Variants
TSC2 variants
Predicted effect: Frameshift. 34 of the 209 TSC2 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| C206Wfs*10 | c.618del | Exon 7 | 2,056,213 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D702Gfs*4 | c.2105_2108del | Exon 20 | 2,072,244 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D1535Tfs*41 | c.4602del | Exon 36 | 2,085,261 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E47Tfs*19 | c.137_138del | Exon 2 | 2,048,749 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E1087Gfs*81 | c.3259dup | Exon 28 | 2,079,398 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E1087Sfs*16 | c.3259del | Exon 28 | 2,079,398 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F163Cfs*25 | c.488_489del | Exon 6 | 2,055,406 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F924Lfs*24 | c.2772del | Exon 25 | 2,076,516 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F1645Cfs*7 | c.4934_4935del | Exon 38 | 2,086,814 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G654Lfs*2 | c.1959_1960del | Exon 19 | 2,071,789 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I1754Sfs*72 | c.5259del | Exon 41 | 2,088,323 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L45Efs*3 | c.133_136del | Exon 2 | 2,048,746 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L697Ffs*6 | c.2090dup | Exon 19 | 2,071,925 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L922Vfs*3 | c.2764_2765del | Exon 25 | 2,076,511 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L1228Cfs*97 | c.3682del | Exon 31 | 2,081,662 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L1266Afs*55 | c.3796_3797del | Exon 31 | 2,081,777 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L1394Afs*19 | c.4180_4181del | Exon 34 | 2,084,399 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| M276Vfs*61 | c.826_827del | Exon 9 | 2,057,155 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N1515Sfs*60 | c.4544_4547del | Exon 35 | 2,084,997 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P1264Lfs*61 | c.3791del | Exon 31 | 2,081,770 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P1267Afs*55 | c.3797dup | Exon 31 | 2,081,780 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q1525Vfs*3 | c.4573_4574del | Exon 36 | 2,085,230 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R406Ifs*3 | c.1217_1218del | Exon 12 | 2,061,963 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R691Afs*7 | c.2071del | Exon 19 | 2,071,906 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R1451Pfs*73 | c.4351dup | Exon 34 | 2,084,567 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S1232Tfs*92 | c.3693_3696del | Exon 31 | 2,081,674 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S1338Cfs*75 | c.4013_4014del | Exon 34 | 2,084,234 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S1420Gfs*55 | c.4258_4261del | Exon 34 | 2,084,476 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S1738Pfs*88 | c.5212del | Exon 41 | 2,088,277 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T147Rfs*15 | c.440_441del | Exon 5 | 2,054,396 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T1077Nfs*93 | c.3223_3229dup | Exon 28 | 2,079,362 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V1069Dfs*98 | c.3206_3207del | Exon 28 | 2,079,347 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V1492Cfs*84 | c.4473del | Exon 34 | 2,084,692 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y1250Qfs*71 | c.3747_3748del | Exon 31 | 2,081,729 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |