV000363107|RCV000365791|RCV000466438|RCV003430844; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21795996781795996782:g.179599678A>GClinGen:CA2002308C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.14873A>G (p.Tyr4958Cys)7273TTNConflicting interpretations of pathogenicity530572005RCV000643013|RCV001129113|RCV001129110|RCV001129111|RCV001129112|RCV001131798|RCV000713972; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21796003001796003002:g.179600300T>CClinGen:CA2002333C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.14860G>C (p.Asp4954His)7273TTNUncertain significance1443901302RCV001131805|RCV001131804|RCV001132783|RCV001132782|RCV001132784; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21796003131796003132:g.179600313C>G-
NM_001267550.2(TTN):c.14610C>T (p.Ser4870=)7273TTNBenign2742348RCV000039860|RCV000245943|RCV000266820|RCV000306880|RCV000302107|RCV000345343|RCV000397599|RCV000993388|RCV001523693; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C18635992179600563179600563ClinGen:CA282673
NM_001267550.2(TTN):c.14533G>A (p.Asp4845Asn)7273TTNConflicting interpretations of pathogenicity373378672RCV000039858|RCV000534664|RCV000724172|RCV001132890|RCV001132891|RCV001136315|RCV001136316|RCV001136317; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C186359921796006401796006402:g.179600640C>TClinGen:CA138675C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys)7273TTNBenign/Likely benign2742347RCV000039856|RCV000251788|RCV000260740|RCV000273429|RCV000305415|RCV000318332|RCV000353182|RCV000993387|RCV001511352; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C185821796006481796006482:g.179600648C>TClinGen:CA282661CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.14428A>C (p.Lys4810Gln)7273TTNConflicting interpretations of pathogenicity367630668RCV001129333|RCV001129332|RCV001129334|RCV001132034|RCV001132035|RCV001759891; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MON21796007451796007452:g.179600745T>G-
NM_001267550.2(TTN):c.14392C>T (p.Leu4798Phe)7273TTNUncertain significance2081388048RCV001132037|RCV001132039|RCV001132038|RCV001132040|RCV001132036; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MON21796007811796007812:g.179600781G>A-
NM_001267550.2(TTN):c.14213G>A (p.Arg4738Gln)7273TTNUncertain significance553541436RCV000289994|RCV000295899|RCV000330804|RCV000343829|RCV000381984|RCV000622189|RCV003137957; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orph21796029671796029672:g.179602967C>TClinGen:CA2002448CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.14153A>G (p.Lys4718Arg)7273TTNUncertain significance753558755RCV001136417|RCV001136416|RCV001136413|RCV001136414|RCV001136415; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MON21796030271796030272:g.179603027T>C-
NM_001267550.2(TTN):c.13689C>T (p.Asp4563=)7273TTNBenign/Likely benign369466156RCV000620520|RCV000868265|RCV000614198|RCV001840693|RCV001840694|RCV001840695|RCV001840696|RCV001697356; NMedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221796042711796042712:g.179604271G>AClinGen:CA2002542CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.13202G>A (p.Arg4401Gln)7273TTNBenign/Likely benign200431386RCV000041104|RCV000246916|RCV000469656|RCV001719779|RCV001839828|RCV001839829|RCV001839830|RCV001839831; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:001212721796047581796047582:g.179604758C>TClinGen:CA142012,UniProtKB:Q8WZ42#VAR_026691CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.12955G>A (p.Ala4319Thr)7273TTNBenign/Likely benign150137596RCV000840184|RCV001087009|RCV001288102|RCV001840741|RCV001840742|RCV001840743|RCV001840744; NMedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221796050051796050052:g.179605005C>T-
NM_001267550.2(TTN):c.12614T>C (p.Leu4205Ser)7273TTNUncertain significance1057518931RCV000414889|RCV001198382; NHuman Phenotype Ontology:HP:0011663,MedGen:C2063326|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:60921796053461796053462:g.179605346A>GClinGen:CA16043383C2063326 Right ventricular cardiomyopathy;
NM_001267550.2(TTN):c.12519_12520del (p.Glu4173fs)7273TTNUncertain significance1553939605RCV000642816|RCV001535773; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609; MON2179605440179605441NC_000002.11:g.179605440TC[1]ClinGen:CA658796093C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.12255T>C (p.Ile4085=)7273TTNBenign2742357RCV000041093|RCV000620728|RCV001511356|RCV001839800|RCV001839801|RCV001839802|RCV001839803; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C18373422179605705179605705ClinGen:CA284541CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.12235A>G (p.Ile4079Val)7273TTNBenign34070843RCV000041092|RCV000226559|RCV000618930|RCV000993385|RCV001839796|RCV001839798|RCV001839797|RCV001839799; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:001136221796057251796057252:g.179605725T>CClinGen:CA284536CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys)7273TTNConflicting interpretations of pathogenicity186624523RCV000154999|RCV000619410|RCV000713965|RCV000769092|RCV001328736; NMedGen:CN169374|MedGen:CN230736|MedGen:C3661900|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:60921796061721796061722:g.179606172C>TClinGen:CA181940CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.11422C>T (p.Pro3808Ser)7273TTNBenign2627037RCV000041076|RCV000619046|RCV000993383|RCV001521506|RCV001839776|RCV001839777|RCV001839778|RCV001839779; NMedGen:CN169374|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:001212721796065381796065382:g.179606538G>AClinGen:CA284506,UniProtKB:Q8WZ42#VAR_040125CN230736 Cardiovascular phenotype;
NM_133379.5(TTN):c.16001C>T (p.Pro5334Leu)7273TTNBenign/Likely benign151253841RCV000041061|RCV000172707|RCV000284884|RCV000297525|RCV000347993|RCV000342254|RCV000397132|RCV000403965; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MedGen:CN239310|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MedGen:CN239352|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,O21796111261796111262:g.179611126G>AClinGen:CA141907CN239310 Dilated Cardiomyopathy, Dominant;
NM_133379.5(TTN):c.14407G>A (p.Glu4803Lys)7273TTNUncertain significance2084167410RCV001197486; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:60921796127201796127202:g.179612720C>T-
NM_133379.5(TTN):c.13948C>T (p.Pro4650Ser)7273TTNConflicting interpretations of pathogenicity149748934RCV000041034|RCV000172712|RCV000578000; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:60921796131791796131792:g.179613179G>AClinGen:CA141850C1838244 600334 Distal myopathy Markesbery-Griggs type;
NM_133379.5(TTN):c.13364A>G (p.Lys4455Arg)7273TTNConflicting interpretations of pathogenicity142304137RCV000041022|RCV000415195|RCV000726846|RCV001198289; NMedGen:CN169374|Human Phenotype Ontology:HP:0001279,MedGen:C0039070; Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:60921796137631796137632:g.179613763T>CClinGen:CA141835C0007194 Hypertrophic cardiomyopathy;
NM_133379.5(TTN):c.11899T>C (p.Phe3967Leu)7273TTNUncertain significance182640468RCV000577984|RCV000577948|RCV000578063; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:1409222179615228179615228NC_000002.11:g.179615228A>GClinGen:CA60989923C1858763 604145 Dilated cardiomyopathy 1G;
NM_133379.5(TTN):c.11056T>C (p.Trp3686Arg)7273TTNUncertain significance184027783RCV000577987|RCV000578068|RCV000578100; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:6092179616071179616071NC_000002.11:g.179616071A>GClinGen:CA60991049C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.11255-17_11255-16del7273TTNBenign/Likely benign72647895RCV000184122|RCV001840290|RCV001840292|RCV001840293|RCV001840291|RCV002478631|RCV002516943; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837321796179231796179242:g.179617923_179617924delClinGen:CA308985CN169374 not specified;
NM_001267550.2(TTN):c.10931G>A (p.Ser3644Asn)7273TTNBenign/Likely benign78535378RCV000126052|RCV000154636|RCV001080034|RCV001840016|RCV001840017|RCV001840018|RCV001840019; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221796212721796212722:g.179621272C>TClinGen:CA232533C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.10854A>C (p.Gln3618His)7273TTNBenign79466278RCV000041117|RCV000232467|RCV001839868|RCV001839869|RCV001839870|RCV001839871|RCV003326340; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21796213491796213492:g.179621349T>GClinGen:CA142032C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.10850C>T (p.Ser3617Phe)7273TTNBenign57389274RCV000041116|RCV000471094|RCV001528720|RCV001839864|RCV001839866|RCV001839867|RCV001839865; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C186359921796213531796213532:g.179621353G>AClinGen:CA284591C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.10700G>A (p.Ser3567Asn)7273TTNBenign72955213RCV000041115|RCV000227153|RCV001530063|RCV001839860|RCV001839861|RCV001839862|RCV001839863; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221796215031796215032:g.179621503C>TClinGen:CA284587C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.10378C>G (p.Pro3460Ala)7273TTNConflicting interpretations of pathogenicity201735487RCV000152474|RCV000468123|RCV001840111|RCV001840112|RCV001840114|RCV001840113; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21796225691796225692:g.179622569G>CClinGen:CA179177C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.10256G>A (p.Ser3419Asn)7273TTNBenign2291310RCV000039852|RCV000251067|RCV000275658|RCV000301488|RCV000333056|RCV000367878|RCV000400937|RCV000993375|RCV001523697; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011421796237581796237582:g.179623758C>TClinGen:CA282654,UniProtKB:Q8WZ42#VAR_056083CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.10255A>G (p.Ser3419Gly)7273TTNUncertain significance1266502582RCV001132157|RCV001132158|RCV001132159|RCV001132160|RCV001132161; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orph21796237591796237592:g.179623759T>C-
NM_001267550.2(TTN):c.10191C>A (p.Asp3397Glu)7273TTNConflicting interpretations of pathogenicity773862320RCV000269589|RCV000282834|RCV000321505|RCV000327007|RCV000371165; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MON21796238231796238232:g.179623823G>TClinGen:CA2004154CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.10188A>G (p.Glu3396=)7273TTNConflicting interpretations of pathogenicity183336802RCV000039850|RCV000585488|RCV001081342|RCV001133087|RCV001136534|RCV001136536|RCV001136533|RCV001136535|RCV001798128|RCV002399384; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C186359921796238261796238262:g.179623826T>CClinGen:CA282640C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.10164G>T (p.Arg3388=)7273TTNConflicting interpretations of pathogenicity542799064RCV000280645|RCV000286304|RCV000334518|RCV000378395|RCV000406132|RCV002057626; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21796238501796238502:g.179623850C>AClinGen:CA2004158CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.10115-4G>A7273TTNConflicting interpretations of pathogenicity367648529RCV000578101|RCV000577970|RCV000578025|RCV000591543|RCV000619673|RCV000726929|RCV001083169; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202|MONDO:MONDO:001140021796239031796239032:g.179623903C>TClinGen:CA2004166CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.10115-6T>C7273TTNUncertain significance886055298RCV000262023|RCV000317328|RCV000330237|RCV000356896|RCV000371938; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21796239051796239052:g.179623905A>GClinGen:CA10613354CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln)7273TTNBenign/Likely benign34819099RCV000039848|RCV000205174|RCV000249819|RCV001134670|RCV001134672|RCV001134671|RCV001134673|RCV001134669|RCV001528575; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C267367721796289181796289182:g.179628918C>TClinGen:CA282632,UniProtKB:Q8WZ42#VAR_040123CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.10000G>A (p.Val3334Met)7273TTNUncertain significance886055299RCV000288606|RCV000313400|RCV000343603|RCV000349690|RCV000397542; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,O21796290181796290182:g.179629018C>TClinGen:CA10611714CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.9879A>G (p.Glu3293=)7273TTNBenign4894043RCV000040976|RCV000248023|RCV000259982|RCV000265831|RCV000305792|RCV000354969|RCV000360490|RCV000993520|RCV001523698; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C186359921796293631796293632:g.179629363T>CClinGen:CA284380CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.9703+17T>A7273TTNBenign/Likely benign377693857RCV000184121|RCV001529079|RCV001840288|RCV001840286|RCV001840287|RCV001840289|RCV002056965; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012721796310911796310912:g.179631091A>TClinGen:CA308984CN169374 not specified;
NM_001267550.2(TTN):c.9597A>G (p.Glu3199=)7273TTNBenign2291312RCV000040930|RCV000250698|RCV000293205|RCV000298130|RCV000351441|RCV000387371|RCV000403895|RCV000993512|RCV001521507; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,21796312141796312142:g.179631214T>CClinGen:CA284269CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.9512A>G (p.Asn3171Ser)7273TTNConflicting interpretations of pathogenicity139992576RCV000251789|RCV000727950|RCV000541705|RCV001133400|RCV001133396|RCV001133397|RCV001133398|RCV001133399|RCV003417863; NMedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C267367721796312991796312992:g.179631299T>CClinGen:CA2004300CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.9461A>G (p.Lys3154Arg)7273TTNBenign/Likely benign4893853RCV000040917|RCV000242068|RCV000270661|RCV000325661|RCV000331451|RCV000389547|RCV000364714|RCV000714123|RCV001521508; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,21796324961796324962:g.179632496T>CClinGen:CA284252,UniProtKB:Q8WZ42#VAR_040118CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.9348C>G (p.Ile3116Met)7273TTNConflicting interpretations of pathogenicity760230943RCV000283233|RCV000307509|RCV000347546|RCV000362254|RCV000402676|RCV000756845|RCV002446594; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21796326091796326092:g.179632609G>CClinGen:CA2004349CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.9116C>A (p.Thr3039Asn)7273TTNUncertain significance774523194RCV001129974|RCV001129973|RCV001129970|RCV001129971|RCV001129972|RCV001171060; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21796334471796334472:g.179633447G>T-
NM_001267550.2(TTN):c.8991C>A (p.Ile2997=)7273TTNConflicting interpretations of pathogenicity757524187RCV001130679|RCV001130680|RCV001130681|RCV001133638|RCV001133639|RCV002070523|RCV002375032; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21796335721796335722:g.179633572G>T-
NM_001267550.2(TTN):c.8902+14_8902+16delinsA7273TTNBenign786200994RCV000154094|RCV001840130|RCV001840127|RCV001840128|RCV001840129; NMedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,21796343901796343922:g.179634391_179634392delClinGen:CA180468CN169374 not specified;
NM_001267550.2(TTN):c.8902+14del7273TTNBenign573000455RCV000599999|RCV001528466|RCV001840717|RCV001840718|RCV001840719|RCV001840720|RCV002060624|RCV002491300; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012721796343921796343922:g.179634392_179634392delClinGen:CA2004503CN169374 not specified;
NM_001267550.2(TTN):c.8894C>A (p.Thr2965Lys)7273TTNUncertain significance1221486073RCV001198835; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:60921796344141796344142:g.179634414G>T-
NM_001267550.2(TTN):c.8887A>C (p.Thr2963Pro)7273TTNBenign200875815RCV000172804|RCV001840008|RCV001840009|RCV001840010|RCV001840011; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673621796344211796344212:g.179634421T>GClinGen:CA302641,UniProtKB:Q8WZ42#VAR_074293CN169374 not specified;
NM_001267550.2(TTN):c.8589A>G (p.Glu2863=)7273TTNConflicting interpretations of pathogenicity72647883RCV000152489|RCV000464622|RCV001130104|RCV001130105|RCV001130106|RCV001130107|RCV001130108|RCV001170099|RCV001531512|RCV002408676; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orp21796348391796348392:g.179634839T>CClinGen:CA179245C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.8290C>G (p.Leu2764Val)7273TTNUncertain significance-1RCV003147998|RCV003147999|RCV003147995|RCV003147997|RCV003148000|RCV003147996; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0013412,MedGen:C1861065,OMIM:613765|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|M2179635229179635229-
NM_001267550.2(TTN):c.8116+19G>A7273TTNBenign13011633RCV000126030|RCV001573870|RCV001840004|RCV001840006|RCV002055619|RCV001840005|RCV001840007; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011421796359191796359192:g.179635919C>TClinGen:CA291512CN169374 not specified;
NM_001267550.2(TTN):c.7891G>A (p.Val2631Ile)7273TTNConflicting interpretations of pathogenicity766753906RCV000301851|RCV000338450|RCV000341719|RCV000396832|RCV000405608|RCV001582975; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21796361631796361632:g.179636163C>TClinGen:CA2004717CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.7781T>C (p.Met2594Thr)7273TTNUncertain significance764016233RCV000281895|RCV000330923|RCV000334571|RCV000373922|RCV000388918; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MON21796379101796379102:g.179637910A>GClinGen:CA2004755CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.7705G>A (p.Asp2569Asn)7273TTNUncertain significance2091797961RCV001135417|RCV001135413|RCV001135415|RCV001135414|RCV001135416; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MON21796379861796379862:g.179637986C>T-
NM_001267550.2(TTN):c.7619G>A (p.Arg2540His)7273TTNConflicting interpretations of pathogenicity397517725RCV000040700|RCV000172460|RCV000242133|RCV000287099|RCV000309186|RCV000339655|RCV000347654|RCV000403204|RCV000463035; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:001212721796380721796380722:g.179638072C>TClinGen:CA140973CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.7524T>C (p.His2508=)7273TTNConflicting interpretations of pathogenicity2291307RCV000726199|RCV001131075|RCV001131076|RCV001131078|RCV001130366|RCV001131077|RCV001437139|RCV002379145|RCV002222478; NMedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21796382591796382592:g.179638259A>GClinGen:CA2004797CN169374 not specified;
NM_001267550.2(TTN):c.7408G>A (p.Val2470Ile)7273TTNUncertain significance1228257559RCV001134035|RCV001134037|RCV001134034|RCV001134036|RCV001134038; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MON21796383751796383752:g.179638375C>T-
NM_001267550.2(TTN):c.7403T>C (p.Val2468Ala)7273TTNUncertain significance886055300RCV000262705|RCV000320196|RCV000322639|RCV000353908|RCV000379536; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21796383801796383802:g.179638380A>GClinGen:CA10613356CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.7368G>C (p.Val2456=)7273TTNUncertain significance886055301RCV000282788|RCV000291912|RCV000344498|RCV000383137|RCV000405850; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MON21796384151796384152:g.179638415C>GClinGen:CA10612098CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser)7273TTNBenign/Likely benign4894048RCV000040647|RCV000250391|RCV000295307|RCV000312895|RCV000355835|RCV000352535|RCV000394645|RCV000714086|RCV001521510; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C267367721796387211796387212:g.179638721C>TClinGen:CA283833,UniProtKB:Q8WZ42#VAR_040111CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.7156G>A (p.Gly2386Ser)7273TTNConflicting interpretations of pathogenicity777101912RCV000267865|RCV000271336|RCV000297530|RCV000320627|RCV000358996|RCV000354761|RCV000413035|RCV001494675; NMedGen:CN239352|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|Human Phenotype Ontology:HP:0001621796387391796387392:g.179638739C>TClinGen:CA2004888CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.7023C>T (p.Asp2341=)7273TTNConflicting interpretations of pathogenicity761409144RCV000540735|RCV000608115|RCV001840670|RCV001840667|RCV001840669|RCV001798887|RCV001840668|RCV002367863|RCV003139823; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,2179638968179638968NC_000002.11:g.179638968G>AClinGen:CA2004919C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.6790+12C>T7273TTNConflicting interpretations of pathogenicity200187117RCV000152498|RCV000304236|RCV000334636|RCV000349481|RCV000405722|RCV000406832|RCV001705913|RCV002055618; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858721796396361796396362:g.179639636G>AClinGen:CA295558CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.6768G>A (p.Thr2256=)7273TTNUncertain significance886055302RCV000272767|RCV000303571|RCV000361742|RCV000365228|RCV000406022; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MON21796396701796396702:g.179639670C>TClinGen:CA10612101CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.6584A>G (p.Glu2195Gly)7273TTNConflicting interpretations of pathogenicity202032875RCV000172468|RCV000279091|RCV000282750|RCV000336583|RCV000375953|RCV000379439|RCV000540799|RCV002362888; NMedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858721796398541796398542:g.179639854T>CClinGen:CA238259C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs)7273TTNConflicting interpretations of pathogenicity587780494RCV000118780|RCV000621565|RCV000725865|RCV000795260|RCV003389238; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C18587632179639882179639883NC_000002.11:g.179639882_179639883insTGTCTGTTTCCTTACAClinGen:CA269798CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.6508+15T>C7273TTNConflicting interpretations of pathogenicity747722195RCV000220978|RCV000319679|RCV000354918|RCV000374363|RCV000260057|RCV000277654|RCV001596992|RCV002057158; NMedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837321796400681796400682:g.179640068A>GClinGen:CA2005029CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.6491C>T (p.Ala2164Val)7273TTNUncertain significance1338410239RCV001128774|RCV001135773|RCV001135770|RCV001135771|RCV001135772; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MON21796401001796401002:g.179640100G>A-
NM_001267550.2(TTN):c.6359G>T (p.Arg2120Leu)7273TTNConflicting interpretations of pathogenicity141142920RCV000185179|RCV000872240|RCV001128775|RCV001128776|RCV001128777|RCV001128778|RCV001128779|RCV001528299|RCV002362972; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21796402321796402322:g.179640232C>AClinGen:CA311424CN169374 not specified;
NM_001267550.2(TTN):c.6322G>A (p.Glu2108Lys)7273TTNConflicting interpretations of pathogenicity762999586RCV001134410|RCV001134412|RCV001134408|RCV001134411|RCV001134409|RCV003142069; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21796402691796402692:g.179640269C>T-
NM_001267550.2(TTN):c.6303C>T (p.Val2101=)7273TTNBenign/Likely benign937168906RCV000931658|RCV001470659|RCV001840774|RCV001840775|RCV001840776|RCV001840777; NMedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21796402881796402882:g.179640288G>A-
NM_001267550.2(TTN):c.6151A>G (p.Lys2051Glu)7273TTNUncertain significance1393006247RCV001134414|RCV001134413|RCV001134415|RCV001135881|RCV001135882; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21796404401796404402:g.179640440T>C-
NM_001267550.2(TTN):c.5851G>A (p.Val1951Ile)7273TTNUncertain significance765382880RCV000185175|RCV001128875|RCV001128876|RCV001128877|RCV001128878|RCV001135888; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858721796407401796407402:g.179640740C>TClinGen:CA311404CN169374 not specified;
NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys)7273TTNConflicting interpretations of pathogenicity146496197RCV000040480|RCV000172727|RCV000264307|RCV000299606|RCV000298490|RCV000358988|RCV000393329|RCV000852934|RCV001083255|RCV001798172|RCV002345308; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C183734221796409231796409232:g.179640923G>AClinGen:CA140341C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser)7273TTNConflicting interpretations of pathogenicity141213991RCV000040454|RCV000172728|RCV000329243|RCV000617741|RCV000852935|RCV001086722|RCV001798169|RCV003329159; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MedGen:CN230736|MONDO:MONDO:0005252,MedGen:C0018801; EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,Human Phenotype Ontology:HP:0001725,Human Phenotype Onto21796411121796411122:g.179641112C>AClinGen:CA140248CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.5314A>G (p.Ser1772Gly)7273TTNConflicting interpretations of pathogenicity150725992RCV000040436|RCV000545067|RCV001128998|RCV001128997|RCV001135973|RCV001135975|RCV001135974|RCV001719774|RCV003335072; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,21796412771796412772:g.179641277T>CClinGen:CA140193,UniProtKB:Q8WZ42#VAR_040104C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.5176C>A (p.Leu1726Ile)7273TTNUncertain significance2092262370RCV001131678|RCV001131679|RCV001132697|RCV001131676|RCV001131677; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,O21796414151796414152:g.179641415G>T-
NM_001267550.2(TTN):c.5073A>T (p.Glu1691Asp)7273TTNConflicting interpretations of pathogenicity770902874RCV000273247|RCV000274321|RCV000328235|RCV000334036|RCV000363172|RCV000730583; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,21796415181796415182:g.179641518T>AClinGen:CA2005224CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.5047C>T (p.Arg1683Ter)7273TTNConflicting interpretations of pathogenicity587780490RCV000118769|RCV001053412|RCV002336259|RCV002464117; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:CN230736|MedGen:CN51720221796415441796415442:g.179641544G>AClinGen:CA269792C1838244 600334 Distal myopathy Markesbery-Griggs type;
NM_001267550.2(TTN):c.4998A>T (p.Thr1666=)7273TTNBenign/Likely benign139054950RCV000126019|RCV001465244|RCV001812062|RCV001840000|RCV001840001|RCV001840002|RCV001840003|RCV002336276; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221796415931796415932:g.179641593T>AClinGen:CA291502CN169374 not specified;
NM_001267550.2(TTN):c.4995G>A (p.Gly1665=)7273TTNConflicting interpretations of pathogenicity755324231RCV001129115|RCV001129114|RCV001129116|RCV001129117|RCV001129118|RCV002070504|RCV002339412; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21796415961796415962:g.179641596C>T-
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met)7273TTNBenign/Likely benign73973147RCV000040370|RCV000224879|RCV000242883|RCV000275690|RCV000298585|RCV000311388|RCV000353429|RCV000370741|RCV000769125|RCV001084458; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|M21796419511796419512:g.179641951G>AClinGen:CA283453CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.4668G>A (p.Pro1556=)7273TTNConflicting interpretations of pathogenicity145709534RCV000289346|RCV000290369|RCV000350269|RCV000384922|RCV000391245|RCV000424425|RCV000547699|RCV002338926; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MON21796420221796420222:g.179642022C>TClinGen:CA2005281C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.4645+8G>T7273TTNBenign/Likely benign144456585RCV000176695|RCV000550606|RCV001726021|RCV001840250|RCV001840251|RCV001840252|RCV001840253; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183734221796421391796421392:g.179642139C>AClinGen:CA202072C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.4506C>T (p.Thr1502=)7273TTNUncertain significance185660585RCV001129226|RCV001129227|RCV001129228|RCV001136187|RCV001136188; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21796422861796422862:g.179642286G>A-
NM_001267550.2(TTN):c.4480+6C>T7273TTNBenign719201RCV000040333|RCV000266351|RCV000272158|RCV000303750|RCV000358588|RCV000382980|RCV000993441|RCV001523701; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858721796424251796424252:g.179642425G>AClinGen:CA283407CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.4322G>A (p.Arg1441His)7273TTNConflicting interpretations of pathogenicity72647876RCV000272567|RCV000307752|RCV000330032|RCV000361649|RCV000364736|RCV000643285|RCV001844128; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O21796425891796425892:g.179642589C>TClinGen:CA2005336C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.4319G>T (p.Gly1440Val)7273TTNUncertain significance150579194RCV000275768|RCV000279744|RCV000318457|RCV000333148|RCV000371427; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,21796425921796425922:g.179642592C>AClinGen:CA10612112CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.4292G>A (p.Arg1431Gln)7273TTNConflicting interpretations of pathogenicity373690688RCV001132046|RCV001132042|RCV001132043|RCV001132044|RCV001132045|RCV001697352|RCV002331040|RCV003150298; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21796426191796426192:g.179642619C>TClinGen:CA2005343CN169374 not specified;
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys)7273TTNBenign/Likely benign72647875RCV000040310|RCV000250985|RCV000283246|RCV000286630|RCV000343983|RCV000375318|RCV000406831|RCV000462109|RCV000769133|RCV001572720|RCV002496645; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012121796426651796426652:g.179642665G>AClinGen:CA283365,UniProtKB:Q8WZ42#VAR_040096CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.4076A>G (p.Glu1359Gly)7273TTNConflicting interpretations of pathogenicity370978752RCV000172479|RCV000260058|RCV000263663|RCV000321201|RCV000317593|RCV000378238|RCV000412681|RCV000553812; NMedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,21796437331796437332:g.179643733T>CClinGen:CA302567C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.3993C>T (p.Ile1331=)7273TTNBenign/Likely benign55757622RCV000040284|RCV000228245|RCV000293273|RCV000315323|RCV000350528|RCV000392203|RCV000403817|RCV000619405|RCV000769136|RCV001795024; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orp21796438161796438162:g.179643816G>AClinGen:CA283308CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.3988C>T (p.Arg1330Cys)7273TTNConflicting interpretations of pathogenicity771294359RCV000176503|RCV001198541; NMedGen:CN517202|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:60921796438211796438212:g.179643821G>AClinGen:CA242477CN169374 not specified;
NM_001267550.2(TTN):c.3884C>T (p.Ser1295Leu)7273TTNBenign1552280RCV000040271|RCV000241712|RCV000264528|RCV000268224|RCV000303354|RCV000360628|RCV000357032|RCV000993431|RCV001523702; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C186321796440351796440352:g.179644035G>AClinGen:CA283291,UniProtKB:Q8WZ42#VAR_040090CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.3759A>G (p.Arg1253=)7273TTNBenign2291308RCV000040255|RCV000251064|RCV000272485|RCV000294657|RCV000325762|RCV000329924|RCV000382666|RCV001515293; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C186359921796441601796441602:g.179644160T>CClinGen:CA283269CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.3668C>T (p.Ala1223Val)7273TTNBenign/Likely benign78269740RCV000040248|RCV000253337|RCV000279208|RCV000301989|RCV000336642|RCV000371507|RCV000391746|RCV000468115|RCV000770152|RCV002227053; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C185821796447881796447882:g.179644788G>AClinGen:CA283251CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.3605T>C (p.Val1202Ala)7273TTNConflicting interpretations of pathogenicity150667217RCV000152511|RCV000172730|RCV000476516|RCV001133206|RCV001133208|RCV001133210|RCV001133207|RCV001133209|RCV001798487|RCV002460048; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C185876321796448511796448512:g.179644851A>GClinGen:CA179349,UniProtKB:Q8WZ42#VAR_040089C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.3380+12G>T7273TTNConflicting interpretations of pathogenicity775071824RCV000281240|RCV000289971|RCV000319950|RCV000373414|RCV000376968|RCV001850794; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MON21796469271796469272:g.179646927C>AClinGen:CA10612114CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.3242C>T (p.Ala1081Val)7273TTNConflicting interpretations of pathogenicity528216574RCV000286362|RCV000341244|RCV000356189|RCV000406964|RCV000406971|RCV003137958; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MON21796470771796470772:g.179647077G>AClinGen:CA2005593CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr)7273TTNConflicting interpretations of pathogenicity55914517RCV000040201|RCV000172732|RCV000253970|RCV001085560|RCV001129772|RCV001132484|RCV001132481|RCV001132483|RCV001132482|RCV001170662; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:001271421796470781796470782:g.179647078C>TClinGen:CA139551,UniProtKB:Q8WZ42#VAR_040086CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.3197A>T (p.Asp1066Val)7273TTNUncertain significance886055305RCV000297992|RCV000331834|RCV000367793|RCV000371134|RCV000406515|RCV002487476; NMONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,O21796471221796471222:g.179647122T>AClinGen:CA10611717CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.2775+1G>T7273TTNConflicting interpretations of pathogenicity1057346353RCV001787308|RCV001799128|RCV002541257; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:602179648796179648796179648796-
NM_001267550.2(TTN):c.2522C>A (p.Thr841Lys)7273TTNUncertain significance750195208RCV001129976|RCV001129975|RCV001135015|RCV001135016|RCV001135017|RCV002482253; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MON21796490501796490502:g.179649050G>T-
NM_001267550.2(TTN):c.2494-5T>C7273TTNConflicting interpretations of pathogenicity370759512RCV000542966|RCV000730921|RCV001130682|RCV001130683|RCV001130685|RCV001129982|RCV001130684; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,2179649083179649083NC_000002.11:g.179649083A>GClinGen:CA2005798C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.2432C>T (p.Thr811Ile)7273TTNBenign/Likely benign35813871RCV000040075|RCV000250179|RCV000277774|RCV000293180|RCV000333096|RCV000372528|RCV000387563|RCV001511071; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C186359921796504081796504082:g.179650408G>AClinGen:CA283019,UniProtKB:Q8WZ42#VAR_040083CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.2370+9A>G7273TTNConflicting interpretations of pathogenicity373443384RCV000301265|RCV000314577|RCV000354328|RCV000369290|RCV000405227|RCV001462549; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orph21796505661796505662:g.179650566T>CClinGen:CA2005845CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.2300G>A (p.Arg767Lys)7273TTNUncertain significance-1RCV003388235; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:6092179650645179650645-
NM_001267550.2(TTN):c.2280C>T (p.Val760=)7273TTNBenign/Likely benign727505021RCV000156445|RCV000473743|RCV000617670|RCV001840187|RCV001840189|RCV001840188|RCV001840190; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C186359921796506651796506652:g.179650665G>AClinGen:CA295831CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.2244G>A (p.Glu748=)7273TTNBenign6715406RCV000040044|RCV000243970|RCV000283289|RCV000286612|RCV000338218|RCV000377759|RCV000400193|RCV000993400|RCV001509737; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012721796507011796507012:g.179650701C>TClinGen:CA282965CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.2226C>A (p.Ser742=)7273TTNBenign/Likely benign151025677RCV000464357|RCV001510342|RCV001840551|RCV001840548|RCV001840550|RCV001840549|RCV002418299; NMedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,21796507191796507192:g.179650719G>TClinGen:CA2005872C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.2151C>T (p.Pro717=)7273TTNBenign/Likely benign374570732RCV000040025|RCV000473740|RCV001839555|RCV001839557|RCV001839556|RCV001839558|RCV002415480|RCV003149642; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21796507941796507942:g.179650794G>AClinGen:CA282927C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.2138G>A (p.Arg713Gln)7273TTNUncertain significance761383124RCV000279844|RCV000334869|RCV000368679|RCV000407830|RCV000407832|RCV000621293|RCV003137959; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MON21796508071796508072:g.179650807C>TClinGen:CA2005889CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.1696A>G (p.Met566Val)7273TTNUncertain significance987302368RCV001130960|RCV001130959|RCV001130958|RCV001133907|RCV001133908; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,O21796555391796555392:g.179655539T>C-
NM_001267550.2(TTN):c.1683A>G (p.Ile561Met)7273TTNUncertain significance1321890564RCV001133914|RCV001135418|RCV001135419|RCV001135420|RCV001135421; NMONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21796555521796555522:g.179655552T>C-
NM_001267550.2(TTN):c.1447G>A (p.Ala483Thr)7273TTNConflicting interpretations of pathogenicity34337578RCV000180698|RCV000300935|RCV000340586|RCV000353413|RCV000401699|RCV000406894|RCV000550205|RCV002390446; NMedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orp21796582201796582202:g.179658220C>TClinGen:CA248252C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.1446C>T (p.Ala482=)7273TTNConflicting interpretations of pathogenicity183258737RCV001134043|RCV001134039|RCV001134040|RCV001134041|RCV001134042|RCV002070567|RCV001585998; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21796582211796582212:g.179658221G>A-
NM_001267550.2(TTN):c.1398+18A>G7273TTNBenign72647849RCV000125777|RCV001529535|RCV001839952|RCV001839953|RCV001839955|RCV002055605|RCV001839954; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C185821796591081796591082:g.179659108T>CClinGen:CA291447CN169374 not specified;
NM_001267550.2(TTN):c.1398+16C>T7273TTNBenign144043280RCV000125776|RCV001528473|RCV001839950|RCV001839951|RCV001839948|RCV002055604|RCV001839949; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011421796591101796591102:g.179659110G>AClinGen:CA291446CN169374 not specified;
NM_001267550.2(TTN):c.1398+9G>A7273TTNConflicting interpretations of pathogenicity368350210RCV000274930|RCV000276283|RCV000315059|RCV000327668|RCV000367407|RCV000642977|RCV000610278; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21796591171796591172:g.179659117C>TClinGen:CA2006069C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.1398+4C>T7273TTNConflicting interpretations of pathogenicity368548209RCV000152529|RCV000279380|RCV000280402|RCV000337828|RCV000400060|RCV000408421|RCV000725255|RCV002390332|RCV003149933; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858721796591221796591222:g.179659122G>AClinGen:CA179423CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.1365G>A (p.Thr455=)7273TTNConflicting interpretations of pathogenicity145211131RCV000039898|RCV000270976|RCV000311791|RCV000363227|RCV000368852|RCV000408385|RCV000867716|RCV002381319; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858721796591591796591592:g.179659159C>TClinGen:CA138805CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.1301A>T (p.Asp434Val)7273TTNUncertain significance1478114976RCV001131200|RCV001131201|RCV001134160|RCV001134162|RCV001134161; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MON21796592231796592232:g.179659223T>A-
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile)7273TTNConflicting interpretations of pathogenicity146000949RCV000118737|RCV000227944|RCV000229796|RCV001134163|RCV001134164|RCV001134165|RCV001134166|RCV001134167|RCV002381429; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C186359921796592271796592272:g.179659227C>TClinGen:CA289082C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.1246-16G>A7273TTNBenign72647847RCV000125774|RCV001529224|RCV001839945|RCV001839947|RCV001839944|RCV002055603|RCV001839946; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C183721796592941796592942:g.179659294C>TClinGen:CA291445CN169374 not specified;
NM_001267550.2(TTN):c.1066G>C (p.Glu356Gln)7273TTNConflicting interpretations of pathogenicity144531477RCV000184463|RCV000215227|RCV000307624|RCV000301950|RCV000347083|RCV000400273|RCV000392883|RCV000553458|RCV002408817; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0012121796598281796598282:g.179659828C>GClinGen:CA309658C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.1002C>T (p.Thr334=)7273TTNConflicting interpretations of pathogenicity148094198RCV000152534|RCV000287830|RCV000332417|RCV000347502|RCV000382294|RCV000389385|RCV000713945|RCV001083824|RCV002390334; NMedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21796598921796598922:g.179659892G>AClinGen:CA346116C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.982C>T (p.Arg328Cys)7273TTNBenign/Likely benign16866538RCV000040972|RCV000241960|RCV000304117|RCV000335694|RCV000339148|RCV000383281|RCV000398548|RCV000993518|RCV001510253; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012121796599121796599122:g.179659912G>AClinGen:CA284363,UniProtKB:Q8WZ42#VAR_026686CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.864C>T (p.His288=)7273TTNConflicting interpretations of pathogenicity772543040RCV000827440|RCV001128782|RCV001408199|RCV001128783|RCV001128784|RCV001131433|RCV001131434|RCV003307570; NMedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orp21796642641796642642:g.179664264G>A-
NM_001267550.2(TTN):c.851C>T (p.Ser284Leu)7273TTNUncertain significance775566677RCV000270839|RCV000272065|RCV000325860|RCV000322526|RCV000377182|RCV000598196; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,O21796642771796642772:g.179664277G>AClinGen:CA2006214CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.732C>T (p.Ala244=)7273TTNConflicting interpretations of pathogenicity761859812RCV000295315|RCV000725564|RCV001134420|RCV001134422|RCV001135889|RCV001506599|RCV001134419|RCV001134421|RCV002379130; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011421796643961796643962:g.179664396G>AClinGen:CA2006233CN169374 not specified;
NM_001267550.2(TTN):c.583+4C>T7273TTNConflicting interpretations of pathogenicity764670848RCV000268668|RCV000313425|RCV000313077|RCV000363475|RCV000408298|RCV000643901|RCV000828353|RCV002356455; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MON2179665118179665118NC_000002.11:g.179665118G>AClinGen:CA2006298C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.426C>T (p.Ala142=)7273TTNBenign/Likely benign56137037RCV000040314|RCV000234634|RCV000244934|RCV000282036|RCV000318413|RCV000317186|RCV000371811|RCV000386983|RCV000769146|RCV001528435; NMedGen:CN169374|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922; MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C186359921796652791796652792:g.179665279G>AClinGen:CA283372CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.416G>A (p.Arg139Gln)7273TTNConflicting interpretations of pathogenicity780003580RCV000185333|RCV001140708|RCV001140711|RCV001140709|RCV001140710|RCV001140712|RCV003137754|RCV003407680; NMedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21796652891796652892:g.179665289C>TClinGen:CA311799CN169374 not specified;
NM_001267550.2(TTN):c.289G>A (p.Val97Met)7273TTNBenign/Likely benign185921345RCV000155019|RCV000529339|RCV001840159|RCV001840160|RCV001840161|RCV001840162|RCV002433680; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21796668711796668712:g.179666871C>TClinGen:CA182016C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.266C>G (p.Ala89Gly)7273TTNConflicting interpretations of pathogenicity200165636RCV000172495|RCV000578038|RCV000524658|RCV000577960|RCV000578069|RCV001142582|RCV001142583|RCV001281537|RCV002433758; NMedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orp21796668941796668942:g.179666894G>CClinGen:CA302585C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr)7273TTNBenign/Likely benign35683768RCV000039957|RCV000251100|RCV000259249|RCV000304063|RCV000319076|RCV000357917|RCV000391474|RCV000476175|RCV000993394; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C183734221796669821796669822:g.179666982C>AClinGen:CA282808,UniProtKB:Q8WZ42#VAR_040078CN230736 Cardiovascular phenotype;
NM_001267550.2(TTN):c.72C>G (p.Thr24=)7273TTNConflicting interpretations of pathogenicity876657615RCV000223372|RCV000329742|RCV000355465|RCV000295394|RCV000326959|RCV000388983|RCV001413880|RCV002381738; NMedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orp21796692981796692982:g.179669298G>CClinGen:CA10576584C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.43G>A (p.Val15Ile)7273TTNConflicting interpretations of pathogenicity201857541RCV000172733|RCV000218176|RCV000469634|RCV001140836|RCV001142683|RCV001142681|RCV001142682|RCV001140835|RCV001170882|RCV002326949; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0012714,MedGen:C267367721796693271796693272:g.179669327C>TClinGen:CA238531C1858763 604145 Dilated cardiomyopathy 1G;
NM_001267550.2(TTN):c.-76A>G7273TTNUncertain significance1575064539RCV001137941|RCV001137942|RCV001137940|RCV001138357|RCV001138358; NMONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MON21796720011796720012:g.179672001T>C-
NM_001267550.2(TTN):c.-108G>A7273TTNBenign/Likely benign13422986RCV000268736|RCV000274292|RCV000334116|RCV000363387|RCV000382994|RCV001672567; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MON21796720331796720332:g.179672033C>TClinGen:CA10611723CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.-118G>A7273TTNUncertain significance886055310RCV000265368|RCV000320503|RCV000335777|RCV000371730|RCV000379689; NMONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464,Orp21796720431796720432:g.179672043C>TClinGen:CA10613405CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.-217G>A7273TTNUncertain significance886055311RCV000281953|RCV000312761|RCV000337026|RCV000401833|RCV000401395|RCV002487477; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orph21796721421796721422:g.179672142C>TClinGen:CA10611725CN239310 Dilated Cardiomyopathy, Dominant;
NM_001267550.2(TTN):c.-225G>A7273TTNUncertain significance886055312RCV000271559|RCV000306758|RCV000310260|RCV000357842|RCV000363822; NMONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orph21796721501796721502:g.179672150C>TClinGen:CA10611727CN239310 Dilated Cardiomyopathy, Dominant;
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