Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_001267550.2(TTN):c.*1015A>G | 7273 | TTN | Conflicting interpretations of pathogenicity | 72629798 | RCV000304918|RCV000335175|RCV000341090|RCV000374509|RCV000396057; | N | 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, Orphanet:178464,Orp | 2 | 179390724 | 179390724 | | | 2:g.179390724T>C | ClinGen:CA10612987 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.*968T>C | 7273 | TTN | Uncertain significance | 772669140 | RCV000270952|RCV000308628|RCV000314406|RCV000371249|RCV000399533; | N | 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, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179390771 | 179390771 | | | 2:g.179390771A>G | ClinGen:CA10611590 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.*913C>A | 7273 | TTN | Uncertain significance | 886055213 | RCV000285761|RCV000284742|RCV000324368|RCV000346762|RCV000394969|RCV002480180; | N | 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, Orphanet:178464, | 2 | 179390826 | 179390826 | | | 2:g.179390826G>T | ClinGen:CA10612988 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.*664G>T | 7273 | TTN | Benign/Likely benign | 72629796 | RCV000288260|RCV000314803|RCV000367155|RCV000399516|RCV000401470|RCV001618586; | N | 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, Orphanet:154|MON | 2 | 179391075 | 179391075 | | | 2:g.179391075C>A | ClinGen:CA10613195 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.*636T>G | 7273 | TTN | Uncertain significance | 886055214 | RCV000268052|RCV000299276|RCV000317295|RCV000356405|RCV000360350; | N | 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, Orphanet:178464,Orp | 2 | 179391103 | 179391103 | | | 2:g.179391103A>C | ClinGen:CA10612989 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.*633C>T | 7273 | TTN | Uncertain significance | 1242028803 | RCV001131137|RCV001130414|RCV001131136|RCV001131138|RCV001131139; | N | 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,OMIM:611705,Orph | 2 | 179391106 | 179391106 | | | 2:g.179391106G>A | - | | |
NM_001267550.2(TTN):c.*587T>A | 7273 | TTN | Conflicting interpretations of pathogenicity | 114788736 | RCV000297685|RCV000337437|RCV000352395|RCV000394247|RCV000402321|RCV001836806; | N | 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, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179391152 | 179391152 | | | 2:g.179391152A>T | ClinGen:CA10613196 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.*504G>A | 7273 | TTN | Uncertain significance | 957184446 | RCV001134094|RCV001134093|RCV001135601|RCV001135599|RCV001135600; | N | 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:C2673677,OMIM:611705,O | 2 | 179391235 | 179391235 | | | 2:g.179391235C>T | - | | |
NM_001267550.2(TTN):c.*280A>G | 7273 | TTN | Conflicting interpretations of pathogenicity | 549242855 | RCV000265278|RCV000305997|RCV000308695|RCV000354877|RCV000358469; | N | 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:C1858763,OMIM:604145,O | 2 | 179391459 | 179391459 | | | 2:g.179391459T>C | ClinGen:CA10611997 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.*274G>A | 7273 | TTN | Uncertain significance | 886055215 | RCV000277942|RCV000326111|RCV000330724|RCV000365665|RCV000388713; | N | 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, Orphanet:178464, | 2 | 179391465 | 179391465 | | | 2:g.179391465C>T | ClinGen:CA10613200 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.*197C>G | 7273 | TTN | Uncertain significance | 886055216 | RCV000281265|RCV000338693|RCV000341964|RCV000372388|RCV000387575; | N | 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, Orphanet:178464, | 2 | 179391542 | 179391542 | | | 2:g.179391542G>C | ClinGen:CA10613202 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.*183A>G | 7273 | TTN | Uncertain significance | 534998626 | RCV001131253|RCV001131252|RCV001131254|RCV001131250|RCV001131251; | N | 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, Orphanet:154|MON | 2 | 179391556 | 179391556 | | | 2:g.179391556T>C | - | | |
NM_001267550.2(TTN):c.*141T>G | 7273 | TTN | Uncertain significance | 781617834 | RCV001131255|RCV001134219|RCV001134218|RCV001134220|RCV001134217|RCV002497543; | N | 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,OMIM:608807,Orph | 2 | 179391598 | 179391598 | | | 2:g.179391598A>C | - | | |
NM_001267550.2(TTN):c.*130G>C | 7273 | TTN | Benign/Likely benign | 144026962 | RCV000302123|RCV000310465|RCV000340708|RCV000362934|RCV000398492; | N | 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:C1863599,OMIM:603689, Orphanet:178464,Orp | 2 | 179391609 | 179391609 | | | 2:g.179391609C>G | ClinGen:CA10611999 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.*59G>A | 7273 | TTN | Conflicting interpretations of pathogenicity | 72629795 | RCV000259324|RCV000286734|RCV000316779|RCV000339369|RCV000378394; | N | 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, Orphanet:178464,Orp | 2 | 179391680 | 179391680 | | | 2:g.179391680C>T | ClinGen:CA10612995 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.*25C>T | 7273 | TTN | Conflicting interpretations of pathogenicity | 370597649 | RCV000290362|RCV000307898|RCV000351030|RCV000347387|RCV000395233; | N | 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, Orphanet:178464, | 2 | 179391714 | 179391714 | | | 2:g.179391714G>A | ClinGen:CA1984847 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.*6C>A | 7273 | TTN | Conflicting interpretations of pathogenicity | 188728343 | RCV000261191|RCV000301130|RCV000311618|RCV000353633|RCV000399616|RCV000435138|RCV001726128; | N | 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:C1863599,OMIM:603689, Orphanet:178464,Orp | 2 | 179391733 | 179391733 | | | 2:g.179391733G>T | ClinGen:CA1984851 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.107892_107897del (p.Gln35964_Gly35966delinsHis) | 7273 | TTN | Pathogenic | 281864933 | RCV000031997; | N | MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609 | 2 | 179391818 | 179391823 | | | 2:g.179391818_179391823del | ClinGen:CA343096 | C1838244 600334 Distal myopathy Markesbery-Griggs type; | |
NM_001267550.2(TTN):c.107890C>T (p.Gln35964Ter) | 7273 | TTN | Uncertain significance | 281864929 | RCV000031996|RCV003234934; | N | MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MedGen:CN169374 | 2 | 179391825 | 179391825 | | | 2:g.179391825G>A | ClinGen:CA343092 | C1838244 600334 Distal myopathy Markesbery-Griggs type; | |
NM_001267550.2(TTN):c.107889del (p.Lys35963fs) | 7273 | TTN | Pathogenic | 281864930 | RCV000031995|RCV000184369|RCV000844994|RCV001004988|RCV001216397|RCV002415440|RCV002496487|RCV003234933|RCV003328160; | N | MONDO: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:C18587 | 2 | 179391826 | 179391826 | | | NC_000002.11:g.179391828del | ClinGen:CA309464 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro) | 7273 | TTN | Likely pathogenic | 267607156 | RCV000013489|RCV001378935|RCV001781256; | N | 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|MedGen:CN517202 | 2 | 179391848 | 179391848 | | | 2:g.179391848A>G | ClinGen:CA341209,OMIM:188840.0005 | C1838244 600334 Distal myopathy Markesbery-Griggs type; | |
NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn) | 7273 | TTN | Pathogenic/Likely pathogenic | 281864928 | RCV000013490|RCV001319595; | N | 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 | 2 | 179391875 | 179391875 | | | 2:g.179391875A>T | ClinGen:CA341213,OMIM:188840.0006 | C1838244 600334 Distal myopathy Markesbery-Griggs type; | |
NM_001267550.2(TTN):c.107840T>C (p.Ile35947Thr) | 7273 | TTN | Uncertain significance | 281864928 | RCV000049799|RCV001061853|RCV003137590; | N | 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|MedGen:CN517202 | 2 | 179391875 | 179391875 | | | 2:g.179391875A>G | ClinGen:CA263860 | C1838244 600334 Distal myopathy Markesbery-Griggs type; | |
NM_001267550.2(TTN):c.107837A>C (p.His35946Pro) | 7273 | TTN | not provided | 281864931 | RCV000031994; | N | MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609 | 2 | 179391878 | 179391878 | | | 2:g.179391878T>G | ClinGen:CA343088 | C1838244 600334 Distal myopathy Markesbery-Griggs type; | |
NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys) | 7273 | TTN | Pathogenic | 281864927 | RCV000013487|RCV000013488|RCV000406890|RCV000700718|RCV002496344; | N | MONDO: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,Orp | 2 | 179391925 | 179391935 | | | NC_000002.11:g.179391925_179391935delinsTTTTTCTTTCA | ClinGen:CA122613,OMIM:188840.0004 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.107766T>C (p.Gly35922=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 147293964 | RCV000039844|RCV000245995|RCV000464935|RCV001131348|RCV001131347|RCV001131346|RCV001134349|RCV001134350|RCV001528464; | N | MedGen: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:C1863599 | 2 | 179391949 | 179391949 | | | 2:g.179391949A>G | ClinGen:CA138647 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.107681-46T>A | 7273 | TTN | Benign | 16866373 | RCV000251463|RCV001711738|RCV001840439|RCV001840436|RCV001840437|RCV001840438; | N | MedGen: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:C1863 | 2 | 179392080 | 179392080 | | | 2:g.179392080A>T | ClinGen:CA1984904 | CN169374 not specified; | |
NM_001267550.2(TTN):c.107647del (p.Ser35883fs) | 7273 | TTN | Pathogenic | 281864932 | RCV000031998; | N | MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609 | 2 | 179392206 | 179392206 | | | 2:g.179392206_179392206del | ClinGen:CA343100 | C1838244 600334 Distal myopathy Markesbery-Griggs type; | |
NM_001267550.2(TTN):c.107377+14C>T | 7273 | TTN | Conflicting interpretations of pathogenicity | 367908657 | RCV000154867|RCV000305717|RCV000335428|RCV000359693|RCV000394286|RCV000400621|RCV001812132|RCV002056064; | N | MedGen: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:C26736 | 2 | 179392987 | 179392987 | | | 2:g.179392987G>A | ClinGen:CA181556 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.107181C>G (p.Gly35727=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 762859509 | RCV001134478|RCV001134480|RCV001134476|RCV001134477|RCV001134479|RCV001531496|RCV002070571; | N | 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, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179393297 | 179393297 | | | 2:g.179393297G>C | - | | |
NM_001267550.2(TTN):c.106996C>G (p.Gln35666Glu) | 7273 | TTN | Uncertain significance | 750660824 | RCV000278220|RCV000295910|RCV000332133|RCV000337847|RCV000372746|RCV003137933; | N | 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, Orphanet:178464, | 2 | 179393482 | 179393482 | | | 2:g.179393482G>C | ClinGen:CA1985014 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.106926C>T (p.Gly35642=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 761965591 | RCV000304393|RCV000345257|RCV000339047|RCV000396160|RCV000396167|RCV001405894|RCV002411225; | N | 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:C1858763,OMIM:604145,O | 2 | 179393552 | 179393552 | | | 2:g.179393552G>A | ClinGen:CA1985024 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.106876T>G (p.Leu35626Val) | 7273 | TTN | Conflicting interpretations of pathogenicity | 373152640 | RCV000154868|RCV001136023|RCV001136025|RCV001136024|RCV001136021|RCV001136022|RCV002415661; | N | 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,MedGen:C2673677, | 2 | 179393602 | 179393602 | | | 2:g.179393602A>C | ClinGen:CA181557 | CN169374 not specified; | |
NM_001267550.2(TTN):c.106820C>T (p.Ala35607Val) | 7273 | TTN | Conflicting interpretations of pathogenicity | 377337528 | RCV000155820|RCV000260975|RCV000262328|RCV000322180|RCV000316313|RCV000375521|RCV000542437|RCV000726570|RCV002415668|RCV003149949; | N | MedGen: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, | 2 | 179393658 | 179393658 | | | 2:g.179393658G>A | ClinGen:CA183576 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln) | 7273 | TTN | Conflicting interpretations of pathogenicity | 199632397 | RCV000172600|RCV000222652|RCV000246902|RCV000266285|RCV000266936|RCV000301237|RCV000321269|RCV000380571|RCV000469383|RCV000622328|RCV000769843|RCV001563645|RCV003430722; | N | MedGen: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:0011 | 2 | 179393803 | 179393803 | | | 2:g.179393803C>G | ClinGen:CA302594 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr) | 7273 | TTN | Benign/Likely benign | 55880440 | RCV000040979|RCV000254200|RCV000278314|RCV000302770|RCV000337941|RCV000394709|RCV000394727|RCV000474247|RCV001528452|RCV001798215; | N | MedGen: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:C1837342 | 2 | 179393859 | 179393859 | | | 2:g.179393859A>G | ClinGen:CA284392 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val) | 7273 | TTN | Conflicting interpretations of pathogenicity | 55725279 | RCV000040978|RCV000172601|RCV000269028|RCV000328741|RCV000363681|RCV000357546|RCV000400183|RCV000621595|RCV001082037; | N | MedGen: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, | 2 | 179393898 | 179393898 | | | 2:g.179393898T>A | ClinGen:CA141752 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.106578T>A (p.Ser35526=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 55838839 | RCV000040977|RCV000275025|RCV000295013|RCV000317386|RCV000330150|RCV000364730|RCV000462969|RCV000621207|RCV001091785; | N | 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:C1863599,OMIM:603689,Orp | 2 | 179393900 | 179393900 | | | | ClinGen:CA284387 | | |
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=) | 7273 | TTN | Benign/Likely benign | 6725673 | RCV000040975|RCV000248168|RCV000284294|RCV000282234|RCV000337288|RCV000371991|RCV000405721|RCV000769845|RCV001080367|RCV001529837|RCV002477127; | N | MedGen: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:C1858 | 2 | 179394742 | 179394742 | | | | ClinGen:CA284375 | | |
NM_001267550.2(TTN):c.106343G>A (p.Arg35448Gln) | 7273 | TTN | Conflicting interpretations of pathogenicity | 369703073 | RCV000172148|RCV001132849|RCV001132848|RCV001132850|RCV001347072|RCV001132847|RCV001136253; | N | 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:C1858763,OMIM:604145,Orp | 2 | 179394999 | 179394999 | | | 2:g.179394999C>T | ClinGen:CA302375 | CN517202 not provided; | |
NM_001267550.2(TTN):c.106275G>C (p.Gly35425=) | 7273 | TTN | Benign/Likely benign | 56207956 | RCV000040973|RCV000245914|RCV000261378|RCV000318880|RCV000331990|RCV000370354|RCV000375781|RCV001511070; | N | MedGen: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:C2673677 | 2 | 179395067 | 179395067 | | | 2:g.179395067C>G | ClinGen:CA284370 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.106267G>T (p.Val35423Phe) | 7273 | TTN | Uncertain significance | 763752622 | RCV000185131|RCV001129284|RCV001129280|RCV001129282|RCV001129281|RCV001129283|RCV003137749; | N | MedGen: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, | 2 | 179395075 | 179395075 | | | 2:g.179395075C>A | ClinGen:CA311255 | CN169374 not specified; | |
NM_001267550.2(TTN):c.106066G>A (p.Glu35356Lys) | 7273 | TTN | Uncertain significance | 886055218 | RCV000264863|RCV000287403|RCV000322508|RCV000379489|RCV000382460|RCV001349624|RCV003137935; | N | 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:0011400,MedGen:C1858763,OMIM:604145,O | 2 | 179395276 | 179395276 | | | 2:g.179395276C>T | ClinGen:CA10611592 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.106020T>C (p.Gly35340=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 148865574 | RCV000290412|RCV000313097|RCV000347759|RCV000396464|RCV000396451|RCV000533314|RCV001558153; | N | 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, Orphanet:289377|MON | 2 | 179395322 | 179395322 | | | 2:g.179395322A>G | ClinGen:CA1985178 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.105897G>C (p.Glu35299Asp) | 7273 | TTN | Uncertain significance | 886055219 | RCV000261720|RCV000265122|RCV000297754|RCV000300611|RCV000357728|RCV002521342; | N | 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,OMIM:608807,Orph | 2 | 179395445 | 179395445 | | | 2:g.179395445C>G | ClinGen:CA10612002 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.105787G>T (p.Ala35263Ser) | 7273 | TTN | Benign/Likely benign | 67254537 | RCV000040970|RCV000247062|RCV001129385|RCV001136378|RCV001136379|RCV001136380|RCV001136381|RCV001529815; | N | MedGen: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:C1863599 | 2 | 179395555 | 179395555 | | | 2:g.179395555C>A | ClinGen:CA284353 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.105782C>T (p.Pro35261Leu) | 7273 | TTN | Benign/Likely benign | 16866380 | RCV000040969|RCV000253484|RCV000268812|RCV000291248|RCV000322622|RCV000326481|RCV000383347|RCV000466889; | N | MedGen: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:00127 | 2 | 179395560 | 179395560 | | | 2:g.179395560G>A | ClinGen:CA284348 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.105772C>A (p.Pro35258Thr) | 7273 | TTN | Uncertain significance | 886055220 | RCV000294939|RCV000299805|RCV000348558|RCV000352266|RCV000394602; | N | 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,OMIM:611705,Orph | 2 | 179395570 | 179395570 | | | 2:g.179395570G>T | ClinGen:CA10612997 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.105757G>A (p.Val35253Met) | 7273 | TTN | Conflicting interpretations of pathogenicity | 373655492 | RCV000267874|RCV000266472|RCV000303178|RCV000306527|RCV000338409|RCV000360232|RCV000642963|RCV002411161; | N | MONDO: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,Orp | 2 | 179395585 | 179395585 | | | 2:g.179395585C>T | ClinGen:CA1985216 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.105653T>C (p.Ile35218Thr) | 7273 | TTN | Conflicting interpretations of pathogenicity | 143499441 | RCV000374683|RCV000316931|RCV000282589|RCV000339796|RCV000388832|RCV000842725|RCV001087206; | N | 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,OMIM:608807,Orph | 2 | 179395689 | 179395689 | | | 2:g.179395689A>G | ClinGen:CA1985224 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.105582C>T (p.Ser35194=) | 7273 | TTN | Benign | 3829749 | RCV000040963|RCV000245083|RCV000308559|RCV000343449|RCV000365019|RCV000398203|RCV000406215|RCV000458034; | N | MedGen: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:C1863599 | 2 | 179395760 | 179395760 | | | | ClinGen:CA284338 | | |
NM_001267550.2(TTN):c.105545A>G (p.Tyr35182Cys) | 7273 | TTN | Uncertain significance | 878913505 | RCV001132216|RCV001132217|RCV001133142|RCV001133141|RCV001133143|RCV001321453|RCV002411640; | N | 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:C1858763,OMIM:604145,O | 2 | 179395797 | 179395797 | | | 2:g.179395797T>C | - | | |
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met) | 7273 | TTN | Benign/Likely benign | 55865284 | RCV000040962|RCV000205427|RCV000246518|RCV000276660|RCV000311945|RCV000334086|RCV000353762|RCV000398204|RCV000768820|RCV001080769; | N | MedGen: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|MOND | 2 | 179395813 | 179395813 | | | 2:g.179395813C>T | ClinGen:CA284333 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.105512C>T (p.Thr35171Ile) | 7273 | TTN | Conflicting interpretations of pathogenicity | 774524898 | RCV000261339|RCV000319264|RCV000322851|RCV000379527|RCV000376209|RCV000643648|RCV001704941|RCV002408823; | N | 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, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179395830 | 179395830 | | | 2:g.179395830G>A | ClinGen:CA311235 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.105416C>T (p.Thr35139Ile) | 7273 | TTN | Conflicting interpretations of pathogenicity | 200782068 | RCV000040959|RCV000172151|RCV001132330|RCV001132332|RCV001132331|RCV001132333|RCV001133260|RCV002483020|RCV002408537; | N | MedGen: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:00114 | 2 | 179395926 | 179395926 | | | 2:g.179395926G>A | ClinGen:CA141726 | CN517202 not provided; | |
NM_001267550.2(TTN):c.105406C>T (p.Arg35136Trp) | 7273 | TTN | Conflicting interpretations of pathogenicity | 372875128 | RCV000273903|RCV000298551|RCV000313614|RCV000355738|RCV000396822|RCV000607925|RCV003137936; | N | 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, Orphanet:289377|MON | 2 | 179395936 | 179395936 | | | 2:g.179395936G>A | ClinGen:CA1985267 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.105383C>T (p.Ala35128Val) | 7273 | TTN | Conflicting interpretations of pathogenicity | 758458467 | RCV000281757|RCV000321782|RCV000372813|RCV000616776|RCV000577947|RCV000578001|RCV003137937; | N | 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|MedGen:CN169374|MONDO:MONDO:0011400,MedGen:C18587 | 2 | 179395959 | 179395959 | | | 2:g.179395959G>A | ClinGen:CA1985269 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.105257T>A (p.Met35086Lys) | 7273 | TTN | Uncertain significance | 886055221 | RCV000268501|RCV000304957|RCV000320193|RCV000359716|RCV000363060; | N | 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, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179396085 | 179396085 | | | 2:g.179396085A>T | ClinGen:CA10613005 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.105212C>G (p.Ser35071Cys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 3813249 | RCV000154641|RCV000868561|RCV001133349|RCV001133350|RCV001133347|RCV001133348|RCV001134817|RCV001697052; | N | 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:C2673677,OMIM:611705,Orp | 2 | 179396130 | 179396130 | | | 2:g.179396130G>C | ClinGen:CA181087 | CN169374 not specified; | |
NM_001267550.2(TTN):c.104988C>T (p.Val34996=) | 7273 | TTN | Benign | 3829748 | RCV000040950|RCV000252004|RCV000285431|RCV000325349|RCV000340379|RCV000379996|RCV000403954|RCV001513089; | N | MedGen: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:C1863599 | 2 | 179396354 | 179396354 | | | | ClinGen:CA284301 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.104979G>A (p.Thr34993=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 775644738 | RCV000865716|RCV001132526|RCV001132524|RCV001133451|RCV001132525|RCV001133450|RCV002409036|RCV003222157; | N | 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, Orphanet:178464,Orp | 2 | 179396363 | 179396363 | | | 2:g.179396363C>T | - | | |
NM_001267550.2(TTN):c.104936G>A (p.Gly34979Asp) | 7273 | TTN | Uncertain significance | 376634193 | RCV000281979|RCV000336747|RCV000370270|RCV000396905|RCV000404588; | N | 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, Orphanet:178464,Orp | 2 | 179396406 | 179396406 | | | 2:g.179396406C>T | ClinGen:CA10611593 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.104890A>T (p.Asn34964Tyr) | 7273 | TTN | Conflicting interpretations of pathogenicity | 779363624 | RCV001134946|RCV001133452|RCV001134944|RCV001134945|RCV001134947; | N | 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, Orphanet:178464, | 2 | 179396452 | 179396452 | | | 2:g.179396452T>A | - | | |
NM_001267550.2(TTN):c.104691G>A (p.Ser34897=) | 7273 | TTN | Benign/Likely benign | 369619711 | RCV000431868|RCV000475926|RCV001840539|RCV001840536|RCV001840537|RCV001840538|RCV002402130|RCV003333971; | N | MedGen: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, | 2 | 179396651 | 179396651 | | | 2:g.179396651C>T | ClinGen:CA1985380 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.104591C>T (p.Pro34864Leu) | 7273 | TTN | Conflicting interpretations of pathogenicity | 72629788 | RCV000281470|RCV000284557|RCV000324787|RCV000375453|RCV000379364|RCV002402053|RCV003137938; | N | 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, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179396751 | 179396751 | | | 2:g.179396751G>A | ClinGen:CA1985394 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.104570T>C (p.Leu34857Pro) | 7273 | TTN | Uncertain significance | 368765896 | RCV001133571|RCV001133572|RCV001133573|RCV001133574|RCV001133570|RCV002480509; | N | 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, Orphanet:289377|MON | 2 | 179396772 | 179396772 | | | 2:g.179396772A>G | - | | |
NM_001267550.2(TTN):c.104564C>A (p.Ser34855Tyr) | 7273 | TTN | Uncertain significance | 886055222 | RCV000266350|RCV000306321|RCV000348091|RCV000361010|RCV000394509|RCV001038472; | N | 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,OMIM:608807,Orph | 2 | 179396778 | 179396778 | | | 2:g.179396778G>T | ClinGen:CA10613205 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.104522G>A (p.Arg34841His) | 7273 | TTN | Conflicting interpretations of pathogenicity | 373709706 | RCV000210543|RCV000518156|RCV001130044|RCV001130042|RCV001135066|RCV001130041|RCV001130043|RCV001571070|RCV002399774; | N | MeSH: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,Me | 2 | 179396820 | 179396820 | | | 2:g.179396820C>T | ClinGen:CA357992 | C0950123 Inborn genetic diseases; | |
NM_001267550.2(TTN):c.104365G>A (p.Glu34789Lys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 190565627 | RCV000040938|RCV000292859|RCV000291584|RCV000344090|RCV000350073|RCV000388022|RCV000474765|RCV000618932|RCV001703917; | N | MedGen: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:C26736 | 2 | 179396977 | 179396977 | | | 2:g.179396977C>T | ClinGen:CA141665 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.104328A>C (p.Pro34776=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 1575245592 | RCV000840702|RCV001133711|RCV001130746|RCV001130747|RCV001133710|RCV001133712|RCV002536124; | N | 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,MedGen:C1837342, | 2 | 179397014 | 179397014 | | | 2:g.179397014T>G | - | | |
NM_001267550.2(TTN):c.104277G>A (p.Lys34759=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 377391143 | RCV000303059|RCV000304445|RCV000342916|RCV000355591|RCV000405003|RCV000726673|RCV001082825|RCV002402054; | N | 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, Orphanet:178464, | 2 | 179397065 | 179397065 | | | 2:g.179397065C>T | ClinGen:CA1985449 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.104205G>A (p.Thr34735=) | 7273 | TTN | Benign/Likely benign | 752424146 | RCV000643490|RCV001559954|RCV001840725|RCV001840726|RCV001840727|RCV001840728|RCV002397238; | N | 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:C1837342,OMIM:608807,Orp | 2 | 179397137 | 179397137 | | | NC_000002.11:g.179397137C>T | ClinGen:CA1985464 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.104092_104103delinsGAAGCTTT (p.Arg34698fs) | 7273 | TTN | Likely pathogenic | 1689596670 | RCV001199244; | N | MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609 | 2 | 179397239 | 179397250 | | | 2:g.179397240_179397250del | - | | |
NM_001267550.2(TTN):c.104072T>C (p.Phe34691Ser) | 7273 | TTN | Uncertain significance | 886055223 | RCV000263195|RCV000275688|RCV000296974|RCV000333146|RCV000354153; | N | 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, Orphanet:178464,Orp | 2 | 179397270 | 179397270 | | | 2:g.179397270A>G | ClinGen:CA10612009 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.104045G>A (p.Arg34682His) | 7273 | TTN | Conflicting interpretations of pathogenicity | 190398670 | RCV001130174|RCV001130175|RCV001130171|RCV001130172|RCV001130173|RCV002556830; | N | 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:C1863599,OMIM:603689, Orphanet:178464,Orp | 2 | 179397297 | 179397297 | | | 2:g.179397297C>T | - | | |
NM_001267550.2(TTN):c.103993C>G (p.Leu34665Val) | 7273 | TTN | Conflicting interpretations of pathogenicity | 370890922 | RCV000274660|RCV000289473|RCV000327506|RCV000380443|RCV000384361|RCV001565339|RCV002402055; | N | 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,OMIM:611705,Orph | 2 | 179397349 | 179397349 | | | 2:g.179397349G>C | ClinGen:CA1985506 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.103992C>G (p.Leu34664=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 375120372 | RCV000283446|RCV000334897|RCV000340772|RCV000404694|RCV000406553|RCV001726129|RCV001700063|RCV002521343|RCV002402056; | N | 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, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179397350 | 179397350 | | | 2:g.179397350G>C | ClinGen:CA1985507 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.103924_103926del (p.Pro34642del) | 7273 | TTN | Uncertain significance | 771366227 | RCV000266422|RCV000284078|RCV000323739|RCV000325914|RCV000363355|RCV000376093|RCV000517109|RCV002223203; | N | 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|MedGen:CN239352|MedGen:CN239310|Human Phenotype O | 2 | 179397416 | 179397418 | | | 2:g.179397416_179397418del | ClinGen:CA1985522 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.103913G>A (p.Arg34638His) | 7273 | TTN | Conflicting interpretations of pathogenicity | 371528685 | RCV000215601|RCV000318098|RCV000278285|RCV000335727|RCV000375123|RCV000404751|RCV001722172; | N | 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:0012127,MedGen:C1837342,OMIM:608807,Orp | 2 | 179397429 | 179397429 | | | 2:g.179397429C>T | ClinGen:CA1985523 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.103524C>T (p.Val34508=) | 7273 | TTN | Benign/Likely benign | 587780985 | RCV000125980|RCV000528109|RCV001839996|RCV001839998|RCV001839997|RCV001839999|RCV002390282; | N | 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:C1863599,OMIM:603689,Orp | 2 | 179397818 | 179397818 | | | | ClinGen:CA291492 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.103430T>C (p.Ile34477Thr) | 7273 | TTN | Conflicting interpretations of pathogenicity | 751914956 | RCV000185092|RCV000462205|RCV000727152|RCV001131014|RCV001131015|RCV001130307|RCV001130309|RCV001130308|RCV002390483; | N | MedGen: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:C1837342 | 2 | 179397912 | 179397912 | | | 2:g.179397912A>G | ClinGen:CA311151 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.103417G>A (p.Val34473Ile) | 7273 | TTN | Conflicting interpretations of pathogenicity | 188917199 | RCV000259069|RCV000294576|RCV000293378|RCV000333239|RCV000385289|RCV000373025|RCV000470580|RCV000723662|RCV002390246; | N | 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:C2673677,OMIM:611705,Orp | 2 | 179397925 | 179397925 | | | 2:g.179397925C>T | ClinGen:CA285790 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.103412G>A (p.Arg34471Gln) | 7273 | TTN | Conflicting interpretations of pathogenicity | 149391616 | RCV000172159|RCV000729500|RCV001084327|RCV001131016|RCV001133963|RCV001133964|RCV001133965|RCV001133966; | N | MedGen: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:C1837342 | 2 | 179397930 | 179397930 | | | 2:g.179397930C>T | ClinGen:CA237623 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.102984C>T (p.Asp34328=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 541125667 | RCV000259921|RCV000298697|RCV000357106|RCV000370182|RCV000404855|RCV000603386|RCV000831397|RCV001429062; | N | 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:C2673677,OMIM:611705,O | 2 | 179398358 | 179398358 | | | NC_000002.11:g.179398358G>A | ClinGen:CA1985672 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val) | 7273 | TTN | Benign/Likely benign | 3731752 | RCV000040924|RCV000247202|RCV000272164|RCV000330694|RCV000329489|RCV000381753|RCV000387601|RCV000476173|RCV001574062; | N | MedGen: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:C1863599 | 2 | 179398509 | 179398509 | | | 2:g.179398509C>A | ClinGen:CA284264 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.102790C>T (p.Leu34264Phe) | 7273 | TTN | Conflicting interpretations of pathogenicity | 773984912 | RCV001134096|RCV001134095|RCV001134097|RCV001134098|RCV001134099|RCV001326846|RCV001170294|RCV001779121; | N | 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,OMIM:611705,Orph | 2 | 179398552 | 179398552 | | | 2:g.179398552G>A | - | | |
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val) | 7273 | TTN | Conflicting interpretations of pathogenicity | 56173891 | RCV000154873|RCV000284033|RCV000289664|RCV000342470|RCV000336674|RCV000376165|RCV000405890|RCV000617769|RCV000723860|RCV001085767|RCV001798491; | N | MedGen: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:217 | 2 | 179398591 | 179398591 | | | 2:g.179398591T>C | ClinGen:CA181573,UniProtKB:Q8WZ42#VAR_040330 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.102705T>C (p.Tyr34235=) | 7273 | TTN | Uncertain significance | 1690297479 | RCV001130523|RCV001135605|RCV001135602|RCV001135603|RCV001135604; | N | 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, Orphanet:609|MON | 2 | 179398637 | 179398637 | | | 2:g.179398637A>G | - | | |
NM_001267550.2(TTN):c.102519C>T (p.Gly34173=) | 7273 | TTN | Benign | 2857265 | RCV000040919|RCV000246942|RCV000276423|RCV000297035|RCV000311745|RCV000371051|RCV000404450|RCV001513091; | N | MedGen: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:C1837342 | 2 | 179398823 | 179398823 | | | | ClinGen:CA284259 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.102287C>A (p.Thr34096Asn) | 7273 | TTN | Conflicting interpretations of pathogenicity | 375002174 | RCV000264386|RCV000272777|RCV000308202|RCV000327987|RCV000362783|RCV000518469; | N | 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:C1858763,OMIM:604145,O | 2 | 179399055 | 179399055 | | | 2:g.179399055G>T | ClinGen:CA1985774 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) | 7273 | TTN | Conflicting interpretations of pathogenicity | 140319117 | RCV000119019|RCV000154875|RCV000509179|RCV000621822|RCV000713953|RCV000852776|RCV001086721|RCV001134222|RCV001134223|RCV001134221|RCV001798505; | N | MONDO: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 Phenoty | 2 | 179399071 | 179399071 | | | 2:g.179399071G>A | ClinGen:CA211232 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.102156G>T (p.Arg34052=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 376894729 | RCV000040915|RCV000306383|RCV000350714|RCV000349889|RCV000403010|RCV000407697|RCV000862227|RCV001535414|RCV002390172; | N | MedGen: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,Orp | 2 | 179399186 | 179399186 | | | 2:g.179399186C>A | ClinGen:CA141589 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.101853A>C (p.Arg33951Ser) | 7273 | TTN | Conflicting interpretations of pathogenicity | 761821275 | RCV001135824|RCV001135826|RCV001135825|RCV001135827|RCV001135828|RCV003142072; | N | 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:C2673677,OMIM:611705,O | 2 | 179399489 | 179399489 | | | 2:g.179399489T>G | - | | |
NM_001267550.2(TTN):c.101803A>G (p.Ile33935Val) | 7273 | TTN | Benign/Likely benign | 56376197 | RCV000040911|RCV000245124|RCV000263390|RCV000318496|RCV000334137|RCV000353675|RCV000387147|RCV000769855|RCV001080366|RCV001529559; | N | MedGen: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, | 2 | 179399539 | 179399539 | | | 2:g.179399539T>C | ClinGen:CA284247 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His) | 7273 | TTN | Conflicting interpretations of pathogenicity | 55886356 | RCV000040910|RCV000233206|RCV000245404|RCV000289503|RCV000341092|RCV000344458|RCV000388677|RCV000393835|RCV000769856|RCV000852779|RCV001085578; | N | MedGen: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:0012127 | 2 | 179399576 | 179399576 | | | 2:g.179399576C>G | ClinGen:CA284242 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.101406C>G (p.Val33802=) | 7273 | TTN | Benign/Likely benign | 55802460 | RCV000040907|RCV000226522|RCV000296950|RCV000305106|RCV000356538|RCV000390557|RCV000404052|RCV000617994|RCV001528393|RCV001798209; | N | MedGen: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, | 2 | 179399936 | 179399936 | | | | ClinGen:CA284232 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.101291C>T (p.Ala33764Val) | 7273 | TTN | Conflicting interpretations of pathogenicity | 773542514 | RCV000269466|RCV000284570|RCV000329031|RCV000378783|RCV000383573|RCV000727776|RCV001798783|RCV002379220; | N | 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:C1837342,OMIM:608807,O | 2 | 179400051 | 179400051 | | | 2:g.179400051G>A | ClinGen:CA1985903 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.101064T>C (p.Asp33688=) | 7273 | TTN | Benign/Likely benign | 368168812 | RCV000040901|RCV000458005|RCV000618742|RCV001081712|RCV001839760|RCV001839761|RCV001839762|RCV001839763; | N | MedGen: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:0012127 | 2 | 179400278 | 179400278 | | | | ClinGen:CA232516 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.100982G>A (p.Arg33661Lys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 201857158 | RCV000172168|RCV000244016|RCV000578003|RCV000577929|RCV000578083|RCV000600352|RCV001078580; | N | 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|MedGen:CN169374|MONDO:MONDO:0011400 | 2 | 179400360 | 179400360 | | | 2:g.179400360C>T | ClinGen:CA237647 | CN230736 Cardiovascular phenotype; | |
NM_133378.4(TTN):c.93062-10T>C | 7273 | TTN | Benign | 202214630 | RCV000082465|RCV000203751|RCV000266177|RCV000302704|RCV000310651|RCV000365488|RCV000406239|RCV001795152|RCV003149768; | N | 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:0011400,MedGen:C1858763,OMIM:604145,Orp | 2 | 179400586 | 179400586 | | | 2:g.179400586A>G | ClinGen:CA285789 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.100766-10dup | 7273 | TTN | Benign/Likely benign | 749872538 | RCV000177496|RCV001706974|RCV001842791|RCV001842792|RCV001842793|RCV001842794; | N | MedGen: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:00127 | 2 | 179400586 | 179400586 | | | NC_000002.11:g.179400600dup | ClinGen:CA202493 | CN169374 not specified; | |
NM_001267550.2(TTN):c.100766-11_100766-10del | 7273 | TTN | Benign/Likely benign | 749872538 | RCV000350670|RCV001840465|RCV001840467|RCV001570029|RCV001840464|RCV001840466; | N | MedGen: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:C1863 | 2 | 179400586 | 179400587 | | | NC_000002.11:g.179400599_179400600del | ClinGen:CA1985987 | CN169374 not specified; | |
NM_001267550.2(TTN):c.100459C>T (p.Pro33487Ser) | 7273 | TTN | Benign/Likely benign | 72629779 | RCV000040897|RCV000228460|RCV000249239|RCV000289321|RCV000295380|RCV000346743|RCV000387386|RCV000381490|RCV001811300; | N | MedGen: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:C1863599 | 2 | 179401015 | 179401015 | | | 2:g.179401015G>A | ClinGen:CA284222 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln) | 7273 | TTN | Conflicting interpretations of pathogenicity | 368321767 | RCV000283303|RCV000305798|RCV000340707|RCV000353303|RCV000392156|RCV000537271|RCV000617715|RCV000713947|RCV000764297|RCV001270047|RCV002282014; | N | 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, Orphanet:178464, | 2 | 179401027 | 179401027 | | | 2:g.179401027C>G | ClinGen:CA311106 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly) | 7273 | TTN | Conflicting interpretations of pathogenicity | 372304158 | RCV000299494|RCV000331220|RCV000356693|RCV000390641|RCV000369666|RCV000524719|RCV000621440|RCV000713946|RCV000764298|RCV001270048|RCV002282013; | N | 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, Orphanet:609|MON | 2 | 179401042 | 179401042 | | | 2:g.179401042A>C | ClinGen:CA311103 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.100315T>C (p.Trp33439Arg) | 7273 | TTN | Conflicting interpretations of pathogenicity | 545443009 | RCV000118796|RCV000279980|RCV000284327|RCV000337342|RCV000407424|RCV000407478; | N | 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:0012127,MedGen:C18373 | 2 | 179401159 | 179401159 | | | 2:g.179401159A>G | ClinGen:CA289110 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr) | 7273 | TTN | Conflicting interpretations of pathogenicity | 201112096 | RCV000172170|RCV000270805|RCV000311753|RCV000315180|RCV000362844|RCV000403284|RCV000517499|RCV001087486|RCV002381562; | N | 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:0012714,MedGen:C2673677, | 2 | 179401248 | 179401248 | | | 2:g.179401248C>T | ClinGen:CA302391 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.100172-17dup | 7273 | TTN | Conflicting interpretations of pathogenicity | 397517782 | RCV000040895|RCV000233669|RCV000264912|RCV000268603|RCV000309583|RCV000322481|RCV000366459|RCV000379379|RCV000768838|RCV001079618; | N | MedGen: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|M | 2 | 179401311 | 179401312 | | | 2:g.179401311_179401312insA | ClinGen:CA284221 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg) | 7273 | TTN | Conflicting interpretations of pathogenicity | 56061641 | RCV000040891|RCV000242557|RCV000487595|RCV000549681|RCV001131862|RCV001131863|RCV001131859|RCV001131860|RCV001131861|RCV001196003; | N | MedGen: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:0011400 | 2 | 179401845 | 179401845 | | | 2:g.179401845A>G | ClinGen:CA141535,UniProtKB:Q8WZ42#VAR_040318 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 775769503 | RCV000273760|RCV000296140|RCV000331164|RCV000344102|RCV000375299|RCV000594505|RCV000621517|RCV003226282; | N | 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:C1858763,OMIM:604145, Orphanet:154|MON | 2 | 179401870 | 179401870 | | | 2:g.179401870C>A | ClinGen:CA1986096 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.99903A>G (p.Glu33301=) | 7273 | TTN | Uncertain significance | 886055227 | RCV000284373|RCV000290342|RCV000341626|RCV000347603|RCV000390923|RCV000382397; | N | 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:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MedGen:CN239352|MONDO:MONDO | 2 | 179401933 | 179401933 | | | 2:g.179401933T>C | ClinGen:CA10613010 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.99900C>T (p.Ile33300=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 747130957 | RCV001136257|RCV001136254|RCV001136255|RCV001136256|RCV001136258|RCV001471963|RCV002382070|RCV003330995; | N | 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:C2673677,OMIM:611705, Orphanet:289377|MON | 2 | 179401936 | 179401936 | | | 2:g.179401936G>A | - | | |
NM_001267550.2(TTN):c.99877_99878delinsGT (p.Lys33293Val) | 7273 | TTN | Uncertain significance | 2154138101 | RCV001797865; | N | MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609 | 2 | 179401958 | 179401959 | | | 179401958 | - | | |
NM_001267550.2(TTN):c.99866-10C>T | 7273 | TTN | Conflicting interpretations of pathogenicity | 773128928 | RCV000184115|RCV000472360|RCV001840278|RCV001840279|RCV001840280|RCV001840281; | N | 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:C1837342,OMIM:608807,Orp | 2 | 179401980 | 179401980 | | | 2:g.179401980G>A | ClinGen:CA308974 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.99415A>G (p.Lys33139Glu) | 7273 | TTN | Uncertain significance | 779723670 | RCV000285084|RCV000309603|RCV000340060|RCV000392740|RCV000404248|RCV001288587; | N | 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:C1858763,OMIM:604145, Orphanet:154|MON | 2 | 179402519 | 179402519 | | | 2:g.179402519T>C | ClinGen:CA1986187 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.99239G>A (p.Gly33080Glu) | 7273 | TTN | Conflicting interpretations of pathogenicity | 762905152 | RCV000283070|RCV000287133|RCV000317378|RCV000323273|RCV000372278; | N | 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:C1858763,OMIM:604145,O | 2 | 179403317 | 179403317 | | | 2:g.179403317C>T | ClinGen:CA1986235 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.99154C>T (p.Arg33052Cys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 758109676 | RCV000260897|RCV000297178|RCV000300928|RCV000349404|RCV000408203; | N | 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, Orphanet:609|MON | 2 | 179403402 | 179403402 | | | 2:g.179403402G>A | ClinGen:CA1986246 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.98989+12A>C | 7273 | TTN | Conflicting interpretations of pathogenicity | 72648275 | RCV000271664|RCV000321818|RCV000326695|RCV000361241|RCV000384878|RCV000610500|RCV002057613; | N | 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:0012714,MedGen:C2673677,OMIM:611705,O | 2 | 179403661 | 179403661 | | | 2:g.179403661T>G | ClinGen:CA1986282 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.98959T>C (p.Ser32987Pro) | 7273 | TTN | Conflicting interpretations of pathogenicity | 758494581 | RCV000185056|RCV000303989|RCV000298988|RCV000335265|RCV000392376|RCV000358712|RCV001704935; | N | 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:C1863599,OMIM:603689,Orp | 2 | 179403703 | 179403703 | | | 2:g.179403703A>G | ClinGen:CA311067 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.98743A>G (p.Ser32915Gly) | 7273 | TTN | Conflicting interpretations of pathogenicity | 760917372 | RCV000276620|RCV000282308|RCV000331733|RCV000373215|RCV000386284|RCV000322337|RCV000540534|RCV001170524; | N | 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,OMIM:608807,Orph | 2 | 179403919 | 179403919 | | | 2:g.179403919T>C | ClinGen:CA1986314 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.98721C>A (p.Leu32907=) | 7273 | TTN | Benign/Likely benign | 375361462 | RCV000040876|RCV000244471|RCV000459877|RCV001530033|RCV001839748|RCV001839750|RCV001839751|RCV001839749; | N | MedGen: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:0011362 | 2 | 179403941 | 179403941 | | | | ClinGen:CA284179 | | |
NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser) | 7273 | TTN | Conflicting interpretations of pathogenicity | 367979582 | RCV000172178|RCV000213432|RCV000278672|RCV000284749|RCV000343230|RCV000339727|RCV000393696|RCV000527211|RCV002362883|RCV003407636; | N | MedGen: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:C1858 | 2 | 179404151 | 179404151 | | | 2:g.179404151G>A | ClinGen:CA237665 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.98617G>A (p.Glu32873Lys) | 7273 | TTN | Uncertain significance | 1575354700 | RCV001132338|RCV001132334|RCV001132335|RCV001132336|RCV001132337; | N | 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, Orphanet:140922|MON | 2 | 179404175 | 179404175 | | | 2:g.179404175C>T | - | | |
NM_001267550.2(TTN):c.98606G>C (p.Arg32869Pro) | 7273 | TTN | Likely pathogenic | 587780495 | RCV000118795; | N | MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609 | 2 | 179404186 | 179404186 | | | NC_000002.11:g.179404186C>G | ClinGen:CA269799 | C1838244 600334 Distal myopathy Markesbery-Griggs type; | |
NM_001267550.2(TTN):c.98439G>A (p.Val32813=) | 7273 | TTN | Benign/Likely benign | 368487246 | RCV000040870|RCV000468803|RCV001084103|RCV001839744|RCV001839745|RCV001839746|RCV001839747|RCV002362661; | N | MedGen: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:C1837342 | 2 | 179404353 | 179404353 | | | | ClinGen:CA232511 | | |
NM_001267550.2(TTN):c.98367G>A (p.Lys32789=) | 7273 | TTN | Benign/Likely benign | 72648274 | RCV000125962|RCV001422378|RCV001839992|RCV001839993|RCV001839994|RCV001839995|RCV002371963; | N | 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:C1837342,OMIM:608807,Orp | 2 | 179404425 | 179404425 | | | | ClinGen:CA291489 | | |
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) | 7273 | TTN | Conflicting interpretations of pathogenicity | 72648273 | RCV000040867|RCV000118794|RCV000248345|RCV000260558|RCV000264048|RCV000322722|RCV000321435|RCV000354955|RCV000361061|RCV000768847|RCV001079943|RCV002222153; | N | MedGen: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|MOND | 2 | 179404498 | 179404498 | | | 2:g.179404498G>C | ClinGen:CA141474 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.98267C>T (p.Thr32756Ile) | 7273 | TTN | Conflicting interpretations of pathogenicity | 199805060 | RCV000154883|RCV000172609|RCV000242078|RCV000269738|RCV000296814|RCV000327104|RCV000349128|RCV000388775|RCV001080422; | N | MedGen: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|MOND | 2 | 179404525 | 179404525 | | | 2:g.179404525G>A | ClinGen:CA181596 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 72648272 | RCV000040865|RCV000172610|RCV000298721|RCV000338814|RCV000341836|RCV000387355|RCV000401107|RCV000620090|RCV000768849|RCV001081784; | N | MedGen: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:C1863599 | 2 | 179404550 | 179404550 | | | 2:g.179404550G>A | ClinGen:CA141465 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.98169A>C (p.Arg32723Ser) | 7273 | TTN | Uncertain significance | 753058072 | RCV000271823|RCV000302333|RCV000310579|RCV000359387|RCV000362412; | N | 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:C1837342,OMIM:608807,O | 2 | 179404623 | 179404623 | | | 2:g.179404623T>G | ClinGen:CA1986418 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.98098+9T>A | 7273 | TTN | Benign | 2288325 | RCV000040863|RCV000281676|RCV000285626|RCV000334765|RCV000342955|RCV000373023|RCV001513441; | N | 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:0011362,MedGen:C1863599,OMIM:603689, | 2 | 179404786 | 179404786 | | | 2:g.179404786A>T | ClinGen:CA284158 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.97900G>A (p.Gly32634Ser) | 7273 | TTN | Uncertain significance | 1693772565 | RCV001197741|RCV002365896; | N | MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MedGen:CN230736 | 2 | 179404993 | 179404993 | | | 2:g.179404993C>T | - | | |
NM_001267550.2(TTN):c.97795+6G>T | 7273 | TTN | Benign | 3731750 | RCV000040859|RCV000260624|RCV000262361|RCV000319856|RCV000353732|RCV000368703|RCV000993516|RCV001513442; | N | MedGen: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,Orp | 2 | 179406003 | 179406003 | | | 2:g.179406003C>A | ClinGen:CA284157 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His) | 7273 | TTN | Conflicting interpretations of pathogenicity | 55704830 | RCV000040857|RCV000154034|RCV000250297|RCV000295583|RCV000313220|RCV000343661|RCV000401798|RCV000407558|RCV000769864|RCV001080383|RCV001281439|RCV002362659; | N | MedGen: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,Orph | 2 | 179406044 | 179406044 | | | 2:g.179406044C>T | ClinGen:CA141443 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro) | 7273 | TTN | Conflicting interpretations of pathogenicity | 55704830 | RCV000040858|RCV000172611|RCV000248871|RCV000282930|RCV000291082|RCV000322814|RCV000379720|RCV000383122|RCV000769863|RCV001086482|RCV001293119; | N | MedGen: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|MOND | 2 | 179406044 | 179406044 | | | 2:g.179406044C>G | ClinGen:CA141448 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.97742G>T (p.Gly32581Val) | 7273 | TTN | Conflicting interpretations of pathogenicity | 397517771 | RCV000040856|RCV000266897|RCV000297925|RCV000324467|RCV000354697|RCV000407527|RCV000726291|RCV001088537|RCV002362658; | N | 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,MedGen:C1837342,OMIM:608807,Orp | 2 | 179406062 | 179406062 | | | 2:g.179406062C>A | ClinGen:CA141439 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.97717C>T (p.Arg32573Cys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 569593251 | RCV000265881|RCV000288333|RCV000328035|RCV000358173|RCV000384949|RCV001547700; | N | 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:0011400,MedGen:C1858763,OMIM:604145,O | 2 | 179406087 | 179406087 | | | 2:g.179406087G>A | ClinGen:CA1986502 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.97643G>A (p.Arg32548His) | 7273 | TTN | Conflicting interpretations of pathogenicity | 55676195 | RCV000281590|RCV000292301|RCV000334395|RCV000349601|RCV000389059|RCV001544655|RCV002374563; | N | 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:C1858763,OMIM:604145, Orphanet:154|MON | 2 | 179406161 | 179406161 | | | 2:g.179406161C>T | ClinGen:CA1986512 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His) | 7273 | TTN | Benign/Likely benign | 3731749 | RCV000040855|RCV000252307|RCV000303017|RCV000304347|RCV000364975|RCV000390995|RCV000402124|RCV000993515|RCV001513443; | N | MedGen: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:00121 | 2 | 179406191 | 179406191 | | | 2:g.179406191C>T | ClinGen:CA284152 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.97592T>A (p.Val32531Glu) | 7273 | TTN | Uncertain significance | 1060500477 | RCV001133576|RCV001133578|RCV001133575|RCV001133577|RCV001133579|RCV001700701; | N | 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:C1837342,OMIM:608807,O | 2 | 179406212 | 179406212 | | | 2:g.179406212A>T | - | | |
NM_001267550.2(TTN):c.97524A>G (p.Ile32508Met) | 7273 | TTN | Conflicting interpretations of pathogenicity | 755848026 | RCV000276321|RCV000306676|RCV000333703|RCV000363734|RCV000385997|RCV000852487|RCV003137941; | N | 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, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179406280 | 179406280 | | | 2:g.179406280T>C | ClinGen:CA1986530 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.97435C>A (p.Arg32479Ser) | 7273 | TTN | Conflicting interpretations of pathogenicity | 200148139 | RCV000267740|RCV000281918|RCV000275218|RCV000318676|RCV000375642|RCV000377474|RCV000642928|RCV001704932; | N | MedGen: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:C18587 | 2 | 179407048 | 179407048 | | | 2:g.179407048G>T | ClinGen:CA311019 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.97388G>A (p.Arg32463Lys) | 7273 | TTN | Uncertain significance | 1257117887 | RCV001133713|RCV001133714|RCV001133715|RCV001133716|RCV001135207; | N | 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, Orphanet:140922|MON | 2 | 179407095 | 179407095 | | | 2:g.179407095C>T | - | | |
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 376810671 | RCV000082458|RCV000251217|RCV000260318|RCV000277832|RCV000308697|RCV000314163|RCV000367775|RCV000769869|RCV000724942|RCV001085154; | N | MedGen: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:00127 | 2 | 179407097 | 179407097 | | | 2:g.179407097G>A | ClinGen:CA223997 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.97331G>C (p.Arg32444Pro) | 7273 | TTN | Conflicting interpretations of pathogenicity | 184922462 | RCV000172182|RCV001087902|RCV001130177|RCV001130178|RCV001135208|RCV001135209|RCV001130176|RCV002362884|RCV003226236; | N | MedGen: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, | 2 | 179407152 | 179407152 | | | NC_000002.11:g.179407152C>G | ClinGen:CA302407 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.97319G>A (p.Arg32440His) | 7273 | TTN | Conflicting interpretations of pathogenicity | 750047570 | RCV000214855|RCV000266268|RCV000374731|RCV000320208|RCV000320900|RCV000380124|RCV003150114; | N | MedGen: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:C18373 | 2 | 179407164 | 179407164 | | | 2:g.179407164C>T | ClinGen:CA1986578 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 373206096 | RCV000040851|RCV000185035|RCV001082096|RCV001130876|RCV001130878|RCV001130877|RCV001130874|RCV001130875|RCV002371849; | N | MedGen: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:C1837342 | 2 | 179407226 | 179407226 | | | 2:g.179407226A>G | ClinGen:CA141421 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.97193-16T>G | 7273 | TTN | Conflicting interpretations of pathogenicity | 371317486 | RCV000423326|RCV001198132|RCV002061567; | N | MedGen: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 | 2 | 179407306 | 179407306 | | | 2:g.179407306A>C | ClinGen:CA1986601 | CN169374 not specified; | |
NM_001267550.2(TTN):c.97192+6G>A | 7273 | TTN | Conflicting interpretations of pathogenicity | 367760700 | RCV000607160|RCV000997344|RCV001133852|RCV001133854|RCV001133851|RCV001133853|RCV001133855; | N | MedGen: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:00114 | 2 | 179407383 | 179407383 | | | 2:g.179407383C>T | ClinGen:CA1986616 | CN169374 not specified; | |
NM_001267550.2(TTN):c.97112T>G (p.Ile32371Ser) | 7273 | TTN | Uncertain significance | 748682168 | RCV001133856|RCV001135347|RCV001135349|RCV001135348|RCV001135350; | N | 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, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179407469 | 179407469 | | | 2:g.179407469A>C | - | | |
NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 202064385 | RCV000040848|RCV000185032|RCV000242748|RCV001085595|RCV001130310|RCV001135351|RCV001135352|RCV001135353|RCV001135354|RCV001798203; | N | MedGen: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:0011400 | 2 | 179407482 | 179407482 | | | 2:g.179407482G>A | ClinGen:CA141408 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.97045G>A (p.Glu32349Lys) | 7273 | TTN | Uncertain significance | 1695237277 | RCV001130311|RCV001130312|RCV001130313|RCV001130314|RCV001130315; | N | 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, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179407536 | 179407536 | | | 2:g.179407536C>T | - | | |
NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile) | 7273 | TTN | Benign/Likely benign | 56027402 | RCV000040843|RCV000248418|RCV000299281|RCV000298233|RCV000351970|RCV000352941|RCV000400220|RCV000471009|RCV000769870|RCV001528503; | N | MedGen: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, | 2 | 179407637 | 179407637 | | | 2:g.179407637G>A | ClinGen:CA284147 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.96931A>G (p.Met32311Val) | 7273 | TTN | Uncertain significance | 727504981 | RCV000156396|RCV000264342|RCV000270185|RCV000324146|RCV000325412|RCV000360131; | N | 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:0012127,MedGen:C1837342,OMIM:608807,Orp | 2 | 179407650 | 179407650 | | | 2:g.179407650T>C | ClinGen:CA184758 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.96904+8C>T | 7273 | TTN | Benign/Likely benign | 528358945 | RCV000152173|RCV000863554|RCV001840067|RCV001840068|RCV001840069|RCV001840070; | N | 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:C1837342,OMIM:608807,Orp | 2 | 179407788 | 179407788 | | | 2:g.179407788G>A | ClinGen:CA178403 | CN169374 not specified; | |
NM_001267550.2(TTN):c.96887C>T (p.Thr32296Ile) | 7273 | TTN | Uncertain significance | 773279450 | RCV001198836; | N | MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609 | 2 | 179407813 | 179407813 | | | 2:g.179407813G>A | - | | |
NM_001267550.2(TTN):c.96491A>G (p.Tyr32164Cys) | 7273 | TTN | Uncertain significance | 886055229 | RCV000281990|RCV000301854|RCV000336985|RCV000390080|RCV000400029; | N | 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:C1858763,OMIM:604145,O | 2 | 179408209 | 179408209 | | | 2:g.179408209T>C | ClinGen:CA10613212 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.96252A>G (p.Thr32084=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 369626133 | RCV000040837|RCV000272185|RCV000307689|RCV000327286|RCV000362345|RCV000367993|RCV000621254|RCV000724900|RCV001086829; | N | MedGen: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, | 2 | 179408619 | 179408619 | | | 2:g.179408619T>C | ClinGen:CA141374 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn) | 7273 | TTN | Conflicting interpretations of pathogenicity | 200540781 | RCV000219446|RCV000273519|RCV000316543|RCV000334102|RCV000375971|RCV000388603|RCV000464293|RCV000617391|RCV000725268|RCV003150052|RCV003319185; | N | MedGen: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:C18587 | 2 | 179408636 | 179408636 | | | 2:g.179408636C>T | ClinGen:CA302919 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln) | 7273 | TTN | Conflicting interpretations of pathogenicity | 374063064 | RCV000221381|RCV000312975|RCV000307260|RCV000348077|RCV000367679|RCV000393913|RCV000465608|RCV000620724|RCV000728761; | N | MedGen: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, | 2 | 179408698 | 179408698 | | | 2:g.179408698C>T | ClinGen:CA1986808 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.96108G>A (p.Val32036=) | 7273 | TTN | Benign/Likely benign | 372773283 | RCV000040832|RCV000465115|RCV000618903|RCV001081715|RCV001839732|RCV001839734|RCV001839735|RCV001839733; | N | MedGen: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:0011362 | 2 | 179408763 | 179408763 | | | | ClinGen:CA232506 | | |
NM_001267550.2(TTN):c.96026T>G (p.Ile32009Arg) | 7273 | TTN | Conflicting interpretations of pathogenicity | 375368824 | RCV000475458|RCV000839289|RCV001131256|RCV001131257|RCV001131258|RCV001131259|RCV001130529; | N | MONDO: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, | 2 | 179408930 | 179408930 | | | NC_000002.11:g.179408930A>C | ClinGen:CA1986834 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.96008T>C (p.Ile32003Thr) | 7273 | TTN | Conflicting interpretations of pathogenicity | 745962752 | RCV000601678|RCV001134224|RCV001131261|RCV001131263|RCV001131260|RCV001131262|RCV003139928; | N | MedGen: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,Orp | 2 | 179408948 | 179408948 | | | 2:g.179408948A>G | ClinGen:CA1986840 | CN169374 not specified; | |
NM_001267550.2(TTN):c.95829A>G (p.Gly31943=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 572618111 | RCV000263135|RCV000266669|RCV000301954|RCV000323963|RCV000355650|RCV000597226; | N | 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,OMIM:608807,Orph | 2 | 179409127 | 179409127 | | | 2:g.179409127T>C | ClinGen:CA1986868 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr) | 7273 | TTN | Conflicting interpretations of pathogenicity | 72648263 | RCV000040830|RCV000172615|RCV000292373|RCV000270075|RCV000327509|RCV000349608|RCV000380825|RCV000621105|RCV000769875|RCV000852785|RCV001085084; | N | MedGen: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:C1858 | 2 | 179410184 | 179410184 | | | 2:g.179410184C>T | ClinGen:CA141349 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.95557C>T (p.Arg31853Cys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 727503542 | RCV000152178|RCV001131362|RCV001134360|RCV001134362|RCV001134361|RCV001134363; | N | MedGen: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:C26736 | 2 | 179410280 | 179410280 | | | 2:g.179410280G>A | ClinGen:CA178417 | CN169374 not specified; | |
NM_001267550.2(TTN):c.95490A>G (p.Lys31830=) | 7273 | TTN | Uncertain significance | 1696713042 | RCV001128837|RCV001128835|RCV001128836|RCV001135829|RCV001135830; | N | 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, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179410347 | 179410347 | | | 2:g.179410347T>C | - | | |
NM_001267550.2(TTN):c.95468A>G (p.His31823Arg) | 7273 | TTN | Uncertain significance | 794729539 | RCV000222231|RCV000273243|RCV000276697|RCV000330564|RCV000334055|RCV000368918|RCV000733870|RCV002362965; | N | 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:0012127,MedGen:C1837342, | 2 | 179410369 | 179410369 | | | 2:g.179410369T>C | ClinGen:CA310977 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.95342G>A (p.Arg31781Gln) | 7273 | TTN | Uncertain significance | 748984928 | RCV000185015|RCV000279405|RCV000318154|RCV000283010|RCV000375134|RCV000397912; | N | MedGen: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:C18587 | 2 | 179410621 | 179410621 | | | 2:g.179410621C>T | ClinGen:CA310971 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.95336T>C (p.Ile31779Thr) | 7273 | TTN | Uncertain significance | 1460359915 | RCV001131496|RCV001131497|RCV001131498|RCV001134486|RCV001134485|RCV002556840|RCV003223700; | N | 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,OMIM:608807,Orph | 2 | 179410627 | 179410627 | | | 2:g.179410627A>G | - | | |
NM_001267550.2(TTN):c.95320A>G (p.Lys31774Glu) | 7273 | TTN | Conflicting interpretations of pathogenicity | 762265902 | RCV000172186|RCV000286462|RCV000308968|RCV000365968|RCV000389961|RCV000399987|RCV000469609|RCV002307433|RCV003398882; | N | 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:C1863599,OMIM:603689, | 2 | 179410643 | 179410643 | | | 2:g.179410643T>C | ClinGen:CA302411 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.95244C>T (p.Arg31748=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 368243641 | RCV000040822|RCV000244797|RCV000467863|RCV001128956|RCV001128957|RCV001131614|RCV001131615|RCV001131613|RCV001529974; | N | MedGen: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:C2673677 | 2 | 179410719 | 179410719 | | | | ClinGen:CA284115 | | |
NM_001267550.2(TTN):c.95196G>A (p.Pro31732=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 752309744 | RCV000292154|RCV000349691|RCV000346099|RCV000384378|RCV000400307|RCV000643496|RCV001712058|RCV001729543|RCV002365393; | N | 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, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179410767 | 179410767 | | | 2:g.179410767C>T | ClinGen:CA1986992 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 869320742 | RCV000119024|RCV000255214|RCV001132649|RCV001132648|RCV001136029|RCV001136030|RCV001380728; | N | MONDO: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:C18587 | 2 | 179410776 | 179410776 | | | 2:g.179410776C>G | ClinGen:CA358826 | C1863599 603689 Hereditary myopathy with early respiratory failure; | |
NM_001267550.2(TTN):c.95163A>G (p.Thr31721=) | 7273 | TTN | Uncertain significance | 376944872 | RCV000264948|RCV000300098|RCV000303748|RCV000334461|RCV000399543; | N | 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:C1863599,OMIM:603689, Orphanet:178464,Orp | 2 | 179410800 | 179410800 | | | 2:g.179410800T>C | ClinGen:CA10611602 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.95153G>T (p.Ser31718Ile) | 7273 | TTN | Conflicting interpretations of pathogenicity | 758006837 | RCV000468524|RCV001129060|RCV001129061|RCV001129062|RCV001129063|RCV001136031|RCV001662418; | N | 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, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179410810 | 179410810 | | | NC_000002.11:g.179410810C>A | ClinGen:CA1986997 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.95078C>A (p.Ala31693Asp) | 7273 | TTN | Conflicting interpretations of pathogenicity | 2288326 | RCV000040817|RCV000172188|RCV000268106|RCV000272165|RCV000325497|RCV000360898|RCV000382966|RCV001083436; | N | MedGen: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:00114 | 2 | 179410980 | 179410980 | | | 2:g.179410980G>T | ClinGen:CA141318 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.95047A>G (p.Ser31683Gly) | 7273 | TTN | Benign/Likely benign | 72648257 | RCV000040816|RCV000246124|RCV000279054|RCV000294220|RCV000351457|RCV000389812|RCV000386350|RCV000473882|RCV000993511; | N | MedGen: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:C2673677 | 2 | 179411011 | 179411011 | | | 2:g.179411011T>C | ClinGen:CA284100 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn) | 7273 | TTN | Benign/Likely benign | 116567963 | RCV000040815|RCV000301598|RCV000305370|RCV000362291|RCV000399434|RCV000396306|RCV000617586|RCV000714125|RCV001084403|RCV001798199|RCV002504915; | N | MedGen: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,Orp | 2 | 179411023 | 179411023 | | | 2:g.179411023C>T | ClinGen:CA284095 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.94864G>A (p.Gly31622Ser) | 7273 | TTN | Uncertain significance | 1385680314 | RCV001129179|RCV001129180|RCV001129176|RCV001129177|RCV001129178; | N | 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,OMIM:608807,Orph | 2 | 179411194 | 179411194 | | | 2:g.179411194C>T | - | | |
NM_001267550.2(TTN):c.94652T>C (p.Val31551Ala) | 7273 | TTN | Uncertain significance | 369870689 | RCV000339696|RCV000765539|RCV001136262|RCV001136263|RCV001136264|RCV001136265|RCV001195640|RCV001136266; | N | MedGen: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,OM | 2 | 179411503 | 179411503 | | | 2:g.179411503A>G | ClinGen:CA1987085 | CN169374 not specified; | |
NM_001267550.2(TTN):c.94629A>G (p.Ile31543Met) | 7273 | TTN | Conflicting interpretations of pathogenicity | 397517759 | RCV000040811|RCV000247537|RCV000277148|RCV000298221|RCV000353169|RCV000356392|RCV000390504; | N | MedGen: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:C2673677 | 2 | 179411526 | 179411526 | | | 2:g.179411526T>C | ClinGen:CA141305 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 376539252 | RCV000040810|RCV000288131|RCV000328211|RCV000332146|RCV000367671|RCV000382848|RCV000726857|RCV000768855|RCV001085173|RCV002362653; | N | MedGen: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, | 2 | 179411532 | 179411532 | | | | ClinGen:CA284085 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.94599T>C (p.Asp31533=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 764363274 | RCV000284524|RCV000324430|RCV000340044|RCV000378998|RCV000395826|RCV001393465|RCV003114492|RCV003278775; | N | 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:C1858763,OMIM:604145,O | 2 | 179411556 | 179411556 | | | 2:g.179411556A>G | ClinGen:CA1987094 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.94464T>C (p.Ala31488=) | 7273 | TTN | Benign/Likely benign | 138888307 | RCV000438987|RCV000867179|RCV001840560|RCV001840561|RCV001840562|RCV001840563|RCV002365562; | N | 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:C1837342,OMIM:608807,Orp | 2 | 179411788 | 179411788 | | | 2:g.179411788A>G | ClinGen:CA1987134 | CN169374 not specified; | |
NM_001267550.2(TTN):c.94282C>A (p.Arg31428Ser) | 7273 | TTN | Conflicting interpretations of pathogenicity | 190282707 | RCV000695149|RCV000727765|RCV000765540|RCV001196687; | N | MONDO: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:609 | 2 | 179411970 | 179411970 | | | 2:g.179411970G>T | ClinGen:CA310944 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.94239C>A (p.Thr31413=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 1042759526 | RCV001136382|RCV001132942|RCV001132943|RCV001132944|RCV001132945|RCV002065447|RCV002363318|RCV003438547; | N | 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, Orphanet:178464,Orp | 2 | 179412013 | 179412013 | | | 2:g.179412013G>T | - | | |
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His) | 7273 | TTN | Benign/Likely benign | 181104321 | RCV000040808|RCV000172618|RCV001081587|RCV001129392|RCV001129393|RCV001129394|RCV001136388|RCV001136389|RCV001171241|RCV002362651; | N | MedGen: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:C2673677 | 2 | 179412307 | 179412307 | | | 2:g.179412307C>T | ClinGen:CA141296 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.94045C>T (p.Arg31349Cys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 727503549 | RCV000152186|RCV000618452|RCV001129395|RCV001129398|RCV001129396|RCV001129397|RCV001129399; | N | MedGen: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:00127 | 2 | 179412308 | 179412308 | | | 2:g.179412308G>A | ClinGen:CA178433 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.93940G>A (p.Gly31314Ser) | 7273 | TTN | Uncertain significance | 368608059 | RCV000271007|RCV000292460|RCV000322843|RCV000307460|RCV000362349|RCV000365645; | N | MONDO: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, | 2 | 179412413 | 179412413 | | | 2:g.179412413C>T | ClinGen:CA1987223 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.93901G>A (p.Val31301Ile) | 7273 | TTN | Benign/Likely benign | 67665715 | RCV000040806|RCV000247652|RCV000264235|RCV000279952|RCV000319403|RCV000334969|RCV000377429|RCV000475733|RCV000714121; | N | MedGen: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:C1863 | 2 | 179412452 | 179412452 | | | 2:g.179412452C>T | ClinGen:CA284080 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.93868C>T (p.Leu31290=) | 7273 | TTN | Benign/Likely benign | 557737090 | RCV000428661|RCV000950980|RCV001573781|RCV001840552|RCV001840553|RCV001840554|RCV001840555|RCV002488952|RCV002365542; | N | MedGen: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:C1837342 | 2 | 179412485 | 179412485 | | | 2:g.179412485G>A | ClinGen:CA1987235 | CN169374 not specified; | |
NM_001267550.2(TTN):c.93576T>C (p.Ala31192=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 377521708 | RCV000621164|RCV001129495|RCV001129496|RCV001132226|RCV001132227|RCV001132228|RCV001496580; | N | 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:0011400,MedGen:C18587 | 2 | 179412777 | 179412777 | | | 2:g.179412777A>G | ClinGen:CA1987279 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.93524G>A (p.Arg31175His) | 7273 | TTN | Conflicting interpretations of pathogenicity | 72648251 | RCV000302003|RCV000305405|RCV000356493|RCV000360124|RCV000399391|RCV000725160|RCV001086637|RCV002362961; | N | 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,OMIM:611705,Orph | 2 | 179412829 | 179412829 | | | 2:g.179412829C>T | ClinGen:CA310920 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.93387C>T (p.Ser31129=) | 7273 | TTN | Benign/Likely benign | 35445420 | RCV000040801|RCV000251279|RCV000261677|RCV000277067|RCV000332072|RCV000371452|RCV000386684|RCV000469267|RCV000993509; | N | MedGen: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:C1863599 | 2 | 179412966 | 179412966 | | | | ClinGen:CA284070 | | |
NM_001267550.2(TTN):c.93288T>C (p.Tyr31096=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 1280272876 | RCV001133149|RCV001133150|RCV001134628|RCV001134627|RCV001288141|RCV001133148|RCV002365807|RCV002556856; | N | 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, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179413065 | 179413065 | | | 2:g.179413065A>G | - | | |
NM_001267550.2(TTN):c.93243C>T (p.Ala31081=) | 7273 | TTN | Benign | 3731748 | RCV000040799|RCV000244309|RCV000289382|RCV000292385|RCV000347955|RCV000383878|RCV000394390|RCV001513444; | N | MedGen: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:C1858 | 2 | 179413110 | 179413110 | | | | ClinGen:CA284065 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.93071C>T (p.Thr31024Ile) | 7273 | TTN | Uncertain significance | -1 | RCV003148036|RCV003148038|RCV003148035|RCV003148037|RCV003148039|RCV003148040; | N | MONDO: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:0011362 | 2 | 179413282 | 179413282 | | | | - | | |
NM_001267550.2(TTN):c.93043G>C (p.Asp31015His) | 7273 | TTN | Uncertain significance | -1 | RCV003148104|RCV003148103|RCV003148105|RCV003148106|RCV003148107|RCV003148108; | N | MONDO: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:0011362 | 2 | 179413310 | 179413310 | | | | - | | |
NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile) | 7273 | TTN | Conflicting interpretations of pathogenicity | 200476500 | RCV000155822|RCV000172198|RCV000286331|RCV000282938|RCV000322760|RCV000380708|RCV000377371|RCV000466689|RCV002362824; | N | MedGen: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:C1863599 | 2 | 179413547 | 179413547 | | | 2:g.179413547C>T | ClinGen:CA183583 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser) | 7273 | TTN | Conflicting interpretations of pathogenicity | 186234393 | RCV000249807|RCV000278867|RCV000315107|RCV000336224|RCV000373149|RCV000338023|RCV000397381|RCV000397369|RCV000461639|RCV000768859|RCV001084202|RCV001293190; | N | MedGen: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:60 | 2 | 179413654 | 179413654 | | | 2:g.179413654T>C | ClinGen:CA310908 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln) | 7273 | TTN | Conflicting interpretations of pathogenicity | 200141081 | RCV000152188|RCV000172199|RCV000269133|RCV000309213|RCV000326590|RCV000367439|RCV000402112|RCV000619946|RCV000642884|RCV001798477; | N | MedGen: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:00114 | 2 | 179413669 | 179413669 | | | 2:g.179413669C>T | ClinGen:CA178440 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.92671G>T (p.Glu30891Ter) | 7273 | TTN | Likely pathogenic | -1 | RCV003330302; | N | 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, Orphanet:154 | 2 | 179413682 | 179413682 | | | | - | | |
NM_001267550.2(TTN):c.92590G>A (p.Asp30864Asn) | 7273 | TTN | Conflicting interpretations of pathogenicity | 200621611 | RCV000280857|RCV000268053|RCV000319148|RCV000360353|RCV000377684|RCV000643867|RCV001704928|RCV002271448|RCV002362960; | N | 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,OMIM:608807,Orph | 2 | 179413763 | 179413763 | | | 2:g.179413763C>T | ClinGen:CA310905 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.92506A>C (p.Thr30836Pro) | 7273 | TTN | Conflicting interpretations of pathogenicity | 762590394 | RCV000279338|RCV000349657|RCV000350645|RCV000371523|RCV000405703|RCV000871575; | N | 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,OMIM:608807,Orph | 2 | 179413847 | 179413847 | | | 2:g.179413847T>G | ClinGen:CA1987436 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.92454C>T (p.Pro30818=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 771773845 | RCV000305866|RCV000307101|RCV000345585|RCV000395449|RCV000399321|RCV002057615|RCV003168502; | N | 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, Orphanet:178464,Orp | 2 | 179413899 | 179413899 | | | 2:g.179413899G>A | ClinGen:CA10613032 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.92336G>C (p.Arg30779Thr) | 7273 | TTN | Uncertain significance | 1289817129 | RCV001134821|RCV001134823|RCV001134824|RCV001134822|RCV001134825; | N | 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, Orphanet:178464,Orp | 2 | 179414017 | 179414017 | | | 2:g.179414017C>G | - | | |
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val) | 7273 | TTN | Benign/Likely benign | 16866391 | RCV000040790|RCV000245293|RCV000265722|RCV000260244|RCV000299917|RCV000317829|RCV000388723|RCV000460055|RCV000768862|RCV000993507; | N | MedGen: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:00121 | 2 | 179414162 | 179414162 | | | 2:g.179414162T>C | ClinGen:CA284041 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.92131G>A (p.Val30711Met) | 7273 | TTN | Benign/Likely benign | 747122 | RCV000040788|RCV000252627|RCV000301698|RCV000341375|RCV000340281|RCV000394060|RCV000394080|RCV001517432; | N | MedGen: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:00114 | 2 | 179414318 | 179414318 | | | 2:g.179414318C>T | ClinGen:CA284036 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.92058C>T (p.Asn30686=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 545632095 | RCV000261221|RCV000273979|RCV000301245|RCV000313974|RCV000370975|RCV000727949|RCV001088384|RCV002356450; | N | 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, Orphanet:140922|MON | 2 | 179414391 | 179414391 | | | 2:g.179414391G>A | ClinGen:CA1987511 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.91879A>G (p.Ile30627Val) | 7273 | TTN | Conflicting interpretations of pathogenicity | 535151633 | RCV000156873|RCV000727085|RCV001130618|RCV001130620|RCV001130619|RCV001130621|RCV001130622; | N | MedGen: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:00114 | 2 | 179414570 | 179414570 | | | 2:g.179414570T>C | ClinGen:CA185748 | CN169374 not specified; | |
NM_001267550.2(TTN):c.91871T>C (p.Val30624Ala) | 7273 | TTN | Uncertain significance | 886055231 | RCV000280936|RCV000279281|RCV000339232|RCV000338199|RCV000377731|RCV001770267; | N | 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, Orphanet:154|MON | 2 | 179414578 | 179414578 | | | 2:g.179414578A>G | ClinGen:CA10611603 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.91852+8T>A | 7273 | TTN | Benign/Likely benign | 56145100 | RCV000040784|RCV000310069|RCV000350604|RCV000368080|RCV000390081|RCV000398070|RCV000476452|RCV000993506; | N | MedGen: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, | 2 | 179414705 | 179414705 | | | 2:g.179414705A>T | ClinGen:CA284030 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.91621G>A (p.Gly30541Arg) | 7273 | TTN | Conflicting interpretations of pathogenicity | 200854704 | RCV000040782|RCV000172620|RCV000282263|RCV000295443|RCV000316301|RCV000352604|RCV000373589|RCV000457779|RCV002362644; | N | MedGen: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:C2673677 | 2 | 179414944 | 179414944 | | | 2:g.179414944C>T | ClinGen:CA141232 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.91601A>T (p.Asp30534Val) | 7273 | TTN | Conflicting interpretations of pathogenicity | 182549226 | RCV000040781|RCV000294400|RCV000307351|RCV000347053|RCV000359863|RCV000403395|RCV000723853|RCV001081378|RCV002362643|RCV003149661; | N | MedGen: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, | 2 | 179414964 | 179414964 | | | 2:g.179414964T>A | ClinGen:CA141227 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.91565-13C>T | 7273 | TTN | Benign/Likely benign | 200847757 | RCV000040779|RCV001133722|RCV001133723|RCV001133724|RCV001135210|RCV001135211|RCV001529821|RCV002054797; | N | MedGen: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, | 2 | 179415013 | 179415013 | | | 2:g.179415013G>A | ClinGen:CA210979 | CN169374 not specified; | |
NM_001267550.2(TTN):c.91514T>C (p.Ile30505Thr) | 7273 | TTN | Uncertain significance | 1699227127 | RCV001130182|RCV001130179|RCV001130180|RCV001130181|RCV001135212; | N | 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, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179415744 | 179415744 | | | 2:g.179415744A>G | - | | |
NM_001267550.2(TTN):c.91373G>A (p.Ser30458Asn) | 7273 | TTN | Conflicting interpretations of pathogenicity | 376634713 | RCV000262504|RCV000296494|RCV000331575|RCV000332733|RCV000386114|RCV001570054|RCV002365395; | N | 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, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179415885 | 179415885 | | | 2:g.179415885C>T | ClinGen:CA1987639 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.91343G>A (p.Arg30448His) | 7273 | TTN | Conflicting interpretations of pathogenicity | 374474227 | RCV001135356|RCV001135359|RCV001135358|RCV001135355|RCV001135357|RCV002473203|RCV003150387; | N | 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:C1863599,OMIM:603689, Orphanet:178464, | 2 | 179415915 | 179415915 | | | 2:g.179415915C>T | - | | |
NM_001267550.2(TTN):c.91316T>C (p.Ile30439Thr) | 7273 | TTN | Uncertain significance | 561319486 | RCV001130317|RCV001130316|RCV001135360|RCV001135361|RCV001135362; | N | 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, Orphanet:154|MON | 2 | 179415942 | 179415942 | | | 2:g.179415942A>G | - | | |
NM_001267550.2(TTN):c.91089G>A (p.Lys30363=) | 7273 | TTN | Benign/Likely benign | 762103106 | RCV000558980|RCV000600137|RCV001840679|RCV001840680|RCV001840681|RCV001840682|RCV002358532; | N | 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:C1837342,OMIM:608807,Orp | 2 | 179416538 | 179416538 | | | NC_000002.11:g.179416538C>T | ClinGen:CA1987692 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys) | 7273 | TTN | Benign/Likely benign | 11887722 | RCV000040772|RCV000249575|RCV000276129|RCV000272484|RCV000310929|RCV000326457|RCV000381058|RCV000476363|RCV000714114; | N | MedGen: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:00114 | 2 | 179416659 | 179416659 | | | 2:g.179416659C>T | ClinGen:CA284015 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly) | 7273 | TTN | Conflicting interpretations of pathogenicity | 150430592 | RCV000040770|RCV000082445|RCV000278620|RCV000286969|RCV000327591|RCV000376846|RCV000373393|RCV000618823|RCV000852794|RCV001083184|RCV001798195; | N | MedGen: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:C1863599 | 2 | 179416801 | 179416801 | | | 2:g.179416801A>C | ClinGen:CA141197 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.90652A>G (p.Thr30218Ala) | 7273 | TTN | Conflicting interpretations of pathogenicity | 768528782 | RCV000312839|RCV000314139|RCV000338390|RCV000349241|RCV000406601; | N | 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, Orphanet:178464, | 2 | 179416975 | 179416975 | | | 2:g.179416975T>C | ClinGen:CA1987762 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His) | 7273 | TTN | Conflicting interpretations of pathogenicity | 149567378 | RCV000040766|RCV000082444|RCV000269727|RCV000310741|RCV000320246|RCV000365525|RCV000364179|RCV000617583|RCV000852796|RCV001083905|RCV001798194; | N | MedGen: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:C1863599 | 2 | 179417091 | 179417091 | | | 2:g.179417091C>T | ClinGen:CA141188 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.90244A>G (p.Ile30082Val) | 7273 | TTN | Uncertain significance | 777636306 | RCV000282611|RCV000317803|RCV000318793|RCV000372414|RCV000379570|RCV000477042; | N | 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, Orphanet:178464,Orp | 2 | 179417383 | 179417383 | | | 2:g.179417383T>C | ClinGen:CA1987813 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.89994G>A (p.Ser29998=) | 7273 | TTN | Benign/Likely benign | 142891278 | RCV000040763|RCV000226927|RCV000617446|RCV001082920|RCV001131145|RCV001134102|RCV001134101|RCV001134103|RCV001134100; | N | MedGen: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:0011362 | 2 | 179417633 | 179417633 | | | | ClinGen:CA284010 | | |
NM_001267550.2(TTN):c.89989T>A (p.Leu29997Met) | 7273 | TTN | Conflicting interpretations of pathogenicity | 369855092 | RCV000155823|RCV000289428|RCV000292921|RCV000352439|RCV000344162|RCV000387336|RCV000643752|RCV001798515|RCV002354376; | N | MedGen: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,Orp | 2 | 179417638 | 179417638 | | | 2:g.179417638A>T | ClinGen:CA183587 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.89924C>T (p.Ala29975Val) | 7273 | TTN | Conflicting interpretations of pathogenicity | 117097948 | RCV000304317|RCV000309343|RCV000354346|RCV000395131|RCV000395132; | N | 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, Orphanet:140922|MON | 2 | 179417703 | 179417703 | | | 2:g.179417703G>A | ClinGen:CA1987854 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.89479C>G (p.Pro29827Ala) | 7273 | TTN | Uncertain significance | 201620815 | RCV000259575|RCV000319559|RCV000330153|RCV000355635|RCV000388791|RCV003137942; | N | 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,OMIM:611705,Orph | 2 | 179418253 | 179418253 | | | 2:g.179418253G>C | ClinGen:CA10611606 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.89392T>A (p.Ser29798Thr) | 7273 | TTN | Uncertain significance | 886055232 | RCV000291322|RCV000295001|RCV000326555|RCV000346314|RCV000381121; | N | 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, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179418340 | 179418340 | | | 2:g.179418340A>T | ClinGen:CA10613035 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.89317A>T (p.Ile29773Leu) | 7273 | TTN | Benign/Likely benign | 77853750 | RCV000040757|RCV000203965|RCV000270837|RCV000274110|RCV000300017|RCV000334039|RCV000368714|RCV000618137|RCV000769891|RCV001082098; | N | MedGen: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:C1837342 | 2 | 179418415 | 179418415 | | | 2:g.179418415T>A | ClinGen:CA284005 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.89136C>T (p.Asn29712=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 376289479 | RCV000040754|RCV000867974|RCV001134365|RCV001134364|RCV001134366|RCV001135832|RCV001135831|RCV001703911|RCV002354220; | N | 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:C1863599,OMIM:603689,Orp | 2 | 179418702 | 179418702 | | | 2:g.179418702G>A | ClinGen:CA141155 | CN169374 not specified; | |
NM_001267550.2(TTN):c.88992T>C (p.Asp29664=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 201658018 | RCV000313083|RCV000335374|RCV000338706|RCV000373666|RCV000406194|RCV001475903; | N | 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:C1837342,OMIM:608807,O | 2 | 179418846 | 179418846 | | | 2:g.179418846A>G | ClinGen:CA10613213 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.88954G>A (p.Val29652Ile) | 7273 | TTN | Uncertain significance | 756561910 | RCV001128838|RCV001128840|RCV001128839|RCV001128841|RCV001135833|RCV002281161; | N | 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:C1858763,OMIM:604145,O | 2 | 179418884 | 179418884 | | | 2:g.179418884C>T | - | | |
NM_001267550.2(TTN):c.88951A>G (p.Thr29651Ala) | 7273 | TTN | Uncertain significance | 879233366 | RCV001128845|RCV001128842|RCV001128843|RCV001128844|RCV001131499; | N | 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:C1858763,OMIM:604145,O | 2 | 179418887 | 179418887 | | | 2:g.179418887T>C | - | | |
NM_001267550.2(TTN):c.88895-18C>T | 7273 | TTN | Benign | 547463003 | RCV000435051|RCV001840532|RCV001840534|RCV001840533|RCV001840535|RCV002061566; | N | MedGen: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:C26736 | 2 | 179418961 | 179418961 | | | 2:g.179418961G>A | ClinGen:CA1988020 | CN169374 not specified; | |
NM_001267550.2(TTN):c.88774A>G (p.Ile29592Val) | 7273 | TTN | Uncertain significance | 1700602244 | RCV001134489|RCV001134490|RCV001134491|RCV001134488|RCV001134492; | N | 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, Orphanet:289377|MON | 2 | 179419300 | 179419300 | | | 2:g.179419300T>C | - | | |
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 200513274 | RCV000223660|RCV000301842|RCV000307858|RCV000359092|RCV000396053|RCV000404508|RCV000526235|RCV000509283|RCV000727677|RCV002354516; | N | MedGen: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, | 2 | 179419354 | 179419354 | | | 2:g.179419354G>A | ClinGen:CA310790 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.88510G>A (p.Asp29504Asn) | 7273 | TTN | Benign/Likely benign | 376679796 | RCV000040751|RCV000618971|RCV000643094|RCV001668168|RCV001839720|RCV001839721|RCV001839723|RCV001839722; | N | MedGen: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:0012127 | 2 | 179419676 | 179419676 | | | 2:g.179419676C>T | ClinGen:CA141146 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.88476C>G (p.Thr29492=) | 7273 | TTN | Benign/Likely benign | 190406444 | RCV000040749|RCV000714110|RCV001086496|RCV001839716|RCV001839717|RCV001839718|RCV001839719|RCV002354218; | N | MedGen: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:C1837342 | 2 | 179419710 | 179419710 | | | | ClinGen:CA283995 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.88407G>A (p.Ala29469=) | 7273 | TTN | Benign/Likely benign | 531445644 | RCV000152194|RCV000887825|RCV001840075|RCV001840076|RCV001840077|RCV001840078|RCV002354349|RCV002498709|RCV003326362; | N | 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:C1837342,OMIM:608807,Orp | 2 | 179419779 | 179419779 | | | 2:g.179419779C>T | ClinGen:CA178453 | CN169374 not specified; | |
NM_001267550.2(TTN):c.88272G>A (p.Glu29424=) | 7273 | TTN | Benign | 9808036 | RCV000040745|RCV000250427|RCV000275339|RCV000288341|RCV000326945|RCV000383980|RCV000389562|RCV001517434; | N | MedGen: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:00121 | 2 | 179421609 | 179421609 | | | 2:g.179421609C>T | ClinGen:CA283990 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr) | 7273 | TTN | Benign/Likely benign | 9808377 | RCV000040744|RCV000251022|RCV000285122|RCV000342422|RCV000339936|RCV000403222|RCV000402430|RCV000993503|RCV001513445; | N | MedGen: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:C1863 | 2 | 179421694 | 179421694 | | | 2:g.179421694A>G | ClinGen:CA283985 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.88152G>A (p.Lys29384=) | 7273 | TTN | Benign/Likely benign | 1206935877 | RCV000924650|RCV001480070|RCV001840770|RCV001840772|RCV001840771|RCV001840773; | N | 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:C1863599,OMIM:603689,Orp | 2 | 179421729 | 179421729 | | | 2:g.179421729C>T | - | | |
NM_001267550.2(TTN):c.88134A>G (p.Pro29378=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 374612925 | RCV000276661|RCV000311836|RCV000356207|RCV000368821|RCV000394705|RCV000470428|RCV000728173|RCV001613083|RCV002356451; | N | 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, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179421747 | 179421747 | | | 2:g.179421747T>C | ClinGen:CA1988192 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.88090G>A (p.Gly29364Ser) | 7273 | TTN | Conflicting interpretations of pathogenicity | 183013408 | RCV000040742|RCV000270510|RCV000327903|RCV000334082|RCV000362829|RCV000384731|RCV000475243|RCV000618175|RCV000725444|RCV001798192; | N | 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:0012714,MedGen:C2673677,OMIM:611705,Orp | 2 | 179421791 | 179421791 | | | 2:g.179421791C>T | ClinGen:CA141118 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.88047G>A (p.Lys29349=) | 7273 | TTN | Uncertain significance | 748102856 | RCV001136153|RCV001136154|RCV001136155|RCV001136156|RCV001136152; | N | 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:C1837342,OMIM:608807,O | 2 | 179421834 | 179421834 | | | 2:g.179421834C>T | - | | |
NM_001267550.2(TTN):c.88009+5G>A | 7273 | TTN | Uncertain significance | 148231754 | RCV000184394|RCV000231587|RCV001129182|RCV001129181|RCV001129183|RCV001136158|RCV001136157; | N | 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:C1858763,OMIM:604145,Orp | 2 | 179421975 | 179421975 | | | NC_000002.11:g.179421975C>T | ClinGen:CA309510 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile) | 7273 | TTN | Conflicting interpretations of pathogenicity | 141624266 | RCV000118785|RCV000040738|RCV000307938|RCV000313315|RCV000370289|RCV000403035|RCV000397868|RCV001080518|RCV001170318|RCV002354214; | N | MedGen: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:C1863599 | 2 | 179422181 | 179422181 | | | 2:g.179422181C>T | ClinGen:CA141102 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.87781C>T (p.Pro29261Ser) | 7273 | TTN | Uncertain significance | -1 | RCV003340939; | N | MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609 | 2 | 179422208 | 179422208 | | | | - | | |
NM_001267550.2(TTN):c.87600G>C (p.Met29200Ile) | 7273 | TTN | Conflicting interpretations of pathogenicity | 750362675 | RCV000614303|RCV000643213|RCV001129289|RCV001129286|RCV001129287|RCV001129288|RCV001129290|RCV001698079; | N | 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:0012714,MedGen:C2673677,OMIM:611705,Orp | 2 | 179422481 | 179422481 | | | 2:g.179422481C>G | ClinGen:CA1988293 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.87329C>T (p.Ala29110Val) | 7273 | TTN | Conflicting interpretations of pathogenicity | 763682832 | RCV000296535|RCV000309482|RCV000344377|RCV000388467|RCV000404617; | N | 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,OMIM:608807,Orph | 2 | 179422752 | 179422752 | | | 2:g.179422752G>A | ClinGen:CA1988331 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.87280G>A (p.Glu29094Lys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 199501185 | RCV000259204|RCV000299316|RCV000305120|RCV000406021|RCV000359745|RCV000540529|RCV000727727|RCV002354512; | N | 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:C1837342,OMIM:608807,O | 2 | 179422801 | 179422801 | | | 2:g.179422801C>T | ClinGen:CA310747 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.87137T>G (p.Met29046Arg) | 7273 | TTN | Conflicting interpretations of pathogenicity | 143975327 | RCV000154905|RCV000264981|RCV000270733|RCV000329578|RCV000389752|RCV000384089|RCV000457318|RCV002354368; | N | MedGen: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, | 2 | 179422944 | 179422944 | | | 2:g.179422944A>C | ClinGen:CA181669 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.87087T>C (p.Leu29029=) | 7273 | TTN | Benign/Likely benign | 12621078 | RCV000040729|RCV000243052|RCV000282145|RCV000337220|RCV000350111|RCV000385942|RCV000404840|RCV000461868|RCV000993500; | N | MedGen: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:C1863599 | 2 | 179423099 | 179423099 | | | 2:g.179423099A>G | ClinGen:CA283975 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.86983G>A (p.Ala28995Thr) | 7273 | TTN | Conflicting interpretations of pathogenicity | 774191975 | RCV000303011|RCV000343285|RCV000357853|RCV000394606|RCV000404006|RCV000471925|RCV001531503; | N | 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, Orphanet:609|MON | 2 | 179423203 | 179423203 | | | 2:g.179423203C>T | ClinGen:CA1988398 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.86949A>G (p.Glu28983=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 375565646 | RCV000269714|RCV000725274|RCV001085091|RCV001132114|RCV001129401|RCV001129402|RCV001129403|RCV001129400|RCV002227467|RCV002356373; | N | MedGen: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:C1837342 | 2 | 179423237 | 179423237 | | | 2:g.179423237T>C | ClinGen:CA1988403 | CN169374 not specified; | |
NM_001267550.2(TTN):c.86935G>A (p.Val28979Ile) | 7273 | TTN | Conflicting interpretations of pathogenicity | 201687390 | RCV000172216|RCV000221192|RCV000274973|RCV000268777|RCV000308739|RCV000333135|RCV000363372|RCV001086505|RCV002354437; | N | MedGen: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:C1863 | 2 | 179423251 | 179423251 | | | 2:g.179423251C>T | ClinGen:CA302422 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.86822-8T>G | 7273 | TTN | Uncertain significance | -1 | RCV003147843|RCV003147845|RCV003147847|RCV003147848|RCV003147844|RCV003147846; | N | 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:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|M | 2 | 179423372 | 179423372 | | | | - | | |
NM_001267550.2(TTN):c.86811A>G (p.Val28937=) | 7273 | TTN | Benign/Likely benign | 55972010 | RCV000040726|RCV000247545|RCV000280956|RCV000317088|RCV000330035|RCV000375435|RCV000371748|RCV000456727|RCV001528418; | N | MedGen: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:C2673677 | 2 | 179424048 | 179424048 | | | | ClinGen:CA283970 | | |
NM_001267550.2(TTN):c.86259A>G (p.Leu28753=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 886055233 | RCV000259283|RCV000283979|RCV000321288|RCV000354223|RCV000378376|RCV002521344|RCV003226283; | N | 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:C1863599,OMIM:603689, Orphanet:178464,Orp | 2 | 179424600 | 179424600 | | | 2:g.179424600T>C | ClinGen:CA10613037 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.86002A>G (p.Ile28668Val) | 7273 | TTN | Conflicting interpretations of pathogenicity | 72648225 | RCV000525045|RCV001134632|RCV001134633|RCV001134629|RCV001134631|RCV001134630|RCV001704925|RCV002354508|RCV003330547; | N | 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, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179424857 | 179424857 | | | 2:g.179424857T>C | ClinGen:CA310728 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.85691A>T (p.Lys28564Ile) | 7273 | TTN | Benign/Likely benign | 199859344 | RCV000040716|RCV000456289|RCV001083745|RCV001839712|RCV001839713|RCV001839715|RCV001839714|RCV002354206; | N | MedGen: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:C1837342 | 2 | 179425168 | 179425168 | | | 2:g.179425168T>A | ClinGen:CA141030 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.85516C>A (p.Gln28506Lys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 201272728 | RCV000154907|RCV000543680|RCV000621827|RCV001132347|RCV001132346|RCV001132343|RCV001132344|RCV001132345|RCV001704124; | N | MedGen: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:C1858763 | 2 | 179425343 | 179425343 | | | 2:g.179425343G>T | ClinGen:CA181675 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.85462G>A (p.Val28488Ile) | 7273 | TTN | Conflicting interpretations of pathogenicity | 377264123 | RCV000268248|RCV000272440|RCV000304731|RCV000327501|RCV000359506|RCV000538168|RCV002356452|RCV003137943; | N | 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, Orphanet:289377|MON | 2 | 179425397 | 179425397 | | | 2:g.179425397C>T | ClinGen:CA1988636 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.85449C>T (p.Ile28483=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 758811159 | RCV001133269|RCV001133270|RCV001133271|RCV001133268|RCV001134722|RCV001464460|RCV002354761; | N | 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:C1858763,OMIM:604145,O | 2 | 179425410 | 179425410 | | | 2:g.179425410G>A | - | | |
NM_001267550.2(TTN):c.85383T>C (p.Asn28461=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 886055235 | RCV000268848|RCV000293446|RCV000333216|RCV000348319|RCV000387727|RCV001471987; | N | 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:C1863599,OMIM:603689, Orphanet:178464,Orp | 2 | 179425476 | 179425476 | | | 2:g.179425476A>G | ClinGen:CA10613048 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.85334G>A (p.Cys28445Tyr) | 7273 | TTN | Uncertain significance | 773226749 | RCV001129732|RCV001129734|RCV001129731|RCV001129733|RCV000642857|RCV001129730|RCV002483832; | N | 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:0012714,MedGen:C2673677,OMIM:611705,O | 2 | 179425525 | 179425525 | | | NC_000002.11:g.179425525C>T | ClinGen:CA1988657 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.85243T>C (p.Leu28415=) | 7273 | TTN | Uncertain significance | 1703401045 | RCV001132440|RCV001132442|RCV001132441|RCV001132443|RCV001132444; | N | 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, Orphanet:289377|MON | 2 | 179425616 | 179425616 | | | 2:g.179425616A>G | - | | |
NM_001267550.2(TTN):c.84977G>A (p.Arg28326Gln) | 7273 | TTN | Conflicting interpretations of pathogenicity | 200843338 | RCV000040711|RCV000247193|RCV000305618|RCV000335949|RCV000341787|RCV000391984|RCV000406632|RCV000477567|RCV000726282|RCV001170551; | N | MedGen: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:C1837342 | 2 | 179425882 | 179425882 | | | 2:g.179425882C>T | ClinGen:CA141014 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.84945T>A (p.Thr28315=) | 7273 | TTN | Benign/Likely benign | 768116404 | RCV000869250|RCV001468778|RCV001840766|RCV001840767|RCV001840768|RCV001840769|RCV002352561; | N | 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:C1837342,OMIM:608807,Orp | 2 | 179425914 | 179425914 | | | 2:g.179425914A>T | - | | |
NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 192152102 | RCV000172223|RCV000271594|RCV000277611|RCV000308136|RCV000302023|RCV000346588|RCV000362784|RCV001082315|RCV001170553|RCV002354439; | N | MedGen: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:C18587 | 2 | 179425988 | 179425988 | | | 2:g.179425988G>A | ClinGen:CA302426 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.84696A>C (p.Glu28232Asp) | 7273 | TTN | Conflicting interpretations of pathogenicity | 397517730 | RCV000040709|RCV000274794|RCV000318173|RCV000332698|RCV000375092|RCV000387249|RCV000726293|RCV001087454|RCV002345326; | N | MedGen: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,Orp | 2 | 179426163 | 179426163 | | | 2:g.179426163T>G | ClinGen:CA141005 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.84682C>T (p.Arg28228Cys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 776756769 | RCV001129840|RCV001129841|RCV001132531|RCV001132530|RCV001132529|RCV002348572; | N | 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,OMIM:611705,Orph | 2 | 179426177 | 179426177 | | | 2:g.179426177G>A | - | | |
NM_001267550.2(TTN):c.84640A>G (p.Met28214Val) | 7273 | TTN | Conflicting interpretations of pathogenicity | 72648221 | RCV000460291|RCV000513233|RCV001132533|RCV001132534|RCV001132535|RCV001132536|RCV001132532|RCV001280557|RCV002348267|RCV003150216; | N | 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:C1863599,OMIM:603689,Orp | 2 | 179426219 | 179426219 | | | NC_000002.11:g.179426219T>C | ClinGen:CA1988755 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.84443C>G (p.Ala28148Gly) | 7273 | TTN | Conflicting interpretations of pathogenicity | 751860205 | RCV000313134|RCV000314119|RCV000344669|RCV000371371|RCV000402968; | N | 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, Orphanet:178464,Orp | 2 | 179426416 | 179426416 | | | 2:g.179426416G>C | ClinGen:CA1988775 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.84385G>T (p.Val28129Phe) | 7273 | TTN | Conflicting interpretations of pathogenicity | 752974639 | RCV000764309|RCV001129924|RCV001129926|RCV001129923|RCV001129925|RCV001134957|RCV001170780|RCV001704921; | N | 6 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, | 2 | 179426474 | 179426474 | | | 2:g.179426474C>A | ClinGen:CA310701 | CN169374 not specified; | |
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys) | 7273 | TTN | Benign/Likely benign | 56057221 | RCV000040702|RCV000248670|RCV000284840|RCV000287691|RCV000344903|RCV000376816|RCV000384418|RCV000456597|RCV000769920|RCV001528819; | N | MedGen: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:C1837342 | 2 | 179426507 | 179426507 | | | 2:g.179426507G>A | ClinGen:CA283941 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.83979T>C (p.Thr27993=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 755164013 | RCV000271528|RCV000276369|RCV000325539|RCV000382436|RCV000386022|RCV002057616; | N | 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:C1858763,OMIM:604145,O | 2 | 179426880 | 179426880 | | | 2:g.179426880A>G | ClinGen:CA1988852 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.83870G>C (p.Arg27957Thr) | 7273 | TTN | Conflicting interpretations of pathogenicity | 148067743 | RCV000040699|RCV000293712|RCV000336932|RCV000335686|RCV000375171|RCV000392066|RCV000475754|RCV000727431|RCV000852498|RCV002345323; | N | 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:0011362,MedGen:C1863599,OMIM:603689,Orp | 2 | 179426989 | 179426989 | | | 2:g.179426989C>G | ClinGen:CA140968 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.83827G>A (p.Gly27943Arg) | 7273 | TTN | Uncertain significance | 886055236 | RCV000269657|RCV000305320|RCV000308645|RCV000365690|RCV000406029; | N | 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, Orphanet:609|MON | 2 | 179427032 | 179427032 | | | 2:g.179427032C>T | ClinGen:CA10611610 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala) | 7273 | TTN | Conflicting interpretations of pathogenicity | 200775919 | RCV000040697|RCV000172229|RCV000283706|RCV000320147|RCV000341923|RCV000372050|RCV000380228|RCV000559104|RCV000620676|RCV000764310; | N | MedGen: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:00121 | 2 | 179427241 | 179427241 | | | 2:g.179427241A>G | ClinGen:CA140964 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.83600C>G (p.Pro27867Arg) | 7273 | TTN | Conflicting interpretations of pathogenicity | 374119634 | RCV001092230|RCV001135214|RCV001135216|RCV001135213|RCV001135217|RCV001135215|RCV002348553; | N | 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,MedGen:C1837342, | 2 | 179427259 | 179427259 | | | 2:g.179427259G>C | - | | |
NM_001267550.2(TTN):c.83592C>G (p.Pro27864=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 760755965 | RCV000310652|RCV000314665|RCV000341023|RCV000344977|RCV000390984|RCV000390560|RCV002521345; | N | MedGen: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:MONDO | 2 | 179427267 | 179427267 | | | 2:g.179427267G>C | ClinGen:CA1988899 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.83416C>G (p.Arg27806Gly) | 7273 | TTN | Uncertain significance | 886055237 | RCV000267760|RCV000290228|RCV000320600|RCV000360185|RCV000377723; | N | 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, Orphanet:609|MON | 2 | 179427443 | 179427443 | | | 2:g.179427443G>C | ClinGen:CA10613049 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.83315A>T (p.Asn27772Ile) | 7273 | TTN | Conflicting interpretations of pathogenicity | 578191491 | RCV000220460|RCV000302870|RCV000356701|RCV000357762|RCV000406858|RCV000402442|RCV000468138|RCV000769924|RCV001796725|RCV002345608; | N | 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:0012127,MedGen:C1837342, | 2 | 179427544 | 179427544 | | | NC_000002.11:g.179427544T>A | ClinGen:CA302890,ClinVar:424840 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.83192T>C (p.Leu27731Ser) | 7273 | TTN | Uncertain significance | 886055238 | RCV000280274|RCV000293143|RCV000333941|RCV000388554|RCV000407679; | N | 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, Orphanet:140922|MON | 2 | 179427667 | 179427667 | | | 2:g.179427667A>G | ClinGen:CA10613234 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.83059C>T (p.Leu27687=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 200992636 | RCV000307668|RCV000643502|RCV001133980|RCV001133981|RCV001133982|RCV001133979|RCV001133978|RCV001705434|RCV003165779; | N | MedGen: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, | 2 | 179427800 | 179427800 | | | 2:g.179427800G>A | ClinGen:CA1988979 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile) | 7273 | TTN | Benign/Likely benign | 56309296 | RCV000040689|RCV000253619|RCV000259436|RCV000284274|RCV000319243|RCV000332195|RCV000372601|RCV000467367|RCV000768899|RCV001530042; | N | MedGen: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:C1837342 | 2 | 179427803 | 179427803 | | | 2:g.179427803C>T | ClinGen:CA283919 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.82981C>T (p.Pro27661Ser) | 7273 | TTN | Conflicting interpretations of pathogenicity | 201422612 | RCV000285473|RCV000339356|RCV000345217|RCV000337312|RCV000379804|RCV000391200|RCV000642902|RCV002347997; | N | 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|MedGen:C3661900|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orp | 2 | 179427878 | 179427878 | | | 2:g.179427878G>A | ClinGen:CA1988990 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.82964G>A (p.Gly27655Asp) | 7273 | TTN | Uncertain significance | 373745130 | RCV000997373|RCV001130426|RCV001130422|RCV001130423|RCV001130424|RCV001130425|RCV002350443; | N | 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:0011400,MedGen:C18587 | 2 | 179427895 | 179427895 | | | 2:g.179427895C>T | ClinGen:CA1988994 | CN169374 not specified; | |
NM_001267550.2(TTN):c.82732A>G (p.Lys27578Glu) | 7273 | TTN | Conflicting interpretations of pathogenicity | 368850871 | RCV000314233|RCV000336400|RCV000356273|RCV000406935|RCV000406888|RCV000592500; | N | 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, Orphanet:178464, | 2 | 179428127 | 179428127 | | | 2:g.179428127T>C | ClinGen:CA1989024 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.82692G>A (p.Ala27564=) | 7273 | TTN | Benign/Likely benign | 557628408 | RCV000216906|RCV000873232|RCV001529462|RCV001840360|RCV001840361|RCV001840362|RCV001840363|RCV002347836|RCV002494565; | N | MedGen: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:C1837342 | 2 | 179428167 | 179428167 | | | 2:g.179428167C>T | ClinGen:CA1989028 | CN169374 not specified; | |
NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val) | 7273 | TTN | Conflicting interpretations of pathogenicity | 55634791 | RCV000040686|RCV000267329|RCV000302688|RCV000327142|RCV000362027|RCV000363058|RCV000724925|RCV001427304|RCV001798184|RCV002345320; | N | MedGen: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, | 2 | 179428168 | 179428168 | | | 2:g.179428168G>A | UniProtKB:Q8WZ42#VAR_040270,ClinGen:CA140936 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.82658G>C (p.Gly27553Ala) | 7273 | TTN | Uncertain significance | 753766297 | RCV000278055|RCV000284042|RCV000338036|RCV000339140|RCV000407739|RCV002487469; | N | 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:C1858763,OMIM:604145,O | 2 | 179428201 | 179428201 | | | 2:g.179428201C>G | ClinGen:CA1989031 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.82497C>T (p.Thr27499=) | 7273 | TTN | Benign/Likely benign | 199629314 | RCV000040683|RCV000231094|RCV000287495|RCV000319388|RCV000341413|RCV000376463|RCV000400112|RCV000768903|RCV001528651|RCV002345319; | N | 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:0011400,MedGen:C1858763,OMIM:604145,Orp | 2 | 179428362 | 179428362 | | | | ClinGen:CA283899 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.82408C>A (p.Pro27470Thr) | 7273 | TTN | Uncertain significance | 886055239 | RCV000310018|RCV000315326|RCV000344759|RCV000348375|RCV000391282|RCV002348077; | N | 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, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179428451 | 179428451 | | | 2:g.179428451G>T | ClinGen:CA10613238 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.82402A>C (p.Lys27468Gln) | 7273 | TTN | Conflicting interpretations of pathogenicity | 201958805 | RCV000040681|RCV000300172|RCV000322064|RCV000357436|RCV000353764|RCV000456607|RCV000768905|RCV000787943|RCV000997376|RCV002345318; | N | MedGen: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,Orp | 2 | 179428457 | 179428457 | | | NC_000002.11:g.179428457T>G | ClinGen:CA140922 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.82385C>A (p.Thr27462Lys) | 7273 | TTN | Benign/Likely benign | 55933739 | RCV000040680|RCV000206472|RCV000251636|RCV000290881|RCV000326051|RCV000348003|RCV000378955|RCV000382877|RCV000768906|RCV001084402|RCV002496649; | N | MedGen: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:0011362 | 2 | 179428474 | 179428474 | | | 2:g.179428474G>T | ClinGen:CA283894 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.82328G>A (p.Arg27443His) | 7273 | TTN | Uncertain significance | 551496477 | RCV000509369|RCV000734999; | N | MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MedGen:CN517202 | 2 | 179428531 | 179428531 | | | 2:g.179428531C>T | ClinGen:CA60987121 | C1838244 600334 Distal myopathy Markesbery-Griggs type; | |
NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 201489661 | RCV000172237|RCV000259150|RCV000296920|RCV000335482|RCV000294267|RCV000351562|RCV000386155|RCV001085422|RCV002345592|RCV003150040; | N | MedGen: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, | 2 | 179428624 | 179428624 | | | 2:g.179428624G>T | ClinGen:CA302434 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.82133A>C (p.Lys27378Thr) | 7273 | TTN | Uncertain significance | 886055240 | RCV000268986|RCV000326430|RCV000330270|RCV000383420|RCV000387086|RCV002348078; | N | 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,OMIM:604145,O | 2 | 179428726 | 179428726 | | | 2:g.179428726T>G | ClinGen:CA10613242 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.82081C>G (p.Pro27361Ala) | 7273 | TTN | Benign/Likely benign | 56137800 | RCV000040677|RCV000172629|RCV000241922|RCV000280957|RCV000295120|RCV000338290|RCV000373133|RCV000402006|RCV000768907|RCV000852806|RCV001082298; | N | MedGen: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:0011 | 2 | 179428778 | 179428778 | | | 2:g.179428778G>C | ClinGen:CA140908 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.82070C>G (p.Thr27357Arg) | 7273 | TTN | Conflicting interpretations of pathogenicity | 754175266 | RCV000687721|RCV001131503|RCV001131500|RCV001131501|RCV001131502|RCV001131504|RCV001289396; | N | 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, Orphanet:140922|MON | 2 | 179428789 | 179428789 | | | 2:g.179428789G>C | - | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.82021C>T (p.Arg27341Trp) | 7273 | TTN | Uncertain significance | 746488250 | RCV000600711|RCV001131505|RCV001134495|RCV001134494|RCV001134496|RCV001134493|RCV002266991; | N | 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:C1863599,OMIM:603689,Orp | 2 | 179428838 | 179428838 | | | 2:g.179428838G>A | ClinGen:CA1989126 | CN169374 not specified; | |
NM_001267550.2(TTN):c.82019T>A (p.Ile27340Lys) | 7273 | TTN | Uncertain significance | 371592971 | RCV000472297|RCV001809344; | N | 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 | 2 | 179428840 | 179428840 | | | NC_000002.11:g.179428840A>T | ClinGen:CA1989127 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.81938G>A (p.Gly27313Glu) | 7273 | TTN | Conflicting interpretations of pathogenicity | 199670463 | RCV000152203|RCV000274661|RCV000260100|RCV000332173|RCV000366979|RCV000370450|RCV000643482|RCV000768909|RCV001704096|RCV002345480; | N | MedGen: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:C18587 | 2 | 179428921 | 179428921 | | | 2:g.179428921C>T | ClinGen:CA178475 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.81892G>A (p.Asp27298Asn) | 7273 | TTN | Conflicting interpretations of pathogenicity | 200697681 | RCV000172630|RCV000768911|RCV001128964|RCV001135948|RCV001088746|RCV001128965|RCV001135949|RCV001128966|RCV002345597; | N | 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:0011400,MedGen:C1858763,OMIM:604145, Orphanet:154|MONDO:MONDO:0011400,MedGen: | 2 | 179428967 | 179428967 | | | 2:g.179428967C>T | ClinGen:CA238471 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.81600C>G (p.Ser27200Arg) | 7273 | TTN | Uncertain significance | 773107849 | RCV001131630|RCV001131629|RCV001131631|RCV001131632|RCV001131633; | N | 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:C1858763,OMIM:604145,O | 2 | 179429259 | 179429259 | | | 2:g.179429259G>C | - | | |
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 56181243 | RCV000040669|RCV000243142|RCV000289639|RCV000311788|RCV000343025|RCV000392160|RCV000401208|RCV000756835|RCV000768912|RCV001083853; | N | MedGen: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:00114 | 2 | 179429301 | 179429301 | | | 2:g.179429301A>G | ClinGen:CA283879 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.81523G>A (p.Gly27175Ser) | 7273 | TTN | Conflicting interpretations of pathogenicity | 749305586 | RCV000261667|RCV000315436|RCV000319078|RCV000354170|RCV000368850; | N | 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:C1858763,OMIM:604145,O | 2 | 179429336 | 179429336 | | | 2:g.179429336C>T | ClinGen:CA1989198 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.81373A>C (p.Thr27125Pro) | 7273 | TTN | Uncertain significance | 1362825687 | RCV001132656|RCV001136040|RCV001136037|RCV001136038|RCV001136039; | N | 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:C1837342,OMIM:608807,O | 2 | 179429486 | 179429486 | | | 2:g.179429486T>G | - | | |
NM_001267550.2(TTN):c.81217C>T (p.Pro27073Ser) | 7273 | TTN | Conflicting interpretations of pathogenicity | 542799302 | RCV000287717|RCV000322724|RCV000326365|RCV000357556|RCV000379772; | N | 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:0011400,MedGen:C1858763,OMIM:604145,O | 2 | 179429642 | 179429642 | | | 2:g.179429642G>A | ClinGen:CA1989238 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.81105C>A (p.Thr27035=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 72648212 | RCV000040665|RCV000620096|RCV000726275|RCV001080788|RCV001129079|RCV001129078|RCV001131746|RCV001131748|RCV001131747|RCV001170787; | N | MedGen: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:0012714 | 2 | 179429754 | 179429754 | | | | ClinGen:CA283874 | | |
NM_001267550.2(TTN):c.81017G>T (p.Ser27006Ile) | 7273 | TTN | Uncertain significance | 886055241 | RCV000279918|RCV000334875|RCV000338510|RCV000374431|RCV000383331; | N | 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:C1858763,OMIM:604145, Orphanet:154|MON | 2 | 179429842 | 179429842 | | | 2:g.179429842C>A | ClinGen:CA10612033 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.80983G>A (p.Glu26995Lys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 397517719 | RCV000040663|RCV000617992|RCV000726121|RCV001079917|RCV001132748|RCV001132749|RCV001132747|RCV001136160|RCV001136159|RCV001798182; | N | MedGen: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:0011400 | 2 | 179429876 | 179429876 | | | 2:g.179429876C>T | ClinGen:CA140873 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.80904C>T (p.Ile26968=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 539234338 | RCV000262837|RCV000318137|RCV000351987|RCV000372731|RCV000387307|RCV002348079|RCV002521346; | N | 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, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179429955 | 179429955 | | | 2:g.179429955G>A | ClinGen:CA1989281 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.80890A>G (p.Asn26964Asp) | 7273 | TTN | Uncertain significance | 886055242 | RCV000292961|RCV000344296|RCV000347860|RCV000398429|RCV000408343; | N | 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, Orphanet:609|MON | 2 | 179429969 | 179429969 | | | 2:g.179429969T>C | ClinGen:CA10613063 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.80882C>T (p.Ala26961Val) | 7273 | TTN | Conflicting interpretations of pathogenicity | 749194310 | RCV000261531|RCV000265016|RCV000297529|RCV000304573|RCV000301478|RCV000356308|RCV000526427|RCV001798768|RCV002347988; | N | MONDO: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, | 2 | 179429977 | 179429977 | | | 2:g.179429977G>A | ClinGen:CA1989287 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met) | 7273 | TTN | Conflicting interpretations of pathogenicity | 377506142 | RCV000155780|RCV000172245|RCV000254311|RCV000291098|RCV000316713|RCV000330851|RCV000371276|RCV000385420|RCV001078567|RCV001170788|RCV001293186; | N | MedGen: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|M | 2 | 179430001 | 179430001 | | | 2:g.179430001G>A | ClinGen:CA183467 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.80854G>A (p.Val26952Ile) | 7273 | TTN | Conflicting interpretations of pathogenicity | 371362606 | RCV000176798|RCV000287638|RCV000284771|RCV000327344|RCV000342639|RCV000401115|RCV000464328|RCV001778772|RCV002345609; | N | 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:0011400,MedGen:C18587 | 2 | 179430005 | 179430005 | | | 2:g.179430005C>T | ClinGen:CA242835 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val) | 7273 | TTN | Conflicting interpretations of pathogenicity | 201562505 | RCV000152207|RCV000273789|RCV000325455|RCV000270152|RCV000364915|RCV000369763|RCV000471832|RCV000617421|RCV000769931|RCV000852807|RCV001249283|RCV001530137; | N | 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|MONDO:MONDO:0012127,MedGen:C1837342, | 2 | 179430158 | 179430158 | | | 2:g.179430158T>C | ClinGen:CA248764 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.80586C>T (p.Ser26862=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 748292845 | RCV000278202|RCV000312374|RCV000367597|RCV000399453|RCV000401256|RCV000445100|RCV000727491|RCV001086740|RCV002348080; | N | 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:C1858763,OMIM:604145,O | 2 | 179430273 | 179430273 | | | 2:g.179430273G>A | ClinGen:CA1989326 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.80554C>T (p.Arg26852Cys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 185887755 | RCV000259093|RCV000723773|RCV001132948|RCV001132950|RCV001132946|RCV001132947|RCV001132949|RCV002345491; | N | MedGen: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, | 2 | 179430305 | 179430305 | | | 2:g.179430305G>A | ClinGen:CA295646 | CN169374 not specified; | |
NM_001267550.2(TTN):c.80484C>G (p.Ser26828Arg) | 7273 | TTN | Uncertain significance | 886055243 | RCV000262505|RCV000265841|RCV000317678|RCV000372563|RCV000375943; | N | 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,OMIM:611705,Orph | 2 | 179430375 | 179430375 | | | 2:g.179430375G>C | ClinGen:CA10611616 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.80145C>G (p.Val26715=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 761074887 | RCV000285641|RCV000331440|RCV000343928|RCV000382160|RCV000383423|RCV000769936; | N | 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:0012127,MedGen:C1837342,OMIM:608807,O | 2 | 179430714 | 179430714 | | | 2:g.179430714G>C | ClinGen:CA1989386 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.79885G>C (p.Glu26629Gln) | 7273 | TTN | Uncertain significance | 727504673 | RCV000155941|RCV001132238|RCV001132240|RCV001132239|RCV001132241|RCV001132237|RCV002478460|RCV003137673; | N | MedGen: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:C26736 | 2 | 179430974 | 179430974 | | | 2:g.179430974C>G | ClinGen:CA183828 | CN169374 not specified; | |
NM_001267550.2(TTN):c.79856G>A (p.Arg26619His) | 7273 | TTN | Conflicting interpretations of pathogenicity | 530507211 | RCV000184862|RCV000270696|RCV000283370|RCV000322095|RCV000323369|RCV000380163|RCV001085916|RCV002345656; | N | 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:0012127,MedGen:C1837342, | 2 | 179431003 | 179431003 | | | 2:g.179431003C>T | ClinGen:CA310617 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.79599_79621del (p.Glu26533fs) | 7273 | TTN | Likely pathogenic | 1312613088 | RCV001199156; | N | MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609 | 2 | 179431238 | 179431260 | | | 2:g.179431238_179431260del | - | | |
NM_001267550.2(TTN):c.79265T>C (p.Ile26422Thr) | 7273 | TTN | Benign/Likely benign | 3731745 | RCV000040643|RCV000241932|RCV000266045|RCV000324814|RCV000318828|RCV000358458|RCV000375690|RCV000473269|RCV000993490; | N | MedGen: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:00114 | 2 | 179431594 | 179431594 | | | 2:g.179431594A>G | ClinGen:CA283818 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.79106T>C (p.Val26369Ala) | 7273 | TTN | Uncertain significance | 1706144836 | RCV001129735|RCV001129736|RCV001129737|RCV001129738|RCV001132448; | N | 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,OMIM:608807,Orph | 2 | 179431753 | 179431753 | | | 2:g.179431753A>G | - | | |
NM_001267550.2(TTN):c.79103G>T (p.Gly26368Val) | 7273 | TTN | Uncertain significance | 371325635 | RCV000243973|RCV001132450|RCV001132451|RCV001132452|RCV001132453|RCV001132449; | N | 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:0011400,MedGen:C18587 | 2 | 179431756 | 179431756 | | | 2:g.179431756C>A | ClinGen:CA10587474 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.79062T>A (p.Gly26354=) | 7273 | TTN | Benign | 3731744 | RCV000040640|RCV000250059|RCV000263297|RCV000276164|RCV000303168|RCV000355750|RCV000354107|RCV000470851; | N | MedGen: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:00121 | 2 | 179431797 | 179431797 | | | | ClinGen:CA283813 | | |
NM_001267550.2(TTN):c.78991C>A (p.Arg26331=) | 7273 | TTN | Benign/Likely benign | 779996703 | RCV000610493|RCV001511261|RCV001840701|RCV001840702|RCV001840703|RCV001840704|RCV002491277; | N | 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:C1837342,OMIM:608807,Orp | 2 | 179431868 | 179431868 | | | 2:g.179431868G>T | ClinGen:CA1989541 | CN169374 not specified; | |
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 139953862 | RCV000152211|RCV000299956|RCV000287130|RCV000345493|RCV000339540|RCV000379204|RCV000725001|RCV001079314|RCV002336301|RCV003149924; | N | MedGen: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, | 2 | 179432004 | 179432004 | | | 2:g.179432004A>G | ClinGen:CA178495 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.78774A>G (p.Arg26258=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 368270588 | RCV000154914|RCV000725849|RCV001129843|RCV001129842|RCV001129844|RCV001129845|RCV001129846|RCV001426417|RCV002336325; | N | MedGen: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:00127 | 2 | 179432085 | 179432085 | | | 2:g.179432085T>C | ClinGen:CA181703 | CN169374 not specified; | |
NM_001267550.2(TTN):c.78662C>T (p.Pro26221Leu) | 7273 | TTN | Uncertain significance | 912454417 | RCV001133453|RCV001133454|RCV001133455|RCV001133456|RCV001133457|RCV002480508; | N | 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:C2673677,OMIM:611705,O | 2 | 179432197 | 179432197 | | | 2:g.179432197G>A | - | | |
NM_001267550.2(TTN):c.78654T>C (p.His26218=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 886055244 | RCV000272128|RCV000321296|RCV000329566|RCV000368961|RCV000381870|RCV002057617|RCV002338921; | N | 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, Orphanet:140922|MON | 2 | 179432205 | 179432205 | | | 2:g.179432205A>G | ClinGen:CA10612039 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.78401G>A (p.Arg26134His) | 7273 | TTN | Conflicting interpretations of pathogenicity | 377668457 | RCV000282564|RCV000336442|RCV000337388|RCV000372311|RCV000380556|RCV002348081|RCV003137944; | N | 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, Orphanet:154|MON | 2 | 179432458 | 179432458 | | | 2:g.179432458C>T | ClinGen:CA1989607 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.78382C>T (p.Arg26128Cys) | 7273 | TTN | Uncertain significance | 373530641 | RCV001129927|RCV001129928|RCV001129929|RCV001130630|RCV001130631; | N | 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, Orphanet:140922|MON | 2 | 179432477 | 179432477 | | | 2:g.179432477G>A | - | | |
NM_001267550.2(TTN):c.78371T>A (p.Ile26124Asn) | 7273 | TTN | Conflicting interpretations of pathogenicity | 778290450 | RCV000292975|RCV000301078|RCV000362867|RCV000352547|RCV000397609|RCV000643214|RCV000400050|RCV001798772|RCV002338838; | N | MONDO: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, | 2 | 179432488 | 179432488 | | | 2:g.179432488A>T | ClinGen:CA1989615 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.78193G>A (p.Val26065Met) | 7273 | TTN | Uncertain significance | 1371536406 | RCV001130632|RCV001133587|RCV001133588|RCV001133589|RCV001133586; | N | 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, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179432666 | 179432666 | | | 2:g.179432666C>T | - | | |
NM_001267550.2(TTN):c.77913T>C (p.Tyr25971=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 72648203 | RCV000613190|RCV000643038|RCV001133590|RCV001133591|RCV001135078|RCV001133592|RCV001133593|RCV001719124|RCV002334014; | N | 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:0011400,MedGen:C1858763,OMIM:604145,Orp | 2 | 179432946 | 179432946 | | | 2:g.179432946A>G | ClinGen:CA1989691 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.77813G>C (p.Trp25938Ser) | 7273 | TTN | Conflicting interpretations of pathogenicity | 186681106 | RCV000040631|RCV000264343|RCV000324153|RCV000359085|RCV000360289|RCV000389951|RCV000476610|RCV000768918|RCV001081320|RCV002336150; | N | MedGen: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, | 2 | 179433046 | 179433046 | | | 2:g.179433046C>G | ClinGen:CA140792 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 56341835 | RCV000118781|RCV000154916|RCV000260854|RCV000280942|RCV000316126|RCV000375446|RCV000385773|RCV001081879|RCV002336260; | N | MedGen: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:C1837342 | 2 | 179433143 | 179433143 | | | 2:g.179433143C>T | ClinGen:CA181709 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.77649C>T (p.Ile25883=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 747430905 | RCV000287862|RCV000296139|RCV000350957|RCV000347468|RCV000397141|RCV001497900; | N | 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, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179433210 | 179433210 | | | 2:g.179433210G>A | ClinGen:CA1989736 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.77639C>T (p.Thr25880Ile) | 7273 | TTN | Uncertain significance | 1332594097 | RCV001133728|RCV001135218|RCV001135221|RCV001135219|RCV001135220|RCV003142067; | N | 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, Orphanet:178464,Orp | 2 | 179433220 | 179433220 | | | 2:g.179433220G>A | - | | |
NM_001267550.2(TTN):c.77561C>T (p.Thr25854Ile) | 7273 | TTN | Uncertain significance | 886055245 | RCV000274216|RCV000289633|RCV000318714|RCV000334093|RCV000368890|RCV000388578; | N | 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:CN239352|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705, Orphanet:28 | 2 | 179433298 | 179433298 | | | 2:g.179433298G>A | ClinGen:CA10611617 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.77249G>A (p.Arg25750Gln) | 7273 | TTN | Conflicting interpretations of pathogenicity | 368038362 | RCV000176815|RCV000617448|RCV000768920|RCV001130187|RCV001130188|RCV001130888|RCV001130889|RCV001130890; | N | MedGen: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:MONDO | 2 | 179433610 | 179433610 | | | 2:g.179433610C>T | ClinGen:CA242859 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.77205G>A (p.Val25735=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 55857909 | RCV000040625|RCV000618047|RCV000714098|RCV001086724|RCV001130893|RCV001130895|RCV001130891|RCV001130892|RCV001130894; | N | MedGen: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:0012127 | 2 | 179433654 | 179433654 | | | 2:g.179433654C>T | ClinGen:CA140774 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His) | 7273 | TTN | Conflicting interpretations of pathogenicity | 369707906 | RCV000223093|RCV000297719|RCV000312841|RCV000338766|RCV000342317|RCV000398493|RCV000395107|RCV000714096|RCV000852810|RCV001079555|RCV002336490|RCV003150073; | N | MedGen: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:34 | 2 | 179433937 | 179433937 | | | 2:g.179433937C>T | ClinGen:CA310554 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.76803G>A (p.Thr25601=) | 7273 | TTN | Benign/Likely benign | 751627427 | RCV000608361|RCV001493888|RCV001840713|RCV001840715|RCV001840714|RCV001840716; | N | 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:C1863599,OMIM:603689,Orp | 2 | 179434056 | 179434056 | | | 2:g.179434056C>T | ClinGen:CA1989856 | CN169374 not specified; | |
NM_001267550.2(TTN):c.76673A>T (p.Asp25558Val) | 7273 | TTN | Conflicting interpretations of pathogenicity | 201095164 | RCV000040618|RCV000172252|RCV000271372|RCV000303107|RCV000306562|RCV000365850|RCV000400010|RCV001085393|RCV003448252; | N | MedGen: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:C1863 | 2 | 179434186 | 179434186 | | | 2:g.179434186T>A | ClinGen:CA140756 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.76483G>A (p.Val25495Ile) | 7273 | TTN | Conflicting interpretations of pathogenicity | 773127796 | RCV000887823|RCV001130428|RCV001087517|RCV001135506|RCV001135504|RCV001130427|RCV001135505; | N | 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:0011400,MedGen:C1858763,OMIM:604145,Orp | 2 | 179434376 | 179434376 | | | 2:g.179434376C>T | - | | |
NM_001267550.2(TTN):c.76343G>A (p.Ser25448Asn) | 7273 | TTN | Benign/Likely benign | 3813243 | RCV000040617|RCV000251680|RCV000260021|RCV000323200|RCV000319913|RCV000373158|RCV000374452|RCV000460556; | N | MedGen: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:00127 | 2 | 179434516 | 179434516 | | | 2:g.179434516C>T | ClinGen:CA283776 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.75983C>T (p.Pro25328Leu) | 7273 | TTN | Uncertain significance | 758581188 | RCV000263672|RCV000276395|RCV000299127|RCV000356101|RCV000368925; | N | 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, Orphanet:178464,Orp | 2 | 179434876 | 179434876 | | | 2:g.179434876G>A | ClinGen:CA1989973 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.75977A>G (p.Glu25326Gly) | 7273 | TTN | Uncertain significance | 767430531 | RCV001135608|RCV001135609|RCV001135610|RCV001135611|RCV001135612|RCV003142071; | N | 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, Orphanet:178464,Orp | 2 | 179434882 | 179434882 | | | 2:g.179434882T>C | - | | |
NM_001267550.2(TTN):c.75969T>C (p.Val25323=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 368759398 | RCV000283572|RCV000289220|RCV000328072|RCV000333780|RCV000381301|RCV000427377|RCV000866981|RCV002328851|RCV003137945; | N | 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, Orphanet:289377|MON | 2 | 179434890 | 179434890 | | | 2:g.179434890A>G | ClinGen:CA1989975 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.75706G>A (p.Asp25236Asn) | 7273 | TTN | Uncertain significance | 1707754880 | RCV001131276|RCV001134231|RCV001134232|RCV001134233|RCV001134234; | N | 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, Orphanet:154|MON | 2 | 179435153 | 179435153 | | | 2:g.179435153C>T | - | | |
NM_001267550.2(TTN):c.75634G>C (p.Val25212Leu) | 7273 | TTN | Uncertain significance | 1707781335 | RCV001134235|RCV001134237|RCV001134236|RCV001134238|RCV001135735; | N | 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:C2673677,OMIM:611705,O | 2 | 179435225 | 179435225 | | | 2:g.179435225C>G | - | | |
NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn) | 7273 | TTN | Conflicting interpretations of pathogenicity | 192468365 | RCV000214060|RCV000325463|RCV000277330|RCV000312104|RCV000369619|RCV000400221|RCV000474321|RCV000731447|RCV002338688|RCV003448289; | N | MedGen: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:C26736 | 2 | 179435369 | 179435369 | | | 2:g.179435369C>T | ClinGen:CA1990042 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.75366G>A (p.Val25122=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 750424357 | RCV001134373|RCV001134374|RCV001134375|RCV001134372|RCV001134376|RCV002327407|RCV002556874; | N | 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, Orphanet:609|MON | 2 | 179435493 | 179435493 | | | 2:g.179435493C>T | - | | |
NM_001267550.2(TTN):c.75194A>G (p.His25065Arg) | 7273 | TTN | Conflicting interpretations of pathogenicity | 182161195 | RCV000315306|RCV000344514|RCV000365719|RCV000393320|RCV000401598|RCV000862066; | N | 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:C2673677,OMIM:611705,O | 2 | 179435665 | 179435665 | | | 2:g.179435665T>C | ClinGen:CA1990089 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.75158G>C (p.Trp25053Ser) | 7273 | TTN | Conflicting interpretations of pathogenicity | 748412838 | RCV000264049|RCV000268546|RCV000316644|RCV000359836|RCV000373706|RCV003137946; | N | 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, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179435701 | 179435701 | | | 2:g.179435701C>G | ClinGen:CA1990091 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.75053T>C (p.Val25018Ala) | 7273 | TTN | Uncertain significance | 745832906 | RCV000714091|RCV001134498|RCV001134499|RCV001134500|RCV001134501|RCV001134497|RCV002334405|RCV002485797; | N | 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:C1858763,OMIM:604145, | 2 | 179435806 | 179435806 | | | NC_000002.11:g.179435806A>G | - | | |
NM_001267550.2(TTN):c.75034C>T (p.Arg25012Trp) | 7273 | TTN | Conflicting interpretations of pathogenicity | 368914555 | RCV000040605|RCV000464020|RCV001093053|RCV001134502|RCV001134504|RCV001134503|RCV001135950|RCV001135951|RCV001171268|RCV001293087|RCV002336148; | N | MedGen: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:C1858763 | 2 | 179435825 | 179435825 | | | 2:g.179435825G>A | ClinGen:CA140718 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr) | 7273 | TTN | Benign/Likely benign | 744427 | RCV000040603|RCV000262739|RCV000294360|RCV000351576|RCV000386214|RCV000389508|RCV000465153|RCV000621310|RCV001530008; | N | MedGen: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, | 2 | 179435887 | 179435887 | | | 2:g.179435887A>G | ClinGen:CA283749 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.74961C>T (p.Asn24987=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 754043680 | RCV000215599|RCV001128967|RCV001128968|RCV001128969|RCV001128970|RCV001135952|RCV001495271|RCV002338674; | N | MedGen: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,Orp | 2 | 179435898 | 179435898 | | | 2:g.179435898G>A | ClinGen:CA1990121 | CN169374 not specified; | |
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly) | 7273 | TTN | Conflicting interpretations of pathogenicity | 573415766 | RCV000216300|RCV000284422|RCV000396489|RCV000278714|RCV000328950|RCV000341722|RCV000376348|RCV000725210|RCV001086254; | N | MedGen: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|H | 2 | 179436310 | 179436310 | | | 2:g.179436310T>C | ClinGen:CA1990181 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.74508T>C (p.Asp24836=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 1060503924 | RCV000463302|RCV001129083|RCV001129084|RCV001129085|RCV001129086|RCV001129082|RCV002341067; | N | 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, Orphanet:140922|MON | 2 | 179436351 | 179436351 | | | NC_000002.11:g.179436351A>G | ClinGen:CA16610308 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.74339G>A (p.Arg24780Gln) | 7273 | TTN | Uncertain significance | 776673912 | RCV000555738|RCV001129087|RCV001131757|RCV001131755|RCV001131754|RCV001131756|RCV002476169|RCV003139825; | N | 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, Orphanet:178464,Orp | 2 | 179436520 | 179436520 | | | 2:g.179436520C>T | ClinGen:CA1990209 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.74190T>G (p.Gly24730=) | 7273 | TTN | Benign/Likely benign | 201797603 | RCV000242851|RCV001171274|RCV001840441|RCV001840440|RCV001840442|RCV001840443; | N | MedGen: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,MedG | 2 | 179436669 | 179436669 | | | NC_000002.11:g.179436669A>C | ClinGen:CA1990241 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln) | 7273 | TTN | Conflicting interpretations of pathogenicity | 55762754 | RCV000040592|RCV000247787|RCV000301041|RCV000314072|RCV000336155|RCV000367543|RCV000396511|RCV000458685|RCV000769945|RCV001083733|RCV002223143; | N | MedGen: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:00114 | 2 | 179437034 | 179437034 | | | 2:g.179437034C>G | ClinGen:CA140683,UniProtKB:Q8WZ42#VAR_040239 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.73776G>A (p.Arg24592=) | 7273 | TTN | Uncertain significance | 886055247 | RCV000273551|RCV000319157|RCV000332127|RCV000368108|RCV000371073; | N | 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:C1863599,OMIM:603689, Orphanet:178464, | 2 | 179437083 | 179437083 | | | 2:g.179437083C>T | ClinGen:CA10611618 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.73563C>G (p.Gly24521=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 756809007 | RCV000290915|RCV000315489|RCV000345857|RCV000369773|RCV000406615|RCV002057620|RCV002338924; | N | 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, Orphanet:609|MON | 2 | 179437296 | 179437296 | | | 2:g.179437296G>C | ClinGen:CA1990351 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.73517G>A (p.Gly24506Asp) | 7273 | TTN | Conflicting interpretations of pathogenicity | 567446185 | RCV000528939|RCV000610035|RCV001131868|RCV001131871|RCV001131869|RCV001131870|RCV001131872|RCV001571924; | N | 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:0011362,MedGen:C1863599,OMIM:603689,Orp | 2 | 179437342 | 179437342 | | | NC_000002.11:g.179437342C>T | ClinGen:CA1990358 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.73491T>C (p.Tyr24497=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 545377175 | RCV001131873|RCV001132856|RCV001132858|RCV001132855|RCV001132857|RCV001702879|RCV002327406|RCV001439876|RCV001700975; | N | 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:C1837342,OMIM:608807,O | 2 | 179437368 | 179437368 | | | 2:g.179437368A>G | - | | |
NM_001267550.2(TTN):c.73304G>A (p.Arg24435His) | 7273 | TTN | Uncertain significance | 794727456 | RCV000176833|RCV000298781|RCV000311590|RCV000353719|RCV000357020|RCV000394646|RCV002503678; | N | 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:C1837342,OMIM:608807,Orp | 2 | 179437555 | 179437555 | | | 2:g.179437555C>T | ClinGen:CA242892 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.73124C>T (p.Pro24375Leu) | 7273 | TTN | Uncertain significance | 376041680 | RCV000215178|RCV001129293|RCV001129294|RCV001129295|RCV001136275|RCV001136276|RCV001556870|RCV002500719; | N | MedGen: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, | 2 | 179437735 | 179437735 | | | 2:g.179437735G>A | ClinGen:CA1990418 | CN169374 not specified; | |
NM_001267550.2(TTN):c.72906T>A (p.Ala24302=) | 7273 | TTN | Benign/Likely benign | 773886758 | RCV000327146|RCV000643622|RCV001705428|RCV001840476|RCV001840477|RCV001840478|RCV001840479|RCV002338851; | N | MedGen: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:C1837342 | 2 | 179437953 | 179437953 | | | 2:g.179437953A>T | ClinGen:CA1990440 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.72782G>A (p.Arg24261Gln) | 7273 | TTN | Conflicting interpretations of pathogenicity | 142874389 | RCV000040587|RCV000172641|RCV000288602|RCV000343679|RCV000349884|RCV000388861|RCV000397203|RCV001080138|RCV002336145|RCV003149657; | N | MedGen: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:C1858 | 2 | 179438077 | 179438077 | | | 2:g.179438077C>T | ClinGen:CA140664 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.72766A>G (p.Asn24256Asp) | 7273 | TTN | Conflicting interpretations of pathogenicity | 187868672 | RCV000265766|RCV000300684|RCV000337171|RCV000361406|RCV000397204|RCV000725272|RCV001081316|RCV002227452|RCV002326968; | N | 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, Orphanet:178464,Orp | 2 | 179438093 | 179438093 | | | 2:g.179438093T>C | ClinGen:CA302882 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.72624A>G (p.Pro24208=) | 7273 | TTN | Benign/Likely benign | 56293906 | RCV000040586|RCV000228478|RCV000271701|RCV000277214|RCV000326784|RCV000366295|RCV000381449|RCV000619087|RCV000769953|RCV001528463; | N | MedGen: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, | 2 | 179438235 | 179438235 | | | | ClinGen:CA283734 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.72497G>A (p.Ser24166Asn) | 7273 | TTN | Uncertain significance | 886055248 | RCV000279251|RCV000292381|RCV000332217|RCV000337910|RCV000386688; | N | 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, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179438362 | 179438362 | | | 2:g.179438362C>T | ClinGen:CA10613083 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.72487C>T (p.Arg24163Cys) | 7273 | TTN | Uncertain significance | 778284888 | RCV000544029|RCV001132121|RCV001132117|RCV001132118|RCV001132119|RCV001132120|RCV002279349|RCV002491049; | N | 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, Orphanet:154|MONDO: | 2 | 179438372 | 179438372 | | | NC_000002.11:g.179438372G>A | ClinGen:CA61000018 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.72379G>A (p.Glu24127Lys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 149763294 | RCV000040582|RCV000285232|RCV000310657|RCV000334264|RCV000396450|RCV000403418|RCV000725033|RCV001083817|RCV001170337|RCV002336144; | N | MedGen: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, | 2 | 179438480 | 179438480 | | | 2:g.179438480C>T | ClinGen:CA140644 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.72232A>G (p.Ile24078Val) | 7273 | TTN | Uncertain significance | 876658080 | RCV000222008|RCV000276789|RCV000365314|RCV000396307|RCV000307396|RCV000331394|RCV000642733|RCV000725805; | N | MedGen: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,Orp | 2 | 179438627 | 179438627 | | | 2:g.179438627T>C | ClinGen:CA10576487 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.72226T>G (p.Leu24076Val) | 7273 | TTN | Conflicting interpretations of pathogenicity | 202098308 | RCV001129506|RCV001129505|RCV001129507|RCV001136491|RCV001136492|RCV002327404|RCV001532418; | N | 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:C2673677,OMIM:611705,O | 2 | 179438633 | 179438633 | | | 2:g.179438633A>C | - | | |
NM_001267550.2(TTN):c.72166C>A (p.Arg24056Ser) | 7273 | TTN | Uncertain significance | 372662393 | RCV000263422|RCV000278981|RCV000318621|RCV000324714|RCV000367334; | N | 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, Orphanet:140922|MON | 2 | 179438693 | 179438693 | | | 2:g.179438693G>T | ClinGen:CA10611620 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.72149A>G (p.Glu24050Gly) | 7273 | TTN | Conflicting interpretations of pathogenicity | 771209223 | RCV001132246|RCV001132242|RCV001132243|RCV001132244|RCV001132245|RCV003142064; | N | 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,OMIM:611705,Orph | 2 | 179438710 | 179438710 | | | 2:g.179438710T>C | - | | |
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro) | 7273 | TTN | Conflicting interpretations of pathogenicity | 56399205 | RCV000172264|RCV000248880|RCV000259146|RCV000282942|RCV000288822|RCV000379211|RCV000347355|RCV000404979|RCV000769955|RCV000852813|RCV001084205|RCV002227932; | N | MedGen: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|MOND | 2 | 179438713 | 179438713 | | | 2:g.179438713A>G | ClinGen:CA302449 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 56169243 | RCV000040578|RCV000205454|RCV000249434|RCV000300762|RCV000313330|RCV000355560|RCV000393450|RCV000393452|RCV001081981|RCV001170340|RCV002226451; | N | MedGen: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:0011362 | 2 | 179438727 | 179438727 | | | | ClinGen:CA283729 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.71993G>A (p.Arg23998His) | 7273 | TTN | Benign | 10164753 | RCV000040575|RCV000245379|RCV000292464|RCV000334510|RCV000349621|RCV000398105|RCV000401948|RCV001517436; | N | MedGen: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:00127 | 2 | 179438866 | 179438866 | | | 2:g.179438866C>T | ClinGen:CA283719 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.71833T>C (p.Trp23945Arg) | 7273 | TTN | Conflicting interpretations of pathogenicity | 553796385 | RCV000280236|RCV000302427|RCV000342223|RCV000372071|RCV000403345; | N | 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:C2673677,OMIM:611705,O | 2 | 179439026 | 179439026 | | | 2:g.179439026A>G | ClinGen:CA1990582 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.71612T>C (p.Ile23871Thr) | 7273 | TTN | Uncertain significance | 770250820 | RCV001132455|RCV001132454|RCV001133358|RCV001133356|RCV001133357; | N | 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, Orphanet:154|MON | 2 | 179439247 | 179439247 | | | 2:g.179439247A>G | - | | |
NM_001267550.2(TTN):c.71553T>A (p.Leu23851=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 373388052 | RCV001133360|RCV001133359|RCV001133361|RCV001133362|RCV001133363|RCV002070561; | N | 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,OMIM:608807,Orph | 2 | 179439306 | 179439306 | | | 2:g.179439306A>T | - | | |
NM_001267550.2(TTN):c.71544T>G (p.His23848Gln) | 7273 | TTN | Uncertain significance | -1 | RCV003148154|RCV003148153|RCV003148155|RCV003148156|RCV003148157|RCV003148158; | N | MONDO: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:0011362 | 2 | 179439315 | 179439315 | | | | - | | |
NM_001267550.2(TTN):c.71369G>A (p.Arg23790His) | 7273 | TTN | Benign/Likely benign | 55677134 | RCV000040568|RCV000172644|RCV000244382|RCV000289089|RCV000311329|RCV000350999|RCV000368217|RCV000405041|RCV000768935|RCV001083765; | N | MedGen: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|M | 2 | 179439490 | 179439490 | | | 2:g.179439490C>T | ClinGen:CA140603 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.70998A>G (p.Thr23666=) | 7273 | TTN | Benign/Likely benign | 767989384 | RCV000245702|RCV000396572|RCV000470054|RCV001840448|RCV001840450|RCV001840451|RCV001840449|RCV003114433; | N | MedGen: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:C1863599 | 2 | 179439861 | 179439861 | | | 2:g.179439861T>C | ClinGen:CA1990690 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.70907G>A (p.Arg23636His) | 7273 | TTN | Benign/Likely benign | 56071233 | RCV000082426|RCV000241993|RCV000264153|RCV000291940|RCV000325886|RCV000382718|RCV000383142|RCV000461091|RCV000852815|RCV001573402; | N | MedGen: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:00121 | 2 | 179439952 | 179439952 | | | 2:g.179439952C>T | ClinGen:CA149430 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val) | 7273 | TTN | Conflicting interpretations of pathogenicity | 72646891 | RCV000040564|RCV000227732|RCV000249890|RCV000294398|RCV000295463|RCV000337737|RCV000352767|RCV000390725|RCV000768940|RCV001081336; | N | MedGen: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|M | 2 | 179440027 | 179440027 | | | 2:g.179440027G>A | ClinGen:CA283702 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.70830C>T (p.Ser23610=) | 7273 | TTN | Benign | 12464787 | RCV000040563|RCV000247860|RCV000297946|RCV000306054|RCV000355113|RCV000358526|RCV000398179|RCV000993478|RCV001514401; | N | MedGen: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:C1858 | 2 | 179440029 | 179440029 | | | | ClinGen:CA283697 | | |
NM_001267550.2(TTN):c.70815G>A (p.Val23605=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 55847238 | RCV000040562|RCV000247125|RCV000270031|RCV000273614|RCV000328195|RCV000362297|RCV000389086|RCV000513284|RCV000768941|RCV001082634; | N | MedGen: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:C1863599 | 2 | 179440044 | 179440044 | | | | ClinGen:CA283692 | | |
NM_001267550.2(TTN):c.70784T>C (p.Leu23595Pro) | 7273 | TTN | Uncertain significance | 886055249 | RCV000285511|RCV000331005|RCV000334641|RCV000373930|RCV000372966|RCV003137947; | N | 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, Orphanet:289377|MON | 2 | 179440075 | 179440075 | | | 2:g.179440075A>G | ClinGen:CA10613248 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg) | 7273 | TTN | Benign/Likely benign | 55801134 | RCV000040560|RCV000229769|RCV000249212|RCV000303193|RCV000310303|RCV000346389|RCV000342774|RCV000405582|RCV000993477; | N | MedGen: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:C1863599 | 2 | 179440163 | 179440163 | | | 2:g.179440163C>G | ClinGen:CA283687 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.70506G>T (p.Gly23502=) | 7273 | TTN | Benign/Likely benign | 181702963 | RCV000516726|RCV000554892|RCV001840625|RCV001840626|RCV001840627|RCV001840628|RCV002329227|RCV003150253|RCV003437238; | N | 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:C1837342,OMIM:608807,Orp | 2 | 179440353 | 179440353 | | | 2:g.179440353C>A | ClinGen:CA1990774 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.70492G>A (p.Gly23498Ser) | 7273 | TTN | Conflicting interpretations of pathogenicity | 370771532 | RCV000040556|RCV000184775|RCV000544602|RCV001130763|RCV001130764|RCV001130762|RCV001133729|RCV001133730|RCV002326752; | N | MedGen: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:C1858763 | 2 | 179440367 | 179440367 | | | 2:g.179440367C>T | ClinGen:CA140578 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.70380G>A (p.Leu23460=) | 7273 | TTN | Benign/Likely benign | 185660043 | RCV000863057|RCV001698328|RCV001840564|RCV001840566|RCV001840565|RCV001840567|RCV002488968; | N | 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:C1863599,OMIM:603689,Orp | 2 | 179440479 | 179440479 | | | 2:g.179440479C>T | ClinGen:CA1990796 | CN169374 not specified; | |
NM_001267550.2(TTN):c.70305G>A (p.Thr23435=) | 7273 | TTN | Benign/Likely benign | 397517684 | RCV000040554|RCV000714085|RCV001471434|RCV001839684|RCV001839685|RCV001839686|RCV001839687|RCV002326751; | N | MedGen: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:C1837342 | 2 | 179440554 | 179440554 | | | 2:g.179440554C>T | ClinGen:CA140570 | CN169374 not specified; | |
NM_001267550.2(TTN):c.70250T>C (p.Ile23417Thr) | 7273 | TTN | Benign/Likely benign | 201836227 | RCV000154922|RCV000468387|RCV000622225|RCV001704125|RCV001840139|RCV001840141|RCV001840142|RCV001840140; | N | MedGen: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:0011362 | 2 | 179440609 | 179440609 | | | 2:g.179440609A>G | ClinGen:CA181727 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 369503828 | RCV000156831|RCV000262898|RCV000282721|RCV000318111|RCV000371793|RCV000342673|RCV000714084|RCV001087657|RCV001798524|RCV002326892; | N | MedGen: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:C26736 | 2 | 179440728 | 179440728 | | | 2:g.179440728T>C | ClinGen:CA185670 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.70112G>C (p.Arg23371Pro) | 7273 | TTN | Uncertain significance | 767208489 | RCV001130189|RCV000643467|RCV001135223|RCV001135222|RCV001135224|RCV001135225|RCV002493014; | N | 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:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922|MON | 2 | 179440747 | 179440747 | | | 2:g.179440747C>G | ClinGen:CA349664878 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.70111C>T (p.Arg23371Cys) | 7273 | TTN | Uncertain significance | 56141309 | RCV001130192|RCV001130194|RCV001130191|RCV001130193|RCV001130190|RCV002327405; | N | 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:C1858763,OMIM:604145,O | 2 | 179440748 | 179440748 | | | 2:g.179440748G>A | - | | |
NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met) | 7273 | TTN | Conflicting interpretations of pathogenicity | 368867993 | RCV000152233|RCV000723936|RCV001081781|RCV001130195|RCV001130196|RCV001130897|RCV001130898|RCV001130896|RCV002326873; | N | MedGen: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:C1858763 | 2 | 179440995 | 179440995 | | | 2:g.179440995T>C | ClinGen:CA178543 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.69837T>A (p.His23279Gln) | 7273 | TTN | Uncertain significance | 752879532 | RCV001130901|RCV001130903|RCV001130902|RCV001130899|RCV001130900; | N | 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,OMIM:608807,Orph | 2 | 179441022 | 179441022 | | | 2:g.179441022A>T | - | | |
NM_001267550.2(TTN):c.69490G>A (p.Val23164Met) | 7273 | TTN | Uncertain significance | 755341733 | RCV000267225|RCV000321248|RCV000326926|RCV000361966|RCV000381676; | N | 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:C1863599,OMIM:603689, Orphanet:178464,Orp | 2 | 179441481 | 179441481 | | | 2:g.179441481C>T | ClinGen:CA10612051 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.69458A>C (p.Lys23153Thr) | 7273 | TTN | Uncertain significance | 879119970 | RCV001131022|RCV001131023|RCV001133985|RCV001133984|RCV001133983|RCV003142061; | N | 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, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179441513 | 179441513 | | | 2:g.179441513T>G | - | | |
NM_001267550.2(TTN):c.69331A>G (p.Ile23111Val) | 7273 | TTN | Uncertain significance | 1398776954 | RCV002244081; | N | MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807, Orphanet:140922 | 2 | 179441731 | 179441731 | | | 179441731 | - | | |
NM_001267550.2(TTN):c.69231T>C (p.Leu23077=) | 7273 | TTN | Benign/Likely benign | 12615797 | RCV000291969|RCV000292171|RCV000223200|RCV000405849|RCV000471554|RCV000327411|RCV000386628|RCV000621078|RCV000769964|RCV001705190; | N | MONDO: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,Orp | 2 | 179441831 | 179441831 | | | 2:g.179441831A>G | ClinGen:CA1990961 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) | 7273 | TTN | Conflicting interpretations of pathogenicity | 55980498 | RCV000040535|RCV000242208|RCV000270511|RCV000275015|RCV000325543|RCV000360261|RCV000366186|RCV000488277|RCV000769965|RCV000852818|RCV001079297|RCV001293210|RCV002222367; | N | MedGen: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:00121 | 2 | 179441932 | 179441932 | | | 2:g.179441932G>A | ClinGen:CA140506,UniProtKB:Q8WZ42#VAR_040219 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.69095A>T (p.His23032Leu) | 7273 | TTN | Uncertain significance | 886055251 | RCV000281926|RCV000295016|RCV000317124|RCV000330136|RCV000371712|RCV000389253; | N | MONDO: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 O | 2 | 179441967 | 179441967 | | | 2:g.179441967T>A | ClinGen:CA10613249 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.68528-8T>C | 7273 | TTN | Conflicting interpretations of pathogenicity | 746223377 | RCV001135618|RCV001135619|RCV001135620|RCV001135617|RCV001135616|RCV001471095; | N | 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:C1858763,OMIM:604145,O | 2 | 179442633 | 179442633 | | | 2:g.179442633A>G | - | | |
NM_001267550.2(TTN):c.68458G>C (p.Ala22820Pro) | 7273 | TTN | Conflicting interpretations of pathogenicity | 72646880 | RCV000040538|RCV000282806|RCV000307639|RCV000337009|RCV000342426|RCV000405692|RCV000463057|RCV000618829|RCV001093056|RCV001293209|RCV001798175|RCV001787841; | N | MedGen: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, | 2 | 179442784 | 179442784 | | | 2:g.179442784C>G | ClinGen:CA140519 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 200797552 | RCV000154926|RCV000172272|RCV000234385|RCV000261085|RCV000248442|RCV000262197|RCV000316255|RCV000375502|RCV000370118; | N | MedGen: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:0012714 | 2 | 179442805 | 179442805 | | | 2:g.179442805C>T | ClinGen:CA181741 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.68391G>A (p.Pro22797=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 368985748 | RCV000288345|RCV000287389|RCV000342338|RCV000377156|RCV000382759|RCV000616130|RCV001426889|RCV002323537|RCV001726130; | N | 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, Orphanet:178464,Orp | 2 | 179442851 | 179442851 | | | 2:g.179442851C>T | ClinGen:CA1991113 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.68390C>T (p.Pro22797Leu) | 7273 | TTN | Uncertain significance | 1371471381 | RCV000852509|RCV001135736|RCV001134239|RCV001134240|RCV001134241|RCV001134242; | N | Human 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: | 2 | 179442852 | 179442852 | | | 2:g.179442852G>A | - | | |
NM_001267550.2(TTN):c.68208T>A (p.Val22736=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 727503575 | RCV000152241|RCV000727192|RCV001089296|RCV001128743|RCV001128744|RCV001128746|RCV001128745|RCV001128747|RCV002321630; | N | MedGen: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:C1858763 | 2 | 179443549 | 179443549 | | | 2:g.179443549A>T | ClinGen:CA178563 | CN169374 not specified; | |
NM_001267550.2(TTN):c.68160C>T (p.Ala22720=) | 7273 | TTN | Benign/Likely benign | 397517673 | RCV000040531|RCV000872762|RCV001839676|RCV001839677|RCV001839678|RCV001839679|RCV002321533|RCV003430648; | N | 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:C1837342,OMIM:608807,Orp | 2 | 179443597 | 179443597 | | | 2:g.179443597G>A | ClinGen:CA140494 | CN169374 not specified; | |
NM_001267550.2(TTN):c.67960G>C (p.Asp22654His) | 7273 | TTN | Conflicting interpretations of pathogenicity | 144295295 | RCV000040528|RCV001134379|RCV001135840|RCV001135839|RCV001135841|RCV001135838; | N | 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:0011362,MedGen:C1863599,OMIM:603689, | 2 | 179443797 | 179443797 | | | NC_000002.11:g.179443797C>G | ClinGen:CA140484 | CN169374 not specified; | |
NM_001267550.2(TTN):c.67959T>C (p.Phe22653=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 72646877 | RCV000250102|RCV000725846|RCV001135842|RCV001128849|RCV001135844|RCV001135845|RCV001078621|RCV001135843|RCV002321936; | N | MedGen: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:C1863599 | 2 | 179443798 | 179443798 | | | NC_000002.11:g.179443798A>G | ClinGen:CA1991212 | CN169374 not specified; | |
NM_001267550.2(TTN):c.67856G>A (p.Gly22619Glu) | 7273 | TTN | Uncertain significance | 886055252 | RCV000269397|RCV000291568|RCV000326744|RCV000383659|RCV000386958; | N | 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:0012127,MedGen:C1837342,OMIM:608807,O | 2 | 179443901 | 179443901 | | | 2:g.179443901C>T | ClinGen:CA10611625 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.67643C>T (p.Pro22548Leu) | 7273 | TTN | Uncertain significance | 763002536 | RCV001134505|RCV001134507|RCV001134506|RCV001134508|RCV001134509; | N | 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,OMIM:608807,Orph | 2 | 179444114 | 179444114 | | | 2:g.179444114G>A | - | | |
NM_001267550.2(TTN):c.67348+11G>C | 7273 | TTN | Benign/Likely benign | 587780982 | RCV000156317|RCV001839987|RCV001839984|RCV001839985|RCV001839986|RCV002055614; | N | 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:C1863599,OMIM:603689, | 2 | 179444655 | 179444655 | | | 2:g.179444655C>G | ClinGen:CA295827 | CN169374 not specified; | |
NM_001267550.2(TTN):c.67246G>C (p.Ala22416Pro) | 7273 | TTN | Benign | 4145333 | RCV000040520|RCV000248869|RCV000282280|RCV000286185|RCV000339521|RCV000374422|RCV000407028|RCV000768949|RCV000993474|RCV001513450; | N | MedGen: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:C1863599 | 2 | 179444768 | 179444768 | | | 2:g.179444768C>G | ClinGen:CA283646 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.67210G>A (p.Val22404Met) | 7273 | TTN | Conflicting interpretations of pathogenicity | 369257896 | RCV000532135|RCV001131637|RCV001131639|RCV001131635|RCV001131636|RCV001131638|RCV001170576|RCV001584289; | N | 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, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179444804 | 179444804 | | | NC_000002.11:g.179444804C>T | ClinGen:CA1991353 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn) | 7273 | TTN | Conflicting interpretations of pathogenicity | 727503577 | RCV000152246|RCV000311951|RCV000308543|RCV000343431|RCV000365300|RCV000405984|RCV000724292|RCV001406798|RCV003149925; | N | MedGen: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:C18373 | 2 | 179444910 | 179444910 | | | 2:g.179444910T>G | ClinGen:CA178580 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) | 7273 | TTN | Conflicting interpretations of pathogenicity | 72646873 | RCV000040518|RCV000230180|RCV000260453|RCV000275767|RCV000318112|RCV000333256|RCV000368971|RCV000621791|RCV000852821|RCV001083546|RCV001170577|RCV002221193; | N | MedGen: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:C1837342 | 2 | 179444915 | 179444915 | | | 2:g.179444915A>G | ClinGen:CA140450 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile) | 7273 | TTN | Benign/Likely benign | 2303838 | RCV000040517|RCV000247001|RCV000282945|RCV000287051|RCV000321643|RCV000344346|RCV000378652|RCV000993473|RCV001513451; | N | MedGen: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:00121 | 2 | 179444939 | 179444939 | | | 2:g.179444939C>T | ClinGen:CA283641 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.66985G>A (p.Ala22329Thr) | 7273 | TTN | Uncertain significance | 886055253 | RCV000263298|RCV000302072|RCV000355747|RCV000359157|RCV000404466|RCV002480181; | N | 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:C1858763,OMIM:604145, Orphanet:154|MON | 2 | 179445121 | 179445121 | | | 2:g.179445121C>T | ClinGen:CA10613271 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.66977A>G (p.Lys22326Arg) | 7273 | TTN | Benign/Likely benign | 202125813 | RCV000040515|RCV000464443|RCV001703905|RCV001839672|RCV001839674|RCV001839673|RCV001839675|RCV002371844; | N | MedGen: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:C1863599 | 2 | 179445129 | 179445129 | | | 2:g.179445129T>C | ClinGen:CA140441 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 371802557 | RCV000040511|RCV000268502|RCV000303421|RCV000299974|RCV000338417|RCV000360455|RCV000404862|RCV000465995|RCV002371843|RCV003149654|RCV003389730; | N | MedGen: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 O | 2 | 179446293 | 179446293 | | | 2:g.179446293G>A | ClinGen:CA140423 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.66600C>T (p.Ser22200=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 371324060 | RCV000840931|RCV001129188|RCV001129184|RCV001129185|RCV001129186|RCV001129187|RCV001502378|RCV002234382|RCV002372379; | N | MedGen: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, | 2 | 179446395 | 179446395 | | | 2:g.179446395G>A | - | | |
NM_001267550.2(TTN):c.66580G>A (p.Glu22194Lys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 768049902 | RCV001129190|RCV001129189|RCV001129191|RCV001131874|RCV001131875|RCV001293207; | N | 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, Orphanet:609|MON | 2 | 179446415 | 179446415 | | | 2:g.179446415C>T | - | | |
NM_001267550.2(TTN):c.66576C>A (p.Leu22192=) | 7273 | TTN | Benign/Likely benign | 187378247 | RCV000465235|RCV000598212|RCV001840578|RCV001840579|RCV001840580|RCV001840581|RCV002374827; | N | 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:C1837342,OMIM:608807,Orp | 2 | 179446419 | 179446419 | | | NC_000002.11:g.179446419G>T | ClinGen:CA1991478 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.66376T>C (p.Tyr22126His) | 7273 | TTN | Uncertain significance | 1447894010 | RCV001136282|RCV001136278|RCV001136279|RCV001136280|RCV001136281|RCV002261288; | N | 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, Orphanet:178464, | 2 | 179446720 | 179446720 | | | 2:g.179446720A>G | - | | |
NM_001267550.2(TTN):c.66160+16G>A | 7273 | TTN | Benign | 149714835 | RCV000125860|RCV001528946|RCV001839980|RCV001839982|RCV002055613|RCV001839983|RCV001839981; | N | MedGen: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, | 2 | 179447007 | 179447007 | | | 2:g.179447007C>T | ClinGen:CA291466 | CN169374 not specified; | |
NM_001267550.2(TTN):c.66160+15C>T | 7273 | TTN | Conflicting interpretations of pathogenicity | 377288086 | RCV000154929|RCV000259910|RCV000299785|RCV000333559|RCV000358279|RCV000354765|RCV002056066; | N | MedGen: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, | 2 | 179447008 | 179447008 | | | 2:g.179447008G>A | ClinGen:CA181751 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.65863+1G>A | 7273 | TTN | Pathogenic | 2154178615 | RCV002246796; | N | MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609 | 2 | 179447666 | 179447666 | | | 179447666 | - | | |
NM_001267550.2(TTN):c.65775C>T (p.Ser21925=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 72646867 | RCV000040500|RCV000225958|RCV000274823|RCV000329910|RCV000326526|RCV000369611|RCV000384695|RCV000621981|RCV000768957|RCV001529138; | N | MedGen: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,Orp | 2 | 179447755 | 179447755 | | | | ClinGen:CA283624 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.65747G>A (p.Arg21916Gln) | 7273 | TTN | Conflicting interpretations of pathogenicity | 148849567 | RCV000040499|RCV000241625|RCV000282835|RCV000341241|RCV000337921|RCV000381175|RCV000408381|RCV000466378|RCV001170583|RCV001703903; | N | MedGen: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:C2673677 | 2 | 179447783 | 179447783 | | | 2:g.179447783C>T | ClinGen:CA140394 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.65746C>T (p.Arg21916Trp) | 7273 | TTN | Conflicting interpretations of pathogenicity | 200155485 | RCV000152252|RCV000172283|RCV000298339|RCV000312931|RCV000353195|RCV000408391|RCV000404677|RCV000470625; | N | MedGen: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:00121 | 2 | 179447784 | 179447784 | | | 2:g.179447784G>A | ClinGen:CA178599 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.65682A>G (p.Thr21894=) | 7273 | TTN | Benign | 4894029 | RCV000040497|RCV000250166|RCV000296733|RCV000310984|RCV000347187|RCV000350625|RCV000392870|RCV000993470|RCV001513452; | N | MedGen: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:00127 | 2 | 179447848 | 179447848 | | | | ClinGen:CA283614 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.65633G>C (p.Gly21878Ala) | 7273 | TTN | Uncertain significance | 767001973 | RCV000264793|RCV000268362|RCV000308377|RCV000359505|RCV000363010|RCV000827619|RCV002487470; | N | 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,OMIM:608807,Orph | 2 | 179447897 | 179447897 | | | NC_000002.11:g.179447897C>G | ClinGen:CA1991663 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.65575+19T>G | 7273 | TTN | Benign | 72646865 | RCV000125854|RCV001839976|RCV001839977|RCV001839978|RCV002055612|RCV001839979; | N | MedGen: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:C18587 | 2 | 179448315 | 179448315 | | | 2:g.179448315A>C | ClinGen:CA291462 | CN169374 not specified; | |
NM_001267550.2(TTN):c.65575+10T>C | 7273 | TTN | Conflicting interpretations of pathogenicity | 72646864 | RCV000040494|RCV000204359|RCV001133051|RCV001133050|RCV001133052|RCV001136493|RCV001136494|RCV001701487|RCV003149653; | N | 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:0012714,MedGen:C2673677,OMIM:611705,Orp | 2 | 179448324 | 179448324 | | | 2:g.179448324A>G | ClinGen:CA344682 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.65574T>C (p.Asn21858=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 374858668 | RCV000218631|RCV000462337|RCV001136495|RCV001136496|RCV001136497|RCV001136498|RCV001136499|RCV001705205|RCV002354613; | N | 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:C1863599,OMIM:603689,Orp | 2 | 179448335 | 179448335 | | | 2:g.179448335A>G | ClinGen:CA1991683 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.65534C>T (p.Pro21845Leu) | 7273 | TTN | Conflicting interpretations of pathogenicity | 201662134 | RCV000154931|RCV000293736|RCV000319887|RCV000316262|RCV000374365|RCV000389492|RCV000620398|RCV000725861|RCV001081279|RCV001293206; | N | MedGen: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:C18373 | 2 | 179448375 | 179448375 | | | 2:g.179448375G>A | ClinGen:CA181757 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.65515G>A (p.Ala21839Thr) | 7273 | TTN | Conflicting interpretations of pathogenicity | 56378177 | RCV000262020|RCV000298416|RCV000341773|RCV000356447|RCV000406787|RCV000557186|RCV001721159|RCV002354501; | N | 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, Orphanet:154|MON | 2 | 179448394 | 179448394 | | | 2:g.179448394C>T | ClinGen:CA310313,UniProtKB:Q8WZ42#VAR_040209 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.65499A>G (p.Arg21833=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 369255906 | RCV000274078|RCV000277177|RCV000329281|RCV000332269|RCV000368757|RCV000952649|RCV001572142|RCV002356453; | N | 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:C1863599,OMIM:603689, Orphanet:178464,Orp | 2 | 179448410 | 179448410 | | | 2:g.179448410T>C | ClinGen:CA1991693 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile) | 7273 | TTN | Conflicting interpretations of pathogenicity | 56130023 | RCV000040492|RCV000172648|RCV000285866|RCV000289204|RCV000325515|RCV000341054|RCV000383806|RCV000617230|RCV001084400|RCV001170804; | N | MedGen: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:C2673677 | 2 | 179448450 | 179448450 | | | 2:g.179448450G>A | ClinGen:CA140385 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.65416C>T (p.Arg21806Trp) | 7273 | TTN | Uncertain significance | 778703530 | RCV000282443|RCV000297889|RCV000337522|RCV000408183|RCV000408175|RCV002356454|RCV002487471; | N | 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:C1858763,OMIM:604145,O | 2 | 179448493 | 179448493 | | | 2:g.179448493G>A | ClinGen:CA1991705 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.65410T>C (p.Trp21804Arg) | 7273 | TTN | Conflicting interpretations of pathogenicity | 745626132 | RCV000273244|RCV000310901|RCV000325941|RCV000365624|RCV000404582|RCV000643671|RCV003335308|RCV002365396; | N | 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:C1837342,OMIM:608807,O | 2 | 179448499 | 179448499 | | | 2:g.179448499A>G | ClinGen:CA1991706 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.65182C>G (p.Leu21728Val) | 7273 | TTN | Conflicting interpretations of pathogenicity | 781121273 | RCV000184727|RCV001129618|RCV001129619|RCV001129620|RCV001129621|RCV001129617; | N | MedGen: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, | 2 | 179449096 | 179449096 | | | 2:g.179449096G>C | ClinGen:CA310310 | CN169374 not specified; | |
NM_001267550.2(TTN):c.65173G>A (p.Val21725Ile) | 7273 | TTN | Conflicting interpretations of pathogenicity | 368716894 | RCV000222014|RCV000318684|RCV000376978|RCV000267310|RCV000284705|RCV000324683|RCV000731696; | N | 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|MONDO:MONDO:0012714,MedGen:C2673677, | 2 | 179449105 | 179449105 | | | 2:g.179449105C>T | ClinGen:CA1991765 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu) | 7273 | TTN | Benign/Likely benign | 13021201 | RCV000040488|RCV000244431|RCV000268004|RCV000307887|RCV000308979|RCV000360249|RCV000365873|RCV000465778|RCV000993468; | N | MedGen: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:C1863599 | 2 | 179449131 | 179449131 | | | 2:g.179449131G>A | ClinGen:CA283599 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.65144G>T (p.Arg21715Leu) | 7273 | TTN | Conflicting interpretations of pathogenicity | 368450785 | RCV000184726|RCV000262099|RCV000260739|RCV000302097|RCV000319553|RCV000358672|RCV000462751|RCV003137729; | N | MedGen: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:C18373 | 2 | 179449134 | 179449134 | | | 2:g.179449134C>A | ClinGen:CA310307 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys) | 7273 | TTN | Benign/Likely benign | 72646861 | RCV000040486|RCV000248485|RCV000288255|RCV000292517|RCV000346673|RCV000384863|RCV000389111|RCV000460251|RCV001170806|RCV001529618; | N | MedGen: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:00114 | 2 | 179449186 | 179449186 | | | 2:g.179449186G>A | ClinGen:CA283594 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.64973-12C>G | 7273 | TTN | Uncertain significance | 918265990 | RCV001132456|RCV001132458|RCV001132457|RCV001132459|RCV001132460; | N | 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, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179449317 | 179449317 | | | 2:g.179449317G>C | - | | |
NM_001267550.2(TTN):c.64965C>G (p.Phe21655Leu) | 7273 | TTN | Uncertain significance | 886055255 | RCV000277954|RCV000298977|RCV000330712|RCV000357380|RCV000370160; | N | 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, Orphanet:178464,Orp | 2 | 179449403 | 179449403 | | | 2:g.179449403G>C | ClinGen:CA10611629 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.64685C>A (p.Pro21562His) | 7273 | TTN | Uncertain significance | 1213776805 | RCV001132549|RCV001132551|RCV001132552|RCV001132553|RCV001132550; | N | 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, Orphanet:178464,Orp | 2 | 179449683 | 179449683 | | | 2:g.179449683G>T | - | | |
NM_001267550.2(TTN):c.64493G>A (p.Cys21498Tyr) | 7273 | TTN | Uncertain significance | 752724337 | RCV001132556|RCV001132555|RCV001132554|RCV001133461|RCV001133462|RCV002505707; | N | 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, Orphanet:154|MON | 2 | 179449978 | 179449978 | | | 2:g.179449978C>T | - | | |
NM_001267550.2(TTN):c.64453C>A (p.Arg21485=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 768345594 | RCV001133466|RCV001133463|RCV001133464|RCV001133465|RCV001133467|RCV002067626|RCV003307793; | N | 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, Orphanet:178464, | 2 | 179450018 | 179450018 | | | 2:g.179450018G>T | - | | |
NM_001267550.2(TTN):c.64238A>G (p.Asp21413Gly) | 7273 | TTN | Conflicting interpretations of pathogenicity | 375659466 | RCV000727834|RCV000769977|RCV001002278|RCV001133468|RCV001134972|RCV001134974|RCV001134971|RCV001134973; | N | MedGen: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:MO | 2 | 179451390 | 179451390 | | | NC_000002.11:g.179451390T>C | - | | |
NM_001267550.2(TTN):c.64195G>A (p.Asp21399Asn) | 7273 | TTN | Conflicting interpretations of pathogenicity | 749018114 | RCV000267919|RCV000320752|RCV000326464|RCV000360194|RCV000377730|RCV001711472|RCV003150070; | N | 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, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179451433 | 179451433 | | | 2:g.179451433C>T | ClinGen:CA310264 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 72646859 | RCV000040478|RCV000172649|RCV000244887|RCV001080680|RCV001129930|RCV001129931|RCV001130634|RCV001130633|RCV001130635|RCV001170810|RCV003319176; | N | MedGen: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:0011362 | 2 | 179451454 | 179451454 | | | 2:g.179451454G>A | ClinGen:CA140336 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.64111A>G (p.Arg21371Gly) | 7273 | TTN | Uncertain significance | 748901968 | RCV000693779|RCV001133596|RCV001133597|RCV001133598|RCV001133595|RCV001133594|RCV003140100; | N | 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, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179451517 | 179451517 | | | NC_000002.11:g.179451517T>C | - | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=) | 7273 | TTN | Benign/Likely benign | 72646857 | RCV000040475|RCV000246945|RCV000292437|RCV000310490|RCV000362883|RCV000391361|RCV000391375|RCV000475220|RCV001082277; | N | MedGen: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:00121 | 2 | 179451906 | 179451906 | | | | ClinGen:CA283584 | | |
NM_001267550.2(TTN):c.63941C>T (p.Ser21314Leu) | 7273 | TTN | Uncertain significance | 776468606 | RCV000263673|RCV000264794|RCV000304488|RCV000322160|RCV000361782|RCV000537870|RCV002450898|RCV003137949; | N | 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:C1858763,OMIM:604145,O | 2 | 179451997 | 179451997 | | | 2:g.179451997G>A | ClinGen:CA1991995 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.63879C>T (p.Asp21293=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 200463088 | RCV000040470|RCV000245900|RCV000295521|RCV000294525|RCV000316505|RCV000334167|RCV000373573|RCV000475891|RCV001798171; | N | MedGen: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:C1863599 | 2 | 179452059 | 179452059 | | | 2:g.179452059G>A | ClinGen:CA140305 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.63876C>T (p.Asn21292=) | 7273 | TTN | Benign/Likely benign | 199598302 | RCV000040469|RCV000227933|RCV000306006|RCV000341096|RCV000344771|RCV000406686|RCV000401153|RCV000769982|RCV001529201|RCV002453330; | N | 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:C1837342,OMIM:608807,Orp | 2 | 179452062 | 179452062 | | | | ClinGen:CA283579 | | |
NM_001267550.2(TTN):c.63793G>A (p.Asp21265Asn) | 7273 | TTN | Conflicting interpretations of pathogenicity | 794729474 | RCV000184710|RCV000460249|RCV001329653|RCV002453683|RCV002485246; | N | 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|MedGen:CN230736|6 conditions | 2 | 179452243 | 179452243 | | | 2:g.179452243C>T | ClinGen:CA310261 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val) | 7273 | TTN | Conflicting interpretations of pathogenicity | 72646855 | RCV000040467|RCV000082417|RCV000143969|RCV000262231|RCV000297845|RCV000312697|RCV000357132|RCV000393151|RCV000619500|RCV000852825|RCV001086280; | N | MedGen: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|MONDO | 2 | 179452447 | 179452447 | | | 2:g.179452447T>C | ClinGen:CA140295 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.63352C>T (p.Arg21118Trp) | 7273 | TTN | Conflicting interpretations of pathogenicity | 200726948 | RCV000040464|RCV000172292|RCV000248255|RCV000269467|RCV000332764|RCV000328753|RCV000367338|RCV000382596|RCV000852826|RCV001080206; | N | MedGen: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|M | 2 | 179452782 | 179452782 | | | 2:g.179452782G>A | ClinGen:CA140280 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.63287T>A (p.Ile21096Asn) | 7273 | TTN | Conflicting interpretations of pathogenicity | 558727238 | RCV000284284|RCV000285178|RCV000339354|RCV000379974|RCV000383293|RCV000830854; | N | 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:0012127,MedGen:C1837342,OMIM:608807,O | 2 | 179452847 | 179452847 | | | NC_000002.11:g.179452847A>T | ClinGen:CA1992113 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.63109C>T (p.Arg21037Cys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 191549948 | RCV000643775|RCV000997432|RCV001131031|RCV001133991|RCV001133992|RCV001133994|RCV001133993|RCV002336480|RCV003150069; | N | MONDO: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,Orp | 2 | 179453343 | 179453343 | | | 2:g.179453343G>A | ClinGen:CA310227 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.62995T>G (p.Phe20999Val) | 7273 | TTN | Conflicting interpretations of pathogenicity | 568886353 | RCV000276032|RCV000307778|RCV000322078|RCV000362515|RCV000376658|RCV001293203|RCV001704912|RCV002460055; | N | 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:0012127,MedGen:C1837342,OMIM:608807,O | 2 | 179453457 | 179453457 | | | 2:g.179453457A>C | ClinGen:CA310218 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 375006117 | RCV000040457|RCV000268107|RCV000278904|RCV000323386|RCV000338583|RCV000373423|RCV000621929|RCV000726632|RCV001079539|RCV003149652; | N | MedGen: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:C26736 | 2 | 179453458 | 179453458 | | | 2:g.179453458G>A | ClinGen:CA140264 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 184863287 | RCV000152263|RCV000252401|RCV000725199|RCV001083795|RCV001130434|RCV001130430|RCV001130431|RCV001130432|RCV001130433|RCV001798479; | N | MedGen: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:0012127 | 2 | 179453509 | 179453509 | | | 2:g.179453509A>G | ClinGen:CA178630 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.62834G>A (p.Gly20945Asp) | 7273 | TTN | Uncertain significance | 2049635543 | RCV001131155|RCV001131154|RCV001131156|RCV001131157|RCV001131158; | N | 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:0012714,MedGen:C2673677,OMIM:611705,O | 2 | 179453618 | 179453618 | | | 2:g.179453618C>T | - | | |
NM_001267550.2(TTN):c.62611C>G (p.Leu20871Val) | 7273 | TTN | Conflicting interpretations of pathogenicity | 767670018 | RCV000618178|RCV001130546|RCV001130543|RCV001130545|RCV001130542|RCV001130544|RCV001578203; | N | 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:0011400,MedGen:C18587 | 2 | 179453841 | 179453841 | | | 2:g.179453841G>C | ClinGen:CA1992201 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.62609A>C (p.Asn20870Thr) | 7273 | TTN | Conflicting interpretations of pathogenicity | 376338324 | RCV000267175|RCV000302699|RCV000309790|RCV000365491|RCV000390976|RCV001564075; | N | 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:C1837342,OMIM:608807, Orphanet:140922|MON | 2 | 179453843 | 179453843 | | | 2:g.179453843T>G | ClinGen:CA1992202 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala) | 7273 | TTN | Conflicting interpretations of pathogenicity | 200689750 | RCV000040455|RCV000172650|RCV000246008|RCV000263771|RCV000292758|RCV000317683|RCV000318648|RCV000387122|RCV000458325|RCV003149651; | N | MedGen: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:0012714 | 2 | 179453880 | 179453880 | | | 2:g.179453880T>C | ClinGen:CA140255 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.62534C>T (p.Thr20845Met) | 7273 | TTN | Conflicting interpretations of pathogenicity | 727505316 | RCV000355324|RCV001134243|RCV001134245|RCV001134247|RCV001134244|RCV001134246; | N | 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:0011400,MedGen:C18587 | 2 | 179453918 | 179453918 | | | 2:g.179453918G>A | ClinGen:CA1992216 | CN169374 not specified; | |
NM_001267550.2(TTN):c.62511T>C (p.Ser20837=) | 7273 | TTN | Benign/Likely benign | 369467841 | RCV000518725|RCV000863262|RCV001697012|RCV001840621|RCV001840623|RCV001840622|RCV001840624|RCV002455997; | N | MedGen: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:C1863599 | 2 | 179453941 | 179453941 | | | 2:g.179453941A>G | ClinGen:CA1992219 | CN169374 not specified; | |
NM_001267550.2(TTN):c.62385C>A (p.Gly20795=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 72646848 | RCV000040452|RCV000247961|RCV000545656|RCV001082861|RCV001135747|RCV001135748|RCV001135744|RCV001135745|RCV001135746|RCV001171290; | N | MedGen: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:0011400 | 2 | 179454067 | 179454067 | | | | ClinGen:CA283565 | | |
NM_001267550.2(TTN):c.62306C>A (p.Pro20769Gln) | 7273 | TTN | Uncertain significance | 772498581 | RCV000184690|RCV002453678|RCV003147386|RCV003147385|RCV003147387|RCV003147388|RCV003147389|RCV003147384; | N | 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:0011362,MedGen:C1863599 | 2 | 179454146 | 179454146 | | | 2:g.179454146G>T | ClinGen:CA310200 | CN517202 not provided; | |
NM_001267550.2(TTN):c.62280T>C (p.Val20760=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 372065796 | RCV000176605|RCV000251065|RCV000284206|RCV000289353|RCV000333758|RCV000344432|RCV000388445|RCV000724705|RCV001079619; | N | MedGen: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:C1863 | 2 | 179454172 | 179454172 | | | 2:g.179454172A>G | ClinGen:CA242608 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.62275G>A (p.Glu20759Lys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 562680371 | RCV000152264|RCV000300379|RCV000304060|RCV000339294|RCV000392749|RCV000400185|RCV000869565|RCV001704099|RCV002336306; | N | MedGen: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, | 2 | 179454177 | 179454177 | | | 2:g.179454177C>T | ClinGen:CA178633 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.62058T>C (p.Tyr20686=) | 7273 | TTN | Benign | 1560221 | RCV000040449|RCV000245531|RCV000276236|RCV000274974|RCV000330048|RCV000355249|RCV000370787|RCV000993465|RCV001513454; | N | MedGen: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:C1863599 | 2 | 179454394 | 179454394 | | | | ClinGen:CA283555 | | |
NM_001267550.2(TTN):c.62011G>A (p.Glu20671Lys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 770684884 | RCV000283430|RCV000291470|RCV000343002|RCV000377923|RCV000381020|RCV000869098|RCV001731612; | N | 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, Orphanet:609|MON | 2 | 179454441 | 179454441 | | | 2:g.179454441C>T | ClinGen:CA1992282 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) | 7273 | TTN | Conflicting interpretations of pathogenicity | 199895260 | RCV000040447|RCV000172651|RCV000279995|RCV000300024|RCV000335020|RCV000378989|RCV000401779|RCV000621320|RCV000768965|RCV000852829|RCV001084857|RCV002222152; | N | MedGen: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:C1863599 | 2 | 179454530 | 179454530 | | | 2:g.179454530C>T | ClinGen:CA140235 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.61488T>G (p.Ile20496Met) | 7273 | TTN | Uncertain significance | 886042497 | RCV000333927|RCV001134515|RCV001134512|RCV001134514|RCV001134511|RCV001134513; | N | 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:C1858763,OMIM:604145, | 2 | 179454964 | 179454964 | | | 2:g.179454964A>C | ClinGen:CA10604316 | CN169374 not specified; | |
NM_001267550.2(TTN):c.61370A>C (p.Glu20457Ala) | 7273 | TTN | Conflicting interpretations of pathogenicity | 541930965 | RCV000281500|RCV000293984|RCV000338846|RCV000351260|RCV000386335|RCV001565788|RCV002450899; | N | 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, Orphanet:178464,Orp | 2 | 179455082 | 179455082 | | | 2:g.179455082T>G | ClinGen:CA1992378 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.61289G>A (p.Cys20430Tyr) | 7273 | TTN | Conflicting interpretations of pathogenicity | 527704660 | RCV000152267|RCV000535645|RCV000714063|RCV001128975|RCV001128976|RCV001128977|RCV001128978|RCV001128979|RCV002453496; | N | MedGen: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:C1863599 | 2 | 179455163 | 179455163 | | | 2:g.179455163C>T | ClinGen:CA178640 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.61276C>T (p.Leu20426Phe) | 7273 | TTN | Conflicting interpretations of pathogenicity | 377529060 | RCV000265408|RCV000306892|RCV000310552|RCV000358355|RCV000398857|RCV000557466|RCV001375616|RCV002460068|RCV003137950; | N | 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,OMIM:604145,O | 2 | 179455176 | 179455176 | | | 2:g.179455176G>A | ClinGen:CA1992388 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.61224G>A (p.Val20408=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 566188777 | RCV000217874|RCV000459797|RCV001132658|RCV001131640|RCV001132660|RCV001132657|RCV001132659|RCV001171293|RCV001726051|RCV002453767; | N | 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:C1863599,OMIM:603689,Orp | 2 | 179455228 | 179455228 | | | 2:g.179455228C>T | ClinGen:CA1992390 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.61048C>T (p.Leu20350Phe) | 7273 | TTN | Uncertain significance | 1162158537 | RCV001129090|RCV001129091|RCV001129092|RCV001136059|RCV001136058; | N | 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:C1858763,OMIM:604145,O | 2 | 179455404 | 179455404 | | | 2:g.179455404G>A | - | | |
NM_001267550.2(TTN):c.61029T>C (p.Phe20343=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 6706088 | RCV000152269|RCV000206824|RCV000252438|RCV000294997|RCV000289179|RCV000329660|RCV000333638|RCV000381251|RCV001532421; | N | MedGen: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:C2673677 | 2 | 179455423 | 179455423 | | | 2:g.179455423A>G | ClinGen:CA346113 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.60991A>G (p.Arg20331Gly) | 7273 | TTN | Uncertain significance | 1226541281 | RCV001131762|RCV001131764|RCV001131763|RCV001131765|RCV001131766; | N | 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, Orphanet:178464,Orp | 2 | 179455461 | 179455461 | | | 2:g.179455461T>C | - | | |
NM_001267550.2(TTN):c.60844G>C (p.Asp20282His) | 7273 | TTN | Uncertain significance | 2050065045 | RCV001132758|RCV001132759|RCV001132760|RCV001132761|RCV001132762; | N | 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, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179455608 | 179455608 | | | 2:g.179455608C>G | - | | |
NM_001267550.2(TTN):c.60821C>T (p.Pro20274Leu) | 7273 | TTN | Benign/Likely benign | 72646845 | RCV000040435|RCV000243359|RCV000274783|RCV000301147|RCV000332171|RCV000354712|RCV000367570|RCV000392842|RCV000474195|RCV001171296|RCV001705689; | N | MedGen: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:C0007 | 2 | 179455631 | 179455631 | | | 2:g.179455631G>A | ClinGen:CA140188 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.60811C>A (p.Pro20271Thr) | 7273 | TTN | Uncertain significance | 886055256 | RCV000268813|RCV000320381|RCV000326238|RCV000370458|RCV000383052; | N | 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, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179455641 | 179455641 | | | 2:g.179455641G>T | ClinGen:CA10613278 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln) | 7273 | TTN | Conflicting interpretations of pathogenicity | 200212521 | RCV000040433|RCV000172653|RCV000280109|RCV000286181|RCV000337757|RCV000343483|RCV000396846|RCV001086697|RCV001171297|RCV002222151|RCV002321530; | N | MedGen: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:C1863 | 2 | 179455731 | 179455731 | | | 2:g.179455731C>G | ClinGen:CA140179 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.60524C>T (p.Pro20175Leu) | 7273 | TTN | Conflicting interpretations of pathogenicity | 771358314 | RCV000223279|RCV000462468|RCV000734811|RCV001131881|RCV001131883|RCV001131884|RCV001131880|RCV001131882|RCV003335235; | N | MedGen: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:C2673677 | 2 | 179455928 | 179455928 | | | 2:g.179455928G>A | ClinGen:CA1992479 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.60343G>A (p.Asp20115Asn) | 7273 | TTN | Conflicting interpretations of pathogenicity | 369893671 | RCV000311908|RCV000315024|RCV000362803|RCV000368981|RCV000399596|RCV000993463; | N | 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:C1858763,OMIM:604145,O | 2 | 179456109 | 179456109 | | | 2:g.179456109C>T | ClinGen:CA1992502 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.60198G>A (p.Pro20066=) | 7273 | TTN | Benign/Likely benign | 767152563 | RCV000216290|RCV000714061|RCV001084345|RCV001840352|RCV001840353|RCV001840354|RCV001840355|RCV002453766|RCV002494564; | N | MedGen: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:C1837342 | 2 | 179456348 | 179456348 | | | NC_000002.11:g.179456348C>T | ClinGen:CA1992544 | CN169374 not specified; | |
NM_001267550.2(TTN):c.60192T>C (p.Thr20064=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 1215674180 | RCV001129301|RCV001129302|RCV001129303|RCV001129304|RCV001136290|RCV000643889; | N | 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:C1858763,OMIM:604145, Orphanet:154|MON | 2 | 179456354 | 179456354 | | | NC_000002.11:g.179456354A>G | ClinGen:CA430266829 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.60050AAG[2] (p.Glu20019del) | 7273 | TTN | Uncertain significance | 886055257 | RCV000264864|RCV000270544|RCV000322277|RCV000328015|RCV000366372|RCV000379756; | N | 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:0012714,MedGen:C2673677,OMIM:611705, Orphanet:289377|MedGen:CN239352|MONDO:MONDO | 2 | 179456488 | 179456490 | | | 2:g.179456488_179456490del | ClinGen:CA10611649 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.60033A>C (p.Gly20011=) | 7273 | TTN | Uncertain significance | 761455000 | RCV001132005|RCV001132007|RCV001132006|RCV001132008|RCV001132009; | N | 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, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179456513 | 179456513 | | | 2:g.179456513T>G | - | | |
NM_001267550.2(TTN):c.59912C>T (p.Ala19971Val) | 7273 | TTN | Uncertain significance | 886055258 | RCV000294623|RCV000307746|RCV000346197|RCV000352157|RCV000398499|RCV000402367|RCV000620688|RCV003137951|RCV002504121; | N | MedGen: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:28 | 2 | 179456719 | 179456719 | | | 2:g.179456719G>A | ClinGen:CA10611650 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 72646842 | RCV000040425|RCV000266817|RCV000305690|RCV000302100|RCV000353482|RCV000359114|RCV000714060|RCV001086691|RCV002321527; | N | 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:C1863599,OMIM:603689,Orp | 2 | 179456796 | 179456796 | | | 2:g.179456796G>A | ClinGen:CA140157 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.59573C>T (p.Thr19858Ile) | 7273 | TTN | Conflicting interpretations of pathogenicity | 757911359 | RCV000299263|RCV000348294|RCV000351980|RCV000387777|RCV000401570; | N | 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:C1858763,OMIM:604145,O | 2 | 179457159 | 179457159 | | | 2:g.179457159G>A | ClinGen:CA1992645 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.59534G>A (p.Arg19845His) | 7273 | TTN | Conflicting interpretations of pathogenicity | 201457934 | RCV000613768|RCV001133053|RCV001133054|RCV001133055|RCV001133056|RCV001132127|RCV003139925; | N | MedGen: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:C18373 | 2 | 179457198 | 179457198 | | | 2:g.179457198C>T | ClinGen:CA1992652 | CN169374 not specified; | |
NM_001267550.2(TTN):c.59344+3G>A | 7273 | TTN | Conflicting interpretations of pathogenicity | 142095604 | RCV000154935|RCV000264865|RCV000248538|RCV000304853|RCV000310825|RCV000335560|RCV000359571|RCV000727110|RCV000769994|RCV000852833|RCV001080536; | N | MedGen: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:00121 | 2 | 179457499 | 179457499 | | | 2:g.179457499C>T | ClinGen:CA211129 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.59341C>T (p.Leu19781Phe) | 7273 | TTN | Conflicting interpretations of pathogenicity | 555577161 | RCV000270975|RCV000276322|RCV000289406|RCV000326003|RCV000331417|RCV000365549; | N | MONDO: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,Orp | 2 | 179457505 | 179457505 | | | 2:g.179457505G>A | ClinGen:CA1992686 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.59322A>G (p.Pro19774=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 188063446 | RCV000040421|RCV000278971|RCV000318896|RCV000342659|RCV000373508|RCV000386004|RCV000469487|RCV001530016|RCV002321526; | N | MedGen: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, | 2 | 179457524 | 179457524 | | | 2:g.179457524T>C | ClinGen:CA140144 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.59319G>A (p.Glu19773=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 367622770 | RCV000040420|RCV000254300|RCV000284184|RCV000308595|RCV000339177|RCV000363322|RCV000399397|RCV000465101|RCV001723623|RCV001798168; | N | MedGen: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:C1863 | 2 | 179457527 | 179457527 | | | 2:g.179457527C>T | ClinGen:CA283510 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu) | 7273 | TTN | Benign/Likely benign | 72646840 | RCV000040418|RCV000241577|RCV000476235|RCV001572698|RCV001839644|RCV001839645|RCV001839646|RCV001839647; | N | MedGen: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:0012127 | 2 | 179457531 | 179457531 | | | 2:g.179457531G>A | ClinGen:CA140134 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.58984A>G (p.Ile19662Val) | 7273 | TTN | Uncertain significance | 886055259 | RCV000262021|RCV000285695|RCV000322044|RCV000371925|RCV000376695; | N | 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, Orphanet:178464,Orp | 2 | 179457951 | 179457951 | | | 2:g.179457951T>C | ClinGen:CA10611651 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=) | 7273 | TTN | Benign | 2303836 | RCV000040412|RCV000250448|RCV000287749|RCV000291439|RCV000346308|RCV000352059|RCV000401698|RCV000474017|RCV000769997|RCV000993459; | N | MedGen: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, | 2 | 179458002 | 179458002 | | | 2:g.179458002G>A | ClinGen:CA283505 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.58676T>A (p.Leu19559Gln) | 7273 | TTN | Benign/Likely benign | 76604657 | RCV000863812|RCV001288572|RCV001840753|RCV001840755|RCV001840754|RCV001840756; | N | 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:0011362,MedGen:C1863599,OMIM:603689,Orp | 2 | 179458351 | 179458351 | | | 2:g.179458351A>T | - | | |
NM_001267550.2(TTN):c.58639G>A (p.Gly19547Arg) | 7273 | TTN | Uncertain significance | 886055260 | RCV000259397|RCV000299193|RCV000354108|RCV000367003|RCV000399553; | N | 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, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179458388 | 179458388 | | | 2:g.179458388C>T | ClinGen:CA10612055 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile) | 7273 | TTN | Conflicting interpretations of pathogenicity | 377682563 | RCV000172656|RCV000266149|RCV000272074|RCV000311922|RCV000321127|RCV000360816|RCV000385028|RCV000471860|RCV001798623|RCV002321686; | N | MedGen: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:00114 | 2 | 179458451 | 179458451 | | | 2:g.179458451C>T | ClinGen:CA238495 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His) | 7273 | TTN | Benign/Likely benign | 2288569 | RCV000040406|RCV000244353|RCV000293230|RCV000327089|RCV000351162|RCV000387083|RCV000381798|RCV000993458|RCV001519592; | N | MedGen: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:C1863 | 2 | 179458591 | 179458591 | | | 2:g.179458591C>T | ClinGen:CA283495 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.58433-15T>G | 7273 | TTN | Uncertain significance | 2050786898 | RCV001133369|RCV001133370|RCV001133368|RCV001132461|RCV001132462; | N | 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, Orphanet:609|MON | 2 | 179458609 | 179458609 | | | 2:g.179458609A>C | - | | |
NM_001267550.2(TTN):c.58426G>A (p.Val19476Ile) | 7273 | TTN | Conflicting interpretations of pathogenicity | 397517636 | RCV000040405|RCV000184655|RCV000302892|RCV000338819|RCV000335169|RCV000396639|RCV000401844|RCV001087765|RCV002321520; | N | MedGen: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:C1837342 | 2 | 179458694 | 179458694 | | | 2:g.179458694C>T | ClinGen:CA140094 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.58397G>C (p.Gly19466Ala) | 7273 | TTN | Conflicting interpretations of pathogenicity | 201922910 | RCV000184654|RCV000274852|RCV000330015|RCV000335906|RCV000375191|RCV000387758|RCV000765567|RCV002321742|RCV003317135; | N | 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:0011400,MedGen:C18587 | 2 | 179458723 | 179458723 | | | 2:g.179458723C>G | ClinGen:CA310125 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.58368dup (p.Tyr19457fs) | 7273 | TTN | Likely pathogenic | 2050860445 | RCV001198133; | N | MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609 | 2 | 179458751 | 179458752 | | | 2:g.179458751_179458752insT | - | | |
NM_001267550.2(TTN):c.58226G>A (p.Arg19409His) | 7273 | TTN | Conflicting interpretations of pathogenicity | 201505306 | RCV000152274|RCV000172300|RCV000306594|RCV000314770|RCV000363653|RCV000366954|RCV000399359|RCV000621257|RCV001083650|RCV001170367; | N | MedGen: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:00127 | 2 | 179458894 | 179458894 | | | 2:g.179458894C>T | ClinGen:CA178653 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.58207G>C (p.Ala19403Pro) | 7273 | TTN | Conflicting interpretations of pathogenicity | 545185154 | RCV000259463|RCV000274681|RCV000317014|RCV000356634|RCV000366217|RCV000378536; | N | 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, Orphanet:154|Med | 2 | 179458913 | 179458913 | | | 2:g.179458913C>G | ClinGen:CA1992894 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.58155C>A (p.Pro19385=) | 7273 | TTN | Benign/Likely benign | 373587801 | RCV000219357|RCV000462222|RCV001840351|RCV001840348|RCV001840350|RCV001840349|RCV002321834; | N | MedGen: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, | 2 | 179458965 | 179458965 | | | 2:g.179458965G>T | ClinGen:CA1992907 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.58122C>G (p.Thr19374=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 189818369 | RCV000040403|RCV000544873|RCV001129932|RCV001129934|RCV001129936|RCV001129933|RCV001129935|RCV001711155|RCV002321519; | N | 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:0011400,MedGen:C1858763,OMIM:604145,Orp | 2 | 179459099 | 179459099 | | | 2:g.179459099G>C | ClinGen:CA140089 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.57847+19del | 7273 | TTN | Benign | 111496283 | RCV000483570|RCV001529875|RCV001798855|RCV001840614|RCV001840616|RCV001840615|RCV001840617; | N | MedGen: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, Orphanet | 2 | 179460215 | 179460215 | | | 2:g.179460215_179460215del | ClinGen:CA1992986 | CN169374 not specified; | |
NM_001267550.2(TTN):c.57683G>A (p.Arg19228His) | 7273 | TTN | Benign/Likely benign | 114711705 | RCV000040398|RCV000458036|RCV000620713|RCV001083744|RCV001839636|RCV001839637|RCV001839638|RCV001839639; | N | MedGen: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:0012127 | 2 | 179460398 | 179460398 | | | 2:g.179460398C>T | ClinGen:CA140076 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.57656A>T (p.Tyr19219Phe) | 7273 | TTN | Conflicting interpretations of pathogenicity | 201541213 | RCV000228391|RCV000313228|RCV000356258|RCV000396308|RCV000352827|RCV000398470|RCV000714055|RCV000764322|RCV001170369|RCV002444755|RCV003235108; | N | 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, Orphanet:609|MON | 2 | 179460425 | 179460425 | | | 2:g.179460425T>A | ClinGen:CA310113 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.57462G>A (p.Gln19154=) | 7273 | TTN | Benign/Likely benign | 72646832 | RCV000040393|RCV000228769|RCV000251167|RCV001529880|RCV001839628|RCV001839629|RCV001839631|RCV001839630; | N | MedGen: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:0012127 | 2 | 179462347 | 179462347 | | | 2:g.179462347C>T | ClinGen:CA283480 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.57315T>C (p.His19105=) | 7273 | TTN | Benign | 35833641 | RCV000040390|RCV000251182|RCV000287439|RCV000295798|RCV000326309|RCV000327457|RCV000387828|RCV000993457|RCV001514402; | N | 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:0011362,MedGen:C1863 | 2 | 179462494 | 179462494 | | | | ClinGen:CA283475 | | |
NM_001267550.2(TTN):c.57112-4C>T | 7273 | TTN | Conflicting interpretations of pathogenicity | 117072049 | RCV001133739|RCV001133740|RCV001133741|RCV001133743|RCV001133742|RCV001170373|RCV001311244|RCV001509980|RCV002436254; | N | 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, Orphanet:154|MON | 2 | 179462789 | 179462789 | | | 2:g.179462789G>A | ClinGen:CA1993094 | CN169374 not specified; | |
NM_001267550.2(TTN):c.56986A>C (p.Lys18996Gln) | 7273 | TTN | Uncertain significance | -1 | RCV003148011|RCV003148014|RCV003148013|RCV003148010|RCV003148012|RCV003148009; | N | 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:C1858763,OMIM:604145,O | 2 | 179463358 | 179463358 | | | | - | | |
NM_001267550.2(TTN):c.56872G>A (p.Asp18958Asn) | 7273 | TTN | Uncertain significance | 576158850 | RCV000152290|RCV000463223|RCV001130909|RCV001130911|RCV001130908|RCV001130910|RCV001130912|RCV003137655; | N | 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:C1837342,OMIM:608807,Orp | 2 | 179463565 | 179463565 | | | 2:g.179463565C>T | ClinGen:CA178686 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.56871C>T (p.Ser18957=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 370619063 | RCV000272727|RCV000277798|RCV000306684|RCV000341744|RCV000364990|RCV000402212|RCV001086859|RCV001170375|RCV002229853; | N | MONDO: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:C26736 | 2 | 179463566 | 179463566 | | | 2:g.179463566G>A | ClinGen:CA1993170 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.56761C>T (p.Leu18921=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 769824680 | RCV000274902|RCV000276033|RCV000318094|RCV000333382|RCV000363749|RCV003298388; | N | 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, Orphanet:178464, | 2 | 179463676 | 179463676 | | | 2:g.179463676G>A | ClinGen:CA1993186 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.56433T>C (p.Asp18811=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 771353550 | RCV001131038|RCV001133996|RCV001133995|RCV001131039|RCV001133997|RCV002064540|RCV003362992; | N | 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, Orphanet:289377|MON | 2 | 179464087 | 179464087 | | | 2:g.179464087A>G | - | | |
NM_001267550.2(TTN):c.56403A>G (p.Gln18801=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 553313488 | RCV000152293|RCV000309495|RCV000308399|RCV000347987|RCV000370125|RCV000397382|RCV000727304|RCV001081455|RCV002433657; | N | 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:C1863599,OMIM:603689,Orp | 2 | 179464117 | 179464117 | | | 2:g.179464117T>C | ClinGen:CA178692 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.56396C>T (p.Ala18799Val) | 7273 | TTN | Uncertain significance | 753746652 | RCV001135508|RCV001135509|RCV001135507|RCV001135510|RCV001135511; | N | 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, Orphanet:178464,Orp | 2 | 179464124 | 179464124 | | | 2:g.179464124G>A | - | | |
NM_001267550.2(TTN):c.56362C>T (p.Pro18788Ser) | 7273 | TTN | Uncertain significance | 1363268909 | RCV000596221|RCV001130435|RCV001135512|RCV001135513|RCV001130436|RCV001135514; | N | 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:0012127,MedGen:C18373 | 2 | 179464158 | 179464158 | | | 2:g.179464158G>A | ClinGen:CA349532716 | CN169374 not specified; | |
NM_001267550.2(TTN):c.56286T>C (p.Tyr18762=) | 7273 | TTN | Uncertain significance | 886055262 | RCV000262704|RCV000277509|RCV000311517|RCV000320219|RCV000368513; | N | 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:C1858763,OMIM:604145,O | 2 | 179464342 | 179464342 | | | 2:g.179464342A>G | ClinGen:CA10612064 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.55932T>C (p.Phe18644=) | 7273 | TTN | Benign/Likely benign | 755839294 | RCV000184109|RCV000643577|RCV001840266|RCV001840267|RCV001840268|RCV001840269|RCV002433823|RCV002500555; | N | 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:C1837342,OMIM:608807,Orp | 2 | 179465699 | 179465699 | | | | ClinGen:CA308956 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.55929A>G (p.Gln18643=) | 7273 | TTN | Benign/Likely benign | 151335428 | RCV000118766|RCV000477604|RCV001080747|RCV001839908|RCV001839909|RCV001839911|RCV001839910|RCV002433612; | N | MedGen: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:C1837342 | 2 | 179465702 | 179465702 | | | 2:g.179465702T>C | ClinGen:CA155874 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.55732+5G>C | 7273 | TTN | Uncertain significance | 878854377 | RCV000598167|RCV000723287; | N | MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609 | 2 | 179465987 | 179465987 | | | 2:g.179465987C>G | ClinGen:CA16616828,ClinVar:424834 | CN169374 not specified; | |
NM_001267550.2(TTN):c.55619T>C (p.Val18540Ala) | 7273 | TTN | Conflicting interpretations of pathogenicity | 779623773 | RCV001130553|RCV001131278|RCV001130552|RCV001131277|RCV001130554; | N | 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:0012714,MedGen:C2673677,OMIM:611705,O | 2 | 179466105 | 179466105 | | | 2:g.179466105A>G | - | | |
NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr) | 7273 | TTN | Conflicting interpretations of pathogenicity | 146608896 | RCV000040375|RCV000228188|RCV000620720|RCV001085000|RCV001131279|RCV001134252|RCV001134254|RCV001134253|RCV001134251; | N | MedGen: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:0011400 | 2 | 179466177 | 179466177 | | | 2:g.179466177A>G | ClinGen:CA283460 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.55512C>T (p.Asp18504=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 377164046 | RCV000152299|RCV000549971|RCV001529448|RCV001840083|RCV001840084|RCV001840085|RCV001840086|RCV002433660; | N | MedGen: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:C1837342 | 2 | 179466212 | 179466212 | | | 2:g.179466212G>A | ClinGen:CA178708 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.55449C>T (p.Pro18483=) | 7273 | TTN | Benign/Likely benign | 187366691 | RCV000154065|RCV000535211|RCV001704119|RCV001840123|RCV001840125|RCV001840126|RCV001840124|RCV002433670; | N | MedGen: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:C1863599 | 2 | 179466275 | 179466275 | | | 2:g.179466275G>A | ClinGen:CA235099 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.55432+5G>C | 7273 | TTN | Conflicting interpretations of pathogenicity | 754717390 | RCV000184239|RCV000278169|RCV000295999|RCV000350933|RCV000331273|RCV000405475|RCV000385626|RCV000546209|RCV001249326|RCV003165414; | N | MedGen: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:C0007 | 2 | 179466380 | 179466380 | | | 2:g.179466380C>G | ClinGen:CA309276 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.55291G>A (p.Glu18431Lys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 756341923 | RCV001128748|RCV001128749|RCV001128750|RCV001135756|RCV001135755|RCV003142054|RCV003413939; | N | 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, Orphanet:140922|MON | 2 | 179466620 | 179466620 | | | 2:g.179466620C>T | - | | |
NM_001267550.2(TTN):c.54947C>G (p.Thr18316Ser) | 7273 | TTN | Benign/Likely benign | 758527900 | RCV000262677|RCV000476068|RCV000619573|RCV001537806|RCV001840460|RCV001840461|RCV001840462|RCV001840463; | N | MedGen: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:0012127 | 2 | 179467182 | 179467182 | | | 2:g.179467182G>C | ClinGen:CA1993552 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.54855G>A (p.Thr18285=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 200410212 | RCV000253274|RCV000274079|RCV000273077|RCV000328156|RCV000333847|RCV000363491|RCV000730063|RCV000608203|RCV001087668; | N | 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:0011362,MedGen:C1863599,OMIM:603689,Orp | 2 | 179467274 | 179467274 | | | 2:g.179467274C>T | ClinGen:CA1993563 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.54818C>T (p.Pro18273Leu) | 7273 | TTN | Conflicting interpretations of pathogenicity | 201035511 | RCV000040367|RCV000172661|RCV000260976|RCV000316224|RCV000341213|RCV000375984|RCV000388261|RCV001086441|RCV001798161|RCV002433515|RCV003398608; | N | MedGen: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:C2673677 | 2 | 179467311 | 179467311 | | | 2:g.179467311G>A | ClinGen:CA139999 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.54812-5A>G | 7273 | TTN | Benign/Likely benign | 375343798 | RCV000152306|RCV000714054|RCV001082262|RCV001840087|RCV001840089|RCV001840088|RCV001840090|RCV002433664; | N | MedGen: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:C1863599 | 2 | 179467322 | 179467322 | | | 2:g.179467322T>C | ClinGen:CA211120 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.54811+15G>A | 7273 | TTN | Conflicting interpretations of pathogenicity | 201450276 | RCV000040366|RCV001134383|RCV001135846|RCV001135848|RCV001135847|RCV001135849|RCV002054794; | N | MedGen: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,Orp | 2 | 179468588 | 179468588 | | | 2:g.179468588C>T | ClinGen:CA139998 | CN169374 not specified; | |
NM_001267550.2(TTN):c.54811+8T>C | 7273 | TTN | Conflicting interpretations of pathogenicity | 747409403 | RCV000604371|RCV001135850|RCV001128851|RCV001135852|RCV001135853|RCV001135851; | N | MedGen: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:C18373 | 2 | 179468595 | 179468595 | | | 2:g.179468595A>G | ClinGen:CA1993574 | CN169374 not specified; | |
NM_001267550.2(TTN):c.54796G>T (p.Ala18266Ser) | 7273 | TTN | Conflicting interpretations of pathogenicity | 199837769 | RCV000228857|RCV000287146|RCV000286006|RCV000307291|RCV000342179|RCV000347210|RCV000395829|RCV000725529|RCV000768991|RCV001262868|RCV002433826; | N | 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:0012127,MedGen:C1837342,OMIM:608807,Orp | 2 | 179468618 | 179468618 | | | 2:g.179468618C>A | ClinGen:CA310076 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.54685G>A (p.Val18229Met) | 7273 | TTN | Conflicting interpretations of pathogenicity | 116142642 | RCV000040363|RCV000461813|RCV001131522|RCV001131523|RCV001131524|RCV001131525|RCV001131526|RCV001699025|RCV002433514; | N | MedGen: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, | 2 | 179468729 | 179468729 | | | 2:g.179468729C>T | ClinGen:CA139984 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.54636T>C (p.Tyr18212=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 397517620 | RCV000464314|RCV001134520|RCV001134516|RCV001134517|RCV001134518|RCV001134519|RCV002436475|RCV003235232; | N | 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, Orphanet:178464,Orp | 2 | 179468778 | 179468778 | | | NC_000002.11:g.179468778A>G | ClinGen:CA16610415 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.54631C>A (p.Pro18211Thr) | 7273 | TTN | Conflicting interpretations of pathogenicity | 727504192 | RCV001134521|RCV001134522|RCV001134523|RCV001135953|RCV001135954|RCV001557794|RCV002436717|RCV003150386; | N | 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, Orphanet:178464,Orp | 2 | 179468783 | 179468783 | | | 2:g.179468783G>T | - | | |
NM_001267550.2(TTN):c.54469A>G (p.Lys18157Glu) | 7273 | TTN | Uncertain significance | 886055263 | RCV000259464|RCV000319374|RCV000320997|RCV000374070|RCV000380211; | N | 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, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179468945 | 179468945 | | | 2:g.179468945T>C | ClinGen:CA10612065 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.54449G>A (p.Ser18150Asn) | 7273 | TTN | Uncertain significance | 886055264 | RCV000290255|RCV000345313|RCV000349849|RCV000381304|RCV000395013; | N | 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, Orphanet:178464, | 2 | 179468965 | 179468965 | | | 2:g.179468965C>T | ClinGen:CA10611654 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.54381+6C>G | 7273 | TTN | Conflicting interpretations of pathogenicity | 368265962 | RCV000040360|RCV000724174|RCV001128980|RCV001128982|RCV001128983|RCV001128981|RCV001131641; | N | MedGen: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, | 2 | 179469429 | 179469429 | | | 2:g.179469429G>C | ClinGen:CA139979 | CN169374 not specified; | |
NM_001267550.2(TTN):c.54348A>T (p.Glu18116Asp) | 7273 | TTN | Conflicting interpretations of pathogenicity | 773746281 | RCV001131646|RCV001131645|RCV001131642|RCV001131643|RCV001131644|RCV001759893|RCV002429772; | N | 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, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179469468 | 179469468 | | | 2:g.179469468T>A | - | | |
NM_001267550.2(TTN):c.54263C>T (p.Ala18088Val) | 7273 | TTN | Uncertain significance | 2054396232 | RCV001132672|RCV001132668|RCV001132669|RCV001132670|RCV001132671; | N | 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:C1858763,OMIM:604145,O | 2 | 179469553 | 179469553 | | | 2:g.179469553G>A | - | | |
NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu) | 7273 | TTN | Conflicting interpretations of pathogenicity | 200968679 | RCV000152311|RCV000643272|RCV000660527|RCV000725049|RCV001129100|RCV001131770|RCV001131767|RCV001131768|RCV001131769|RCV002453497|RCV003149927; | N | MedGen: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, | 2 | 179469744 | 179469744 | | | 2:g.179469744C>G | ClinGen:CA178736 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.54037G>T (p.Ala18013Ser) | 7273 | TTN | Conflicting interpretations of pathogenicity | 531242797 | RCV000261639|RCV000297342|RCV000350885|RCV000356804|RCV000395016|RCV000868806|RCV001551202|RCV002450900; | N | 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, Orphanet:178464, | 2 | 179469867 | 179469867 | | | 2:g.179469867C>A | ClinGen:CA1993706 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.53881+4C>A | 7273 | TTN | Uncertain significance | 187632918 | RCV000267565|RCV000268885|RCV000302857|RCV000357515|RCV000363406; | N | 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, Orphanet:154|MON | 2 | 179470137 | 179470137 | | | 2:g.179470137G>T | ClinGen:CA10611665 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.53708G>A (p.Arg17903His) | 7273 | TTN | Uncertain significance | 755252821 | RCV000172315|RCV000462553|RCV001131887|RCV001131889|RCV001131888|RCV001131890|RCV001131891; | N | MedGen: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, | 2 | 179470314 | 179470314 | | | NC_000002.11:g.179470314C>T | ClinGen:CA237936 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_133378.4(TTN):c.45878-4A>G | 7273 | TTN | Conflicting interpretations of pathogenicity | 772324772 | RCV000294104|RCV000328665|RCV000330362|RCV000383846|RCV000389516|RCV000642881|RCV000727849; | N | 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, Orphanet:178464,Orp | 2 | 179470444 | 179470444 | | | 2:g.179470444T>C | ClinGen:CA1993774 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.53507G>A (p.Arg17836His) | 7273 | TTN | Conflicting interpretations of pathogenicity | 373526624 | RCV000318089|RCV000282260|RCV000337689|RCV000302673|RCV000336131|RCV000394206|RCV000619450|RCV000863478|RCV001798770; | N | MedGen: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:C18587 | 2 | 179471822 | 179471822 | | | 2:g.179471822C>T | ClinGen:CA1993799 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.53322T>G (p.Val17774=) | 7273 | TTN | Uncertain significance | 886055265 | RCV000273245|RCV000308513|RCV000330828|RCV000362101|RCV000363151; | N | 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, Orphanet:609|MON | 2 | 179472007 | 179472007 | | | 2:g.179472007A>C | ClinGen:CA10613098 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.53288-18G>T | 7273 | TTN | Benign/Likely benign | 72646810 | RCV000184107|RCV001840262|RCV001840264|RCV001840263|RCV001840265|RCV002056963|RCV002500554; | N | MedGen: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:C26736 | 2 | 179472059 | 179472059 | | | 2:g.179472059C>A | ClinGen:CA308952 | CN169374 not specified; | |
NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu) | 7273 | TTN | Conflicting interpretations of pathogenicity | 397517612 | RCV000040345|RCV000276975|RCV000278213|RCV000332004|RCV000366890|RCV000372745|RCV000560612|RCV000770011|RCV001719771|RCV002426579; | N | 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:0012127,MedGen:C1837342, | 2 | 179472155 | 179472155 | | | 2:g.179472155A>G | ClinGen:CA139925 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr) | 7273 | TTN | Conflicting interpretations of pathogenicity | 201358641 | RCV000184616|RCV000555766|RCV000764330|RCV001132011|RCV001132953|RCV001132954|RCV001132013|RCV001132012|RCV002453674; | N | MedGen: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,OM | 2 | 179472256 | 179472256 | | | 2:g.179472256A>G | ClinGen:CA310046 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.53142T>C (p.Asp17714=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 373316165 | RCV000725173|RCV001132955|RCV001132956|RCV001132958|RCV001088861|RCV001132957|RCV001132959|RCV002436099; | N | 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:0011400,MedGen:C18587 | 2 | 179472273 | 179472273 | | | 2:g.179472273A>G | ClinGen:CA1993850 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.53100T>C (p.Pro17700=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 373140387 | RCV000265123|RCV000287580|RCV000322690|RCV000379601|RCV000383202|RCV002057621; | N | 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, Orphanet:178464,Orp | 2 | 179472315 | 179472315 | | | 2:g.179472315A>G | ClinGen:CA10611666 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.53100T>G (p.Pro17700=) | 7273 | TTN | Benign/Likely benign | 373140387 | RCV000422241|RCV000864114|RCV001840528|RCV001840529|RCV001840530|RCV001840531|RCV002429366; | N | 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:C1837342,OMIM:608807,Orp | 2 | 179472315 | 179472315 | | | 2:g.179472315A>C | ClinGen:CA1993856 | CN169374 not specified; | |
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His) | 7273 | TTN | Conflicting interpretations of pathogenicity | 72646808 | RCV000040340|RCV000172663|RCV000291245|RCV000315170|RCV000335069|RCV000350259|RCV000404069|RCV000618788|RCV000770012|RCV000852844|RCV001086451|RCV002221192; | N | MedGen: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:00114 | 2 | 179472319 | 179472319 | | | 2:g.179472319C>T | ClinGen:CA139912 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.53095C>T (p.Arg17699Cys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 760963888 | RCV001129413|RCV001129412|RCV001132130|RCV001132129|RCV001132128; | N | 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:C1837342,OMIM:608807,O | 2 | 179472320 | 179472320 | | | 2:g.179472320G>A | - | | |
NM_001267550.2(TTN):c.52948G>A (p.Ala17650Thr) | 7273 | TTN | Conflicting interpretations of pathogenicity | 535008556 | RCV000268363|RCV000264644|RCV000299807|RCV000303761|RCV000360879|RCV000867223|RCV001532425; | N | 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, Orphanet:609|MON | 2 | 179472566 | 179472566 | | | 2:g.179472566C>T | ClinGen:CA310040 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.52908G>C (p.Glu17636Asp) | 7273 | TTN | Conflicting interpretations of pathogenicity | 748175453 | RCV000731713|RCV001133057|RCV001133059|RCV001088270|RCV001136501|RCV001133058|RCV001136500; | N | 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:0011400,MedGen:C18587 | 2 | 179472606 | 179472606 | | | NC_000002.11:g.179472606C>G | - | | |
NM_001267550.2(TTN):c.52709C>T (p.Pro17570Leu) | 7273 | TTN | Uncertain significance | 2055350149 | RCV001132255|RCV001132257|RCV001132256|RCV001132258|RCV001132259; | N | 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, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179472805 | 179472805 | | | 2:g.179472805G>A | - | | |
NM_001267550.2(TTN):c.52702A>G (p.Ile17568Val) | 7273 | TTN | Conflicting interpretations of pathogenicity | 377571654 | RCV000308035|RCV000339816|RCV000361668|RCV000394317|RCV000394227|RCV000474495|RCV001532426|RCV001262302|RCV001798650|RCV002426896|RCV003114341; | N | 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, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179472908 | 179472908 | | | 2:g.179472908T>C | ClinGen:CA310028 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.52526G>A (p.Arg17509His) | 7273 | TTN | Uncertain significance | 886055267 | RCV000287510|RCV000310136|RCV000367112|RCV000390826|RCV000396711|RCV001660689; | N | 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, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179473084 | 179473084 | | | 2:g.179473084C>T | ClinGen:CA1993974 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.52428G>A (p.Lys17476=) | 7273 | TTN | Uncertain significance | 886055268 | RCV000263392|RCV000286106|RCV000320907|RCV000324766|RCV000377900; | N | 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:C1837342,OMIM:608807, Orphanet:140922|MON | 2 | 179473182 | 179473182 | | | 2:g.179473182C>T | ClinGen:CA10611667 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.52142T>C (p.Ile17381Thr) | 7273 | TTN | Uncertain significance | 775637498 | RCV000289508|RCV000293272|RCV000346984|RCV000404265|RCV000404001|RCV001660690; | N | 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, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179473596 | 179473596 | | | 2:g.179473596A>G | ClinGen:CA1994039 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.52110G>A (p.Pro17370=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 139789997 | RCV000040329|RCV000618342|RCV000714048|RCV001086625|RCV001133291|RCV001134736|RCV001134738|RCV001133290|RCV001134737|RCV001798157; | N | MedGen: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:0012127 | 2 | 179473628 | 179473628 | | | | ClinGen:CA283403 | | |
NM_001267550.2(TTN):c.52062C>A (p.Asp17354Glu) | 7273 | TTN | Uncertain significance | 886055269 | RCV000271889|RCV000311904|RCV000335538|RCV000366555|RCV000395280; | N | 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,OMIM:604145,O | 2 | 179473975 | 179473975 | | | 2:g.179473975G>T | ClinGen:CA10613285 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.52032T>C (p.His17344=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 374254751 | RCV001129743|RCV001129744|RCV001129745|RCV001129746|RCV001129747|RCV001461264; | N | 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, Orphanet:178464,Orp | 2 | 179474005 | 179474005 | | | NC_000002.11:g.179474005A>G | ClinGen:CA1994074 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.51885G>T (p.Lys17295Asn) | 7273 | TTN | Uncertain significance | 72632861 | RCV000264527|RCV000268235|RCV000308323|RCV000323406|RCV000378047|RCV002261070; | N | 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, Orphanet:178464,Orp | 2 | 179474152 | 179474152 | | | 2:g.179474152C>A | ClinGen:CA10613287 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.51859G>A (p.Val17287Ile) | 7273 | TTN | Uncertain significance | 1333508634 | RCV001132463|RCV001132465|RCV001132467|RCV001132464|RCV001132466; | N | 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, Orphanet:140922|MON | 2 | 179474178 | 179474178 | | | 2:g.179474178C>T | - | | |
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile) | 7273 | TTN | Conflicting interpretations of pathogenicity | 200650668 | RCV000040327|RCV000227290|RCV000250975|RCV000279940|RCV000294783|RCV000334677|RCV000389173|RCV000374388|RCV000725456|RCV001170610; | N | MedGen: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:C2673677 | 2 | 179474228 | 179474228 | | | 2:g.179474228C>A | ClinGen:CA139879,UniProtKB:Q8WZ42#VAR_040166 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.51712C>T (p.Pro17238Ser) | 7273 | TTN | Conflicting interpretations of pathogenicity | 773035917 | RCV000597287|RCV000852520|RCV001129851|RCV001134844|RCV001134845|RCV001129852|RCV001129853|RCV001798914|RCV002456311; | N | MedGen: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:MONDO | 2 | 179474438 | 179474438 | | | 2:g.179474438G>A | ClinGen:CA1994134 | CN169374 not specified; | |
NM_001267550.2(TTN):c.51678C>T (p.Asn17226=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 372635204 | RCV000152336|RCV000277665|RCV000332647|RCV000372898|RCV000292995|RCV000387269|RCV000724703|RCV001082902|RCV002426725; | N | MedGen: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, | 2 | 179474472 | 179474472 | | | 2:g.179474472G>A | ClinGen:CA178803 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.51672A>C (p.Ala17224=) | 7273 | TTN | Uncertain significance | 755746120 | RCV001133476|RCV001133478|RCV001133475|RCV001133477|RCV001133479; | N | 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, Orphanet:154|MON | 2 | 179474478 | 179474478 | | | 2:g.179474478T>G | - | | |
NM_001267550.2(TTN):c.51625G>A (p.Ala17209Thr) | 7273 | TTN | Uncertain significance | 1292930837 | RCV000577935|RCV000578013|RCV000578066|RCV002456273; | N | 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 | 2 | 179474525 | 179474525 | | | NC_000002.11:g.179474525C>T | ClinGen:CA349583773 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.51527G>C (p.Gly17176Ala) | 7273 | TTN | Conflicting interpretations of pathogenicity | 768961892 | RCV000286117|RCV000344314|RCV000340928|RCV000383600|RCV000390795|RCV000602149|RCV000643212|RCV001697826; | N | 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:C1858763,OMIM:604145,O | 2 | 179474623 | 179474623 | | | 2:g.179474623C>G | ClinGen:CA1994174 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.51359G>A (p.Arg17120His) | 7273 | TTN | Uncertain significance | 778885931 | RCV001129940|RCV001129941|RCV001129937|RCV001129938|RCV001129939|RCV003142058; | N | 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:C1858763,OMIM:604145,O | 2 | 179474894 | 179474894 | | | 2:g.179474894C>T | - | | |
NM_001267550.2(TTN):c.51273G>A (p.Arg17091=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 532589236 | RCV000176342|RCV001129942|RCV001130637|RCV001129943|RCV001130636|RCV001130638|RCV001443544; | N | MedGen: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:C18587 | 2 | 179474980 | 179474980 | | | 2:g.179474980C>T | ClinGen:CA201914 | CN169374 not specified; | |
NM_001267550.2(TTN):c.50994T>C (p.Ser16998=) | 7273 | TTN | Benign/Likely benign | 752023426 | RCV000865935|RCV001712810|RCV001840762|RCV001840764|RCV001840763|RCV001840765; | N | 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:C1863599,OMIM:603689,Orp | 2 | 179475862 | 179475862 | | | 2:g.179475862A>G | - | | |
NM_001267550.2(TTN):c.50551+20C>T | 7273 | TTN | Benign | 67636125 | RCV000125815|RCV001529187|RCV001839964|RCV001839966|RCV001839967|RCV001839965|RCV002055609; | N | MedGen: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:00121 | 2 | 179476465 | 179476465 | | | 2:g.179476465G>A | ClinGen:CA291459 | CN169374 not specified; | |
NM_001267550.2(TTN):c.50538T>C (p.Ile16846=) | 7273 | TTN | Uncertain significance | 763711863 | RCV001130778|RCV001130779|RCV001130780|RCV001130781|RCV001130782; | N | 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,OMIM:608807,Orph | 2 | 179476498 | 179476498 | | | 2:g.179476498A>G | - | | |
NM_001267550.2(TTN):c.50363T>C (p.Ile16788Thr) | 7273 | TTN | Conflicting interpretations of pathogenicity | 397517599 | RCV000040312|RCV000284717|RCV000288386|RCV000324575|RCV000339767|RCV000404730|RCV000539364|RCV000770017|RCV001703901|RCV002426575; | N | 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,MedGen:C1837342,OMIM:608807,Orp | 2 | 179476673 | 179476673 | | | 2:g.179476673A>G | ClinGen:CA139836 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.50355-3T>C | 7273 | TTN | Uncertain significance | 1172932037 | RCV001135240|RCV001135239|RCV001135241|RCV001135242|RCV001135243; | N | 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, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179476684 | 179476684 | | | 2:g.179476684A>G | - | | |
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr) | 7273 | TTN | Benign/Likely benign | 36043230 | RCV000040307|RCV000204166|RCV000244572|RCV000266856|RCV000270310|RCV000310132|RCV000325432|RCV000361487|RCV000993448; | N | MedGen: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:C1858763 | 2 | 179477267 | 179477267 | | | 2:g.179477267T>G | ClinGen:CA283355 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.49944G>A (p.Lys16648=) | 7273 | TTN | Benign/Likely benign | 190021597 | RCV000118761|RCV000643443|RCV001086196|RCV001839900|RCV001839901|RCV001839902|RCV001839903|RCV002444572; | N | MedGen: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:C1837342 | 2 | 179477504 | 179477504 | | | NC_000002.11:g.179477504C>T | ClinGen:CA155866 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.49758T>C (p.Tyr16586=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 72677247 | RCV000213520|RCV000725262|RCV001079373|RCV001130913|RCV001130914|RCV001130915|RCV001130916|RCV001133881|RCV002444859; | N | MedGen: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:C1858763 | 2 | 179477690 | 179477690 | | | NC_000002.11:g.179477690A>G | ClinGen:CA1994518 | CN169374 not specified; | |
NM_001267550.2(TTN):c.49731T>C (p.His16577=) | 7273 | TTN | Benign | 2115558 | RCV000040305|RCV000249643|RCV000294068|RCV000309404|RCV000349073|RCV000388378|RCV000404325|RCV000460402|RCV001795027; | N | MedGen: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:00127 | 2 | 179477717 | 179477717 | | | 2:g.179477717A>G | ClinGen:CA283350 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.49648+16T>C | 7273 | TTN | Benign | 57677875 | RCV000125811|RCV001529215|RCV001839960|RCV001839961|RCV001839962|RCV002055608|RCV001839963|RCV002498611; | N | MedGen: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:00114 | 2 | 179477872 | 179477872 | | | 2:g.179477872A>G | ClinGen:CA291458 | CN169374 not specified; | |
NM_001267550.2(TTN):c.49648+13T>A | 7273 | TTN | Conflicting interpretations of pathogenicity | 368996176 | RCV000218302|RCV001133882|RCV001133883|RCV001135386|RCV001135388|RCV001135387|RCV002054956; | N | MedGen: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:C18587 | 2 | 179477875 | 179477875 | | | NC_000002.11:g.179477875A>T | ClinGen:CA1994555 | CN169374 not specified; | |
NM_001267550.2(TTN):c.49436G>A (p.Gly16479Asp) | 7273 | TTN | Uncertain significance | 2056796893 | RCV001130341|RCV001130339|RCV001130340|RCV001131040|RCV001131041; | N | 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:C1858763,OMIM:604145,O | 2 | 179478574 | 179478574 | | | 2:g.179478574C>T | - | | |
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 202094100 | RCV000040300|RCV000184581|RCV000248683|RCV000275689|RCV000317820|RCV000330719|RCV000357355|RCV000372520|RCV000560033|RCV000764335|RCV001170837|RCV003407411; | N | MedGen: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:0012714 | 2 | 179478597 | 179478597 | | | 2:g.179478597C>A | ClinGen:CA139810 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.49367G>A (p.Arg16456His) | 7273 | TTN | Conflicting interpretations of pathogenicity | 768914789 | RCV000172318|RCV000290799|RCV000289489|RCV000342229|RCV000381631|RCV000387541|RCV002415735|RCV002469044; | N | 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:0012714,MedGen:C2673677, | 2 | 179478643 | 179478643 | | | 2:g.179478643C>T | ClinGen:CA237945 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.49263C>T (p.Tyr16421=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 376188859 | RCV000300967|RCV000302290|RCV000340868|RCV000353745|RCV000405891|RCV000734070|RCV001079002|RCV001723920|RCV002429296; | N | 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:C1858763,OMIM:604145,O | 2 | 179478861 | 179478861 | | | 2:g.179478861G>A | ClinGen:CA1994642 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.49211C>T (p.Thr16404Ile) | 7273 | TTN | Uncertain significance | 2056867382 | RCV001131162|RCV001131163|RCV001131164|RCV001131165|RCV001131166; | N | 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:C1858763,OMIM:604145,O | 2 | 179478913 | 179478913 | | | 2:g.179478913G>A | - | | |
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln) | 7273 | TTN | Conflicting interpretations of pathogenicity | 200944827 | RCV000222990|RCV000643008|RCV000724717|RCV001134129|RCV001134128|RCV001134130|RCV001134131|RCV001134132|RCV002426845; | N | MedGen: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:C1837342 | 2 | 179478952 | 179478952 | | | 2:g.179478952C>T | ClinGen:CA302836,UniProtKB:Q8WZ42#VAR_074294 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.49126C>T (p.Arg16376Cys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 772152172 | RCV000218703|RCV001135634|RCV001134133|RCV001135635|RCV001135633|RCV001135636; | N | MedGen: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, | 2 | 179478998 | 179478998 | | | 2:g.179478998G>A | ClinGen:CA1994670 | CN169374 not specified; | |
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) | 7273 | TTN | Conflicting interpretations of pathogenicity | 72677243 | RCV000040295|RCV000172665|RCV000247886|RCV000655929|RCV000768997|RCV001083138|RCV001130555|RCV001131281|RCV001131282|RCV001131280; | N | MedGen: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, Orphanet | 2 | 179479288 | 179479288 | | | 2:g.179479288A>G | ClinGen:CA139797 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.48760+8T>C | 7273 | TTN | Uncertain significance | 2057012531 | RCV001134260|RCV001134262|RCV001134261|RCV001134263|RCV001134259; | N | 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, Orphanet:154|MON | 2 | 179479566 | 179479566 | | | 2:g.179479566A>G | - | | |
NM_001267550.2(TTN):c.48671G>C (p.Trp16224Ser) | 7273 | TTN | Uncertain significance | 886055270 | RCV000310376|RCV000314818|RCV000362711|RCV000368663|RCV000397037|RCV002429297; | N | 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, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179479663 | 179479663 | | | 2:g.179479663C>G | ClinGen:CA10613288 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.48595T>C (p.Ser16199Pro) | 7273 | TTN | Conflicting interpretations of pathogenicity | 752629624 | RCV000172322|RCV001128754|RCV001128753|RCV001128751|RCV001128752|RCV001135757|RCV001798614; | N | 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:0012127,MedGen:C1837342,OMIM:608807,Orp | 2 | 179480077 | 179480077 | | | 2:g.179480077A>G | ClinGen:CA237954 | CN517202 not provided; | |
NM_001267550.2(TTN):c.48462G>A (p.Thr16154=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 202141158 | RCV000617431|RCV000724694|RCV001083383|RCV001128757|RCV001128758|RCV001128756|RCV001131393|RCV001128755; | N | 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:0011400,MedGen:C1858763 | 2 | 179480210 | 179480210 | | | 2:g.179480210C>T | ClinGen:CA242012 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.48461C>T (p.Thr16154Met) | 7273 | TTN | Conflicting interpretations of pathogenicity | 771120250 | RCV000231241|RCV001131398|RCV001131394|RCV001131396|RCV001131395|RCV001131397; | N | 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, Orphanet:609|MON | 2 | 179480211 | 179480211 | | | NC_000002.11:g.179480211G>A | ClinGen:CA1994807 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.48460+8C>T | 7273 | TTN | Benign/Likely benign | 2288565 | RCV000040292|RCV000264758|RCV000282550|RCV000323443|RCV000322298|RCV000361671|RCV000462445|RCV000769001; | N | MedGen: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, | 2 | 179480360 | 179480360 | | | 2:g.179480360G>A | ClinGen:CA283327 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.48353A>G (p.Asp16118Gly) | 7273 | TTN | Conflicting interpretations of pathogenicity | 376273101 | RCV000155973|RCV000172667|RCV000242630|RCV001085935|RCV001128852|RCV001128853|RCV001135859|RCV001135860|RCV001135861; | N | MedGen: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:0011400 | 2 | 179480475 | 179480475 | | | 2:g.179480475T>C | ClinGen:CA183909 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.48106A>C (p.Lys16036Gln) | 7273 | TTN | Uncertain significance | 886055271 | RCV000294386|RCV000294552|RCV000351768|RCV000373601|RCV000392516|RCV000456735; | N | 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, Orphanet:178464,Orp | 2 | 179481510 | 179481510 | | | 2:g.179481510T>G | ClinGen:CA10613108 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.48099T>C (p.Tyr16033=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 760816246 | RCV001131528|RCV001131530|RCV001131529|RCV001131527|RCV001134524; | N | 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:C1863599,OMIM:603689, Orphanet:178464,Orp | 2 | 179481517 | 179481517 | | | 2:g.179481517A>G | - | | |
NM_001267550.2(TTN):c.48073A>T (p.Ser16025Cys) | 7273 | TTN | Uncertain significance | 1185643168 | RCV001332832|RCV003135990; | N | MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609|MedGen:CN517202 | 2 | 179481543 | 179481543 | | | 179481543 | - | | |
NM_001267550.2(TTN):c.48054C>T (p.Ala16018=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 779940754 | RCV000306033|RCV000307343|RCV000347059|RCV000364155|RCV000405787|RCV000441561|RCV002057622; | N | 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,OMIM:608807,Orph | 2 | 179481562 | 179481562 | | | 2:g.179481562G>A | ClinGen:CA1994923 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.48024G>T (p.Arg16008=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 780824428 | RCV000259842|RCV000265830|RCV000299870|RCV000357009|RCV000358516|RCV002057623; | N | 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,OMIM:608807,Orph | 2 | 179481592 | 179481592 | | | 2:g.179481592C>A | ClinGen:CA1994926 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.47978C>A (p.Thr15993Asn) | 7273 | TTN | Conflicting interpretations of pathogenicity | 727503622 | RCV000152345|RCV000277761|RCV000291298|RCV000330386|RCV000343952|RCV000388479|RCV000553961|RCV002415642|RCV003137657; | N | MedGen: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,Orp | 2 | 179481638 | 179481638 | | | 2:g.179481638G>T | ClinGen:CA178829 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.47875+12T>G | 7273 | TTN | Conflicting interpretations of pathogenicity | 758849410 | RCV001131654|RCV001132674|RCV001132676|RCV001132673|RCV001132675; | N | 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, Orphanet:140922|MON | 2 | 179481835 | 179481835 | | | 2:g.179481835A>C | - | | |
NM_001267550.2(TTN):c.47740G>C (p.Val15914Leu) | 7273 | TTN | Conflicting interpretations of pathogenicity | 764059405 | RCV000535141|RCV001136069|RCV001136070|RCV001136071|RCV001136072|RCV001136073|RCV003139798; | N | 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, Orphanet:178464,Orp | 2 | 179482072 | 179482072 | | | NC_000002.11:g.179482072C>G | ClinGen:CA1994994 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.47570T>C (p.Ile15857Thr) | 7273 | TTN | Uncertain significance | 886055272 | RCV000281268|RCV000286990|RCV000339770|RCV000378024|RCV000393058|RCV001764304|RCV002487472; | N | 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:C1858763,OMIM:604145,O | 2 | 179482508 | 179482508 | | | 2:g.179482508A>G | ClinGen:CA10611671 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr) | 7273 | TTN | Conflicting interpretations of pathogenicity | 146181477 | RCV000040283|RCV000082410|RCV000299345|RCV000314422|RCV000349511|RCV000369133|RCV000406274|RCV000619989|RCV000852853|RCV001083906|RCV001798153; | N | MedGen: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:00127 | 2 | 179482533 | 179482533 | | | 2:g.179482533G>T | ClinGen:CA139762 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.47400G>A (p.Lys15800=) | 7273 | TTN | Benign/Likely benign | 114145817 | RCV000040281|RCV000203864|RCV000243465|RCV000292912|RCV000317783|RCV000318488|RCV000372120|RCV000387078|RCV000769008|RCV001082097; | N | MedGen: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:0012127 | 2 | 179482678 | 179482678 | | | | ClinGen:CA283303 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.47379C>T (p.Tyr15793=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 374281025 | RCV000214390|RCV000533563|RCV001129198|RCV001129200|RCV001129201|RCV001129197|RCV001129199|RCV001170841|RCV001711997|RCV002415898; | N | 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:C1837342,OMIM:608807,Orp | 2 | 179482699 | 179482699 | | | 2:g.179482699G>A | ClinGen:CA1995054 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln) | 7273 | TTN | Conflicting interpretations of pathogenicity | 72677233 | RCV000040280|RCV000225870|RCV000254435|RCV000308756|RCV000343876|RCV000352447|RCV000392384|RCV000404240|RCV000852855|RCV001083111|RCV001798152; | N | MedGen: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|M | 2 | 179482763 | 179482763 | | | 2:g.179482763C>T | ClinGen:CA139757 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.47278G>A (p.Gly15760Ser) | 7273 | TTN | Uncertain significance | 372404266 | RCV000244394|RCV000330542|RCV000724923|RCV001131896|RCV001131892|RCV001131893|RCV001131894|RCV001131895; | N | MedGen: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:0012714 | 2 | 179482800 | 179482800 | | | NC_000002.11:g.179482800C>T | ClinGen:CA1995074 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=) | 7273 | TTN | Benign/Likely benign | 76081119 | RCV000040279|RCV000260454|RCV000305182|RCV000316101|RCV000358832|RCV000359822|RCV000619432|RCV000714041|RCV001082040|RCV001798151; | N | MedGen: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:C26736 | 2 | 179482807 | 179482807 | | | | ClinGen:CA283298 | | |
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) | 7273 | TTN | Conflicting interpretations of pathogenicity | 72677232 | RCV000040278|RCV000172668|RCV000251802|RCV000262089|RCV000296178|RCV000331321|RCV000332423|RCV000385584|RCV000767391|RCV000769009|RCV001082393; | N | MedGen: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|M | 2 | 179482937 | 179482937 | | | 2:g.179482937C>T | ClinGen:CA139752 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 72677231 | RCV000040277|RCV000206445|RCV000253777|RCV000283374|RCV000291644|RCV000343176|RCV000346585|RCV000382285|RCV000769010|RCV001081905; | N | MedGen: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|M | 2 | 179482994 | 179482994 | | | 2:g.179482994G>A | ClinGen:CA139747 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.47133A>G (p.Ala15711=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 573218266 | RCV000437070|RCV000544867|RCV000617243|RCV001129309|RCV001129310|RCV001129311|RCV001129312|RCV001136291|RCV001288118; | N | MedGen: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:C2673677 | 2 | 179483052 | 179483052 | | | 2:g.179483052T>C | ClinGen:CA1995117 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.46884G>A (p.Lys15628=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 760251812 | RCV000269951|RCV000273542|RCV000314523|RCV000325000|RCV000385186|RCV000842277|RCV001437186|RCV002418195; | N | 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, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179483393 | 179483393 | | | NC_000002.11:g.179483393C>T | ClinGen:CA1995156 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.46880C>T (p.Ala15627Val) | 7273 | TTN | Conflicting interpretations of pathogenicity | 115813214 | RCV000040276|RCV000272075|RCV000287419|RCV000322491|RCV000342339|RCV000377170|RCV000470629|RCV000617450|RCV001719770; | N | 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:C1863599,OMIM:603689,Orp | 2 | 179483397 | 179483397 | | | 2:g.179483397G>A | ClinGen:CA139743 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.46847C>T (p.Thr15616Met) | 7273 | TTN | Conflicting interpretations of pathogenicity | 368057764 | RCV000156822|RCV000279104|RCV000312780|RCV000338432|RCV000406384|RCV000407419|RCV000714039|RCV001087961|RCV001798523; | N | MedGen: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, | 2 | 179483430 | 179483430 | | | 2:g.179483430G>A | ClinGen:CA185646 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.46800A>G (p.Glu15600=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 190058852 | RCV000264075|RCV000308815|RCV000314013|RCV000358919|RCV000364052|RCV000423513|RCV000643205|RCV001311255|RCV002418196; | N | 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:C2673677,OMIM:611705, Orphanet:289377|MON | 2 | 179483477 | 179483477 | | | 2:g.179483477T>C | ClinGen:CA1995166 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.46773T>C (p.Tyr15591=) | 7273 | TTN | Uncertain significance | 397517586 | RCV000260380|RCV000280843|RCV000315704|RCV000378459|RCV000374957; | N | 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:C1858763,OMIM:604145,O | 2 | 179483504 | 179483504 | | | 2:g.179483504A>G | ClinGen:CA10613113 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.46483G>A (p.Ala15495Thr) | 7273 | TTN | Conflicting interpretations of pathogenicity | 537428006 | RCV000287871|RCV000295969|RCV000351115|RCV000385804|RCV000407698|RCV000869607|RCV003137953; | N | 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:C1837342,OMIM:608807,O | 2 | 179484561 | 179484561 | | | 2:g.179484561C>T | ClinGen:CA1995229 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.46386C>T (p.Cys15462=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 147703145 | RCV000040269|RCV000557245|RCV001133065|RCV001133061|RCV001133062|RCV001133063|RCV001133064|RCV002408533|RCV003326338; | N | MedGen: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, | 2 | 179484758 | 179484758 | | | | ClinGen:CA283286 | | |
NM_001267550.2(TTN):c.46344del (p.Ile15448_Ile15449insTer) | 7273 | TTN | Likely pathogenic | -1 | RCV003333297|RCV003333293|RCV003333294|RCV003333295|RCV003333296|RCV003333298; | N | MONDO: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|MOND | 2 | 179484800 | 179484800 | | | | - | | |
NM_001267550.2(TTN):c.46226T>C (p.Val15409Ala) | 7273 | TTN | Uncertain significance | -1 | RCV003148434|RCV003148435|RCV003148436|RCV003148438|RCV003148437|RCV003148439; | N | 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|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689, Orphanet:178464, Orphanet:34521|MOND | 2 | 179485022 | 179485022 | | | | - | | |
NM_001267550.2(TTN):c.46142T>C (p.Val15381Ala) | 7273 | TTN | Benign/Likely benign | 369269320 | RCV000473931|RCV001374698|RCV001840589|RCV001840586|RCV001840587|RCV001840588; | N | MONDO: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, | 2 | 179485106 | 179485106 | | | NC_000002.11:g.179485106A>G | ClinGen:CA1995300 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn) | 7273 | TTN | Conflicting interpretations of pathogenicity | 397517583 | RCV000040265|RCV000303308|RCV000304633|RCV000347554|RCV000358217|RCV000407706|RCV000406048|RCV000727270|RCV000770026|RCV001079806; | N | MedGen: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:28 | 2 | 179485183 | 179485183 | | | 2:g.179485183C>G | ClinGen:CA139717 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.45942G>T (p.Met15314Ile) | 7273 | TTN | Uncertain significance | 2058108323 | RCV001129514|RCV001129512|RCV001129513|RCV001132260|RCV001132261; | N | 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, Orphanet:178464,Orp | 2 | 179485306 | 179485306 | | | 2:g.179485306C>A | - | | |
NM_001267550.2(TTN):c.45893A>G (p.Glu15298Gly) | 7273 | TTN | Uncertain significance | 886055274 | RCV000286013|RCV000299175|RCV000356188|RCV000391728|RCV000391753|RCV002504122; | N | 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,OMIM:608807,Orph | 2 | 179485444 | 179485444 | | | 2:g.179485444T>C | ClinGen:CA10613312 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.45786C>T (p.Tyr15262=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 532009022 | RCV001133170|RCV001133171|RCV001133172|RCV001133173|RCV001132262|RCV002411641; | N | 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, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179485551 | 179485551 | | | 2:g.179485551G>A | - | | |
NM_001267550.2(TTN):c.45746A>G (p.Asp15249Gly) | 7273 | TTN | Uncertain significance | 2058157979 | RCV001133174|RCV001133176|RCV001133175|RCV001133177|RCV001134642; | N | 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, Orphanet:178464, | 2 | 179485591 | 179485591 | | | 2:g.179485591T>C | - | | |
NM_001267550.2(TTN):c.45738T>C (p.Ala15246=) | 7273 | TTN | Benign/Likely benign | 2303829 | RCV000040263|RCV000254247|RCV000276370|RCV000311531|RCV000333831|RCV000368514|RCV000403696|RCV000457344|RCV000993443; | N | MedGen: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:C1858 | 2 | 179485599 | 179485599 | | | | ClinGen:CA283281 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.45653G>A (p.Arg15218Gln) | 7273 | TTN | Uncertain significance | 548035065 | RCV001129631|RCV001129633|RCV001129632|RCV001129634|RCV001129630|RCV003142056; | N | 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, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179485684 | 179485684 | | | 2:g.179485684C>T | - | | |
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly) | 7273 | TTN | Conflicting interpretations of pathogenicity | 201057307 | RCV000040261|RCV000118756|RCV000282960|RCV000378515|RCV000385022|RCV000621910|RCV000767850|RCV000986939|RCV001085279|RCV003149647; | N | MedGen: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|M | 2 | 179485846 | 179485846 | | | 2:g.179485846G>C | ClinGen:CA248648,OMIM:188840.0018,ClinVar:424837 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.45350-13T>C | 7273 | TTN | Benign/Likely benign | 113084617 | RCV000154639|RCV001133297|RCV001134741|RCV001134742|RCV001134740|RCV001134739|RCV001795239|RCV002055607; | N | MedGen: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, | 2 | 179486108 | 179486108 | | | 2:g.179486108A>G | ClinGen:CA295666 | CN169374 not specified; | |
NM_001267550.2(TTN):c.45212T>C (p.Ile15071Thr) | 7273 | TTN | Conflicting interpretations of pathogenicity | 184078045 | RCV000260782|RCV000266937|RCV000310252|RCV000324442|RCV000359282|RCV000471038|RCV000725050|RCV002408819; | N | 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:0011400,MedGen:C1858763,OMIM:604145,O | 2 | 179486339 | 179486339 | | | 2:g.179486339A>G | ClinGen:CA309841,UniProtKB:Q8WZ42#VAR_040151 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.45206A>T (p.Glu15069Val) | 7273 | TTN | Benign/Likely benign | 114331773 | RCV000040253|RCV000203743|RCV000248617|RCV000295935|RCV000318299|RCV000349640|RCV000375218|RCV000387891|RCV000770034|RCV001811295; | N | MedGen: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:C1858763 | 2 | 179486345 | 179486345 | | | 2:g.179486345T>A | ClinGen:CA283264 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.45120T>G (p.Ile15040Met) | 7273 | TTN | Benign/Likely benign | 74580375 | RCV000082404|RCV000537993|RCV001133380|RCV001133381|RCV001133382|RCV001134846|RCV001134847|RCV001811387|RCV002399471; | N | 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:0011400,MedGen:C1858763,OMIM:604145,Orp | 2 | 179486431 | 179486431 | | | 2:g.179486431A>C | ClinGen:CA149425,UniProtKB:Q8WZ42#VAR_040148 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.45083-10A>G | 7273 | TTN | Benign/Likely benign | 72677222 | RCV000040250|RCV000206822|RCV000303710|RCV000308610|RCV000343801|RCV000347154|RCV000407700|RCV000770036|RCV001529823; | N | 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:C1837342,OMIM:608807,Orp | 2 | 179486478 | 179486478 | | | 2:g.179486478T>C | ClinGen:CA283258 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.45054G>A (p.Ala15018=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 781392140 | RCV000262626|RCV000268335|RCV000320230|RCV000355134|RCV000360752|RCV000457525|RCV001798788|RCV002402057|RCV003137954; | N | 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, Orphanet:609|MON | 2 | 179486595 | 179486595 | | | 2:g.179486595C>T | ClinGen:CA1995513 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.44999T>C (p.Ile15000Thr) | 7273 | TTN | Uncertain significance | 886055275 | RCV000275109|RCV000288471|RCV000327043|RCV000332590|RCV000389457; | N | 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,OMIM:611705,Orph | 2 | 179486650 | 179486650 | | | 2:g.179486650A>G | ClinGen:CA10613114 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.44913+10dup | 7273 | TTN | Uncertain significance | 745700983 | RCV000286392|RCV000291845|RCV000334530|RCV000339854|RCV000383933|RCV000398583|RCV002487473; | N | MONDO: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 O | 2 | 179487386 | 179487387 | | | 2:g.179487386_179487387insA | ClinGen:CA1995546 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.44815+14T>C | 7273 | TTN | Uncertain significance | 2058737403 | RCV001132567|RCV001132568|RCV001132569|RCV001132570|RCV001132566; | N | 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, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179489178 | 179489178 | | | 2:g.179489178A>G | - | | |
NM_001267550.2(TTN):c.44599G>A (p.Gly14867Arg) | 7273 | TTN | Conflicting interpretations of pathogenicity | 144848584 | RCV000271481|RCV000277289|RCV000328849|RCV000363601|RCV000376613|RCV000732908|RCV001479457|RCV003317194; | N | 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:C1858763,OMIM:604145, Orphanet:154|MON | 2 | 179489408 | 179489408 | | | 2:g.179489408C>T | ClinGen:CA1995602 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.44593G>A (p.Glu14865Lys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 543102139 | RCV000216762|RCV000284481|RCV000341707|RCV000401971|RCV000286745|RCV000380150|RCV000534179|RCV001722171|RCV001798708; | N | 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:C2673677,OMIM:611705,Orp | 2 | 179489414 | 179489414 | | | 2:g.179489414C>T | ClinGen:CA1995603 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.44519T>A (p.Phe14840Tyr) | 7273 | TTN | Uncertain significance | 886055276 | RCV000260165|RCV000273583|RCV000319258|RCV000355350|RCV000367926|RCV002488709; | N | 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, Orphanet:140922|MON | 2 | 179490029 | 179490029 | | | 2:g.179490029A>T | ClinGen:CA10611673 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.44419G>A (p.Asp14807Asn) | 7273 | TTN | Uncertain significance | 753053245 | RCV000311870|RCV000345875|RCV000351629|RCV000381280|RCV000407836|RCV000546755|RCV002487474; | N | 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:C1858763,OMIM:604145,O | 2 | 179494033 | 179494033 | | | 2:g.179494033C>T | ClinGen:CA1995650 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.44413C>G (p.Pro14805Ala) | 7273 | TTN | Uncertain significance | 753926213 | RCV001133614|RCV001133615|RCV001135105|RCV001135107|RCV001135106|RCV000643458; | N | 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, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179494039 | 179494039 | | | 2:g.179494039G>C | ClinGen:CA1995653 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.44373T>C (p.Asp14791=) | 7273 | TTN | Uncertain significance | 772552324 | RCV001135112|RCV001135108|RCV001135109|RCV001135110|RCV001135111; | N | 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,OMIM:608807,Orph | 2 | 179494079 | 179494079 | | | 2:g.179494079A>G | - | | |
NM_001267550.2(TTN):c.44273G>A (p.Arg14758Gln) | 7273 | TTN | Uncertain significance | 770389312 | RCV000555068|RCV000592311|RCV001130788|RCV001130789|RCV001130790|RCV001130787|RCV001130786|RCV002476161; | N | MONDO: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,Orp | 2 | 179494976 | 179494976 | | | NC_000002.11:g.179494976C>T | ClinGen:CA1995705 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.44229G>A (p.Gly14743=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 376445406 | RCV000868047|RCV001133751|RCV001130791|RCV001133748|RCV001133749|RCV001133750|RCV001433548|RCV002409058; | N | 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:0012714,MedGen:C26736 | 2 | 179495020 | 179495020 | | | 2:g.179495020C>T | - | | |
NM_001267550.2(TTN):c.44096C>G (p.Ser14699Cys) | 7273 | TTN | Uncertain significance | 1293270234 | RCV001135247|RCV001135249|RCV001135246|RCV001135248|RCV001135245; | N | 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,OMIM:611705,Orph | 2 | 179495589 | 179495589 | | | 2:g.179495589G>C | - | | |
NM_001267550.2(TTN):c.43704A>G (p.Val14568=) | 7273 | TTN | Benign/Likely benign | 368783829 | RCV000427816|RCV001840523|RCV001840520|RCV001840521|RCV001840522|RCV002061564|RCV003150203; | N | 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:C1863599,OMIM:603689, | 2 | 179496917 | 179496917 | | | 2:g.179496917T>C | ClinGen:CA1995815 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.43691C>G (p.Ser14564Cys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 377015571 | RCV000548147|RCV001130211|RCV001130212|RCV001130213|RCV001130214|RCV001130215; | N | 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, Orphanet:609|MONDO: | 2 | 179496930 | 179496930 | | | 2:g.179496930G>C | ClinGen:CA1995817 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr) | 7273 | TTN | Conflicting interpretations of pathogenicity | 181189778 | RCV000040242|RCV000463518|RCV000725048|RCV000852859|RCV001130917|RCV001130918|RCV001130920|RCV001130919|RCV001130921|RCV001171013|RCV002399389; | N | MedGen: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:600334 | 2 | 179496931 | 179496931 | | | 2:g.179496931A>T | ClinGen:CA139670 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys) | 7273 | TTN | Benign/Likely benign | 12471771 | RCV000040241|RCV000125798|RCV000233625|RCV000247086|RCV000267677|RCV000304124|RCV000298987|RCV000338748|RCV000407844|RCV000769018; | N | MedGen: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:0011400 | 2 | 179497018 | 179497018 | | | 2:g.179497018G>A | ClinGen:CA232496 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.43596T>C (p.Asn14532=) | 7273 | TTN | Benign | 16866423 | RCV000040240|RCV000246219|RCV000264203|RCV000270033|RCV000325289|RCV000328609|RCV000383197|RCV000465625|RCV000769019|RCV000993440; | N | MedGen: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:00114 | 2 | 179497025 | 179497025 | | | 2:g.179497025A>G | ClinGen:CA283239 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.43481-16dup | 7273 | TTN | Benign/Likely benign | 730880350 | RCV000155834|RCV000468420|RCV001697151|RCV001840167|RCV001840168|RCV001840169|RCV001840170; | N | MedGen: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:C1837342 | 2 | 179497148 | 179497149 | | | 2:g.179497148_179497149insA | ClinGen:CA183621 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.43100T>C (p.Ile14367Thr) | 7273 | TTN | Uncertain significance | 397517572 | RCV000040235|RCV000642944|RCV001134006|RCV001134007|RCV001134008|RCV001134009|RCV001134010; | N | MedGen: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,Orp | 2 | 179497758 | 179497758 | | | 2:g.179497758A>G | ClinGen:CA139653 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.42978C>T (p.Tyr14326=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 369959066 | RCV000154952|RCV000228754|RCV000253166|RCV001134012|RCV001134011|RCV001134013|RCV001135518|RCV001135519|RCV001171015|RCV001719967; | N | MedGen: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:C1858763 | 2 | 179498022 | 179498022 | | | 2:g.179498022G>A | ClinGen:CA181817 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.42950G>C (p.Arg14317Pro) | 7273 | TTN | Conflicting interpretations of pathogenicity | 727505144 | RCV000273360|RCV000279393|RCV000315812|RCV000373977|RCV000380458|RCV000865015|RCV001721156; | N | 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, Orphanet:140922|MON | 2 | 179498050 | 179498050 | | | 2:g.179498050C>G | ClinGen:CA309802 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.42933T>C (p.Asn14311=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 148528251 | RCV000263333|RCV000552297|RCV001130440|RCV001130441|RCV001130443|RCV001131170|RCV001130442|RCV002401979|RCV003235174; | N | MedGen: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, | 2 | 179498153 | 179498153 | | | 2:g.179498153A>G | ClinGen:CA1995991 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.42891C>T (p.Gly14297=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 550471556 | RCV000156052|RCV000292039|RCV000285996|RCV000341059|RCV000346971|RCV000401479|RCV000456625|RCV000617426; | N | 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:C1863599,OMIM:603689, | 2 | 179498195 | 179498195 | | | 2:g.179498195G>A | ClinGen:CA184077 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.42783A>G (p.Lys14261=) | 7273 | TTN | Benign | 16866425 | RCV000040229|RCV000250133|RCV000263674|RCV000313122|RCV000371381|RCV000367809|RCV000407479|RCV001517438; | N | MedGen: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:C1863599 | 2 | 179498303 | 179498303 | | | | ClinGen:CA283224 | | |
NM_001267550.2(TTN):c.42434T>C (p.Met14145Thr) | 7273 | TTN | Uncertain significance | 794729427 | RCV000184512|RCV000260211|RCV000282780|RCV000318789|RCV000322746|RCV000355036|RCV000769024|RCV002390480; | N | 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:0012714,MedGen:C26736 | 2 | 179498792 | 179498792 | | | 2:g.179498792A>G | ClinGen:CA309793 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) | 7273 | TTN | Conflicting interpretations of pathogenicity | 34706299 | RCV000040225|RCV000172337|RCV000294831|RCV000328437|RCV000343733|RCV000383259|RCV000399696|RCV000618332|RCV001079995|RCV002225277; | N | MedGen: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:00114 | 2 | 179499179 | 179499179 | | | 2:g.179499179A>G | ClinGen:CA139618 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.42256T>A (p.Ser14086Thr) | 7273 | TTN | Uncertain significance | 777451130 | RCV000298653|RCV000300792|RCV000349716|RCV000401656|RCV000408364|RCV002488710|RCV003137955; | N | 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,OMIM:608807,Orph | 2 | 179499252 | 179499252 | | | 2:g.179499252A>T | ClinGen:CA1996115 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.42156C>T (p.Ile14052=) | 7273 | TTN | Benign/Likely benign | 76815324 | RCV000040223|RCV000246384|RCV000270217|RCV000292230|RCV000332334|RCV000388973|RCV000380975|RCV000474772|RCV000769026; | N | MedGen: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:C1863599 | 2 | 179499352 | 179499352 | | | | ClinGen:CA283214 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.42071A>G (p.His14024Arg) | 7273 | TTN | Benign/Likely benign | 2288563 | RCV000040222|RCV000245057|RCV000281810|RCV000334537|RCV000339841|RCV000373760|RCV000398430|RCV000475964|RCV000993437; | N | MedGen: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:00121 | 2 | 179499530 | 179499530 | | | 2:g.179499530T>C | ClinGen:CA283209 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.42046G>C (p.Gly14016Arg) | 7273 | TTN | Conflicting interpretations of pathogenicity | 367751077 | RCV001134264|RCV001134265|RCV001134268|RCV001134266|RCV001134267; | N | 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,OMIM:608807,Orph | 2 | 179499555 | 179499555 | | | 2:g.179499555C>G | - | | |
NM_001267550.2(TTN):c.41958A>G (p.Ala13986=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 186699871 | RCV000154953|RCV000245212|RCV000269359|RCV000309522|RCV000308082|RCV000366575|RCV000369715|RCV000845346|RCV001079462; | N | MedGen: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:00127 | 2 | 179499958 | 179499958 | | | | ClinGen:CA295755 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.41569G>A (p.Ala13857Thr) | 7273 | TTN | Conflicting interpretations of pathogenicity | 144963490 | RCV001131403|RCV001131405|RCV001131404|RCV001131406|RCV001131407; | N | 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, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179500729 | 179500729 | | | 2:g.179500729C>T | - | | |
NM_001267550.2(TTN):c.41508T>C (p.Ala13836=) | 7273 | TTN | Benign/Likely benign | 55847232 | RCV000040216|RCV000250028|RCV000262740|RCV000277481|RCV000330695|RCV000320179|RCV000372350|RCV000458003|RCV000993436; | N | MedGen: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, | 2 | 179500790 | 179500790 | | | | ClinGen:CA283203 | | |
NM_001267550.2(TTN):c.41503C>T (p.Arg13835Trp) | 7273 | TTN | Uncertain significance | 886055278 | RCV000280155|RCV000282852|RCV000340174|RCV000342213|RCV000400823|RCV001764305; | N | 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, Orphanet:154|MON | 2 | 179500795 | 179500795 | | | 2:g.179500795G>A | ClinGen:CA10612081 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.41468C>G (p.Pro13823Arg) | 7273 | TTN | Uncertain significance | 2060403983 | RCV001128859|RCV001128860|RCV001128861|RCV001135862|RCV001135863; | N | 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:0012127,MedGen:C1837342,OMIM:608807,O | 2 | 179500830 | 179500830 | | | 2:g.179500830G>C | - | | |
NM_001267550.2(TTN):c.41428G>A (p.Val13810Met) | 7273 | TTN | Conflicting interpretations of pathogenicity | 763668057 | RCV000184506|RCV000309772|RCV000343809|RCV000392746|RCV000370464|RCV000399409; | N | MedGen: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, | 2 | 179500870 | 179500870 | | | 2:g.179500870C>T | ClinGen:CA309775 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 72650077 | RCV000040213|RCV000251423|RCV000263483|RCV000266898|RCV000312419|RCV000354706|RCV000355579|RCV000465879|RCV000770040|RCV001081405; | N | MedGen: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:00114 | 2 | 179501351 | 179501351 | | | | ClinGen:CA283198 | | |
NM_001267550.2(TTN):c.40973A>G (p.Lys13658Arg) | 7273 | TTN | Conflicting interpretations of pathogenicity | 184713215 | RCV000154955|RCV000252544|RCV000467649|RCV001135957|RCV001135956|RCV001135958|RCV001134532|RCV001135955|RCV001697149|RCV001798508; | N | MedGen: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:C2673677 | 2 | 179501481 | 179501481 | | | 2:g.179501481T>C | ClinGen:CA181823 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.40927+16C>T | 7273 | TTN | Benign/Likely benign | 369965589 | RCV000442291|RCV001529605|RCV002061562|RCV001840516|RCV001840517|RCV001840518|RCV001840519|RCV002481301; | N | MedGen: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:C1837342 | 2 | 179502080 | 179502080 | | | 2:g.179502080G>A | ClinGen:CA1996349 | CN169374 not specified; | |
NM_001267550.2(TTN):c.40786+3G>A | 7273 | TTN | Conflicting interpretations of pathogenicity | 551963261 | RCV000288909|RCV000290238|RCV000324376|RCV000328989|RCV000377729|RCV000592340|RCV002521347; | N | 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:0012714,MedGen:C2673677,OMIM:611705,O | 2 | 179504772 | 179504772 | | | 2:g.179504772C>T | ClinGen:CA1996387 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.40634-9A>G | 7273 | TTN | Conflicting interpretations of pathogenicity | 373511249 | RCV000264192|RCV000304053|RCV000322272|RCV000352942|RCV000408205|RCV000555009|RCV000607770|RCV001718703; | N | 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,OMIM:611705,Orph | 2 | 179505366 | 179505366 | | | 2:g.179505366T>C | ClinGen:CA1996423 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del) | 7273 | TTN | Conflicting interpretations of pathogenicity | 727504199 | RCV000154076|RCV000194325|RCV000272958|RCV000295190|RCV000333713|RCV000325637|RCV000365323|RCV000382530|RCV000470298|RCV001171018|RCV002381487; | N | MedGen: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:D00 | 2 | 179506014 | 179506016 | | | 2:g.179506014_179506016del | ClinGen:CA208429 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.40581A>G (p.Glu13527=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 775954427 | RCV000242866|RCV000378788|RCV000725863|RCV000770043|RCV001132682|RCV001132684|RCV001132685|RCV001086023|RCV001132681|RCV001132683; | N | MedGen: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, Orphanet | 2 | 179506020 | 179506020 | | | NC_000002.11:g.179506020T>C | ClinGen:CA1996443 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.40543G>A (p.Val13515Ile) | 7273 | TTN | Uncertain significance | 727504200 | RCV000154077|RCV000723797|RCV001132688|RCV001136074|RCV001136076|RCV001136075|RCV001136077; | N | 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:0012714,MedGen:C2673677 | 2 | 179506979 | 179506979 | | | 2:g.179506979C>T | ClinGen:CA235129 | CN169374 not specified; | |
NM_001267550.2(TTN):c.40519C>T (p.Arg13507Cys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 528749203 | RCV001129101|RCV001136078|RCV001136079|RCV001136080|RCV001136081|RCV002379656|RCV003326544; | N | 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, Orphanet:178464,Orp | 2 | 179507003 | 179507003 | | | 2:g.179507003G>A | - | | |
NM_001267550.2(TTN):c.40515G>A (p.Pro13505=) | 7273 | TTN | Benign/Likely benign | 367958537 | RCV000422837|RCV000470667|RCV001840512|RCV001840513|RCV001731674|RCV001840514|RCV001840515|RCV002379306|RCV002502486; | N | 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:C1837342,OMIM:608807,Orp | 2 | 179507007 | 179507007 | | | 2:g.179507007C>T | ClinGen:CA1996468 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe) | 7273 | TTN | Conflicting interpretations of pathogenicity | 201944202 | RCV000040205|RCV000082399|RCV000279186|RCV000294379|RCV000336318|RCV000337656|RCV000385921|RCV000620121|RCV001086509|RCV001798149; | N | MedGen: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:C1858 | 2 | 179507024 | 179507024 | | | 2:g.179507024C>A | ClinGen:CA139563 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.40408+7_40408+10dup | 7273 | TTN | Conflicting interpretations of pathogenicity | 397517560 | RCV000040204|RCV000309870|RCV000306130|RCV000339964|RCV000362130|RCV000398919|RCV000390916|RCV000770045|RCV001529184|RCV002054790; | N | MedGen: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:C0007 | 2 | 179510636 | 179510637 | | | NC_000002.11:g.179510637_179510640dup | ClinGen:CA139562 | | |
NM_001267550.2(TTN):c.40250C>T (p.Pro13417Leu) | 7273 | TTN | Benign/Likely benign | 537578226 | RCV000714025|RCV001083479|RCV001840659|RCV001840660|RCV001840661|RCV001840662|RCV002497139; | N | 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:C1837342,OMIM:608807,Orp | 2 | 179511259 | 179511259 | | | 2:g.179511259G>A | ClinGen:CA1996524 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.40141+7G>A | 7273 | TTN | Benign | 77960621 | RCV000470189|RCV001700186|RCV001729608|RCV001840582|RCV001840584|RCV001840583|RCV001840585; | N | MONDO: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:C1863599 | 2 | 179512101 | 179512101 | | | NC_000002.11:g.179512101C>T | ClinGen:CA1996537 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.39766A>G (p.Lys13256Glu) | 7273 | TTN | Uncertain significance | 762177160 | RCV001132774|RCV001132771|RCV001132772|RCV001132773|RCV001132775; | N | 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, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179514942 | 179514942 | | | 2:g.179514942T>C | - | | |
NM_001267550.2(TTN):c.39709+7G>A | 7273 | TTN | Conflicting interpretations of pathogenicity | 750763722 | RCV000552140|RCV001132777|RCV001132778|RCV001136167|RCV001132776|RCV001136168|RCV003431089; | N | 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, Orphanet:178464,Orp | 2 | 179515471 | 179515471 | | | 2:g.179515471C>T | ClinGen:CA1996625 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.39704C>G (p.Pro13235Arg) | 7273 | TTN | Benign/Likely benign | 72650066 | RCV000040199|RCV000248300|RCV000260022|RCV000284584|RCV000319817|RCV000339648|RCV000374474|RCV000461991|RCV000770051|RCV000993433; | N | MedGen: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:C1858 | 2 | 179515483 | 179515483 | | | 2:g.179515483G>C | ClinGen:CA283188 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.39616C>T (p.Pro13206Ser) | 7273 | TTN | Conflicting interpretations of pathogenicity | 186404793 | RCV000040198|RCV000285797|RCV000310247|RCV000346455|RCV000400718|RCV000400546|RCV000468407|RCV001719767; | N | MedGen: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:C18587 | 2 | 179515979 | 179515979 | | | 2:g.179515979G>A | ClinGen:CA139547 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.39465G>A (p.Val13155=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 886055279 | RCV000262867|RCV000276165|RCV000298100|RCV000311435|RCV000370711|RCV001485167; | N | 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:C1863599,OMIM:603689, Orphanet:178464,Orp | 2 | 179516262 | 179516262 | | | 2:g.179516262C>T | ClinGen:CA10612082 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.39464-15T>C | 7273 | TTN | Uncertain significance | 2062964886 | RCV001136292|RCV001136294|RCV001136293|RCV001136295|RCV001136296; | N | 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, Orphanet:178464,Orp | 2 | 179516278 | 179516278 | | | 2:g.179516278A>G | - | | |
NM_001267550.2(TTN):c.39296-13C>T | 7273 | TTN | Benign/Likely benign | 372380420 | RCV000154958|RCV001726010|RCV001840151|RCV001840152|RCV001840153|RCV001840154|RCV002056067; | N | MedGen: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:00127 | 2 | 179516707 | 179516707 | | | 2:g.179516707G>A | ClinGen:CA181833 | CN169374 not specified; | |
NM_001267550.2(TTN):c.39128-14T>C | 7273 | TTN | Conflicting interpretations of pathogenicity | 200916144 | RCV000040190|RCV000294097|RCV000295213|RCV000329232|RCV000383775|RCV000390094|RCV001727542|RCV002054789; | N | MedGen: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, | 2 | 179517088 | 179517088 | | | 2:g.179517088A>G | ClinGen:CA283182 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.39090G>A (p.Ala13030=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 375519815 | RCV000302696|RCV000301451|RCV000356263|RCV000390517|RCV000391962|RCV000441149|RCV000525321; | N | 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, Orphanet:178464,Orp | 2 | 179517222 | 179517222 | | | 2:g.179517222C>T | ClinGen:CA1996869 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.39045G>C (p.Val13015=) | 7273 | TTN | Benign/Likely benign | 192464868 | RCV000040186|RCV000234657|RCV001839592|RCV001839593|RCV001839594|RCV001839595; | N | 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:C1837342,OMIM:608807,Orp | 2 | 179517267 | 179517267 | | | 2:g.179517267C>G | ClinGen:CA139517 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.39044-15C>T | 7273 | TTN | Conflicting interpretations of pathogenicity | 749495580 | RCV000280121|RCV000333308|RCV000335130|RCV000386517|RCV000387863|RCV000606069|RCV002521348; | N | 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:C1858763,OMIM:604145,O | 2 | 179517283 | 179517283 | | | 2:g.179517283G>A | ClinGen:CA1996887 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.38880A>G (p.Pro12960=) | 7273 | TTN | Benign | 2742354 | RCV000464256|RCV000993432|RCV001796064|RCV001840594|RCV001840595|RCV001840596|RCV001840597; | N | MONDO: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:C1837342 | 2 | 179517654 | 179517654 | | | 2:g.179517654T>C | ClinGen:CA1996971 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.38708-4T>C | 7273 | TTN | Benign/Likely benign | 200819643 | RCV000229974|RCV000426031|RCV001083904|RCV001840412|RCV001840414|RCV001840413|RCV001840415; | N | MedGen: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:C1863599 | 2 | 179518052 | 179518052 | | | 2:g.179518052A>G | ClinGen:CA1997080 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.37956G>T (p.Val12652=) | 7273 | TTN | Benign/Likely benign | 541757326 | RCV000457678|RCV001081813|RCV001840598|RCV001840600|RCV001840599|RCV001840601; | N | 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:C1863599,OMIM:603689,Orp | 2 | 179522307 | 179522307 | | | NC_000002.11:g.179522307C>A | ClinGen:CA1997212 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.37722T>C (p.Val12574=) | 7273 | TTN | Benign/Likely benign | 377422414 | RCV000232321|RCV000834738|RCV001289371|RCV001840404|RCV001840405|RCV001840407|RCV001840406; | N | MONDO: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:C1837342 | 2 | 179522874 | 179522874 | | | NC_000002.11:g.179522874A>G | ClinGen:CA1997258 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.37525G>A (p.Glu12509Lys) | 7273 | TTN | Benign/Likely benign | 201797790 | RCV000172673|RCV001082763|RCV001840217|RCV001840214|RCV001840216|RCV001840215|RCV001701694; | N | MedGen: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, | 2 | 179523450 | 179523450 | | | 2:g.179523450C>T | ClinGen:CA238505 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.37461A>T (p.Glu12487Asp) | 7273 | TTN | Benign | 200021871 | RCV000172798|RCV000204932|RCV001082249|RCV001840230|RCV001840232|RCV001840231|RCV001840233; | N | MedGen: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:C1863599 | 2 | 179523514 | 179523514 | | | 2:g.179523514T>A | ClinGen:CA200099 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.37247C>T (p.Ser12416Leu) | 7273 | TTN | Benign/Likely benign | 370765948 | RCV000172675|RCV001082974|RCV001840218|RCV001840219|RCV001840220|RCV001840221; | N | 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:C1837342,OMIM:608807,Orp | 2 | 179526524 | 179526524 | | | 2:g.179526524G>A | ClinGen:CA238510 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.36790+5G>T | 7273 | TTN | Uncertain significance | 752204534 | RCV001136520|RCV001136521|RCV001136517|RCV001136519|RCV001136518; | N | 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,OMIM:608807,Orph | 2 | 179527688 | 179527688 | | | 2:g.179527688C>A | - | | |
NM_001267550.2(TTN):c.36776C>T (p.Ala12259Val) | 7273 | TTN | Conflicting interpretations of pathogenicity | 755562550 | RCV000174971|RCV000281125|RCV000360532|RCV000340850|RCV000398847|RCV000394487|RCV000724464; | N | 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:C1837342,OMIM:608807,Orp | 2 | 179527707 | 179527707 | | | 2:g.179527707G>A | ClinGen:CA240621 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.36701-16A>G | 7273 | TTN | Benign/Likely benign | 577899845 | RCV000429553|RCV001726168|RCV001840544|RCV001840545|RCV001840546|RCV001840547; | N | MedGen: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:00127 | 2 | 179527798 | 179527798 | | | 2:g.179527798T>C | ClinGen:CA1997359 | CN169374 not specified; | |
NM_001267550.2(TTN):c.36676A>G (p.Lys12226Glu) | 7273 | TTN | Benign/Likely benign | 200815663 | RCV000172676|RCV000233930|RCV001840223|RCV001840222|RCV001729425|RCV001840224|RCV001840225; | N | MedGen: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, | 2 | 179528017 | 179528017 | | | 2:g.179528017T>C | ClinGen:CA238512 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.36625G>T (p.Val12209Leu) | 7273 | TTN | Benign | 72650053 | RCV000172799|RCV000475308|RCV001573891|RCV001840234|RCV001840235|RCV001840236|RCV001840237; | N | MedGen: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:C1837342 | 2 | 179528068 | 179528068 | | | 2:g.179528068C>A | ClinGen:CA200101 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.36509A>T (p.Glu12170Val) | 7273 | TTN | Benign/Likely benign | 200840285 | RCV000172677|RCV000517437|RCV001081269|RCV001840226|RCV001840227|RCV001840228|RCV001840229; | N | MedGen: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:C1837342 | 2 | 179528377 | 179528377 | | | 2:g.179528377T>A | ClinGen:CA238514 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.36489G>A (p.Ala12163=) | 7273 | TTN | Benign/Likely benign | 115493456 | RCV000834689|RCV001083685|RCV001289369|RCV001840392|RCV001840393|RCV001840394|RCV001840395; | N | MedGen: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:C1837342 | 2 | 179528397 | 179528397 | | | 2:g.179528397C>T | ClinGen:CA1997445 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.36347A>G (p.Glu12116Gly) | 7273 | TTN | Benign/Likely benign | 200513156 | RCV000172801|RCV000230117|RCV000997491|RCV001840242|RCV001840243|RCV001840244|RCV001840245; | N | MedGen: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:C1837342 | 2 | 179528759 | 179528759 | | | 2:g.179528759T>C | ClinGen:CA200105 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.36318A>G (p.Lys12106=) | 7273 | TTN | Benign | 2115557 | RCV000835186|RCV001082039|RCV001840328|RCV001840329|RCV001840331|RCV001840330; | N | 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:C1837342,OMIM:608807,Orp | 2 | 179528788 | 179528788 | | | NC_000002.11:g.179528788T>C | ClinGen:CA349955 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.36299A>T (p.Glu12100Val) | 7273 | TTN | Benign | 73973133 | RCV000172802|RCV000832261|RCV001079294|RCV001840246|RCV001840248|RCV001840247|RCV001840249; | N | MedGen: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:C1863599 | 2 | 179528807 | 179528807 | | | NC_000002.11:g.179528807T>A | ClinGen:CA200107 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.36285C>T (p.His12095=) | 7273 | TTN | Benign/Likely benign | 201184203 | RCV000227285|RCV001085907|RCV001699244|RCV001840388|RCV001840390|RCV001840389|RCV001840391; | N | MedGen: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:C1863599 | 2 | 179528821 | 179528821 | | | 2:g.179528821G>A | ClinGen:CA1997559 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.36203-9T>C | 7273 | TTN | Benign | 2562849 | RCV000463948|RCV000993428|RCV001700378|RCV001840610|RCV001840611|RCV001840612|RCV001840613; | N | MONDO: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:C1837342 | 2 | 179529273 | 179529273 | | | 2:g.179529273A>G | ClinGen:CA1997610 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.36126A>C (p.Glu12042Asp) | 7273 | TTN | Benign/Likely benign | 113231696 | RCV000229446|RCV001573253|RCV001699258|RCV001840384|RCV001840385|RCV001840386|RCV001840387; | N | MONDO: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:C1837342 | 2 | 179529457 | 179529457 | | | NC_000002.11:g.179529457T>G | ClinGen:CA1997646 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.35154dup (p.Val11719fs) | 7273 | TTN | Conflicting interpretations of pathogenicity | 2067087661 | RCV001045672|RCV002249650; | N | 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 | 2 | 179536770 | 179536771 | | | 2:g.179536770_179536771insT | - | | |
NM_001267550.2(TTN):c.34856-17A>G | 7273 | TTN | Benign/Likely benign | 188686309 | RCV000605739|RCV001840709|RCV001840710|RCV001840711|RCV001840712|RCV001811118|RCV002066770; | N | MedGen: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:C26736 | 2 | 179537225 | 179537225 | | | 2:g.179537225T>C | ClinGen:CA1997945 | CN169374 not specified; | |
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly) | 7273 | TTN | Benign/Likely benign | 201167067 | RCV000040176|RCV000468589|RCV001081714|RCV001839588|RCV001839590|RCV001839589|RCV001839591|RCV002490557; | N | MedGen: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:C1863599 | 2 | 179538377 | 179538377 | | | 2:g.179538377T>C | ClinGen:CA139480 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.34768G>C (p.Glu11590Gln) | 7273 | TTN | Conflicting interpretations of pathogenicity | 764974634 | RCV001133183|RCV001133182|RCV001133184|RCV001133180|RCV001133181|RCV003142066; | N | 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, Orphanet:289377|MON | 2 | 179538378 | 179538378 | | | 2:g.179538378C>G | - | | |
NM_001267550.2(TTN):c.34721T>C (p.Ile11574Thr) | 7273 | TTN | Uncertain significance | 368157806 | RCV000184472|RCV001133185|RCV001134646|RCV001134648|RCV001134645|RCV001134647|RCV001508118|RCV002485239; | N | MedGen: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,Orp | 2 | 179538425 | 179538425 | | | 2:g.179538425A>G | ClinGen:CA309683 | CN169374 not specified; | |
NM_001267550.2(TTN):c.34708+8C>A | 7273 | TTN | Benign/Likely benign | 762808097 | RCV000232102|RCV000593073|RCV001199178|RCV001840380|RCV001840382|RCV001840381|RCV001840383|RCV002494637; | N | 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:C1863599,OMIM:603689,Or | 2 | 179539033 | 179539033 | | | 2:g.179539033G>T | ClinGen:CA1998005 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.34696G>T (p.Ala11566Ser) | 7273 | TTN | Conflicting interpretations of pathogenicity | 556948427 | RCV001129635|RCV001134649|RCV001134650|RCV001134651|RCV001134652|RCV003142057; | N | 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, Orphanet:140922|MON | 2 | 179539053 | 179539053 | | | 2:g.179539053C>A | - | | |
NM_001267550.2(TTN):c.34601T>C (p.Leu11534Pro) | 7273 | TTN | Conflicting interpretations of pathogenicity | 376836503 | RCV000282866|RCV000343895|RCV000342567|RCV000378554|RCV000400624|RCV000558741|RCV001721146; | N | 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, Orphanet:178464,Orp | 2 | 179539777 | 179539777 | | | 2:g.179539777A>G | ClinGen:CA309016 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp) | 7273 | TTN | Conflicting interpretations of pathogenicity | 140640738 | RCV000040174|RCV000082392|RCV000309400|RCV000315049|RCV000350143|RCV000369677|RCV000399534|RCV000852870|RCV001082919|RCV001798146; | N | MedGen: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:C1863 | 2 | 179539812 | 179539812 | | | 2:g.179539812T>G | ClinGen:CA139474 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.34453+14G>A | 7273 | TTN | Benign/Likely benign | 397517550 | RCV000040173|RCV000262542|RCV000268606|RCV000322314|RCV000357439|RCV000376938|RCV001795023|RCV002054788; | N | 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:0011400,MedGen:C18587 | 2 | 179540634 | 179540634 | | | 2:g.179540634C>T | ClinGen:CA139473 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.34379-14T>C | 7273 | TTN | Benign/Likely benign | 727505341 | RCV000156893|RCV001689705|RCV001840200|RCV001840201|RCV001840202|RCV001840203|RCV001850172; | N | MedGen: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:00127 | 2 | 179540736 | 179540736 | | | 2:g.179540736A>G | ClinGen:CA185787 | CN169374 not specified; | |
NM_001267550.2(TTN):c.34379-15A>G | 7273 | TTN | Conflicting interpretations of pathogenicity | 764544769 | RCV000297820|RCV000301196|RCV000336367|RCV000401394|RCV000395976|RCV000610712|RCV001699320|RCV002057624; | N | 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:C2673677,OMIM:611705,O | 2 | 179540737 | 179540737 | | | 2:g.179540737T>C | ClinGen:CA1998081 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del) | 7273 | TTN | Conflicting interpretations of pathogenicity | 397517549 | RCV000040171|RCV000157573|RCV000265995|RCV000269293|RCV000304720|RCV000326725|RCV000358341|RCV000361578|RCV000461729|RCV001170392|RCV001811293; | N | MedGen: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|Human | 2 | 179542390 | 179542392 | | | 2:g.179542390_179542392del | ClinGen:CA139469 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.34248A>C (p.Glu11416Asp) | 7273 | TTN | Uncertain significance | 780920687 | RCV001129756|RCV001129753|RCV001129754|RCV001129755|RCV001134743; | N | 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:0012127,MedGen:C1837342,OMIM:608807,O | 2 | 179542391 | 179542391 | | | 2:g.179542391T>G | - | | |
NM_001267550.2(TTN):c.34216C>A (p.Pro11406Thr) | 7273 | TTN | Conflicting interpretations of pathogenicity | 532102837 | RCV000172361|RCV000248449|RCV000282781|RCV000337132|RCV000340184|RCV000371985|RCV000394687|RCV000603350|RCV000770054|RCV001084484; | N | 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|MONDO:MONDO:0012714, | 2 | 179542423 | 179542423 | | | 2:g.179542423G>T | ClinGen:CA238045 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.34201G>A (p.Glu11401Lys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 765827814 | RCV000308885|RCV000362500|RCV000367572|RCV000398800|RCV000399587|RCV000596957|RCV000642974; | N | 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, Orphanet:140922|MON | 2 | 179542438 | 179542438 | | | 2:g.179542438C>T | ClinGen:CA1998122 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.34140A>G (p.Glu11380=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 147418835 | RCV000259807|RCV000275254|RCV000332773|RCV000371038|RCV000374409|RCV000538959|RCV000596218|RCV000997501|RCV001170393; | N | 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, Orphanet:609|MON | 2 | 179542499 | 179542499 | | | 2:g.179542499T>C | ClinGen:CA1998133 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.34062A>G (p.Glu11354=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 886055281 | RCV000282323|RCV000285991|RCV000321228|RCV000343351|RCV000378201|RCV000431074|RCV001432705; | N | 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,OMIM:608807,Orph | 2 | 179542577 | 179542577 | | | 2:g.179542577T>C | ClinGen:CA10613325 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.34015G>A (p.Val11339Ile) | 7273 | TTN | Uncertain significance | 886055282 | RCV000310896|RCV000347048|RCV000367962|RCV000401828|RCV000397698; | N | 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:C1858763,OMIM:604145,O | 2 | 179542624 | 179542624 | | | 2:g.179542624C>T | ClinGen:CA10613326 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.33910+3A>G | 7273 | TTN | Uncertain significance | -1 | RCV003148004|RCV003148003|RCV003148005|RCV003148006|RCV003148007|RCV003148008; | N | MONDO: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:0011362 | 2 | 179543138 | 179543138 | | | | - | | |
NM_001267550.2(TTN):c.33856G>A (p.Glu11286Lys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 376874956 | RCV000040165|RCV000264717|RCV000261380|RCV000300081|RCV000315424|RCV000353902|RCV000643124|RCV000714019|RCV001170394; | N | MedGen: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:C18373 | 2 | 179543195 | 179543195 | | | 2:g.179543195C>T | ClinGen:CA139449 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.33826+7G>A | 7273 | TTN | Conflicting interpretations of pathogenicity | 752099208 | RCV000607148|RCV001134975|RCV001134976|RCV001134977|RCV001133483|RCV001133484; | N | 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:C1863599,OMIM:603689,Orp | 2 | 179543467 | 179543467 | | | 2:g.179543467C>T | ClinGen:CA1998224 | CN169374 not specified; | |
NM_001267550.2(TTN):c.33754C>T (p.Pro11252Ser) | 7273 | TTN | Uncertain significance | 886055283 | RCV000294919|RCV000347807|RCV000352024|RCV000386866|RCV000396202; | N | 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, Orphanet:289377|MON | 2 | 179543546 | 179543546 | | | 2:g.179543546G>A | ClinGen:CA10611688 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.33742+11A>G | 7273 | TTN | Benign/Likely benign | 72650042 | RCV000040161|RCV001129944|RCV001129945|RCV001129946|RCV001130645|RCV001130644|RCV001528875|RCV002054786; | N | 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|MONDO:MONDO:0012127,MedGen:C1837342, | 2 | 179544055 | 179544055 | | | 2:g.179544055T>C | ClinGen:CA283158 | CN169374 not specified; | |
NM_001267550.2(TTN):c.33601C>A (p.Pro11201Thr) | 7273 | TTN | Uncertain significance | 769195017 | RCV000473798|RCV001133616|RCV001133617|RCV001133619|RCV001130651|RCV001133618|RCV001653819; | N | 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, Orphanet:609|MON | 2 | 179544389 | 179544389 | | | NC_000002.11:g.179544389G>T | ClinGen:CA1998298 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.33418+12C>A | 7273 | TTN | Conflicting interpretations of pathogenicity | 199772748 | RCV000217318|RCV001135114|RCV001135116|RCV001135117|RCV001135118|RCV001135115|RCV002057156; | N | MedGen: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:C18373 | 2 | 179544969 | 179544969 | | | NC_000002.11:g.179544969G>T | ClinGen:CA1998349 | CN169374 not specified; | |
NM_001267550.2(TTN):c.33331G>A (p.Ala11111Thr) | 7273 | TTN | Conflicting interpretations of pathogenicity | 545067681 | RCV000544688|RCV001130792|RCV001130794|RCV001130796|RCV001130793|RCV001130795; | N | 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, Orphanet:154|MONDO: | 2 | 179545815 | 179545815 | | | NC_000002.11:g.179545815C>T | ClinGen:CA1998386 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.33287G>A (p.Arg11096His) | 7273 | TTN | Benign/Likely benign | 36051007 | RCV000040156|RCV000251495|RCV000270218|RCV000273725|RCV000331522|RCV000327674|RCV000362564|RCV000993424|RCV001514403; | N | MedGen: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:00127 | 2 | 179545859 | 179545859 | | | 2:g.179545859C>T | ClinGen:CA283147 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.33248-8C>G | 7273 | TTN | Uncertain significance | 766957102 | RCV000219936|RCV000725497|RCV001135255|RCV001133758|RCV001135252|RCV001135253|RCV001135254; | N | MedGen: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, | 2 | 179545906 | 179545906 | | | 2:g.179545906G>C | ClinGen:CA1998404 | CN169374 not specified; | |
NM_001267550.2(TTN):c.33001G>A (p.Glu11001Lys) | 7273 | TTN | Uncertain significance | -1 | RCV003148020|RCV003148018|RCV003148022|RCV003148019|RCV003148021|RCV003148023; | N | MONDO: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|MOND | 2 | 179547517 | 179547517 | | | | - | | |
NM_001267550.2(TTN):c.32858C>T (p.Ala10953Val) | 7273 | TTN | Uncertain significance | 773225325 | RCV000517283|RCV000765581|RCV001131056|RCV001131057|RCV001134014|RCV001134015|RCV001134016|RCV003139726; | N | MedGen: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, | 2 | 179547967 | 179547967 | | | 2:g.179547967G>A | ClinGen:CA1998508 | CN169374 not specified; | |
NM_001267550.2(TTN):c.32837A>T (p.Glu10946Val) | 7273 | TTN | Conflicting interpretations of pathogenicity | 763205133 | RCV001134018|RCV001134020|RCV001134017|RCV001134019|RCV001134021; | N | 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, Orphanet:289377|MON | 2 | 179547988 | 179547988 | | | 2:g.179547988T>A | - | | |
NM_001267550.2(TTN):c.32743G>C (p.Ala10915Pro) | 7273 | TTN | Benign/Likely benign | 72650032 | RCV000040147|RCV000251106|RCV000459932|RCV001573207|RCV001839584|RCV001839585|RCV001839586|RCV001839587; | N | MedGen: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:0012127 | 2 | 179548789 | 179548789 | | | 2:g.179548789C>G | ClinGen:CA139416 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.32591A>G (p.Lys10864Arg) | 7273 | TTN | Uncertain significance | 767155246 | RCV000284778|RCV000288214|RCV000339749|RCV000343239|RCV000397740|RCV000732281|RCV002487475; | N | 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, Orphanet:289377|MON | 2 | 179549440 | 179549440 | | | 2:g.179549440T>C | ClinGen:CA1998590 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.32571G>T (p.Lys10857Asn) | 7273 | TTN | Conflicting interpretations of pathogenicity | 370317568 | RCV001130558|RCV001130560|RCV001130559|RCV001130556|RCV001130557|RCV003142060; | N | 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, Orphanet:178464, | 2 | 179549460 | 179549460 | | | 2:g.179549460C>A | - | | |
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser) | 7273 | TTN | Conflicting interpretations of pathogenicity | 201738153 | RCV000040141|RCV000254304|RCV000725191|RCV001082304|RCV001130562|RCV001130563|RCV001130561|RCV001131288|RCV001131289|RCV001798144; | N | MedGen: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:0011362 | 2 | 179549474 | 179549474 | | | 2:g.179549474G>A | ClinGen:CA139397 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.32555-12G>T | 7273 | TTN | Conflicting interpretations of pathogenicity | 397517540 | RCV000040139|RCV001131290|RCV001131291|RCV001131294|RCV001131292|RCV001131293|RCV001535406|RCV002054785; | N | MedGen: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:C18587 | 2 | 179549488 | 179549488 | | | 2:g.179549488C>A | ClinGen:CA139395 | CN169374 not specified; | |
NM_001267550.2(TTN):c.32471-1G>A | 7273 | TTN | Uncertain significance | 371725574 | RCV000174435|RCV000723286|RCV001060586|RCV002500468; | N | 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|6 conditions | 2 | 179549717 | 179549717 | | | 2:g.179549717C>T | ClinGen:CA239986,ClinVar:424834 | CN169374 not specified; | |
NM_001267550.2(TTN):c.32393-12A>G | 7273 | TTN | Benign/Likely benign | 16866434 | RCV000040136|RCV000274941|RCV000299985|RCV000314810|RCV000354422|RCV000369462|RCV001795022|RCV002054784; | N | MedGen: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:C18587 | 2 | 179550069 | 179550069 | | | 2:g.179550069T>C | ClinGen:CA283122 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.32371G>C (p.Val10791Leu) | 7273 | TTN | Uncertain significance | 765062133 | RCV000578051|RCV000577989|RCV000578105; | N | 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 | 2 | 179550266 | 179550266 | | | NC_000002.11:g.179550266C>G | ClinGen:CA349549194 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.32367G>A (p.Lys10789=) | 7273 | TTN | Benign/Likely benign | 79232842 | RCV000040135|RCV000231622|RCV001811291|RCV001839576|RCV001839577|RCV001839578|RCV001839579; | N | MedGen: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:C1837342 | 2 | 179550270 | 179550270 | | | 2:g.179550270C>T | ClinGen:CA283117 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.32211G>A (p.Glu10737=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 747597729 | RCV001131412|RCV001131411|RCV001131413|RCV001131409|RCV001131410|RCV002070533|RCV002511049; | N | 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, Orphanet:289377|MON | 2 | 179552938 | 179552938 | | | 2:g.179552938C>T | - | | |
NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu) | 7273 | TTN | Conflicting interpretations of pathogenicity | 200952728 | RCV000184443|RCV000218769|RCV000643729|RCV000765584|RCV001134398|RCV001135864|RCV001135866|RCV001135865|RCV001135867|RCV003150065; | N | MedGen: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,Me | 2 | 179553849 | 179553849 | | | 2:g.179553849T>C | ClinGen:CA309614 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.32011+10C>G | 7273 | TTN | Benign | 192002980 | RCV000228990|RCV000225704|RCV001839878|RCV001839880|RCV001839879|RCV001839881; | N | 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:C1863599,OMIM:603689,Orp | 2 | 179554007 | 179554007 | | | 2:g.179554007G>C | ClinGen:CA223922 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.31871T>C (p.Val10624Ala) | 7273 | TTN | Uncertain significance | 2071792935 | RCV001128863|RCV001128865|RCV001128862|RCV001128864|RCV001128866; | N | 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:C1863599,OMIM:603689, Orphanet:178464,Orp | 2 | 179554298 | 179554298 | | | 2:g.179554298A>G | - | | |
NM_001267550.2(TTN):c.31857A>G (p.Val10619=) | 7273 | TTN | Uncertain significance | 886055286 | RCV000296798|RCV000316788|RCV000351614|RCV000372542|RCV000375924; | N | 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,OMIM:604145,O | 2 | 179554312 | 179554312 | | | 2:g.179554312T>C | ClinGen:CA10612087 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.31847-17A>G | 7273 | TTN | Benign/Likely benign | 72650025 | RCV000125755|RCV001530108|RCV001839936|RCV001839937|RCV001839939|RCV002055601|RCV001839938; | N | MedGen: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:C1858 | 2 | 179554339 | 179554339 | | | 2:g.179554339T>C | ClinGen:CA291443 | CN169374 not specified; | |
NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala) | 7273 | TTN | Conflicting interpretations of pathogenicity | 200213832 | RCV000040128|RCV000233950|RCV000725168|RCV001134533|RCV001134534|RCV001134535|RCV001135959|RCV001135960|RCV003398607; | N | MedGen: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:C2673677 | 2 | 179554549 | 179554549 | | | 2:g.179554549G>C | ClinGen:CA139375 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.31806C>T (p.Pro10602=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 370080995 | RCV000040127|RCV000231153|RCV000293056|RCV000308421|RCV000344333|RCV000347979|RCV000387481|RCV001170625|RCV001528269; | N | MedGen: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, | 2 | 179554580 | 179554580 | | | 2:g.179554580G>A | ClinGen:CA139371 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.31764C>T (p.Val10588=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 766441395 | RCV000264759|RCV000301235|RCV000304548|RCV000359235|RCV000396495|RCV000643184; | N | 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, Orphanet:178464,Orp | 2 | 179554622 | 179554622 | | | 2:g.179554622G>A | ClinGen:CA10613337 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_133378.4(TTN):c.28030+5G>A | 7273 | TTN | Conflicting interpretations of pathogenicity | 145387989 | RCV000274853|RCV000330018|RCV000333420|RCV000387922|RCV000384577|RCV000555758|RCV001546516|RCV003235193; | N | 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, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179556738 | 179556738 | | | 2:g.179556738C>T | ClinGen:CA1998860 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.31757C>A (p.Pro10586Gln) | 7273 | TTN | Conflicting interpretations of pathogenicity | 200459347 | RCV000040123|RCV000725032|RCV001085078|RCV001131661|RCV001131663|RCV001131662|RCV001131664|RCV001131660|RCV001170626; | N | MedGen: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:C2673677 | 2 | 179556748 | 179556748 | | | 2:g.179556748G>T | ClinGen:CA139360 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.31710G>C (p.Glu10570Asp) | 7273 | TTN | Uncertain significance | 1338646609 | RCV001136086|RCV001136083|RCV001136085|RCV001136082|RCV001136084; | N | 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,OMIM:611705,Orph | 2 | 179556795 | 179556795 | | | 2:g.179556795C>G | - | | |
NM_001267550.2(TTN):c.31645A>G (p.Ile10549Val) | 7273 | TTN | Conflicting interpretations of pathogenicity | 376613199 | RCV000537819|RCV001129104|RCV001136087|RCV001136088|RCV001136089|RCV001129105|RCV001584287|RCV001798883; | N | 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, Orphanet:154|MONDO: | 2 | 179557257 | 179557257 | | | NC_000002.11:g.179557257T>C | ClinGen:CA1998891 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.31456A>T (p.Ile10486Phe) | 7273 | TTN | Conflicting interpretations of pathogenicity | 772882862 | RCV000283258|RCV000298390|RCV000338121|RCV000577995|RCV000578113|RCV000836499; | N | 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:C1837342,OMIM:608807,O | 2 | 179558706 | 179558706 | | | NC_000002.11:g.179558706T>A | ClinGen:CA1998946 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.31441A>G (p.Thr10481Ala) | 7273 | TTN | Conflicting interpretations of pathogenicity | 370208651 | RCV000184436|RCV000729422|RCV001132780|RCV001132781|RCV001136174|RCV001136176|RCV001136175|RCV001170627; | N | MedGen: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:C1863 | 2 | 179558721 | 179558721 | | | 2:g.179558721T>C | ClinGen:CA309596 | CN169374 not specified; | |
NM_001267550.2(TTN):c.31422G>A (p.Val10474=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 72650020 | RCV000533749|RCV000600984|RCV001136178|RCV001136179|RCV001136180|RCV001136181|RCV001136177; | N | MONDO: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,Orp | 2 | 179559330 | 179559330 | | | 2:g.179559330C>T | ClinGen:CA1998968 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.31390C>T (p.Arg10464Trp) | 7273 | TTN | Conflicting interpretations of pathogenicity | 374555701 | RCV000462032|RCV001129211|RCV001129212|RCV001131900|RCV001131901|RCV001129213|RCV001569574; | N | 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, Orphanet:140922|MON | 2 | 179559362 | 179559362 | | | NC_000002.11:g.179559362G>A | ClinGen:CA1998969 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.31348+14C>T | 7273 | TTN | Uncertain significance | 2073303724 | RCV001131905|RCV001131904|RCV001131906|RCV001131902|RCV001131903; | N | 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:C1858763,OMIM:604145,O | 2 | 179559542 | 179559542 | | | 2:g.179559542G>A | - | | |
NM_001267550.2(TTN):c.31274T>C (p.Ile10425Thr) | 7273 | TTN | Uncertain significance | 1198546466 | RCV001131907|RCV001132874|RCV001132876|RCV001132873|RCV001132875; | N | 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,OMIM:611705,Orph | 2 | 179559630 | 179559630 | | | 2:g.179559630A>G | - | | |
NM_001267550.2(TTN):c.31227T>G (p.Val10409=) | 7273 | TTN | Benign/Likely benign | 748539440 | RCV000469228|RCV001672779|RCV001796065|RCV001840602|RCV001840603|RCV001840604|RCV001840605; | N | MONDO: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:C1837342 | 2 | 179560118 | 179560118 | | | NC_000002.11:g.179560118A>C | ClinGen:CA1999012 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.31208-13G>A | 7273 | TTN | Conflicting interpretations of pathogenicity | 377135196 | RCV001132877|RCV001132878|RCV001132879|RCV001132880|RCV001136300|RCV000608575|RCV002062858; | N | 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,OMIM:611705,Orph | 2 | 179560150 | 179560150 | | | 2:g.179560150C>T | ClinGen:CA60992063 | CN169374 not specified; | |
NM_001267550.2(TTN):c.31207+5G>A | 7273 | TTN | Uncertain significance | 876658051 | RCV000221296|RCV001136302|RCV001136301|RCV001136303|RCV001136304|RCV001136305|RCV002503864|RCV002518223; | N | MedGen: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,Orp | 2 | 179560587 | 179560587 | | | 2:g.179560587C>T | ClinGen:CA10576544 | CN169374 not specified; | |
NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln) | 7273 | TTN | Conflicting interpretations of pathogenicity | 200831060 | RCV000273981|RCV000313900|RCV000329199|RCV000365255|RCV000368569|RCV000474657|RCV000733449|RCV003387790; | N | 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,OMIM:611705,Orph | 2 | 179560685 | 179560685 | | | 2:g.179560685C>G | ClinGen:CA309590 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.31010A>G (p.Tyr10337Cys) | 7273 | TTN | Uncertain significance | 886055287 | RCV000280491|RCV000286021|RCV000322342|RCV000380400|RCV000377045|RCV002502288; | N | 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, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179560789 | 179560789 | | | 2:g.179560789T>C | ClinGen:CA10612088 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.30978A>G (p.Val10326=) | 7273 | TTN | Uncertain significance | 2073654294 | RCV001132023|RCV001132022|RCV001132024|RCV001132961|RCV001132962; | N | 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, Orphanet:178464,Orp | 2 | 179560821 | 179560821 | | | 2:g.179560821T>C | - | | |
NM_001267550.2(TTN):c.30941T>C (p.Ile10314Thr) | 7273 | TTN | Uncertain significance | 886055288 | RCV000267320|RCV000307147|RCV000324498|RCV000364189|RCV000396038|RCV000643169|RCV001700064; | N | 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, Orphanet:178464,Orp | 2 | 179560858 | 179560858 | | | 2:g.179560858A>G | ClinGen:CA10611689 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.30888A>G (p.Lys10296=) | 7273 | TTN | Benign/Likely benign | 587780978 | RCV000125751|RCV000460125|RCV001257072|RCV001839928|RCV001839930|RCV001839929|RCV001839931; | N | MedGen: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:C1863599 | 2 | 179560911 | 179560911 | | | | ClinGen:CA291437 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.30803-14T>C | 7273 | TTN | Uncertain significance | 2073693398 | RCV001129422|RCV001136395|RCV001136396|RCV001136397|RCV001136398; | N | 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, Orphanet:178464, | 2 | 179561010 | 179561010 | | | 2:g.179561010A>G | - | | |
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) | 7273 | TTN | Conflicting interpretations of pathogenicity | 111671438 | RCV000040111|RCV000172682|RCV000577956|RCV000578036|RCV000578117|RCV000852879|RCV001084360|RCV001129424|RCV001129423; | N | 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|Human Phenotype Ontology:HP:0001639 | 2 | 179563606 | 179563606 | | | 2:g.179563606C>A | ClinGen:CA139329 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.30683-28_30683-16del | 7273 | TTN | Benign/Likely benign | 764830728 | RCV001198113|RCV002071851|RCV003222251; | N | 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|MedGen:C3661900 | 2 | 179563657 | 179563669 | | | 2:g.179563657_179563669del | - | | |
NM_001267550.2(TTN):c.30683-21_30683-19del | 7273 | TTN | Benign/Likely benign | 752002029 | RCV001293493|RCV001540674|RCV001840802|RCV001840799|RCV001840800|RCV001840801|RCV002538423; | N | MedGen: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:C1863 | 2 | 179563660 | 179563662 | | | 179563659 | - | | |
NM_001267550.2(TTN):c.30682+7T>C | 7273 | TTN | Conflicting interpretations of pathogenicity | 752353097 | RCV000289919|RCV000295967|RCV000348593|RCV000388417|RCV000386803|RCV001490448; | N | 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, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179565840 | 179565840 | | | 2:g.179565840A>G | ClinGen:CA1999079 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.30598+15C>T | 7273 | TTN | Benign | 79685525 | RCV000152379|RCV001727601|RCV001840096|RCV001840098|RCV001840095|RCV001840097|RCV002056014; | N | MedGen: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:C1863 | 2 | 179566240 | 179566240 | | | 2:g.179566240G>A | ClinGen:CA295543 | CN169374 not specified; | |
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met) | 7273 | TTN | Conflicting interpretations of pathogenicity | 200593368 | RCV000040107|RCV000253899|RCV000260855|RCV000262132|RCV000300682|RCV000353220|RCV000385979|RCV000475078|RCV000725352|RCV001170630; | N | MedGen: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, | 2 | 179566921 | 179566921 | | | 2:g.179566921G>A | ClinGen:CA139313 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.30456G>C (p.Arg10152=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 764333790 | RCV001133074|RCV001133072|RCV001133073|RCV002070554|RCV001136522|RCV001136523; | N | 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, Orphanet:154; MON | 2 | 179566950 | 179566950 | | | 2:g.179566950C>G | - | | |
NM_001267550.2(TTN):c.30444G>A (p.Ser10148=) | 7273 | TTN | Benign/Likely benign | 367901929 | RCV000040106|RCV000531925|RCV001701582|RCV001839571|RCV001839572|RCV001839574|RCV001839573; | N | MedGen: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:C1837342 | 2 | 179566962 | 179566962 | | | 2:g.179566962C>T | ClinGen:CA139309 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.30433+11T>G | 7273 | TTN | Conflicting interpretations of pathogenicity | 199848546 | RCV000040105|RCV001129515|RCV001129517|RCV001129516|RCV001129518|RCV001136529|RCV002054781; | N | MedGen: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, | 2 | 179567170 | 179567170 | | | 2:g.179567170A>C | ClinGen:CA283082 | CN169374 not specified; | |
NM_001267550.2(TTN):c.30384T>C (p.Asp10128=) | 7273 | TTN | Benign/Likely benign | 188584219 | RCV000040103|RCV000230929|RCV000287114|RCV000299397|RCV000339794|RCV000394456|RCV000404515|RCV001573562|RCV001798141; | N | MedGen: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, | 2 | 179567230 | 179567230 | | | | ClinGen:CA283072 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.30224-8T>G | 7273 | TTN | Benign/Likely benign | 72650010 | RCV000040100|RCV000283393|RCV000323625|RCV000322132|RCV000380528|RCV000381564|RCV000475585|RCV001170632; | N | MedGen: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:C26736 | 2 | 179567398 | 179567398 | | | 2:g.179567398A>C | ClinGen:CA210972 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.30137C>T (p.Thr10046Ile) | 7273 | TTN | Uncertain significance | 535268419 | RCV001129640|RCV001129639|RCV001129636|RCV001129637|RCV001129638; | N | 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, Orphanet:178464, | 2 | 179568960 | 179568960 | | | 2:g.179568960G>A | - | | |
NM_001267550.2(TTN):c.29963-13A>G | 7273 | TTN | Conflicting interpretations of pathogenicity | 72650008 | RCV000040098|RCV000282220|RCV000335038|RCV000352559|RCV000374337|RCV000403313|RCV001529310|RCV002054780; | N | MedGen: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, | 2 | 179569147 | 179569147 | | | 2:g.179569147T>C | ClinGen:CA283066 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.29799G>A (p.Ser9933=) | 7273 | TTN | Benign | 2742344 | RCV000040095|RCV000251889|RCV000262055|RCV000267600|RCV000320320|RCV000359135|RCV000371963|RCV000993418|RCV001512028; | N | MedGen: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:C2673677 | 2 | 179569400 | 179569400 | | | | ClinGen:CA283056 | | |
NM_001267550.2(TTN):c.29786A>G (p.Glu9929Gly) | 7273 | TTN | Uncertain significance | 1340062320 | RCV001134746|RCV001134744|RCV001134745|RCV001134747|RCV001133298; | N | 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,OMIM:608807,Orph | 2 | 179569413 | 179569413 | | | 2:g.179569413T>C | - | | |
NM_001267550.2(TTN):c.29605-12T>C | 7273 | TTN | Benign/Likely benign | 143352892 | RCV000040092|RCV001129760|RCV001129758|RCV001129761|RCV001129757|RCV001129759|RCV001795020|RCV002054779; | N | 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:0011362,MedGen:C1863599,OMIM:603689,Orp | 2 | 179569705 | 179569705 | | | 2:g.179569705A>G | ClinGen:CA210971 | CN169374 not specified; | |
NM_001267550.2(TTN):c.29376G>A (p.Lys9792=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 1560529237 | RCV001133383|RCV001133385|RCV001133387|RCV001133384|RCV001133386|RCV003106127; | N | 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:C1858763,OMIM:604145,O | 2 | 179571225 | 179571225 | | | 2:g.179571225C>T | - | | |
NM_001267550.2(TTN):c.29317G>A (p.Ala9773Thr) | 7273 | TTN | Conflicting interpretations of pathogenicity | 371163094 | RCV000291685|RCV000304696|RCV000344234|RCV000390621|RCV000396317|RCV000470820|RCV000727772|RCV003317195; | N | 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, Orphanet:178464,Orp | 2 | 179571284 | 179571284 | | | 2:g.179571284C>T | ClinGen:CA1999409 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.29153T>C (p.Ile9718Thr) | 7273 | TTN | Benign/Likely benign | 4893852 | RCV000040088|RCV000242546|RCV000270874|RCV000290670|RCV000329733|RCV000385212|RCV000388876|RCV001510182; | N | MedGen: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:C1837342 | 2 | 179571448 | 179571448 | | | 2:g.179571448A>G | ClinGen:CA283041 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.29153T>G (p.Ile9718Ser) | 7273 | TTN | Uncertain significance | 4893852 | RCV001129856|RCV001129858|RCV001129857|RCV001129855|RCV001132577|RCV002491398|RCV001585996; | N | 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, Orphanet:140922|MON | 2 | 179571448 | 179571448 | | | 2:g.179571448A>C | - | | |
NM_001267550.2(TTN):c.29042-16G>A | 7273 | TTN | Benign | 10203085 | RCV000180771|RCV001839924|RCV001839925|RCV001839926|RCV001839927|RCV002055599; | N | MedGen: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:C26736 | 2 | 179571697 | 179571697 | | | 2:g.179571697C>T | ClinGen:CA303085 | CN169374 not specified; | |
NM_001267550.2(TTN):c.28970C>T (p.Ser9657Leu) | 7273 | TTN | Benign/Likely benign | 200049911 | RCV000040086|RCV000714006|RCV001084892|RCV001839567|RCV001839568|RCV001839569|RCV001839570; | N | MedGen: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:C1837342 | 2 | 179572324 | 179572324 | | | 2:g.179572324G>A | ClinGen:CA139274 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.28877C>A (p.Ala9626Asp) | 7273 | TTN | Uncertain significance | 397517530 | RCV000040084|RCV000471675|RCV001129947|RCV001129948|RCV001134989|RCV001134988|RCV001134990|RCV002472945|RCV002490555; | N | MedGen: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,Orp | 2 | 179572417 | 179572417 | | | 2:g.179572417G>T | ClinGen:CA139266 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.28754-11T>C | 7273 | TTN | Conflicting interpretations of pathogenicity | 146738622 | RCV001129949|RCV001129951|RCV001129952|RCV001129953|RCV001129950|RCV001718940|RCV002222564|RCV002064005; | N | 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, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179572551 | 179572551 | | | 2:g.179572551A>G | ClinGen:CA1999525 | CN169374 not specified; | |
NM_001267550.2(TTN):c.28681G>A (p.Ala9561Thr) | 7273 | TTN | Conflicting interpretations of pathogenicity | 373380202 | RCV000172370|RCV001130655|RCV001130656|RCV001130657|RCV001130658|RCV001133624; | N | 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:0012714,MedGen:C26736 | 2 | 179574365 | 179574365 | | | 2:g.179574365C>T | ClinGen:CA238069 | CN517202 not provided; | |
NM_001267550.2(TTN):c.28678G>A (p.Asp9560Asn) | 7273 | TTN | Benign/Likely benign | 771843862 | RCV000220157|RCV001170637|RCV001722170|RCV001840376|RCV001840377|RCV001840378|RCV001840379; | N | MedGen: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:MO | 2 | 179574368 | 179574368 | | | 2:g.179574368C>T | ClinGen:CA1999553 | CN169374 not specified; | |
NM_001267550.2(TTN):c.28677C>T (p.Asn9559=) | 7273 | TTN | Benign/Likely benign | 775065173 | RCV000184131|RCV000643308|RCV001840294|RCV001840295|RCV001840296|RCV001840297|RCV003430731; | N | 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:C1837342,OMIM:608807,Orp | 2 | 179574369 | 179574369 | | | | ClinGen:CA309000 | | |
NM_001267550.2(TTN):c.28542G>A (p.Glu9514=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 370604793 | RCV000312837|RCV000314113|RCV000338482|RCV000367535|RCV000394331|RCV000528891|RCV001718704|RCV003330642; | N | 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, Orphanet:140922|MON | 2 | 179574504 | 179574504 | | | 2:g.179574504C>T | ClinGen:CA1999574 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile) | 7273 | TTN | Conflicting interpretations of pathogenicity | 202160275 | RCV000152385|RCV000172372|RCV000242706|RCV000268918|RCV000265162|RCV000320266|RCV000328537|RCV000363523|RCV001085700|RCV001170857; | N | MedGen: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:0011 | 2 | 179574539 | 179574539 | | | 2:g.179574539C>T | ClinGen:CA178930 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.28359C>T (p.His9453=) | 7273 | TTN | Benign/Likely benign | 372238447 | RCV000865489|RCV001288912|RCV001840758|RCV001840759|RCV001840760|RCV001840761; | N | 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:C1837342,OMIM:608807,Orp | 2 | 179575465 | 179575465 | | | 2:g.179575465G>A | - | | |
NM_001267550.2(TTN):c.28353C>G (p.Ser9451Arg) | 7273 | TTN | Uncertain significance | 777096848 | RCV001133763|RCV001133764|RCV001133765|RCV001133766|RCV001135260; | N | 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,OMIM:611705,Orph | 2 | 179575471 | 179575471 | | | 2:g.179575471G>C | - | | |
NM_001267550.2(TTN):c.28317T>C (p.Ser9439=) | 7273 | TTN | Uncertain significance | 886055290 | RCV000306882|RCV000352130|RCV000366180|RCV000395934|RCV000402844; | N | 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, Orphanet:178464,Orp | 2 | 179575507 | 179575507 | | | 2:g.179575507A>G | ClinGen:CA10613340 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln) | 7273 | TTN | Benign/Likely benign | 72648998 | RCV000040078|RCV000252254|RCV000303436|RCV000322903|RCV000354348|RCV000358242|RCV000397370|RCV000461510|RCV000993415; | N | MedGen: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:C1837342 | 2 | 179575511 | 179575511 | | | 2:g.179575511C>T | ClinGen:CA283031 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.28104A>G (p.Ala9368=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 886055291 | RCV000259425|RCV000293543|RCV000319321|RCV000373879|RCV000388787|RCV001484151; | N | 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:C1858763,OMIM:604145,O | 2 | 179575859 | 179575859 | | | 2:g.179575859T>C | ClinGen:CA10613147 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.27856G>T (p.Val9286Phe) | 7273 | TTN | Conflicting interpretations of pathogenicity | 777547707 | RCV000263381|RCV000302666|RCV000353530|RCV000362104|RCV000395631; | N | 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,OMIM:611705,Orph | 2 | 179576701 | 179576701 | | | 2:g.179576701C>A | ClinGen:CA1999715 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.27846C>T (p.Ser9282=) | 7273 | TTN | Benign/Likely benign | 182355009 | RCV000040070|RCV000230887|RCV001839563|RCV001839565|RCV001839564|RCV001839566; | N | 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:C1863599,OMIM:603689,Orp | 2 | 179576711 | 179576711 | | | 2:g.179576711G>A | ClinGen:CA139231 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.27793A>C (p.Asn9265His) | 7273 | TTN | Conflicting interpretations of pathogenicity | 397517524 | RCV000040069|RCV001131058|RCV001131059|RCV001131061|RCV001131060|RCV001131062|RCV003128574; | N | MedGen: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:C18373 | 2 | 179576764 | 179576764 | | | 2:g.179576764T>G | ClinGen:CA139227 | CN169374 not specified; | |
NM_001267550.2(TTN):c.27747G>A (p.Thr9249=) | 7273 | TTN | Uncertain significance | 778970711 | RCV001134026|RCV001134022|RCV001134023|RCV001134024|RCV001134025; | N | 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, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179576810 | 179576810 | | | 2:g.179576810C>T | - | | |
NM_001267550.2(TTN):c.27709T>C (p.Ser9237Pro) | 7273 | TTN | Uncertain significance | 766638714 | RCV001199309; | N | MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609 | 2 | 179576848 | 179576848 | | | 2:g.179576848A>G | - | | |
NM_001267550.2(TTN):c.27702T>C (p.Ile9234=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 143368674 | RCV000221682|RCV000244485|RCV000318601|RCV000289504|RCV000334030|RCV000368614|RCV000388555|RCV000472277|RCV000769904|RCV001080202; | N | MedGen: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:00121 | 2 | 179576855 | 179576855 | | | | ClinGen:CA223913 | | |
NM_001267550.2(TTN):c.27654T>G (p.Val9218=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 780101457 | RCV000284160|RCV000285128|RCV000328627|RCV000339169|RCV000405812|RCV000878877|RCV001697675; | N | 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, Orphanet:178464, | 2 | 179576903 | 179576903 | | | 2:g.179576903A>C | ClinGen:CA1999748 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.27498G>A (p.Ser9166=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 372528823 | RCV000040065|RCV000300773|RCV000335503|RCV000336995|RCV000394095|RCV000405514|RCV000724437|RCV001081198|RCV001170859; | N | MedGen: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,Orp | 2 | 179577151 | 179577151 | | | 2:g.179577151C>T | ClinGen:CA139209 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.27328+19C>G | 7273 | TTN | Uncertain significance | 974890499 | RCV001196004; | N | MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609 | 2 | 179577405 | 179577405 | | | 2:g.179577405G>C | - | | |
NM_001267550.2(TTN):c.27152G>C (p.Ser9051Thr) | 7273 | TTN | Uncertain significance | 2076871733 | RCV001196744; | N | MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609 | 2 | 179577600 | 179577600 | | | 2:g.179577600C>G | - | | |
NM_001267550.2(TTN):c.27124G>A (p.Val9042Ile) | 7273 | TTN | Conflicting interpretations of pathogenicity | 766095051 | RCV001131180|RCV001131181|RCV001134141|RCV001134142|RCV001134143|RCV001558016; | N | 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, Orphanet:178464, | 2 | 179577628 | 179577628 | | | 2:g.179577628C>T | - | | |
NM_001267550.2(TTN):c.26818G>A (p.Gly8940Ser) | 7273 | TTN | Conflicting interpretations of pathogenicity | 201005813 | RCV000154970|RCV000172685|RCV001083461|RCV001131297|RCV001130564|RCV001131296|RCV001131298|RCV001131299; | N | MedGen: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:C2673677 | 2 | 179578043 | 179578043 | | | 2:g.179578043C>T | ClinGen:CA181869 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.26753A>G (p.Gln8918Arg) | 7273 | TTN | Conflicting interpretations of pathogenicity | 760040495 | RCV001131303|RCV001131302|RCV001131300|RCV001131301|RCV001134279; | N | 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,OMIM:604145,O | 2 | 179578632 | 179578632 | | | 2:g.179578632T>C | - | | |
NM_001267550.2(TTN):c.26681C>T (p.Pro8894Leu) | 7273 | TTN | Benign/Likely benign | 13398235 | RCV000040056|RCV000250866|RCV000263136|RCV000276072|RCV000298207|RCV000330033|RCV000368200|RCV001517441; | N | MedGen: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, | 2 | 179578704 | 179578704 | | | 2:g.179578704G>A | ClinGen:CA283004 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser) | 7273 | TTN | Conflicting interpretations of pathogenicity | 146057575 | RCV000040055|RCV000289133|RCV000284411|RCV000327811|RCV000333598|RCV000381135|RCV000488131|RCV001084221; | N | 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:C1837342,OMIM:608807,Orp | 2 | 179578713 | 179578713 | | | 2:g.179578713T>C | ClinGen:CA139188 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.26655C>T (p.Ser8885=) | 7273 | TTN | Benign | 2562839 | RCV000040054|RCV000244082|RCV000278395|RCV000300741|RCV000335859|RCV000341731|RCV000392145|RCV000993413|RCV001519597; | N | MedGen: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:00127 | 2 | 179578730 | 179578730 | | | | ClinGen:CA282999 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.26618A>G (p.Asp8873Gly) | 7273 | TTN | Uncertain significance | 776032171 | RCV001134402|RCV001134399|RCV001134400|RCV001134401|RCV001135868; | N | 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, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179578767 | 179578767 | | | 2:g.179578767T>C | - | | |
NM_001267550.2(TTN):c.26597A>G (p.Asp8866Gly) | 7273 | TTN | Uncertain significance | 2077094217 | RCV001135869|RCV001135870|RCV001135871|RCV001135872|RCV001135873; | N | 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, Orphanet:178464,Orp | 2 | 179578788 | 179578788 | | | 2:g.179578788T>C | - | | |
NM_001267550.2(TTN):c.26551T>G (p.Cys8851Gly) | 7273 | TTN | Uncertain significance | 558169834 | RCV001128870|RCV001128871|RCV001128869|RCV001135875|RCV001135874|RCV003142055; | N | 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,OMIM:611705,Orph | 2 | 179578834 | 179578834 | | | 2:g.179578834A>C | - | | |
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 140003804 | RCV000040050|RCV000229613|RCV000272376|RCV000321184|RCV000324738|RCV000364621|RCV000378220|RCV000769046|RCV001084999; | N | MedGen: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:C1858 | 2 | 179579035 | 179579035 | | | | ClinGen:CA282994 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.26350T>C (p.Trp8784Arg) | 7273 | TTN | Conflicting interpretations of pathogenicity | 375067750 | RCV001128989|RCV001135961|RCV001135962|RCV001135963|RCV001135964; | N | 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:C1863599,OMIM:603689, Orphanet:178464, | 2 | 179579151 | 179579151 | | | 2:g.179579151A>G | - | | |
NM_001267550.2(TTN):c.26200+19A>T | 7273 | TTN | Benign | 2562837 | RCV000180437|RCV001840040|RCV001840042|RCV001840043|RCV001840041|RCV002055626; | N | MedGen: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:C18373 | 2 | 179579694 | 179579694 | | | 2:g.179579694T>A | ClinGen:CA303069 | CN169374 not specified; | |
NM_001267550.2(TTN):c.26200+5G>A | 7273 | TTN | Uncertain significance | 727503645 | RCV000152393|RCV000262900|RCV000294802|RCV000329777|RCV000386818|RCV000381056|RCV000703552|RCV001562658|RCV002492566; | N | MedGen: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, | 2 | 179579708 | 179579708 | | | 2:g.179579708C>T | ClinGen:CA178953 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.26091A>T (p.Leu8697=) | 7273 | TTN | Benign | 2562836 | RCV000040043|RCV000254452|RCV000266637|RCV000272605|RCV000297288|RCV000361414|RCV000357928|RCV000993411|RCV001519600; | N | MedGen: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, | 2 | 179579822 | 179579822 | | | | ClinGen:CA282960 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.26012C>T (p.Pro8671Leu) | 7273 | TTN | Uncertain significance | 2077292301 | RCV001136090|RCV001136092|RCV001136091|RCV001136093|RCV001136094; | N | 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:C1858763,OMIM:604145,O | 2 | 179579901 | 179579901 | | | 2:g.179579901G>A | - | | |
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile) | 7273 | TTN | Conflicting interpretations of pathogenicity | 141856116 | RCV000040041|RCV000118746|RCV000249830|RCV000268699|RCV000293596|RCV000327425|RCV000333139|RCV000382034|RCV000769050|RCV000852887|RCV001083462; | N | MedGen: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:0011362 | 2 | 179579935 | 179579935 | | | 2:g.179579935C>T | ClinGen:CA139162 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.25942A>G (p.Lys8648Glu) | 7273 | TTN | Conflicting interpretations of pathogenicity | 188234466 | RCV000222950|RCV000286098|RCV000329768|RCV000280133|RCV000335156|RCV000392294|RCV000724263; | N | MedGen: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:C26736 | 2 | 179579971 | 179579971 | | | 2:g.179579971T>C | ClinGen:CA247912 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.25921+20G>A | 7273 | TTN | Benign/Likely benign | 148460010 | RCV000126156|RCV001725989|RCV001840037|RCV001840039|RCV001840036|RCV001840038|RCV002055625; | N | MedGen: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:C1863 | 2 | 179580200 | 179580200 | | | 2:g.179580200C>T | ClinGen:CA291534 | CN169374 not specified; | |
NM_001267550.2(TTN):c.25809G>A (p.Ser8603=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 369099681 | RCV000442226|RCV000865804|RCV001840500|RCV001840501|RCV001840502|RCV001840503|RCV003401415|RCV003422392; | N | 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:C1837342,OMIM:608807,Orp | 2 | 179580332 | 179580332 | | | 2:g.179580332C>T | ClinGen:CA2000139 | CN169374 not specified; | |
NM_001267550.2(TTN):c.25758C>T (p.Asp8586=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 372802604 | RCV000040038|RCV000290007|RCV000314787|RCV000345084|RCV000369514|RCV000393922|RCV000529441|RCV001697102; | N | MedGen: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, | 2 | 179580383 | 179580383 | | | 2:g.179580383G>A | ClinGen:CA139158 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.25704G>A (p.Arg8568=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 150544093 | RCV000040034|RCV000266857|RCV000272529|RCV000321972|RCV000382248|RCV000376394|RCV000463917|RCV001083818|RCV001170864; | N | MedGen: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:C18587 | 2 | 179580437 | 179580437 | | | 2:g.179580437C>T | ClinGen:CA139146 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.25660A>G (p.Lys8554Glu) | 7273 | TTN | Conflicting interpretations of pathogenicity | 201945791 | RCV000382422|RCV001131908|RCV001131909|RCV001131910|RCV001131911|RCV001129214; | N | 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:0011400,MedGen:C18587 | 2 | 179580481 | 179580481 | | | 2:g.179580481T>C | ClinGen:CA2000162 | CN169374 not specified; | |
NM_001267550.2(TTN):c.25640-4A>G | 7273 | TTN | Uncertain significance | 886055292 | RCV000287558|RCV000293376|RCV000351807|RCV000348460|RCV000407195; | N | 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:C1863599,OMIM:603689, Orphanet:178464,Orp | 2 | 179580505 | 179580505 | | | 2:g.179580505T>C | ClinGen:CA10613154 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.25626G>T (p.Gln8542His) | 7273 | TTN | Benign | 2562832 | RCV000040033|RCV000243395|RCV000265871|RCV000299458|RCV000306004|RCV000360749|RCV000390782|RCV000468055|RCV000993408; | N | MedGen: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:00121 | 2 | 179581835 | 179581835 | | | 2:g.179581835C>A | ClinGen:CA282944 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.25521A>G (p.Val8507=) | 7273 | TTN | Uncertain significance | 886055293 | RCV000271595|RCV000277944|RCV000326693|RCV000366275|RCV000381789; | N | 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, Orphanet:178464, | 2 | 179581940 | 179581940 | | | 2:g.179581940T>C | ClinGen:CA10611695 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His) | 7273 | TTN | Conflicting interpretations of pathogenicity | 149855485 | RCV000040029|RCV000082380|RCV000280234|RCV000293034|RCV000333108|RCV000374655|RCV000387544|RCV000852888|RCV001082276|RCV001798137; | N | MedGen: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, | 2 | 179581971 | 179581971 | | | 2:g.179581971C>T | ClinGen:CA139128 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu) | 7273 | TTN | Benign/Likely benign | 72648986 | RCV000040028|RCV000241841|RCV000302726|RCV000308714|RCV000338984|RCV000342507|RCV000391137|RCV000476103|RCV001528416; | N | MedGen: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:00127 | 2 | 179582063 | 179582063 | | | 2:g.179582063A>T | ClinGen:CA282939 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.25351+13C>G | 7273 | TTN | Benign/Likely benign | 138362885 | RCV000040027|RCV001725952|RCV001839560|RCV001839562|RCV001839559|RCV001839561|RCV002054777; | N | MedGen: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:C1863 | 2 | 179582237 | 179582237 | | | 2:g.179582237G>C | ClinGen:CA139127 | CN169374 not specified; | |
NM_001267550.2(TTN):c.25274G>A (p.Ser8425Asn) | 7273 | TTN | Benign | 13390491 | RCV000040026|RCV000244612|RCV000268920|RCV000274111|RCV000331503|RCV000363498|RCV000369447|RCV000993407|RCV001519601; | N | MedGen: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:00121 | 2 | 179582327 | 179582327 | | | 2:g.179582327C>T | ClinGen:CA282934 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.25223C>T (p.Thr8408Ile) | 7273 | TTN | Benign/Likely benign | 201432372 | RCV000040024|RCV000463533|RCV001703898|RCV001839551|RCV001839552|RCV001839553|RCV001839554|RCV002490553; | N | MedGen: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:C1837342 | 2 | 179582378 | 179582378 | | | 2:g.179582378G>A | ClinGen:CA139123 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.25209T>C (p.Asp8403=) | 7273 | TTN | Benign/Likely benign | 569860898 | RCV000126148|RCV000243716|RCV000459880|RCV001079401|RCV001840032|RCV001840033|RCV001840034|RCV001840035; | N | MedGen: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:0012127 | 2 | 179582392 | 179582392 | | | | ClinGen:CA291531 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.25196T>C (p.Leu8399Pro) | 7273 | TTN | Uncertain significance | 2077698375 | RCV001132965|RCV001132025|RCV001132966|RCV001132963|RCV001132964; | N | 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:0011400,MedGen:C1858763,OMIM:604145,O | 2 | 179582405 | 179582405 | | | 2:g.179582405A>G | - | | |
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu) | 7273 | TTN | Benign/Likely benign | 2627043 | RCV000040020|RCV000249333|RCV000263461|RCV000285591|RCV000316218|RCV000324243|RCV000355884|RCV000993406|RCV001519602; | N | MedGen: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:00121 | 2 | 179582537 | 179582537 | | | 2:g.179582537G>T | ClinGen:CA282917 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.24905C>A (p.Thr8302Lys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 549604128 | RCV000223295|RCV000259426|RCV000264760|RCV000317070|RCV000322196|RCV000361848|RCV000764343|RCV000769054|RCV000993405; | N | 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|MONDO:MONDO:0012127,MedGen:C1837342, | 2 | 179582828 | 179582828 | | | 2:g.179582828G>T | ClinGen:CA2000326 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.24891G>C (p.Trp8297Cys) | 7273 | TTN | Uncertain significance | 727504205 | RCV000360627|RCV001129524|RCV001129526|RCV001129527|RCV001129523|RCV001129525; | N | MedGen: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, | 2 | 179582842 | 179582842 | | | 2:g.179582842C>G | ClinGen:CA10605070 | CN169374 not specified; | |
NM_001267550.2(TTN):c.24756T>G (p.Asp8252Glu) | 7273 | TTN | Conflicting interpretations of pathogenicity | 764248656 | RCV000473976|RCV001134654|RCV001133195|RCV001133196|RCV001133197|RCV001134655|RCV001562414; | N | 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, Orphanet:154|MONDO: | 2 | 179583077 | 179583077 | | | NC_000002.11:g.179583077A>C | ClinGen:CA2000366 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.24613A>G (p.Ile8205Val) | 7273 | TTN | Uncertain significance | 747306219 | RCV001129642|RCV001129641|RCV001129643|RCV001129644|RCV001134661; | N | 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:C1837342,OMIM:608807,O | 2 | 179583220 | 179583220 | | | 2:g.179583220T>C | - | | |
NM_001267550.2(TTN):c.24579A>G (p.Thr8193=) | 7273 | TTN | Benign/Likely benign | 72648979 | RCV000040006|RCV000229252|RCV000297959|RCV000337749|RCV000355099|RCV000390539|RCV000407384; | N | MedGen: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,Orp | 2 | 179583254 | 179583254 | | | | ClinGen:CA282897 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.24528A>G (p.Arg8176=) | 7273 | TTN | Uncertain significance | 1162009739 | RCV001132358|RCV001132359|RCV001132360|RCV001132361|RCV001132362; | N | 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, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179583305 | 179583305 | | | 2:g.179583305T>C | - | | |
NM_001267550.2(TTN):c.24505+13C>T | 7273 | TTN | Benign/Likely benign | 534803807 | RCV000214424|RCV001840344|RCV001840345|RCV001840346|RCV002057154|RCV001840347; | N | MedGen: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:C18587 | 2 | 179583409 | 179583409 | | | 2:g.179583409G>A | ClinGen:CA2000421 | CN169374 not specified; | |
NM_001267550.2(TTN):c.24471C>T (p.Gly8157=) | 7273 | TTN | Benign/Likely benign | 113391261 | RCV000040003|RCV000253391|RCV000281144|RCV000277762|RCV000326295|RCV000387902|RCV000387214|RCV000474582|RCV000769056|RCV002227052; | N | MedGen: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:C1858 | 2 | 179583456 | 179583456 | | | | ClinGen:CA282887 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.24227-15C>T | 7273 | TTN | Benign/Likely benign | 397517505 | RCV000039998|RCV000259355|RCV000274525|RCV000318059|RCV000366822|RCV000374960|RCV001795018|RCV002054776; | N | MedGen: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, | 2 | 179583715 | 179583715 | | | 2:g.179583715G>A | ClinGen:CA139061 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.23965C>T (p.Arg7989Cys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 201653851 | RCV000154973|RCV000287568|RCV000326198|RCV000327268|RCV000387819|RCV000384268|RCV000725482|RCV001084561; | N | MedGen: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:C18373 | 2 | 179584152 | 179584152 | | | 2:g.179584152G>A | ClinGen:CA181876 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.23925C>T (p.Ser7975=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 374879942 | RCV000154974|RCV000476615|RCV001840155|RCV001840158|RCV001840157|RCV001840156|RCV003137671; | N | 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:C2673677,OMIM:611705,Orp | 2 | 179584294 | 179584294 | | | 2:g.179584294G>A | ClinGen:CA181880 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.23675T>C (p.Ile7892Thr) | 7273 | TTN | Uncertain significance | 201181445 | RCV000251510|RCV001133500|RCV001133497|RCV001133498|RCV001133499|RCV001134991|RCV002503956|RCV003137861; | N | 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,MedGen:C2673677, | 2 | 179584544 | 179584544 | | | NC_000002.11:g.179584544A>G | ClinGen:CA2000581 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.23654T>C (p.Val7885Ala) | 7273 | TTN | Uncertain significance | 2078098721 | RCV001129957|RCV001129955|RCV001129956|RCV001134998|RCV001134997; | N | 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,OMIM:608807,Orph | 2 | 179584715 | 179584715 | | | 2:g.179584715A>G | - | | |
NM_001267550.2(TTN):c.23601A>G (p.Ile7867Met) | 7273 | TTN | Uncertain significance | 1334032406 | RCV001129958|RCV001129960|RCV001129959|RCV001129961|RCV001129962; | N | 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, Orphanet:154|MON | 2 | 179584768 | 179584768 | | | 2:g.179584768T>C | - | | |
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu) | 7273 | TTN | Conflicting interpretations of pathogenicity | 149523263 | RCV000039991|RCV000082372|RCV000293069|RCV000335014|RCV000352590|RCV000390050|RCV000406710|RCV000852891|RCV001082941|RCV001798135; | N | MedGen: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:C1837342 | 2 | 179584831 | 179584831 | | | 2:g.179584831G>C | ClinGen:CA139042 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.23455G>C (p.Glu7819Gln) | 7273 | TTN | Conflicting interpretations of pathogenicity | 201420077 | RCV000217944|RCV000726095|RCV001133629|RCV001135125|RCV001135126|RCV001135127|RCV001135124; | N | MedGen: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:C2673677 | 2 | 179584914 | 179584914 | | | NC_000002.11:g.179584914C>G | ClinGen:CA2000623 | CN169374 not specified; | |
NM_001267550.2(TTN):c.23392G>A (p.Val7798Met) | 7273 | TTN | Conflicting interpretations of pathogenicity | 144032104 | RCV000039989|RCV000726274|RCV001130096|RCV001135128|RCV001135130|RCV001135129|RCV001135131; | N | MedGen: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:00114 | 2 | 179584977 | 179584977 | | | 2:g.179584977C>T | ClinGen:CA139034 | CN169374 not specified; | |
NM_001267550.2(TTN):c.23391C>T (p.Phe7797=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 754815317 | RCV001130099|RCV001130101|RCV001130100|RCV001130097|RCV001130098|RCV002070518; | N | 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, Orphanet:178464,Orp | 2 | 179584978 | 179584978 | | | 2:g.179584978G>A | - | | |
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu) | 7273 | TTN | Conflicting interpretations of pathogenicity | 17452588 | RCV000039983|RCV000248207|RCV000278120|RCV000284280|RCV000331984|RCV000337890|RCV000373899|RCV000372590|RCV000755421|RCV000770071|RCV001529703; | N | MedGen: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 O | 2 | 179585312 | 179585312 | | | 2:g.179585312G>A | ClinGen:CA139019 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.23147G>T (p.Gly7716Val) | 7273 | TTN | Uncertain significance | 751284978 | RCV001130938|RCV001130939|RCV001130940|RCV001130941|RCV001130942; | N | 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:C1858763,OMIM:604145,O | 2 | 179585342 | 179585342 | | | 2:g.179585342C>A | - | | |
NM_001267550.2(TTN):c.23099-3T>C | 7273 | TTN | Benign | 2562830 | RCV000039980|RCV000249872|RCV000309372|RCV000308239|RCV000344428|RCV000391948|RCV000392006|RCV000993402|RCV001519606; | N | MedGen: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, | 2 | 179585393 | 179585393 | | | 2:g.179585393A>G | ClinGen:CA282850 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.23029G>A (p.Gly7677Arg) | 7273 | TTN | Conflicting interpretations of pathogenicity | 367826445 | RCV000152399|RCV000172690|RCV000247819|RCV000261369|RCV000273970|RCV000316577|RCV000368549|RCV000369809|RCV001085387; | N | MedGen: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|M | 2 | 179585717 | 179585717 | | | 2:g.179585717C>T | ClinGen:CA178971 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.22966A>G (p.Asn7656Asp) | 7273 | TTN | Conflicting interpretations of pathogenicity | 184123332 | RCV001131063|RCV001131064|RCV001131065|RCV001131066|RCV001134027|RCV003142062; | N | 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, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179585780 | 179585780 | | | 2:g.179585780T>C | - | | |
NM_001267550.2(TTN):c.22696G>A (p.Val7566Met) | 7273 | TTN | Uncertain significance | 2078438102 | RCV001134028|RCV001134029|RCV001135524|RCV001135525|RCV001135526; | N | 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, Orphanet:609|MON | 2 | 179586694 | 179586694 | | | 2:g.179586694C>T | - | | |
NM_001267550.2(TTN):c.22673G>T (p.Gly7558Val) | 7273 | TTN | Uncertain significance | 886055294 | RCV000259953|RCV000301207|RCV000314168|RCV000354862|RCV000355973; | N | 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:C2673677,OMIM:611705,O | 2 | 179586717 | 179586717 | | | 2:g.179586717C>A | ClinGen:CA10613156 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.22659G>A (p.Lys7553=) | 7273 | TTN | Uncertain significance | 2078449618 | RCV001130458|RCV001130460|RCV001130459|RCV001130456|RCV001130457; | N | 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, Orphanet:289377|MON | 2 | 179586731 | 179586731 | | | 2:g.179586731C>T | - | | |
NM_001267550.2(TTN):c.22611T>C (p.His7537=) | 7273 | TTN | Benign/Likely benign | 16866469 | RCV000039972|RCV000242654|RCV000296103|RCV000290099|RCV000331096|RCV000351130|RCV000402050|RCV000465179|RCV000770075|RCV001529227; | N | MedGen: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:C1863599 | 2 | 179586779 | 179586779 | | | | ClinGen:CA282830 | | |
NM_001267550.2(TTN):c.22531C>T (p.Pro7511Ser) | 7273 | TTN | Uncertain significance | 727505333 | RCV000156882|RCV000726200|RCV003147366|RCV003147368|RCV003147370|RCV003147367|RCV003147369|RCV003147371; | N | MedGen: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:C18587 | 2 | 179586859 | 179586859 | | | 2:g.179586859G>A | ClinGen:CA185765 | CN169374 not specified; | |
NM_001267550.2(TTN):c.22528+12C>T | 7273 | TTN | Uncertain significance | 756012779 | RCV001131182|RCV001134151|RCV001134152|RCV001134149|RCV001134150; | N | 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, Orphanet:178464, | 2 | 179586974 | 179586974 | | | 2:g.179586974G>A | - | | |
NM_001267550.2(TTN):c.22473C>T (p.Cys7491=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 566454891 | RCV000278054|RCV000303166|RCV000337818|RCV000357914|RCV000393020|RCV000868462|RCV001672566; | N | 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:C1837342,OMIM:608807,O | 2 | 179587041 | 179587041 | | | 2:g.179587041G>A | ClinGen:CA2000833 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.22439A>C (p.Gln7480Pro) | 7273 | TTN | Conflicting interpretations of pathogenicity | 201065037 | RCV000467240|RCV000727733|RCV001135645|RCV001135646|RCV001135647|RCV001135649|RCV001135648; | N | MONDO: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, | 2 | 179587075 | 179587075 | | | 2:g.179587075T>G | ClinGen:CA312010 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.22420G>A (p.Ala7474Thr) | 7273 | TTN | Conflicting interpretations of pathogenicity | 759713604 | RCV000185409|RCV000275340|RCV000304195|RCV000329111|RCV000365247|RCV000363577|RCV000458691|RCV001798659|RCV003422080; | N | MedGen: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, | 2 | 179587094 | 179587094 | | | 2:g.179587094C>T | ClinGen:CA312007 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.22384G>C (p.Asp7462His) | 7273 | TTN | Benign/Likely benign | 12693166 | RCV000039968|RCV000253623|RCV000282599|RCV000295291|RCV000317518|RCV000330188|RCV000372427|RCV000713991|RCV001523691; | N | MedGen: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:C1863599 | 2 | 179587130 | 179587130 | | | 2:g.179587130C>G | ClinGen:CA282825 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.22240+14A>G | 7273 | TTN | Uncertain significance | 1288832655 | RCV001131305|RCV001131304|RCV001131306|RCV001134287|RCV001134288; | N | 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,OMIM:604145,O | 2 | 179587372 | 179587372 | | | 2:g.179587372T>C | - | | |
NM_001267550.2(TTN):c.22240+7A>C | 7273 | TTN | Conflicting interpretations of pathogenicity | 368101794 | RCV000154977|RCV000869214|RCV001134293|RCV001134289|RCV001134290|RCV001134291|RCV001134292|RCV001529553; | N | MedGen: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,Orp | 2 | 179587379 | 179587379 | | | 2:g.179587379T>G | ClinGen:CA181887 | CN169374 not specified; | |
NM_001267550.2(TTN):c.21981G>T (p.Thr7327=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 775230627 | RCV000430689|RCV001128772|RCV001128773|RCV001131422|RCV001131423|RCV001131424|RCV001394487; | N | MedGen: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:C26736 | 2 | 179587645 | 179587645 | | | 2:g.179587645C>A | ClinGen:CA16604212 | CN169374 not specified; | |
NM_001267550.2(TTN):c.21962-6C>T | 7273 | TTN | Conflicting interpretations of pathogenicity | 374870814 | RCV000527935|RCV001131425|RCV001131426|RCV001131428|RCV001131427|RCV001131429|RCV001269144|RCV001171046|RCV001712508; | N | 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, Orphanet:609|MON | 2 | 179587670 | 179587670 | | | 2:g.179587670G>A | ClinGen:CA2000914 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.21956C>T (p.Thr7319Ile) | 7273 | TTN | Uncertain significance | 876658043 | RCV000217872|RCV000261341|RCV000264761|RCV000318694|RCV000322250|RCV000375614|RCV000713989; | N | 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:C1863599,OMIM:603689,Orp | 2 | 179587778 | 179587778 | | | 2:g.179587778G>A | ClinGen:CA10576553 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.21844G>A (p.Glu7282Lys) | 7273 | TTN | Uncertain significance | 778532757 | RCV000287082|RCV000290156|RCV000344364|RCV000347487|RCV000382590|RCV000591613|RCV000770078; | N | 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, Orphanet:609|MON | 2 | 179587890 | 179587890 | | | 2:g.179587890C>T | ClinGen:CA2000939 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr) | 7273 | TTN | Benign/Likely benign | 187925021 | RCV000039960|RCV000172691|RCV000265623|RCV000262133|RCV000300897|RCV000322946|RCV000357981|RCV001086477|RCV001171047; | N | MedGen: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, | 2 | 179587955 | 179587955 | | | 2:g.179587955G>T | ClinGen:CA138967 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His) | 7273 | TTN | Conflicting interpretations of pathogenicity | 138853909 | RCV000039958|RCV000269064|RCV000326449|RCV000350254|RCV000388473|RCV000384905|RCV000713986|RCV001086766|RCV001170080; | N | 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:C1863599,OMIM:603689,Orp | 2 | 179588159 | 179588159 | | | 2:g.179588159C>T | ClinGen:CA138962 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.21555C>A (p.Ile7185=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 201155967 | RCV000154979|RCV000232778|RCV000271009|RCV000303705|RCV000307316|RCV000360759|RCV000364338|RCV000770081|RCV001081223; | N | MedGen: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:C1858 | 2 | 179588272 | 179588272 | | | | ClinGen:CA295759 | | |
NM_001267550.2(TTN):c.21506A>C (p.Asn7169Thr) | 7273 | TTN | Uncertain significance | 786205314 | RCV001131547|RCV001131548|RCV001134541|RCV001134542|RCV001134543; | N | 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, Orphanet:178464,Orp | 2 | 179588321 | 179588321 | | | 2:g.179588321T>G | - | | |
NM_001267550.2(TTN):c.21489C>G (p.Thr7163=) | 7273 | TTN | Benign/Likely benign | 376882041 | RCV000154981|RCV000534956|RCV001840028|RCV001840030|RCV001840029|RCV001840031; | N | 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:C1863599,OMIM:603689,Orp | 2 | 179588338 | 179588338 | | | | ClinGen:CA295763 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr) | 7273 | TTN | Conflicting interpretations of pathogenicity | 201394117 | RCV000039953|RCV000082370|RCV000275531|RCV000278937|RCV000333001|RCV000367843|RCV000389765|RCV001079235|RCV001170083; | N | MedGen: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:00127 | 2 | 179588622 | 179588622 | | | 2:g.179588622C>T | ClinGen:CA138945 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.21148C>T (p.Leu7050=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 202089818 | RCV000154983|RCV000312387|RCV000343275|RCV000365169|RCV000392004|RCV000402063|RCV000725719|RCV001081065|RCV001170085; | N | MedGen: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, | 2 | 179588838 | 179588838 | | | | ClinGen:CA295767 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn) | 7273 | TTN | Benign/Likely benign | 72648962 | RCV000039951|RCV000204819|RCV000245217|RCV000261603|RCV000316047|RCV000319084|RCV000354529|RCV000369529|RCV000770083|RCV001082805; | N | MedGen: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:0012127 | 2 | 179588996 | 179588996 | | | 2:g.179588996C>T | ClinGen:CA282798 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val) | 7273 | TTN | Benign/Likely benign | 72648960 | RCV000039950|RCV000253287|RCV000287787|RCV000323022|RCV000345071|RCV000376615|RCV000380025|RCV000469937|RCV000770084|RCV000993397; | N | MedGen: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:00121 | 2 | 179589058 | 179589058 | | | 2:g.179589058G>A | ClinGen:CA282793 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.20861C>T (p.Ala6954Val) | 7273 | TTN | Benign | 17355446 | RCV000039947|RCV000253741|RCV000291382|RCV000313861|RCV000348985|RCV000370842|RCV000400666|RCV001517444; | N | MedGen: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:00114 | 2 | 179589241 | 179589241 | | | 2:g.179589241G>A | ClinGen:CA282783 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.20772G>T (p.Lys6924Asn) | 7273 | TTN | Uncertain significance | 369993514 | RCV000263538|RCV000298875|RCV000302460|RCV000355916|RCV000391091; | N | 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,OMIM:611705,Orph | 2 | 179590159 | 179590159 | | | 2:g.179590159C>A | ClinGen:CA10611698 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.20680G>C (p.Val6894Leu) | 7273 | TTN | Uncertain significance | 774362265 | RCV000266393|RCV000267277|RCV000321469|RCV000376061|RCV000381693; | N | 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, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179590251 | 179590251 | | | 2:g.179590251C>G | ClinGen:CA2001169 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.20418A>C (p.Lys6806Asn) | 7273 | TTN | Conflicting interpretations of pathogenicity | 768932465 | RCV000281508|RCV000296750|RCV000336597|RCV000351488|RCV000399478|RCV001704954; | N | 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, Orphanet:609|MON | 2 | 179590631 | 179590631 | | | 2:g.179590631T>G | ClinGen:CA311930 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 72648958 | RCV000039941|RCV000172694|RCV001079880|RCV001131917|RCV001131918|RCV001131919|RCV001132884|RCV001132883|RCV001798134; | N | MedGen: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:C1858763 | 2 | 179590708 | 179590708 | | | 2:g.179590708C>T | ClinGen:CA138917 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.20326G>A (p.Ala6776Thr) | 7273 | TTN | Uncertain significance | 886055295 | RCV000311844|RCV000308080|RCV000348079|RCV000362729|RCV000406952|RCV001798790; | N | 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,OMIM:608807,Orph | 2 | 179590723 | 179590723 | | | 2:g.179590723C>T | ClinGen:CA10611699 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.20236G>A (p.Ala6746Thr) | 7273 | TTN | Benign/Likely benign | 202108224 | RCV000039938|RCV000472656|RCV001703896|RCV001839531|RCV001839532|RCV001839534|RCV001839533; | N | MedGen: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:C1837342 | 2 | 179591856 | 179591856 | | | 2:g.179591856C>T | ClinGen:CA138904 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met) | 7273 | TTN | Conflicting interpretations of pathogenicity | 146627500 | RCV000039937|RCV000082367|RCV000260706|RCV000264795|RCV000304724|RCV000319862|RCV000359492|RCV000852896|RCV001082940|RCV001798132; | N | MedGen: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:C2673677 | 2 | 179591917 | 179591917 | | | 2:g.179591917T>C | ClinGen:CA138899 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.20142C>T (p.Tyr6714=) | 7273 | TTN | Benign/Likely benign | 535793314 | RCV000156726|RCV000877286|RCV001840196|RCV001840198|RCV001840197|RCV001840199; | N | 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:C1863599,OMIM:603689,Orp | 2 | 179591950 | 179591950 | | | 2:g.179591950G>A | ClinGen:CA185441 | CN169374 not specified; | |
NM_001267550.2(TTN):c.20108G>A (p.Arg6703Gln) | 7273 | TTN | Conflicting interpretations of pathogenicity | 546821182 | RCV000727008|RCV001132033|RCV001132029|RCV001132031|RCV001132030|RCV001132032; | N | 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:C1863599,OMIM:603689,Orp | 2 | 179591984 | 179591984 | | | 2:g.179591984C>T | ClinGen:CA311913 | CN169374 not specified; | |
NM_001267550.2(TTN):c.20025C>A (p.Ala6675=) | 7273 | TTN | Benign/Likely benign | 373842558 | RCV000039935|RCV000462609|RCV001839527|RCV001839528|RCV001839529|RCV001839530; | N | 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:C1837342,OMIM:608807,Orp | 2 | 179592067 | 179592067 | | | 2:g.179592067G>T | ClinGen:CA138895 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.19994-13C>T | 7273 | TTN | Conflicting interpretations of pathogenicity | 775393005 | RCV001132976|RCV001132977|RCV001132978|RCV001136405|RCV001136406; | N | 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, Orphanet:178464,Orp | 2 | 179592111 | 179592111 | | | 2:g.179592111G>A | - | | |
NM_001267550.2(TTN):c.19818A>G (p.Lys6606=) | 7273 | TTN | Benign/Likely benign | 397517492 | RCV000039932|RCV000458095|RCV001839523|RCV001839525|RCV001839524|RCV001839526; | N | 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:C1863599,OMIM:603689,Orp | 2 | 179592487 | 179592487 | | | 2:g.179592487T>C | ClinGen:CA138886 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.19770A>G (p.Thr6590=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 775289296 | RCV001129430|RCV001129432|RCV001129431|RCV001129433|RCV001136412|RCV000828821|RCV001494210|RCV001729671; | N | 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:C1863599,OMIM:603689, Orphanet:178464, | 2 | 179592535 | 179592535 | | | NC_000002.11:g.179592535T>C | ClinGen:CA2001339 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.19497T>C (p.His6499=) | 7273 | TTN | Uncertain significance | 1223390157 | RCV001132155|RCV001132156|RCV001133077|RCV001133078|RCV001133079; | N | 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, Orphanet:178464,Orp | 2 | 179593054 | 179593054 | | | 2:g.179593054A>G | - | | |
NM_001267550.2(TTN):c.19447T>C (p.Phe6483Leu) | 7273 | TTN | Uncertain significance | 373750655 | RCV001133080|RCV001133081|RCV000643103|RCV001133083|RCV001133082|RCV001133084|RCV001508477; | N | 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:C1858763,OMIM:604145, Orphanet:154|MON | 2 | 179593104 | 179593104 | | | NC_000002.11:g.179593104A>G | ClinGen:CA2001394 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.19377G>A (p.Val6459=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 371652207 | RCV001129528|RCV001129529|RCV001136530|RCV001136531|RCV001136532|RCV001447814; | N | 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:0012127,MedGen:C1837342,OMIM:608807,O | 2 | 179593276 | 179593276 | | | 2:g.179593276C>T | - | | |
NM_001267550.2(TTN):c.19370T>C (p.Phe6457Ser) | 7273 | TTN | Uncertain significance | 2079785463 | RCV001129531|RCV001129533|RCV001129530|RCV001129532|RCV001129534; | N | 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:C2673677,OMIM:611705,O | 2 | 179593283 | 179593283 | | | 2:g.179593283A>G | - | | |
NM_001267550.2(TTN):c.19356C>T (p.Ser6452=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 369275615 | RCV000039927|RCV000274068|RCV000325828|RCV000329256|RCV000368729|RCV000383781|RCV000865191|RCV001079227; | N | 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:0011362,MedGen:C1863599,OMIM:603689,Orp | 2 | 179593297 | 179593297 | | | 2:g.179593297G>A | ClinGen:CA138877 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.19004A>G (p.Asp6335Gly) | 7273 | TTN | Benign/Likely benign | 72648951 | RCV000039921|RCV000230099|RCV000309848|RCV000345911|RCV000349565|RCV000398547|RCV000399366|RCV000769065|RCV001573306; | N | MedGen: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, | 2 | 179593761 | 179593761 | | | 2:g.179593761T>C | ClinGen:CA282738 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.18942C>T (p.Thr6314=) | 7273 | TTN | Benign/Likely benign | 572285982 | RCV000614645|RCV000870319|RCV001840697|RCV001840699|RCV001840700|RCV001840698; | N | 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:C1863599,OMIM:603689,Orp | 2 | 179593823 | 179593823 | | | 2:g.179593823G>A | ClinGen:CA2001494 | CN169374 not specified; | |
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser) | 7273 | TTN | Conflicting interpretations of pathogenicity | 184412722 | RCV000039916|RCV000082364|RCV000262868|RCV000296922|RCV000302779|RCV000342596|RCV000355321|RCV000852901|RCV001082917|RCV001798131; | N | MedGen: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:00114 | 2 | 179594059 | 179594059 | | | 2:g.179594059T>C | ClinGen:CA138852 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.18816T>C (p.Ile6272=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 146219199 | RCV000039915|RCV000253545|RCV000272168|RCV000329497|RCV000330701|RCV000370173|RCV000387580|RCV000462864|RCV001170639|RCV001311557; | N | MedGen: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:C1863599 | 2 | 179594067 | 179594067 | | | 2:g.179594067A>G | ClinGen:CA138848 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser) | 7273 | TTN | Conflicting interpretations of pathogenicity | 72648949 | RCV000039914|RCV000229581|RCV000246252|RCV000283432|RCV000289663|RCV000341928|RCV000340760|RCV000380242|RCV000852902|RCV001080584|RCV001170640; | N | MedGen: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|M | 2 | 179594107 | 179594107 | | | 2:g.179594107G>C | ClinGen:CA138843 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn) | 7273 | TTN | Conflicting interpretations of pathogenicity | 201263441 | RCV000039913|RCV000172695|RCV000313481|RCV000335088|RCV000370482|RCV000394105|RCV000390068|RCV001087573|RCV001170641|RCV001249282; | N | MedGen: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, | 2 | 179594138 | 179594138 | | | 2:g.179594138C>T | ClinGen:CA138838 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.18690C>T (p.Val6230=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 754536598 | RCV001133392|RCV001133394|RCV001133390|RCV001133391|RCV001133393|RCV001400607; | N | 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, Orphanet:140922|MON | 2 | 179594193 | 179594193 | | | 2:g.179594193G>A | - | | |
NM_001267550.2(TTN):c.18669G>A (p.Thr6223=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 772600691 | RCV000729688|RCV001079486|RCV001134870|RCV001134872|RCV001129859|RCV001134871|RCV001134873|RCV001701436; | N | MedGen: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,Orp | 2 | 179594214 | 179594214 | | | NC_000002.11:g.179594214C>T | - | | |
NM_001267550.2(TTN):c.18531G>C (p.Val6177=) | 7273 | TTN | Benign/Likely benign | 370684491 | RCV000039909|RCV000472261|RCV001811286|RCV001839519|RCV001839520|RCV001839521|RCV001839522; | N | MedGen: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:C1837342 | 2 | 179594449 | 179594449 | | | 2:g.179594449C>G | ClinGen:CA138824 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.18493A>G (p.Ile6165Val) | 7273 | TTN | Uncertain significance | 886055296 | RCV000278496|RCV000335931|RCV000350128|RCV000397817|RCV000400295; | N | 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,OMIM:608807,Orph | 2 | 179594487 | 179594487 | | | 2:g.179594487T>C | ClinGen:CA10611703 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.18472G>A (p.Asp6158Asn) | 7273 | TTN | Uncertain significance | 2080068286 | RCV001133501|RCV001133503|RCV001133504|RCV001133505|RCV001133502; | N | 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,OMIM:608807,Orph | 2 | 179594508 | 179594508 | | | 2:g.179594508C>T | - | | |
NM_001267550.2(TTN):c.18470T>C (p.Ile6157Thr) | 7273 | TTN | Conflicting interpretations of pathogenicity | 371882162 | RCV000605914|RCV001133506|RCV001133507|RCV001133508|RCV001135000|RCV001134999|RCV001724082; | N | 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:C2673677,OMIM:611705,Orp | 2 | 179594510 | 179594510 | | | 2:g.179594510A>G | ClinGen:CA2001612 | CN169374 not specified; | |
NM_001267550.2(TTN):c.18390A>T (p.Thr6130=) | 7273 | TTN | Benign/Likely benign | 66523653 | RCV000039908|RCV000264193|RCV000304188|RCV000310471|RCV000361210|RCV000362872|RCV000474141|RCV001530120; | N | 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:C1837342,OMIM:608807,Orp | 2 | 179594590 | 179594590 | | | | ClinGen:CA282716 | | |
NM_001267550.2(TTN):c.18364T>C (p.Ser6122Pro) | 7273 | TTN | Uncertain significance | 2080087332 | RCV001130667|RCV001130669|RCV001130668|RCV001130670|RCV001130671|RCV001760092; | N | 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:C1858763,OMIM:604145,O | 2 | 179594616 | 179594616 | | | 2:g.179594616A>G | - | | |
NM_001267550.2(TTN):c.18363G>A (p.Gln6121=) | 7273 | TTN | Benign/Likely benign | 375032616 | RCV000039907|RCV000867159|RCV001573487|RCV001839515|RCV001839517|RCV001839516|RCV001839518; | N | MedGen: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:C1863599 | 2 | 179594617 | 179594617 | | | 2:g.179594617C>T | ClinGen:CA138820 | CN169374 not specified; | |
NM_001267550.2(TTN):c.18247A>G (p.Ile6083Val) | 7273 | TTN | Conflicting interpretations of pathogenicity | 374012753 | RCV001135133|RCV001135132|RCV001135134|RCV001135135|RCV001135136|RCV003142070; | N | 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, Orphanet:609|MON | 2 | 179594880 | 179594880 | | | 2:g.179594880T>C | - | | |
NM_001267550.2(TTN):c.18055_18056del (p.Gln6019fs) | 7273 | TTN | Uncertain significance | 2080219754 | RCV001196494; | N | MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609 | 2 | 179595071 | 179595072 | | | 2:g.179595071_179595072del | - | | |
NM_001267550.2(TTN):c.17396A>G (p.Lys5799Arg) | 7273 | TTN | Uncertain significance | 572678771 | RCV001135267|RCV001135268|RCV001135266|RCV001135269|RCV001135270; | N | 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, Orphanet:609|MON | 2 | 179596097 | 179596097 | | | 2:g.179596097T>C | - | | |
NM_001267550.2(TTN):c.17328A>G (p.Ile5776Met) | 7273 | TTN | Uncertain significance | 928844023 | RCV001130234|RCV001130236|RCV001130945|RCV000643596|RCV001130235|RCV001130946|RCV003140011; | N | 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:0012127,MedGen:C1837342,OMIM:608807,O | 2 | 179596165 | 179596165 | | | 2:g.179596165T>C | ClinGen:CA60979211 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.17300G>A (p.Ser5767Asn) | 7273 | TTN | Benign/Likely benign | 200692495 | RCV000039896|RCV000462843|RCV001703894|RCV001839511|RCV001839512|RCV001839513|RCV001839514; | N | MedGen: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:C1837342 | 2 | 179596193 | 179596193 | | | 2:g.179596193C>T | ClinGen:CA138796 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.17278del (p.Thr5760fs) | 7273 | TTN | Uncertain significance | 2080494323 | RCV001198234; | N | MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609 | 2 | 179596215 | 179596215 | | | 2:g.179596215_179596215del | - | | |
NM_001267550.2(TTN):c.17115C>T (p.Gly5705=) | 7273 | TTN | Benign/Likely benign | 370036981 | RCV000218752|RCV000474595|RCV001697288|RCV001840336|RCV001840337|RCV001840339|RCV001840338; | N | MedGen: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:C1837342 | 2 | 179596487 | 179596487 | | | 2:g.179596487G>A | ClinGen:CA2001914 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.16934C>T (p.Pro5645Leu) | 7273 | TTN | Conflicting interpretations of pathogenicity | 370889765 | RCV000275139|RCV000309232|RCV000314970|RCV000366312|RCV000367396|RCV000476843|RCV000713978|RCV000770094; | N | 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, Orphanet:178464, | 2 | 179596668 | 179596668 | | | 2:g.179596668G>A | ClinGen:CA2001941 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.16743T>C (p.Asp5581=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 754798297 | RCV000264269|RCV000272606|RCV000324003|RCV000377541|RCV000378629|RCV001447964; | N | 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:C1858763,OMIM:604145, Orphanet:154|MON | 2 | 179596953 | 179596953 | | | 2:g.179596953A>G | ClinGen:CA2001982 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.16716A>G (p.Pro5572=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 367821526 | RCV000713977|RCV001085832|RCV001135527|RCV001135528|RCV001135529|RCV001134032|RCV001135530; | N | MedGen: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, | 2 | 179596980 | 179596980 | | | 2:g.179596980T>C | ClinGen:CA246404 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.16709C>T (p.Thr5570Ile) | 7273 | TTN | Uncertain significance | 535319438 | RCV000279494|RCV000280417|RCV000315829|RCV000349497|RCV000374930|RCV000397623|RCV000461528|RCV000770097|RCV003137956; | N | MONDO: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:34 | 2 | 179596987 | 179596987 | | | 2:g.179596987G>A | ClinGen:CA2001988 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.16563A>C (p.Thr5521=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 886055297 | RCV000295528|RCV000310643|RCV000345720|RCV000365515|RCV000399838|RCV001454068; | N | 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, Orphanet:178464,Orp | 2 | 179597225 | 179597225 | | | 2:g.179597225T>G | ClinGen:CA10613351 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys) | 7273 | TTN | Benign/Likely benign | 72648939 | RCV000039887|RCV000172698|RCV000245937|RCV000266899|RCV000263772|RCV000317401|RCV000353553|RCV000362060|RCV000770099|RCV001083968; | N | MedGen: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:0012714 | 2 | 179597259 | 179597259 | | | 2:g.179597259T>C | ClinGen:CA238521 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.16422A>G (p.Gln5474=) | 7273 | TTN | Benign/Likely benign | 371026448 | RCV000039886|RCV000473791|RCV001811284|RCV001839507|RCV001839509|RCV001839508|RCV001839510; | N | MedGen: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:C1863599 | 2 | 179597366 | 179597366 | | | 2:g.179597366T>C | ClinGen:CA138768 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.16391G>C (p.Gly5464Ala) | 7273 | TTN | Conflicting interpretations of pathogenicity | 377023302 | RCV000770100|RCV001135656|RCV001135652|RCV001135653|RCV001135654|RCV001135655|RCV003141756; | N | Human 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,OMIM | 2 | 179597397 | 179597397 | | | NC_000002.11:g.179597397C>G | - | | |
NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg) | 7273 | TTN | Conflicting interpretations of pathogenicity | 190636272 | RCV000039885|RCV000172406|RCV001080301|RCV001130570|RCV001130571|RCV001130572|RCV001130573|RCV001135657|RCV003149638; | N | MedGen: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:C1858763 | 2 | 179597590 | 179597590 | | | 2:g.179597590T>C | ClinGen:CA138763 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met) | 7273 | TTN | Conflicting interpretations of pathogenicity | 72648937 | RCV000039884|RCV000242487|RCV000293024|RCV000318931|RCV000333991|RCV000387402|RCV000387868|RCV000458298|RCV000770101|RCV000852911|RCV001529446; | N | MedGen: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:C1858 | 2 | 179597600 | 179597600 | | | 2:g.179597600C>T | ClinGen:CA282698 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter) | 7273 | TTN | Conflicting interpretations of pathogenicity | 772235481 | RCV000312986|RCV000415222|RCV000814903|RCV003319194; | N | MedGen: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,O | 2 | 179597615 | 179597615 | | | NC_000002.11:g.179597615G>A | ClinGen:CA10604206 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.16275G>A (p.Gly5425=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 772821743 | RCV000289802|RCV000340159|RCV000343861|RCV000397399|RCV000395707|RCV000458923|RCV001464347; | N | 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:C1858763,OMIM:604145,O | 2 | 179597628 | 179597628 | | | 2:g.179597628C>T | ClinGen:CA2002064 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.16212G>C (p.Arg5404Ser) | 7273 | TTN | Uncertain significance | 758704167 | RCV001198134; | N | MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609 | 2 | 179597691 | 179597691 | | | 2:g.179597691C>G | - | | |
NM_001267550.2(TTN):c.16060G>C (p.Asp5354His) | 7273 | TTN | Uncertain significance | 745578038 | RCV000299472|RCV000314592|RCV000349423|RCV000369281|RCV000390145|RCV002281087; | N | 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,OMIM:611705,Orph | 2 | 179597843 | 179597843 | | | 2:g.179597843C>G | ClinGen:CA2002096 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.16056T>C (p.Asp5352=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 376820575 | RCV000270807|RCV000271953|RCV000307254|RCV000366454|RCV000377053|RCV000713976|RCV001080876|RCV001699321|RCV001798791; | N | 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:C2673677,OMIM:611705,O | 2 | 179597847 | 179597847 | | | 2:g.179597847A>G | ClinGen:CA2002100 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.16055-9A>C | 7273 | TTN | Benign/Likely benign | 368897883 | RCV000039881|RCV000468200|RCV001811283|RCV001839503|RCV001839504|RCV001839505|RCV001839506; | N | MedGen: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:C1837342 | 2 | 179597857 | 179597857 | | | 2:g.179597857T>G | ClinGen:CA138758 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.15850G>A (p.Val5284Met) | 7273 | TTN | Benign/Likely benign | 66839174 | RCV000039878|RCV000232564|RCV001839495|RCV001839496|RCV001839497|RCV001839498|RCV003326337; | N | 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:C1837342,OMIM:608807,Orp | 2 | 179598170 | 179598170 | | | 2:g.179598170C>T | ClinGen:CA138745 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.15831C>T (p.Pro5277=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 780784090 | RCV000294245|RCV000314219|RCV000343781|RCV000349242|RCV000397496|RCV001427751; | N | 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,OMIM:611705,Orph | 2 | 179598189 | 179598189 | | | 2:g.179598189G>A | ClinGen:CA2002143 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.15797G>A (p.Arg5266Gln) | 7273 | TTN | Uncertain significance | 749816144 | RCV001135876|RCV001135877|RCV001135878|RCV001135879|RCV001135880|RCV002473204; | N | 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, Orphanet:140922|MON | 2 | 179598223 | 179598223 | | | 2:g.179598223C>T | - | | |
NM_001267550.2(TTN):c.15796C>T (p.Arg5266Ter) | 7273 | TTN | Conflicting interpretations of pathogenicity | 372277017 | RCV000118735|RCV000807735|RCV003159098|RCV003320566; | N | 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|MedGen:CN517202|MONDO:MONDO:0007335,MeSH:C566121,MedGen:C1861537,OM | 2 | 179598224 | 179598224 | | | NC_000002.11:g.179598224G>A | ClinGen:CA269788 | C1838244 600334 Distal myopathy Markesbery-Griggs type; | |
NM_001267550.2(TTN):c.15792T>C (p.Ile5264=) | 7273 | TTN | Benign/Likely benign | 12993099 | RCV000039877|RCV000245760|RCV000260559|RCV000305293|RCV000308776|RCV000360019|RCV000402114|RCV001523692; | N | MedGen: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:C2673677 | 2 | 179598228 | 179598228 | | | 2:g.179598228A>G | ClinGen:CA282688 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.15775+15A>C | 7273 | TTN | Conflicting interpretations of pathogenicity | 776801864 | RCV001128872|RCV001128873|RCV001128874|RCV001131549|RCV001131550|RCV000610924|RCV002063204; | N | 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, Orphanet:154|MON | 2 | 179598326 | 179598326 | | | 2:g.179598326T>G | ClinGen:CA2002166 | CN169374 not specified; | |
NM_001267550.2(TTN):c.15561G>T (p.Leu5187=) | 7273 | TTN | Benign | 779159076 | RCV000252153|RCV000577965|RCV000578080|RCV000578017|RCV001840434|RCV001840435; | N | 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:C1863599,OMIM:603689,Orp | 2 | 179598555 | 179598555 | | | 2:g.179598555C>A | ClinGen:CA10586804 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.15561G>A (p.Leu5187=) | 7273 | TTN | Benign/Likely benign | 779159076 | RCV000247397|RCV000577943|RCV000577998|RCV000578057|RCV000868824|RCV001582888|RCV001840432|RCV001840433; | N | MedGen: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,Orp | 2 | 179598555 | 179598555 | | | 2:g.179598555C>T | ClinGen:CA2002201 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.15542G>C (p.Gly5181Ala) | 7273 | TTN | Benign/Likely benign | 201185434 | RCV000039872|RCV000459290|RCV001703893|RCV001839487|RCV001839488|RCV001839489|RCV001839490; | N | MedGen: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:C1837342 | 2 | 179598574 | 179598574 | | | 2:g.179598574C>G | ClinGen:CA138729 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.15499C>A (p.Pro5167Thr) | 7273 | TTN | Uncertain significance | 1031284707 | RCV000596435|RCV001134557|RCV001135965|RCV001135967|RCV001135966|RCV001135968; | N | 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,MedGen:C2673677, | 2 | 179598617 | 179598617 | | | 2:g.179598617G>T | ClinGen:CA60980607 | CN169374 not specified; | |
NM_001267550.2(TTN):c.15497-4C>G | 7273 | TTN | Uncertain significance | 2080975329 | RCV001128996|RCV001135969|RCV001135970|RCV001135971|RCV001135972; | N | 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,OMIM:604145,O | 2 | 179598623 | 179598623 | | | 2:g.179598623G>C | - | | |
NM_001267550.2(TTN):c.15408G>A (p.Ser5136=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 761269554 | RCV000299401|RCV000305500|RCV000353276|RCV000395789|RCV000401034|RCV001412070|RCV002469132|RCV003311763; | N | 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, Orphanet:178464, | 2 | 179599143 | 179599143 | | | 2:g.179599143C>T | ClinGen:CA2002230 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.15253G>A (p.Asp5085Asn) | 7273 | TTN | Uncertain significance | 374299783 | RCV001131671|RCV001131673|RCV001131672|RCV001131674|RCV001131675|RCV003142063; | N | 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:0012714,MedGen:C2673677,OMIM:611705,O | 2 | 179599298 | 179599298 | | | 2:g.179599298C>T | - | | |
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu) | 7273 | TTN | Conflicting interpretations of pathogenicity | 72648929 | RCV000039869|RCV000245443|RCV000273361|RCV000277012|RCV000331058|RCV000356589|RCV000369337|RCV000416068|RCV000769081|RCV000852913|RCV001079457|RCV002227928; | N | MedGen: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:C2673677 | 2 | 179599473 | 179599473 | | | 2:g.179599473C>G | ClinGen:CA138719 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) | 7273 | TTN | Benign/Likely benign | 72648927 | RCV000039865|RCV000245664|RCV000279816|RCV000311934|RCV000337760|RCV000350497|RCV000462142|RCV000769083|RCV000852914|RCV000986944|RCV001528445|RCV002490552; | N | MedGen: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:C1863 | 2 | 179599667 | 179599667 | | | 2:g.179599667G>C | ClinGen:CA282678 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.14973T>C (p.Tyr4991=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 761666344 | RCV000270838|RCV000308711|RCV000315276|RCV000363107|RCV000365791|RCV000466438|RCV003430844; | N | 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,OMIM:608807,Orph | 2 | 179599678 | 179599678 | | | 2:g.179599678A>G | ClinGen:CA2002308 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.14873A>G (p.Tyr4958Cys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 530572005 | RCV000643013|RCV001129113|RCV001129110|RCV001129111|RCV001129112|RCV001131798|RCV000713972; | N | 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, Orphanet:178464,Orp | 2 | 179600300 | 179600300 | | | 2:g.179600300T>C | ClinGen:CA2002333 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.14860G>C (p.Asp4954His) | 7273 | TTN | Uncertain significance | 1443901302 | RCV001131805|RCV001131804|RCV001132783|RCV001132782|RCV001132784; | N | 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, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179600313 | 179600313 | | | 2:g.179600313C>G | - | | |
NM_001267550.2(TTN):c.14610C>T (p.Ser4870=) | 7273 | TTN | Benign | 2742348 | RCV000039860|RCV000245943|RCV000266820|RCV000306880|RCV000302107|RCV000345343|RCV000397599|RCV000993388|RCV001523693; | N | MedGen: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:C1863599 | 2 | 179600563 | 179600563 | | | | ClinGen:CA282673 | | |
NM_001267550.2(TTN):c.14533G>A (p.Asp4845Asn) | 7273 | TTN | Conflicting interpretations of pathogenicity | 373378672 | RCV000039858|RCV000534664|RCV000724172|RCV001132890|RCV001132891|RCV001136315|RCV001136316|RCV001136317; | N | MedGen: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:C1863599 | 2 | 179600640 | 179600640 | | | 2:g.179600640C>T | ClinGen:CA138675 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys) | 7273 | TTN | Benign/Likely benign | 2742347 | RCV000039856|RCV000251788|RCV000260740|RCV000273429|RCV000305415|RCV000318332|RCV000353182|RCV000993387|RCV001511352; | N | 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:0011400,MedGen:C1858 | 2 | 179600648 | 179600648 | | | 2:g.179600648C>T | ClinGen:CA282661 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.14428A>C (p.Lys4810Gln) | 7273 | TTN | Conflicting interpretations of pathogenicity | 367630668 | RCV001129333|RCV001129332|RCV001129334|RCV001132034|RCV001132035|RCV001759891; | N | 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, Orphanet:609|MON | 2 | 179600745 | 179600745 | | | 2:g.179600745T>G | - | | |
NM_001267550.2(TTN):c.14392C>T (p.Leu4798Phe) | 7273 | TTN | Uncertain significance | 2081388048 | RCV001132037|RCV001132039|RCV001132038|RCV001132040|RCV001132036; | N | 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, Orphanet:140922|MON | 2 | 179600781 | 179600781 | | | 2:g.179600781G>A | - | | |
NM_001267550.2(TTN):c.14213G>A (p.Arg4738Gln) | 7273 | TTN | Uncertain significance | 553541436 | RCV000289994|RCV000295899|RCV000330804|RCV000343829|RCV000381984|RCV000622189|RCV003137957; | N | 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,OMIM:611705,Orph | 2 | 179602967 | 179602967 | | | 2:g.179602967C>T | ClinGen:CA2002448 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.14153A>G (p.Lys4718Arg) | 7273 | TTN | Uncertain significance | 753558755 | RCV001136417|RCV001136416|RCV001136413|RCV001136414|RCV001136415; | N | 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, Orphanet:140922|MON | 2 | 179603027 | 179603027 | | | 2:g.179603027T>C | - | | |
NM_001267550.2(TTN):c.13689C>T (p.Asp4563=) | 7273 | TTN | Benign/Likely benign | 369466156 | RCV000620520|RCV000868265|RCV000614198|RCV001840693|RCV001840694|RCV001840695|RCV001840696|RCV001697356; | N | MedGen: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:C1837342 | 2 | 179604271 | 179604271 | | | 2:g.179604271G>A | ClinGen:CA2002542 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.13202G>A (p.Arg4401Gln) | 7273 | TTN | Benign/Likely benign | 200431386 | RCV000041104|RCV000246916|RCV000469656|RCV001719779|RCV001839828|RCV001839829|RCV001839830|RCV001839831; | N | MedGen: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:0012127 | 2 | 179604758 | 179604758 | | | 2:g.179604758C>T | ClinGen:CA142012,UniProtKB:Q8WZ42#VAR_026691 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.12955G>A (p.Ala4319Thr) | 7273 | TTN | Benign/Likely benign | 150137596 | RCV000840184|RCV001087009|RCV001288102|RCV001840741|RCV001840742|RCV001840743|RCV001840744; | N | MedGen: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:C1837342 | 2 | 179605005 | 179605005 | | | 2:g.179605005C>T | - | | |
NM_001267550.2(TTN):c.12614T>C (p.Leu4205Ser) | 7273 | TTN | Uncertain significance | 1057518931 | RCV000414889|RCV001198382; | N | Human Phenotype Ontology:HP:0011663,MedGen:C2063326|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609 | 2 | 179605346 | 179605346 | | | 2:g.179605346A>G | ClinGen:CA16043383 | C2063326 Right ventricular cardiomyopathy; | |
NM_001267550.2(TTN):c.12519_12520del (p.Glu4173fs) | 7273 | TTN | Uncertain significance | 1553939605 | RCV000642816|RCV001535773; | N | 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, Orphanet:609; MON | 2 | 179605440 | 179605441 | | | NC_000002.11:g.179605440TC[1] | ClinGen:CA658796093 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.12255T>C (p.Ile4085=) | 7273 | TTN | Benign | 2742357 | RCV000041093|RCV000620728|RCV001511356|RCV001839800|RCV001839801|RCV001839802|RCV001839803; | N | MedGen: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:C1837342 | 2 | 179605705 | 179605705 | | | | ClinGen:CA284541 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.12235A>G (p.Ile4079Val) | 7273 | TTN | Benign | 34070843 | RCV000041092|RCV000226559|RCV000618930|RCV000993385|RCV001839796|RCV001839798|RCV001839797|RCV001839799; | N | MedGen: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:0011362 | 2 | 179605725 | 179605725 | | | 2:g.179605725T>C | ClinGen:CA284536 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 186624523 | RCV000154999|RCV000619410|RCV000713965|RCV000769092|RCV001328736; | N | MedGen: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:609 | 2 | 179606172 | 179606172 | | | 2:g.179606172C>T | ClinGen:CA181940 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.11422C>T (p.Pro3808Ser) | 7273 | TTN | Benign | 2627037 | RCV000041076|RCV000619046|RCV000993383|RCV001521506|RCV001839776|RCV001839777|RCV001839778|RCV001839779; | N | MedGen: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:0012127 | 2 | 179606538 | 179606538 | | | 2:g.179606538G>A | ClinGen:CA284506,UniProtKB:Q8WZ42#VAR_040125 | CN230736 Cardiovascular phenotype; | |
NM_133379.5(TTN):c.16001C>T (p.Pro5334Leu) | 7273 | TTN | Benign/Likely benign | 151253841 | RCV000041061|RCV000172707|RCV000284884|RCV000297525|RCV000347993|RCV000342254|RCV000397132|RCV000403965; | N | MedGen: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,O | 2 | 179611126 | 179611126 | | | 2:g.179611126G>A | ClinGen:CA141907 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_133379.5(TTN):c.14407G>A (p.Glu4803Lys) | 7273 | TTN | Uncertain significance | 2084167410 | RCV001197486; | N | MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609 | 2 | 179612720 | 179612720 | | | 2:g.179612720C>T | - | | |
NM_133379.5(TTN):c.13948C>T (p.Pro4650Ser) | 7273 | TTN | Conflicting interpretations of pathogenicity | 149748934 | RCV000041034|RCV000172712|RCV000578000; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609 | 2 | 179613179 | 179613179 | | | 2:g.179613179G>A | ClinGen:CA141850 | C1838244 600334 Distal myopathy Markesbery-Griggs type; | |
NM_133379.5(TTN):c.13364A>G (p.Lys4455Arg) | 7273 | TTN | Conflicting interpretations of pathogenicity | 142304137 | RCV000041022|RCV000415195|RCV000726846|RCV001198289; | N | MedGen: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:609 | 2 | 179613763 | 179613763 | | | 2:g.179613763T>C | ClinGen:CA141835 | C0007194 Hypertrophic cardiomyopathy; | |
NM_133379.5(TTN):c.11899T>C (p.Phe3967Leu) | 7273 | TTN | Uncertain significance | 182640468 | RCV000577984|RCV000577948|RCV000578063; | N | 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 | 2 | 179615228 | 179615228 | | | NC_000002.11:g.179615228A>G | ClinGen:CA60989923 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_133379.5(TTN):c.11056T>C (p.Trp3686Arg) | 7273 | TTN | Uncertain significance | 184027783 | RCV000577987|RCV000578068|RCV000578100; | N | 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 | 2 | 179616071 | 179616071 | | | NC_000002.11:g.179616071A>G | ClinGen:CA60991049 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.11255-17_11255-16del | 7273 | TTN | Benign/Likely benign | 72647895 | RCV000184122|RCV001840290|RCV001840292|RCV001840293|RCV001840291|RCV002478631|RCV002516943; | N | MedGen: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:C18373 | 2 | 179617923 | 179617924 | | | 2:g.179617923_179617924del | ClinGen:CA308985 | CN169374 not specified; | |
NM_001267550.2(TTN):c.10931G>A (p.Ser3644Asn) | 7273 | TTN | Benign/Likely benign | 78535378 | RCV000126052|RCV000154636|RCV001080034|RCV001840016|RCV001840017|RCV001840018|RCV001840019; | N | MedGen: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:C1837342 | 2 | 179621272 | 179621272 | | | 2:g.179621272C>T | ClinGen:CA232533 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.10854A>C (p.Gln3618His) | 7273 | TTN | Benign | 79466278 | RCV000041117|RCV000232467|RCV001839868|RCV001839869|RCV001839870|RCV001839871|RCV003326340; | N | 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:C1837342,OMIM:608807,Orp | 2 | 179621349 | 179621349 | | | 2:g.179621349T>G | ClinGen:CA142032 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.10850C>T (p.Ser3617Phe) | 7273 | TTN | Benign | 57389274 | RCV000041116|RCV000471094|RCV001528720|RCV001839864|RCV001839866|RCV001839867|RCV001839865; | N | MedGen: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:C1863599 | 2 | 179621353 | 179621353 | | | 2:g.179621353G>A | ClinGen:CA284591 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.10700G>A (p.Ser3567Asn) | 7273 | TTN | Benign | 72955213 | RCV000041115|RCV000227153|RCV001530063|RCV001839860|RCV001839861|RCV001839862|RCV001839863; | N | MedGen: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:C1837342 | 2 | 179621503 | 179621503 | | | 2:g.179621503C>T | ClinGen:CA284587 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.10378C>G (p.Pro3460Ala) | 7273 | TTN | Conflicting interpretations of pathogenicity | 201735487 | RCV000152474|RCV000468123|RCV001840111|RCV001840112|RCV001840114|RCV001840113; | N | 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:C1837342,OMIM:608807,Orp | 2 | 179622569 | 179622569 | | | 2:g.179622569G>C | ClinGen:CA179177 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.10256G>A (p.Ser3419Asn) | 7273 | TTN | Benign | 2291310 | RCV000039852|RCV000251067|RCV000275658|RCV000301488|RCV000333056|RCV000367878|RCV000400937|RCV000993375|RCV001523697; | N | MedGen: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:00114 | 2 | 179623758 | 179623758 | | | 2:g.179623758C>T | ClinGen:CA282654,UniProtKB:Q8WZ42#VAR_056083 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.10255A>G (p.Ser3419Gly) | 7273 | TTN | Uncertain significance | 1266502582 | RCV001132157|RCV001132158|RCV001132159|RCV001132160|RCV001132161; | N | 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,OMIM:611705,Orph | 2 | 179623759 | 179623759 | | | 2:g.179623759T>C | - | | |
NM_001267550.2(TTN):c.10191C>A (p.Asp3397Glu) | 7273 | TTN | Conflicting interpretations of pathogenicity | 773862320 | RCV000269589|RCV000282834|RCV000321505|RCV000327007|RCV000371165; | N | 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, Orphanet:154|MON | 2 | 179623823 | 179623823 | | | 2:g.179623823G>T | ClinGen:CA2004154 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.10188A>G (p.Glu3396=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 183336802 | RCV000039850|RCV000585488|RCV001081342|RCV001133087|RCV001136534|RCV001136536|RCV001136533|RCV001136535|RCV001798128|RCV002399384; | N | MedGen: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:C1863599 | 2 | 179623826 | 179623826 | | | 2:g.179623826T>C | ClinGen:CA282640 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.10164G>T (p.Arg3388=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 542799064 | RCV000280645|RCV000286304|RCV000334518|RCV000378395|RCV000406132|RCV002057626; | N | 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, Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179623850 | 179623850 | | | 2:g.179623850C>A | ClinGen:CA2004158 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.10115-4G>A | 7273 | TTN | Conflicting interpretations of pathogenicity | 367648529 | RCV000578101|RCV000577970|RCV000578025|RCV000591543|RCV000619673|RCV000726929|RCV001083169; | N | 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|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202|MONDO:MONDO:0011400 | 2 | 179623903 | 179623903 | | | 2:g.179623903C>T | ClinGen:CA2004166 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.10115-6T>C | 7273 | TTN | Uncertain significance | 886055298 | RCV000262023|RCV000317328|RCV000330237|RCV000356896|RCV000371938; | N | 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, Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179623905 | 179623905 | | | 2:g.179623905A>G | ClinGen:CA10613354 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln) | 7273 | TTN | Benign/Likely benign | 34819099 | RCV000039848|RCV000205174|RCV000249819|RCV001134670|RCV001134672|RCV001134671|RCV001134673|RCV001134669|RCV001528575; | N | MedGen: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:C2673677 | 2 | 179628918 | 179628918 | | | 2:g.179628918C>T | ClinGen:CA282632,UniProtKB:Q8WZ42#VAR_040123 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.10000G>A (p.Val3334Met) | 7273 | TTN | Uncertain significance | 886055299 | RCV000288606|RCV000313400|RCV000343603|RCV000349690|RCV000397542; | N | 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:C2673677,OMIM:611705,O | 2 | 179629018 | 179629018 | | | 2:g.179629018C>T | ClinGen:CA10611714 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.9879A>G (p.Glu3293=) | 7273 | TTN | Benign | 4894043 | RCV000040976|RCV000248023|RCV000259982|RCV000265831|RCV000305792|RCV000354969|RCV000360490|RCV000993520|RCV001523698; | N | MedGen: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:C1863599 | 2 | 179629363 | 179629363 | | | 2:g.179629363T>C | ClinGen:CA284380 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.9703+17T>A | 7273 | TTN | Benign/Likely benign | 377693857 | RCV000184121|RCV001529079|RCV001840288|RCV001840286|RCV001840287|RCV001840289|RCV002056965; | N | MedGen: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:00127 | 2 | 179631091 | 179631091 | | | 2:g.179631091A>T | ClinGen:CA308984 | CN169374 not specified; | |
NM_001267550.2(TTN):c.9597A>G (p.Glu3199=) | 7273 | TTN | Benign | 2291312 | RCV000040930|RCV000250698|RCV000293205|RCV000298130|RCV000351441|RCV000387371|RCV000403895|RCV000993512|RCV001521507; | N | MedGen: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, | 2 | 179631214 | 179631214 | | | 2:g.179631214T>C | ClinGen:CA284269 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.9512A>G (p.Asn3171Ser) | 7273 | TTN | Conflicting interpretations of pathogenicity | 139992576 | RCV000251789|RCV000727950|RCV000541705|RCV001133400|RCV001133396|RCV001133397|RCV001133398|RCV001133399|RCV003417863; | N | 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:0012714,MedGen:C2673677 | 2 | 179631299 | 179631299 | | | 2:g.179631299T>C | ClinGen:CA2004300 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.9461A>G (p.Lys3154Arg) | 7273 | TTN | Benign/Likely benign | 4893853 | RCV000040917|RCV000242068|RCV000270661|RCV000325661|RCV000331451|RCV000389547|RCV000364714|RCV000714123|RCV001521508; | N | MedGen: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, | 2 | 179632496 | 179632496 | | | 2:g.179632496T>C | ClinGen:CA284252,UniProtKB:Q8WZ42#VAR_040118 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.9348C>G (p.Ile3116Met) | 7273 | TTN | Conflicting interpretations of pathogenicity | 760230943 | RCV000283233|RCV000307509|RCV000347546|RCV000362254|RCV000402676|RCV000756845|RCV002446594; | N | 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:C1858763,OMIM:604145,O | 2 | 179632609 | 179632609 | | | 2:g.179632609G>C | ClinGen:CA2004349 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.9116C>A (p.Thr3039Asn) | 7273 | TTN | Uncertain significance | 774523194 | RCV001129974|RCV001129973|RCV001129970|RCV001129971|RCV001129972|RCV001171060; | N | 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, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179633447 | 179633447 | | | 2:g.179633447G>T | - | | |
NM_001267550.2(TTN):c.8991C>A (p.Ile2997=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 757524187 | RCV001130679|RCV001130680|RCV001130681|RCV001133638|RCV001133639|RCV002070523|RCV002375032; | N | 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,OMIM:608807,Orph | 2 | 179633572 | 179633572 | | | 2:g.179633572G>T | - | | |
NM_001267550.2(TTN):c.8902+14_8902+16delinsA | 7273 | TTN | Benign | 786200994 | RCV000154094|RCV001840130|RCV001840127|RCV001840128|RCV001840129; | N | 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:C1863599,OMIM:603689, | 2 | 179634390 | 179634392 | | | 2:g.179634391_179634392del | ClinGen:CA180468 | CN169374 not specified; | |
NM_001267550.2(TTN):c.8902+14del | 7273 | TTN | Benign | 573000455 | RCV000599999|RCV001528466|RCV001840717|RCV001840718|RCV001840719|RCV001840720|RCV002060624|RCV002491300; | N | MedGen: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:00127 | 2 | 179634392 | 179634392 | | | 2:g.179634392_179634392del | ClinGen:CA2004503 | CN169374 not specified; | |
NM_001267550.2(TTN):c.8894C>A (p.Thr2965Lys) | 7273 | TTN | Uncertain significance | 1221486073 | RCV001198835; | N | MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609 | 2 | 179634414 | 179634414 | | | 2:g.179634414G>T | - | | |
NM_001267550.2(TTN):c.8887A>C (p.Thr2963Pro) | 7273 | TTN | Benign | 200875815 | RCV000172804|RCV001840008|RCV001840009|RCV001840010|RCV001840011; | N | MedGen: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:C26736 | 2 | 179634421 | 179634421 | | | 2:g.179634421T>G | ClinGen:CA302641,UniProtKB:Q8WZ42#VAR_074293 | CN169374 not specified; | |
NM_001267550.2(TTN):c.8589A>G (p.Glu2863=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 72647883 | RCV000152489|RCV000464622|RCV001130104|RCV001130105|RCV001130106|RCV001130107|RCV001130108|RCV001170099|RCV001531512|RCV002408676; | N | MedGen: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,Orp | 2 | 179634839 | 179634839 | | | 2:g.179634839T>C | ClinGen:CA179245 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.8290C>G (p.Leu2764Val) | 7273 | TTN | Uncertain significance | -1 | RCV003147998|RCV003147999|RCV003147995|RCV003147997|RCV003148000|RCV003147996; | N | MONDO: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|M | 2 | 179635229 | 179635229 | | | | - | | |
NM_001267550.2(TTN):c.8116+19G>A | 7273 | TTN | Benign | 13011633 | RCV000126030|RCV001573870|RCV001840004|RCV001840006|RCV002055619|RCV001840005|RCV001840007; | N | MedGen: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:00114 | 2 | 179635919 | 179635919 | | | 2:g.179635919C>T | ClinGen:CA291512 | CN169374 not specified; | |
NM_001267550.2(TTN):c.7891G>A (p.Val2631Ile) | 7273 | TTN | Conflicting interpretations of pathogenicity | 766753906 | RCV000301851|RCV000338450|RCV000341719|RCV000396832|RCV000405608|RCV001582975; | N | 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, Orphanet:178464,Orp | 2 | 179636163 | 179636163 | | | 2:g.179636163C>T | ClinGen:CA2004717 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.7781T>C (p.Met2594Thr) | 7273 | TTN | Uncertain significance | 764016233 | RCV000281895|RCV000330923|RCV000334571|RCV000373922|RCV000388918; | N | 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, Orphanet:140922|MON | 2 | 179637910 | 179637910 | | | 2:g.179637910A>G | ClinGen:CA2004755 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.7705G>A (p.Asp2569Asn) | 7273 | TTN | Uncertain significance | 2091797961 | RCV001135417|RCV001135413|RCV001135415|RCV001135414|RCV001135416; | N | 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, Orphanet:609|MON | 2 | 179637986 | 179637986 | | | 2:g.179637986C>T | - | | |
NM_001267550.2(TTN):c.7619G>A (p.Arg2540His) | 7273 | TTN | Conflicting interpretations of pathogenicity | 397517725 | RCV000040700|RCV000172460|RCV000242133|RCV000287099|RCV000309186|RCV000339655|RCV000347654|RCV000403204|RCV000463035; | N | MedGen: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:0012127 | 2 | 179638072 | 179638072 | | | 2:g.179638072C>T | ClinGen:CA140973 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.7524T>C (p.His2508=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 2291307 | RCV000726199|RCV001131075|RCV001131076|RCV001131078|RCV001130366|RCV001131077|RCV001437139|RCV002379145|RCV002222478; | N | 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:C1863599,OMIM:603689,Orp | 2 | 179638259 | 179638259 | | | 2:g.179638259A>G | ClinGen:CA2004797 | CN169374 not specified; | |
NM_001267550.2(TTN):c.7408G>A (p.Val2470Ile) | 7273 | TTN | Uncertain significance | 1228257559 | RCV001134035|RCV001134037|RCV001134034|RCV001134036|RCV001134038; | N | 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:C2673677,OMIM:611705, Orphanet:289377|MON | 2 | 179638375 | 179638375 | | | 2:g.179638375C>T | - | | |
NM_001267550.2(TTN):c.7403T>C (p.Val2468Ala) | 7273 | TTN | Uncertain significance | 886055300 | RCV000262705|RCV000320196|RCV000322639|RCV000353908|RCV000379536; | N | 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, Orphanet:178464,Orp | 2 | 179638380 | 179638380 | | | 2:g.179638380A>G | ClinGen:CA10613356 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.7368G>C (p.Val2456=) | 7273 | TTN | Uncertain significance | 886055301 | RCV000282788|RCV000291912|RCV000344498|RCV000383137|RCV000405850; | N | 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, Orphanet:609|MON | 2 | 179638415 | 179638415 | | | 2:g.179638415C>G | ClinGen:CA10612098 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser) | 7273 | TTN | Benign/Likely benign | 4894048 | RCV000040647|RCV000250391|RCV000295307|RCV000312895|RCV000355835|RCV000352535|RCV000394645|RCV000714086|RCV001521510; | N | MedGen: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:C2673677 | 2 | 179638721 | 179638721 | | | 2:g.179638721C>T | ClinGen:CA283833,UniProtKB:Q8WZ42#VAR_040111 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.7156G>A (p.Gly2386Ser) | 7273 | TTN | Conflicting interpretations of pathogenicity | 777101912 | RCV000267865|RCV000271336|RCV000297530|RCV000320627|RCV000358996|RCV000354761|RCV000413035|RCV001494675; | N | MedGen: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:00016 | 2 | 179638739 | 179638739 | | | 2:g.179638739C>T | ClinGen:CA2004888 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.7023C>T (p.Asp2341=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 761409144 | RCV000540735|RCV000608115|RCV001840670|RCV001840667|RCV001840669|RCV001798887|RCV001840668|RCV002367863|RCV003139823; | N | MONDO: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, | 2 | 179638968 | 179638968 | | | NC_000002.11:g.179638968G>A | ClinGen:CA2004919 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.6790+12C>T | 7273 | TTN | Conflicting interpretations of pathogenicity | 200187117 | RCV000152498|RCV000304236|RCV000334636|RCV000349481|RCV000405722|RCV000406832|RCV001705913|RCV002055618; | N | MedGen: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:C18587 | 2 | 179639636 | 179639636 | | | 2:g.179639636G>A | ClinGen:CA295558 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.6768G>A (p.Thr2256=) | 7273 | TTN | Uncertain significance | 886055302 | RCV000272767|RCV000303571|RCV000361742|RCV000365228|RCV000406022; | N | 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, Orphanet:140922|MON | 2 | 179639670 | 179639670 | | | 2:g.179639670C>T | ClinGen:CA10612101 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.6584A>G (p.Glu2195Gly) | 7273 | TTN | Conflicting interpretations of pathogenicity | 202032875 | RCV000172468|RCV000279091|RCV000282750|RCV000336583|RCV000375953|RCV000379439|RCV000540799|RCV002362888; | N | 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:0011400,MedGen:C18587 | 2 | 179639854 | 179639854 | | | 2:g.179639854T>C | ClinGen:CA238259 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs) | 7273 | TTN | Conflicting interpretations of pathogenicity | 587780494 | RCV000118780|RCV000621565|RCV000725865|RCV000795260|RCV003389238; | N | MONDO: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:C1858763 | 2 | 179639882 | 179639883 | | | NC_000002.11:g.179639882_179639883insTGTCTGTTTCCTTACA | ClinGen:CA269798 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.6508+15T>C | 7273 | TTN | Conflicting interpretations of pathogenicity | 747722195 | RCV000220978|RCV000319679|RCV000354918|RCV000374363|RCV000260057|RCV000277654|RCV001596992|RCV002057158; | N | MedGen: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:C18373 | 2 | 179640068 | 179640068 | | | 2:g.179640068A>G | ClinGen:CA2005029 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.6491C>T (p.Ala2164Val) | 7273 | TTN | Uncertain significance | 1338410239 | RCV001128774|RCV001135773|RCV001135770|RCV001135771|RCV001135772; | N | 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, Orphanet:609|MON | 2 | 179640100 | 179640100 | | | 2:g.179640100G>A | - | | |
NM_001267550.2(TTN):c.6359G>T (p.Arg2120Leu) | 7273 | TTN | Conflicting interpretations of pathogenicity | 141142920 | RCV000185179|RCV000872240|RCV001128775|RCV001128776|RCV001128777|RCV001128778|RCV001128779|RCV001528299|RCV002362972; | N | 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:C1863599,OMIM:603689,Orp | 2 | 179640232 | 179640232 | | | 2:g.179640232C>A | ClinGen:CA311424 | CN169374 not specified; | |
NM_001267550.2(TTN):c.6322G>A (p.Glu2108Lys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 762999586 | RCV001134410|RCV001134412|RCV001134408|RCV001134411|RCV001134409|RCV003142069; | N | 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, Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179640269 | 179640269 | | | 2:g.179640269C>T | - | | |
NM_001267550.2(TTN):c.6303C>T (p.Val2101=) | 7273 | TTN | Benign/Likely benign | 937168906 | RCV000931658|RCV001470659|RCV001840774|RCV001840775|RCV001840776|RCV001840777; | N | 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:C1837342,OMIM:608807,Orp | 2 | 179640288 | 179640288 | | | 2:g.179640288G>A | - | | |
NM_001267550.2(TTN):c.6151A>G (p.Lys2051Glu) | 7273 | TTN | Uncertain significance | 1393006247 | RCV001134414|RCV001134413|RCV001134415|RCV001135881|RCV001135882; | N | 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,OMIM:608807,Orph | 2 | 179640440 | 179640440 | | | 2:g.179640440T>C | - | | |
NM_001267550.2(TTN):c.5851G>A (p.Val1951Ile) | 7273 | TTN | Uncertain significance | 765382880 | RCV000185175|RCV001128875|RCV001128876|RCV001128877|RCV001128878|RCV001135888; | N | MedGen: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:C18587 | 2 | 179640740 | 179640740 | | | 2:g.179640740C>T | ClinGen:CA311404 | CN169374 not specified; | |
NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 146496197 | RCV000040480|RCV000172727|RCV000264307|RCV000299606|RCV000298490|RCV000358988|RCV000393329|RCV000852934|RCV001083255|RCV001798172|RCV002345308; | N | MedGen: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:C1837342 | 2 | 179640923 | 179640923 | | | 2:g.179640923G>A | ClinGen:CA140341 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser) | 7273 | TTN | Conflicting interpretations of pathogenicity | 141213991 | RCV000040454|RCV000172728|RCV000329243|RCV000617741|RCV000852935|RCV001086722|RCV001798169|RCV003329159; | N | MedGen: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 Onto | 2 | 179641112 | 179641112 | | | 2:g.179641112C>A | ClinGen:CA140248 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.5314A>G (p.Ser1772Gly) | 7273 | TTN | Conflicting interpretations of pathogenicity | 150725992 | RCV000040436|RCV000545067|RCV001128998|RCV001128997|RCV001135973|RCV001135975|RCV001135974|RCV001719774|RCV003335072; | N | MedGen: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, | 2 | 179641277 | 179641277 | | | 2:g.179641277T>C | ClinGen:CA140193,UniProtKB:Q8WZ42#VAR_040104 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.5176C>A (p.Leu1726Ile) | 7273 | TTN | Uncertain significance | 2092262370 | RCV001131678|RCV001131679|RCV001132697|RCV001131676|RCV001131677; | N | 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:C1837342,OMIM:608807,O | 2 | 179641415 | 179641415 | | | 2:g.179641415G>T | - | | |
NM_001267550.2(TTN):c.5073A>T (p.Glu1691Asp) | 7273 | TTN | Conflicting interpretations of pathogenicity | 770902874 | RCV000273247|RCV000274321|RCV000328235|RCV000334036|RCV000363172|RCV000730583; | N | 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, Orphanet:178464, | 2 | 179641518 | 179641518 | | | 2:g.179641518T>A | ClinGen:CA2005224 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.5047C>T (p.Arg1683Ter) | 7273 | TTN | Conflicting interpretations of pathogenicity | 587780490 | RCV000118769|RCV001053412|RCV002336259|RCV002464117; | N | 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|MedGen:CN230736|MedGen:CN517202 | 2 | 179641544 | 179641544 | | | 2:g.179641544G>A | ClinGen:CA269792 | C1838244 600334 Distal myopathy Markesbery-Griggs type; | |
NM_001267550.2(TTN):c.4998A>T (p.Thr1666=) | 7273 | TTN | Benign/Likely benign | 139054950 | RCV000126019|RCV001465244|RCV001812062|RCV001840000|RCV001840001|RCV001840002|RCV001840003|RCV002336276; | N | MedGen: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:C1837342 | 2 | 179641593 | 179641593 | | | 2:g.179641593T>A | ClinGen:CA291502 | CN169374 not specified; | |
NM_001267550.2(TTN):c.4995G>A (p.Gly1665=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 755324231 | RCV001129115|RCV001129114|RCV001129116|RCV001129117|RCV001129118|RCV002070504|RCV002339412; | N | 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,OMIM:608807,Orph | 2 | 179641596 | 179641596 | | | 2:g.179641596C>T | - | | |
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met) | 7273 | TTN | Benign/Likely benign | 73973147 | RCV000040370|RCV000224879|RCV000242883|RCV000275690|RCV000298585|RCV000311388|RCV000353429|RCV000370741|RCV000769125|RCV001084458; | N | MedGen: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|M | 2 | 179641951 | 179641951 | | | 2:g.179641951G>A | ClinGen:CA283453 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.4668G>A (p.Pro1556=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 145709534 | RCV000289346|RCV000290369|RCV000350269|RCV000384922|RCV000391245|RCV000424425|RCV000547699|RCV002338926; | N | 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, Orphanet:140922|MON | 2 | 179642022 | 179642022 | | | 2:g.179642022C>T | ClinGen:CA2005281 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.4645+8G>T | 7273 | TTN | Benign/Likely benign | 144456585 | RCV000176695|RCV000550606|RCV001726021|RCV001840250|RCV001840251|RCV001840252|RCV001840253; | N | MedGen: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:C1837342 | 2 | 179642139 | 179642139 | | | 2:g.179642139C>A | ClinGen:CA202072 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.4506C>T (p.Thr1502=) | 7273 | TTN | Uncertain significance | 185660585 | RCV001129226|RCV001129227|RCV001129228|RCV001136187|RCV001136188; | N | 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,OMIM:608807,Orph | 2 | 179642286 | 179642286 | | | 2:g.179642286G>A | - | | |
NM_001267550.2(TTN):c.4480+6C>T | 7273 | TTN | Benign | 719201 | RCV000040333|RCV000266351|RCV000272158|RCV000303750|RCV000358588|RCV000382980|RCV000993441|RCV001523701; | N | MedGen: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:C18587 | 2 | 179642425 | 179642425 | | | 2:g.179642425G>A | ClinGen:CA283407 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.4322G>A (p.Arg1441His) | 7273 | TTN | Conflicting interpretations of pathogenicity | 72647876 | RCV000272567|RCV000307752|RCV000330032|RCV000361649|RCV000364736|RCV000643285|RCV001844128; | N | 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, Orphanet:154|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,O | 2 | 179642589 | 179642589 | | | 2:g.179642589C>T | ClinGen:CA2005336 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.4319G>T (p.Gly1440Val) | 7273 | TTN | Uncertain significance | 150579194 | RCV000275768|RCV000279744|RCV000318457|RCV000333148|RCV000371427; | N | 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:C1863599,OMIM:603689, Orphanet:178464, | 2 | 179642592 | 179642592 | | | 2:g.179642592C>A | ClinGen:CA10612112 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.4292G>A (p.Arg1431Gln) | 7273 | TTN | Conflicting interpretations of pathogenicity | 373690688 | RCV001132046|RCV001132042|RCV001132043|RCV001132044|RCV001132045|RCV001697352|RCV002331040|RCV003150298; | N | 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:C1858763,OMIM:604145,O | 2 | 179642619 | 179642619 | | | 2:g.179642619C>T | ClinGen:CA2005343 | CN169374 not specified; | |
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys) | 7273 | TTN | Benign/Likely benign | 72647875 | RCV000040310|RCV000250985|RCV000283246|RCV000286630|RCV000343983|RCV000375318|RCV000406831|RCV000462109|RCV000769133|RCV001572720|RCV002496645; | N | MedGen: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:00121 | 2 | 179642665 | 179642665 | | | 2:g.179642665G>A | ClinGen:CA283365,UniProtKB:Q8WZ42#VAR_040096 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.4076A>G (p.Glu1359Gly) | 7273 | TTN | Conflicting interpretations of pathogenicity | 370978752 | RCV000172479|RCV000260058|RCV000263663|RCV000321201|RCV000317593|RCV000378238|RCV000412681|RCV000553812; | N | 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:C1858763,OMIM:604145, | 2 | 179643733 | 179643733 | | | 2:g.179643733T>C | ClinGen:CA302567 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.3993C>T (p.Ile1331=) | 7273 | TTN | Benign/Likely benign | 55757622 | RCV000040284|RCV000228245|RCV000293273|RCV000315323|RCV000350528|RCV000392203|RCV000403817|RCV000619405|RCV000769136|RCV001795024; | N | MedGen: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,Orp | 2 | 179643816 | 179643816 | | | 2:g.179643816G>A | ClinGen:CA283308 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.3988C>T (p.Arg1330Cys) | 7273 | TTN | Conflicting interpretations of pathogenicity | 771294359 | RCV000176503|RCV001198541; | N | MedGen:CN517202|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609 | 2 | 179643821 | 179643821 | | | 2:g.179643821G>A | ClinGen:CA242477 | CN169374 not specified; | |
NM_001267550.2(TTN):c.3884C>T (p.Ser1295Leu) | 7273 | TTN | Benign | 1552280 | RCV000040271|RCV000241712|RCV000264528|RCV000268224|RCV000303354|RCV000360628|RCV000357032|RCV000993431|RCV001523702; | N | MedGen: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:C1863 | 2 | 179644035 | 179644035 | | | 2:g.179644035G>A | ClinGen:CA283291,UniProtKB:Q8WZ42#VAR_040090 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.3759A>G (p.Arg1253=) | 7273 | TTN | Benign | 2291308 | RCV000040255|RCV000251064|RCV000272485|RCV000294657|RCV000325762|RCV000329924|RCV000382666|RCV001515293; | N | MedGen: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:C1863599 | 2 | 179644160 | 179644160 | | | 2:g.179644160T>C | ClinGen:CA283269 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.3668C>T (p.Ala1223Val) | 7273 | TTN | Benign/Likely benign | 78269740 | RCV000040248|RCV000253337|RCV000279208|RCV000301989|RCV000336642|RCV000371507|RCV000391746|RCV000468115|RCV000770152|RCV002227053; | N | 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:0011400,MedGen:C1858 | 2 | 179644788 | 179644788 | | | 2:g.179644788G>A | ClinGen:CA283251 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.3605T>C (p.Val1202Ala) | 7273 | TTN | Conflicting interpretations of pathogenicity | 150667217 | RCV000152511|RCV000172730|RCV000476516|RCV001133206|RCV001133208|RCV001133210|RCV001133207|RCV001133209|RCV001798487|RCV002460048; | N | MedGen: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:C1858763 | 2 | 179644851 | 179644851 | | | 2:g.179644851A>G | ClinGen:CA179349,UniProtKB:Q8WZ42#VAR_040089 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.3380+12G>T | 7273 | TTN | Conflicting interpretations of pathogenicity | 775071824 | RCV000281240|RCV000289971|RCV000319950|RCV000373414|RCV000376968|RCV001850794; | N | 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, Orphanet:609|MON | 2 | 179646927 | 179646927 | | | 2:g.179646927C>A | ClinGen:CA10612114 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.3242C>T (p.Ala1081Val) | 7273 | TTN | Conflicting interpretations of pathogenicity | 528216574 | RCV000286362|RCV000341244|RCV000356189|RCV000406964|RCV000406971|RCV003137958; | N | 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, Orphanet:140922|MON | 2 | 179647077 | 179647077 | | | 2:g.179647077G>A | ClinGen:CA2005593 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr) | 7273 | TTN | Conflicting interpretations of pathogenicity | 55914517 | RCV000040201|RCV000172732|RCV000253970|RCV001085560|RCV001129772|RCV001132484|RCV001132481|RCV001132483|RCV001132482|RCV001170662; | N | MedGen: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:0012714 | 2 | 179647078 | 179647078 | | | 2:g.179647078C>T | ClinGen:CA139551,UniProtKB:Q8WZ42#VAR_040086 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.3197A>T (p.Asp1066Val) | 7273 | TTN | Uncertain significance | 886055305 | RCV000297992|RCV000331834|RCV000367793|RCV000371134|RCV000406515|RCV002487476; | N | 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:C1837342,OMIM:608807,O | 2 | 179647122 | 179647122 | | | 2:g.179647122T>A | ClinGen:CA10611717 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.2775+1G>T | 7273 | TTN | Conflicting interpretations of pathogenicity | 1057346353 | RCV001787308|RCV001799128|RCV002541257; | N | 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, Orphanet:154; MONDO:MONDO:0012127,MedGen:C1837342,OMIM:60 | 2 | 179648796 | 179648796 | | | 179648796 | - | | |
NM_001267550.2(TTN):c.2522C>A (p.Thr841Lys) | 7273 | TTN | Uncertain significance | 750195208 | RCV001129976|RCV001129975|RCV001135015|RCV001135016|RCV001135017|RCV002482253; | N | 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, Orphanet:609|MON | 2 | 179649050 | 179649050 | | | 2:g.179649050G>T | - | | |
NM_001267550.2(TTN):c.2494-5T>C | 7273 | TTN | Conflicting interpretations of pathogenicity | 370759512 | RCV000542966|RCV000730921|RCV001130682|RCV001130683|RCV001130685|RCV001129982|RCV001130684; | N | MONDO: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, | 2 | 179649083 | 179649083 | | | NC_000002.11:g.179649083A>G | ClinGen:CA2005798 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.2432C>T (p.Thr811Ile) | 7273 | TTN | Benign/Likely benign | 35813871 | RCV000040075|RCV000250179|RCV000277774|RCV000293180|RCV000333096|RCV000372528|RCV000387563|RCV001511071; | N | MedGen: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:C1863599 | 2 | 179650408 | 179650408 | | | 2:g.179650408G>A | ClinGen:CA283019,UniProtKB:Q8WZ42#VAR_040083 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.2370+9A>G | 7273 | TTN | Conflicting interpretations of pathogenicity | 373443384 | RCV000301265|RCV000314577|RCV000354328|RCV000369290|RCV000405227|RCV001462549; | N | 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,OMIM:611705,Orph | 2 | 179650566 | 179650566 | | | 2:g.179650566T>C | ClinGen:CA2005845 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.2300G>A (p.Arg767Lys) | 7273 | TTN | Uncertain significance | -1 | RCV003388235; | N | MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334, Orphanet:609 | 2 | 179650645 | 179650645 | | | | - | | |
NM_001267550.2(TTN):c.2280C>T (p.Val760=) | 7273 | TTN | Benign/Likely benign | 727505021 | RCV000156445|RCV000473743|RCV000617670|RCV001840187|RCV001840189|RCV001840188|RCV001840190; | N | MedGen: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:C1863599 | 2 | 179650665 | 179650665 | | | 2:g.179650665G>A | ClinGen:CA295831 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.2244G>A (p.Glu748=) | 7273 | TTN | Benign | 6715406 | RCV000040044|RCV000243970|RCV000283289|RCV000286612|RCV000338218|RCV000377759|RCV000400193|RCV000993400|RCV001509737; | N | MedGen: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:00127 | 2 | 179650701 | 179650701 | | | 2:g.179650701C>T | ClinGen:CA282965 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.2226C>A (p.Ser742=) | 7273 | TTN | Benign/Likely benign | 151025677 | RCV000464357|RCV001510342|RCV001840551|RCV001840548|RCV001840550|RCV001840549|RCV002418299; | N | MedGen: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, | 2 | 179650719 | 179650719 | | | 2:g.179650719G>T | ClinGen:CA2005872 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.2151C>T (p.Pro717=) | 7273 | TTN | Benign/Likely benign | 374570732 | RCV000040025|RCV000473740|RCV001839555|RCV001839557|RCV001839556|RCV001839558|RCV002415480|RCV003149642; | N | 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:C1863599,OMIM:603689,Orp | 2 | 179650794 | 179650794 | | | 2:g.179650794G>A | ClinGen:CA282927 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.2138G>A (p.Arg713Gln) | 7273 | TTN | Uncertain significance | 761383124 | RCV000279844|RCV000334869|RCV000368679|RCV000407830|RCV000407832|RCV000621293|RCV003137959; | N | 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:C2673677,OMIM:611705, Orphanet:289377|MON | 2 | 179650807 | 179650807 | | | 2:g.179650807C>T | ClinGen:CA2005889 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.1696A>G (p.Met566Val) | 7273 | TTN | Uncertain significance | 987302368 | RCV001130960|RCV001130959|RCV001130958|RCV001133907|RCV001133908; | N | 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:C2673677,OMIM:611705,O | 2 | 179655539 | 179655539 | | | 2:g.179655539T>C | - | | |
NM_001267550.2(TTN):c.1683A>G (p.Ile561Met) | 7273 | TTN | Uncertain significance | 1321890564 | RCV001133914|RCV001135418|RCV001135419|RCV001135420|RCV001135421; | N | 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,OMIM:608807,Orph | 2 | 179655552 | 179655552 | | | 2:g.179655552T>C | - | | |
NM_001267550.2(TTN):c.1447G>A (p.Ala483Thr) | 7273 | TTN | Conflicting interpretations of pathogenicity | 34337578 | RCV000180698|RCV000300935|RCV000340586|RCV000353413|RCV000401699|RCV000406894|RCV000550205|RCV002390446; | N | 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:C2673677,OMIM:611705,Orp | 2 | 179658220 | 179658220 | | | 2:g.179658220C>T | ClinGen:CA248252 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.1446C>T (p.Ala482=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 183258737 | RCV001134043|RCV001134039|RCV001134040|RCV001134041|RCV001134042|RCV002070567|RCV001585998; | N | 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:C1858763,OMIM:604145,O | 2 | 179658221 | 179658221 | | | 2:g.179658221G>A | - | | |
NM_001267550.2(TTN):c.1398+18A>G | 7273 | TTN | Benign | 72647849 | RCV000125777|RCV001529535|RCV001839952|RCV001839953|RCV001839955|RCV002055605|RCV001839954; | N | MedGen: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:C1858 | 2 | 179659108 | 179659108 | | | 2:g.179659108T>C | ClinGen:CA291447 | CN169374 not specified; | |
NM_001267550.2(TTN):c.1398+16C>T | 7273 | TTN | Benign | 144043280 | RCV000125776|RCV001528473|RCV001839950|RCV001839951|RCV001839948|RCV002055604|RCV001839949; | N | MedGen: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:00114 | 2 | 179659110 | 179659110 | | | 2:g.179659110G>A | ClinGen:CA291446 | CN169374 not specified; | |
NM_001267550.2(TTN):c.1398+9G>A | 7273 | TTN | Conflicting interpretations of pathogenicity | 368350210 | RCV000274930|RCV000276283|RCV000315059|RCV000327668|RCV000367407|RCV000642977|RCV000610278; | N | 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,OMIM:608807,Orph | 2 | 179659117 | 179659117 | | | 2:g.179659117C>T | ClinGen:CA2006069 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.1398+4C>T | 7273 | TTN | Conflicting interpretations of pathogenicity | 368548209 | RCV000152529|RCV000279380|RCV000280402|RCV000337828|RCV000400060|RCV000408421|RCV000725255|RCV002390332|RCV003149933; | N | MedGen: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:C18587 | 2 | 179659122 | 179659122 | | | 2:g.179659122G>A | ClinGen:CA179423 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.1365G>A (p.Thr455=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 145211131 | RCV000039898|RCV000270976|RCV000311791|RCV000363227|RCV000368852|RCV000408385|RCV000867716|RCV002381319; | N | MedGen: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:C18587 | 2 | 179659159 | 179659159 | | | 2:g.179659159C>T | ClinGen:CA138805 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.1301A>T (p.Asp434Val) | 7273 | TTN | Uncertain significance | 1478114976 | RCV001131200|RCV001131201|RCV001134160|RCV001134162|RCV001134161; | N | 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, Orphanet:154|MON | 2 | 179659223 | 179659223 | | | 2:g.179659223T>A | - | | |
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile) | 7273 | TTN | Conflicting interpretations of pathogenicity | 146000949 | RCV000118737|RCV000227944|RCV000229796|RCV001134163|RCV001134164|RCV001134165|RCV001134166|RCV001134167|RCV002381429; | N | MedGen: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:C1863599 | 2 | 179659227 | 179659227 | | | 2:g.179659227C>T | ClinGen:CA289082 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.1246-16G>A | 7273 | TTN | Benign | 72647847 | RCV000125774|RCV001529224|RCV001839945|RCV001839947|RCV001839944|RCV002055603|RCV001839946; | N | MedGen: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:C1837 | 2 | 179659294 | 179659294 | | | 2:g.179659294C>T | ClinGen:CA291445 | CN169374 not specified; | |
NM_001267550.2(TTN):c.1066G>C (p.Glu356Gln) | 7273 | TTN | Conflicting interpretations of pathogenicity | 144531477 | RCV000184463|RCV000215227|RCV000307624|RCV000301950|RCV000347083|RCV000400273|RCV000392883|RCV000553458|RCV002408817; | N | MedGen: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:00121 | 2 | 179659828 | 179659828 | | | 2:g.179659828C>G | ClinGen:CA309658 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.1002C>T (p.Thr334=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 148094198 | RCV000152534|RCV000287830|RCV000332417|RCV000347502|RCV000382294|RCV000389385|RCV000713945|RCV001083824|RCV002390334; | N | MedGen: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,Orp | 2 | 179659892 | 179659892 | | | 2:g.179659892G>A | ClinGen:CA346116 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.982C>T (p.Arg328Cys) | 7273 | TTN | Benign/Likely benign | 16866538 | RCV000040972|RCV000241960|RCV000304117|RCV000335694|RCV000339148|RCV000383281|RCV000398548|RCV000993518|RCV001510253; | N | MedGen: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:00121 | 2 | 179659912 | 179659912 | | | 2:g.179659912G>A | ClinGen:CA284363,UniProtKB:Q8WZ42#VAR_026686 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.864C>T (p.His288=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 772543040 | RCV000827440|RCV001128782|RCV001408199|RCV001128783|RCV001128784|RCV001131433|RCV001131434|RCV003307570; | N | MedGen: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,Orp | 2 | 179664264 | 179664264 | | | 2:g.179664264G>A | - | | |
NM_001267550.2(TTN):c.851C>T (p.Ser284Leu) | 7273 | TTN | Uncertain significance | 775566677 | RCV000270839|RCV000272065|RCV000325860|RCV000322526|RCV000377182|RCV000598196; | N | 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:C1858763,OMIM:604145,O | 2 | 179664277 | 179664277 | | | 2:g.179664277G>A | ClinGen:CA2006214 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.732C>T (p.Ala244=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 761859812 | RCV000295315|RCV000725564|RCV001134420|RCV001134422|RCV001135889|RCV001506599|RCV001134419|RCV001134421|RCV002379130; | N | MedGen: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:00114 | 2 | 179664396 | 179664396 | | | 2:g.179664396G>A | ClinGen:CA2006233 | CN169374 not specified; | |
NM_001267550.2(TTN):c.583+4C>T | 7273 | TTN | Conflicting interpretations of pathogenicity | 764670848 | RCV000268668|RCV000313425|RCV000313077|RCV000363475|RCV000408298|RCV000643901|RCV000828353|RCV002356455; | N | 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:C1858763,OMIM:604145, Orphanet:154|MON | 2 | 179665118 | 179665118 | | | NC_000002.11:g.179665118G>A | ClinGen:CA2006298 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.426C>T (p.Ala142=) | 7273 | TTN | Benign/Likely benign | 56137037 | RCV000040314|RCV000234634|RCV000244934|RCV000282036|RCV000318413|RCV000317186|RCV000371811|RCV000386983|RCV000769146|RCV001528435; | N | MedGen: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:C1863599 | 2 | 179665279 | 179665279 | | | 2:g.179665279G>A | ClinGen:CA283372 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.416G>A (p.Arg139Gln) | 7273 | TTN | Conflicting interpretations of pathogenicity | 780003580 | RCV000185333|RCV001140708|RCV001140711|RCV001140709|RCV001140710|RCV001140712|RCV003137754|RCV003407680; | N | 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:0012127,MedGen:C1837342,OMIM:608807,Orp | 2 | 179665289 | 179665289 | | | 2:g.179665289C>T | ClinGen:CA311799 | CN169374 not specified; | |
NM_001267550.2(TTN):c.289G>A (p.Val97Met) | 7273 | TTN | Benign/Likely benign | 185921345 | RCV000155019|RCV000529339|RCV001840159|RCV001840160|RCV001840161|RCV001840162|RCV002433680; | N | 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:C1837342,OMIM:608807,Orp | 2 | 179666871 | 179666871 | | | 2:g.179666871C>T | ClinGen:CA182016 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.266C>G (p.Ala89Gly) | 7273 | TTN | Conflicting interpretations of pathogenicity | 200165636 | RCV000172495|RCV000578038|RCV000524658|RCV000577960|RCV000578069|RCV001142582|RCV001142583|RCV001281537|RCV002433758; | N | 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:0012127,MedGen:C1837342,OMIM:608807,Orp | 2 | 179666894 | 179666894 | | | 2:g.179666894G>C | ClinGen:CA302585 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr) | 7273 | TTN | Benign/Likely benign | 35683768 | RCV000039957|RCV000251100|RCV000259249|RCV000304063|RCV000319076|RCV000357917|RCV000391474|RCV000476175|RCV000993394; | N | MedGen: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:C1837342 | 2 | 179666982 | 179666982 | | | 2:g.179666982C>A | ClinGen:CA282808,UniProtKB:Q8WZ42#VAR_040078 | CN230736 Cardiovascular phenotype; | |
NM_001267550.2(TTN):c.72C>G (p.Thr24=) | 7273 | TTN | Conflicting interpretations of pathogenicity | 876657615 | RCV000223372|RCV000329742|RCV000355465|RCV000295394|RCV000326959|RCV000388983|RCV001413880|RCV002381738; | N | 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:0011362,MedGen:C1863599,OMIM:603689,Orp | 2 | 179669298 | 179669298 | | | 2:g.179669298G>C | ClinGen:CA10576584 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.43G>A (p.Val15Ile) | 7273 | TTN | Conflicting interpretations of pathogenicity | 201857541 | RCV000172733|RCV000218176|RCV000469634|RCV001140836|RCV001142683|RCV001142681|RCV001142682|RCV001140835|RCV001170882|RCV002326949; | N | MedGen: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:C2673677 | 2 | 179669327 | 179669327 | | | 2:g.179669327C>T | ClinGen:CA238531 | C1858763 604145 Dilated cardiomyopathy 1G; | |
NM_001267550.2(TTN):c.-76A>G | 7273 | TTN | Uncertain significance | 1575064539 | RCV001137941|RCV001137942|RCV001137940|RCV001138357|RCV001138358; | N | 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, Orphanet:154|MON | 2 | 179672001 | 179672001 | | | 2:g.179672001T>C | - | | |
NM_001267550.2(TTN):c.-108G>A | 7273 | TTN | Benign/Likely benign | 13422986 | RCV000268736|RCV000274292|RCV000334116|RCV000363387|RCV000382994|RCV001672567; | N | 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, Orphanet:609|MON | 2 | 179672033 | 179672033 | | | 2:g.179672033C>T | ClinGen:CA10611723 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.-118G>A | 7273 | TTN | Uncertain significance | 886055310 | RCV000265368|RCV000320503|RCV000335777|RCV000371730|RCV000379689; | N | 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, Orphanet:178464,Orp | 2 | 179672043 | 179672043 | | | 2:g.179672043C>T | ClinGen:CA10613405 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.-217G>A | 7273 | TTN | Uncertain significance | 886055311 | RCV000281953|RCV000312761|RCV000337026|RCV000401833|RCV000401395|RCV002487477; | N | 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,OMIM:611705,Orph | 2 | 179672142 | 179672142 | | | 2:g.179672142C>T | ClinGen:CA10611725 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_001267550.2(TTN):c.-225G>A | 7273 | TTN | Uncertain significance | 886055312 | RCV000271559|RCV000306758|RCV000310260|RCV000357842|RCV000363822; | N | 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,OMIM:608807,Orph | 2 | 179672150 | 179672150 | | | 2:g.179672150C>T | ClinGen:CA10611727 | CN239310 Dilated Cardiomyopathy, Dominant; | |