Variants
TTN variants
The 344 TTN variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A2770Hfs*4 | c.8307_8308del | Exon 35 | 178,770,483 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A27689Lfs*31 | c.83064_83073del | Exon 326 | 178,563,058 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A28497Hfs*11 | c.85486del | Exon 326 | 178,560,645 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A35338Rfs*5 | c.106009_106010del | Exon 358 | 178,530,604 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A35544Pfs*2 | c.106629del | Exon 360 | 178,529,121 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.669+2T>C | Intron 5 | 178,799,823 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.9163+1G>C | Intron 38 | 178,768,672 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.10303+2T>C | Intron 44 | 178,758,982 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.14093-1G>A | Intron 48 | 178,738,361 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.15496+1G>T | Intron 52 | 178,734,327 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.19426+2T>A | Intron 66 | 178,728,498 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.25063+1G>A | Intron 86 | 178,717,942 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.33826+1G>A | Intron 143 | 178,678,746 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.34612+1G>A | Intron 150 | 178,675,038 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.34709-1G>A | Intron 151 | 178,673,711 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.35227+1G>A | Intron 155 | 178,671,970 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.38876-2A>C | Intron 199 | 178,652,933 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.39295+1G>C | Intron 204 | 178,652,095 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.39974-11T>G | Intron 212 | 178,649,342 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.41609-2A>G | Intron 226 | 178,635,717 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.44281+1G>A | Intron 239 | 178,630,240 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.48160+1G>A | Intron 256 | 178,616,728 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.48638+1del | Intron 259 | 178,615,305 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.49648+2del | Intron 264 | 178,613,158 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.51739+1G>C | Intron 272 | 178,609,683 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.54190+1G>A | Intron 280 | 178,604,986 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.56051-1G>A | Intron 288 | 178,599,851 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.59926+1G>A | Intron 302 | 178,591,977 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.66160+2T>C | Intron 314 | 178,582,294 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.66161-1G>C | Intron 314 | 178,582,209 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.67348+1G>A | Intron 318 | 178,579,938 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.67349-2A>C | Intron 318 | 178,579,850 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.68329+2T>C | Intron 321 | 178,578,609 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.73110G>A | Exon 326 | 178,573,022 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.86821+2T>A | Intron 326 | 178,559,309 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.88306+1G>C | Intron 330 | 178,556,847 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.88895-1G>A | Intron 332 | 178,554,217 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.89197+2T>G | Intron 333 | 178,553,912 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.91564+2T>C | Intron 336 | 178,550,965 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.96904+1G>A | Intron 347 | 178,543,068 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.100766-1G>T | Intron 357 | 178,535,850 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.106531+1G>A | Intron 359 | 178,529,959 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.107198_107223+4del | Intron 360 | 178,528,523 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.107224-1G>C | Intron 360 | 178,528,428 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.107377+1G>A | Intron 361 | 178,528,273 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.107377+1G>C | Intron 361 | 178,528,273 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| C15412X | c.46236C>A | Exon 248 | 178,620,285 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C15714X | c.47142_47143del | Exon 252 | 178,618,314 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C15899X | c.47697C>A | Exon 254 | 178,617,388 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C16500X | c.49500C>A | Exon 263 | 178,613,783 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C31712R | c.95134T>C | Exon 343 | 178,546,102 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D16007Pfs*19 | c.48015_48016del | Exon 256 | 178,616,872 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D17153Efs*11 | c.51459_51462del | Exon 272 | 178,609,960 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D18681Rfs*9 | c.56040dup | Exon 288 | 178,600,863 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D20145Efs*19 | c.60433_60434dup | Exon 304 | 178,591,290 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D24224Ifs*8 | c.72669del | Exon 326 | 178,573,462 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D33700Lfs*13 | c.101098delinsCT | Exon 358 | 178,535,517 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D33700Vfs*13 | c.101098_101099insT | Exon 358 | 178,535,516 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E4484X | c.13450G>T | Exon 48 | 178,739,783 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E9203X | c.27607G>T | Exon 95 | 178,712,315 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E9874Gfs*28 | c.29621_29624del | Exon 104 | 178,704,946 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E11932X | c.35794G>T | Exon 162 | 178,667,239 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E13239X | c.39715G>T | Exon 210 | 178,650,266 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E16792Gfs*2 | c.50375_50378del | Exon 268 | 178,611,930 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E17217X | c.51649G>T | Exon 272 | 178,609,774 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E17311X | c.51931G>T | Exon 273 | 178,609,379 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E17867X | c.53599G>T | Exon 279 | 178,605,696 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E18038Rfs*47 | c.54112del | Exon 280 | 178,605,064 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E19735Dfs*24 | c.59205del | Exon 300 | 178,592,913 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E19993X | c.59977G>T | Exon 303 | 178,591,842 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E20751Gfs*3 | c.62251dup | Exon 304 | 178,589,473 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E20971Rfs*4 | c.62909dup | Exon 304 | 178,588,815 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E23339Rfs*8 | c.70015del | Exon 326 | 178,576,116 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E23501X | c.70501G>T | Exon 326 | 178,575,631 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E26060X | c.78178G>T | Exon 326 | 178,567,954 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E27315Nfs*35 | c.81942del | Exon 326 | 178,564,189 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E27547X | c.82639G>T | Exon 326 | 178,563,493 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E28338Hfs*9 | c.85008_85011del | Exon 326 | 178,561,120 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E29007Ifs*16 | c.87019_87022del | Exon 327 | 178,558,436 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E32351Rfs*6 | c.97050dup | Exon 348 | 178,542,803 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E34454Nfs*3 | c.103360del | Exon 358 | 178,533,254 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E35591Dfs*2 | c.106773_106780del | Exon 360 | 178,528,970 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E35927_W35930delinsVKEK | c.107780_107790delinsTGAAAGAAAAA | Exon 363 | 178,527,198 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F14516Ifs*8 | c.43544dup | Exon 236 | 178,632,349 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F24322X | c.72963_72964del | Exon 326 | 178,573,167 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F26982Vfs*2 | c.80943dup | Exon 326 | 178,565,188 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F32275X | c.96824_96831del | Exon 347 | 178,543,141 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G4007Efs*7 | c.12016_12019dup | Exon 48 | 178,741,213 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G17798Afs*18 | c.53393del | Exon 278 | 178,607,208 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G23141Afs*36 | c.69420del | Exon 325 | 178,576,823 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G23141Efs*38 | c.69421_69422insAAAAG | Exon 325 | 178,576,822 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G27553X | c.82657G>T | Exon 326 | 178,563,475 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G29239Dfs*32 | c.87716del | Exon 329 | 178,557,545 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G29763Afs*11 | c.89288del | Exon 334 | 178,553,716 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H15284Qfs*3 | c.45852_45853del | Exon 247 | 178,620,756 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I3064X | c.9189_9190del | Exon 39 | 178,768,128 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I5941Mfs*8 | c.17823del | Exon 61 | 178,730,709 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I20660Ffs*28 | c.61977del | Exon 304 | 178,589,747 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I21018Qfs*7 | c.63049_63050dup | Exon 304 | 178,588,674 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I31368Sfs*34 | c.94103_94107del | Exon 339 | 178,547,518 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |