Variants
TSC2 variants
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.
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 |
|---|---|---|---|---|---|
| A889V | c.2666C>T | Exon 24 | 2,076,094 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.138+5G>A | Intron 2 | 2,048,758 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.139-1G>A | Intron 2 | 2,050,399 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.139-2A>G | Intron 2 | 2,050,398 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.225+1G>A | Intron 3 | 2,050,487 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.336+1G>T | Intron 4 | 2,053,453 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.336+5G>C | Intron 4 | 2,053,457 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.337-1G>A | Intron 4 | 2,054,295 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.481+1G>A | Intron 5 | 2,054,441 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.599+1G>A | Intron 6 | 2,055,520 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.599+5G>A | Intron 6 | 2,055,524 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.648+1G>A | Intron 7 | 2,056,245 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.648+1G>C | Intron 7 | 2,056,245 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.649-1G>A | Intron 7 | 2,056,643 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.774+1G>A | Intron 8 | 2,056,770 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.775-2A>G | Intron 8 | 2,057,103 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.848+1G>A | Intron 9 | 2,057,179 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.848+281C>T | Intron 9 | 2,057,459 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.849-1G>A | Intron 9 | 2,058,746 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.849-1G>C | Intron 9 | 2,058,746 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.975+1G>A | Intron 10 | 2,058,874 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.976-15G>A | Intron 10 | 2,060,655 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1257+1G>A | Intron 12 | 2,062,009 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1258-2A>G | Intron 12 | 2,062,495 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1444-1G>A | Intron 14 | 2,064,271 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1444-2A>G | Intron 14 | 2,064,270 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1717-1G>A | Intron 16 | 2,070,455 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1840-3C>G | Intron 17 | 2,071,507 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2098-1G>A | Intron 19 | 2,072,240 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2221-1G>A | Intron 20 | 2,072,848 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2354_2355+2del | Exon 21 | 2,072,981 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2356-1G>A | Intron 21 | 2,074,199 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2546-2A>G | Intron 22 | 2,075,797 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2639+1G>A | Intron 23 | 2,075,893 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2640-2A>G | Intron 23 | 2,076,066 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2838-122G>A | Intron 25 | 2,077,476 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3131+1G>A | Intron 27 | 2,079,197 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3132-1G>C | Intron 27 | 2,079,275 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3284+1G>A | Intron 28 | 2,079,429 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3284+1G>C | Intron 28 | 2,079,429 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3397+1G>A | Intron 29 | 2,079,670 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3398-1del | Intron 29 | 2,080,163 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3398-2_3398-1insG | Intron 29 | 2,080,163 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3610+1G>A | Intron 30 | 2,080,378 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3610+1G>T | Intron 30 | 2,080,378 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.3884-1G>C | Intron 32 | 2,083,694 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.4005+1G>A | Intron 33 | 2,083,817 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.4005+1G>T | Intron 33 | 2,083,817 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.4006-1G>C | Intron 33 | 2,084,227 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.4149C>T | Exon 34 | 2,084,371 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.4493+1G>A | Intron 34 | 2,084,716 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.4493+2T>C | Intron 34 | 2,084,717 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.4569+1G>A | Intron 35 | 2,085,027 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.4569+1G>T | Intron 35 | 2,085,027 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.4569+2T>C | Intron 35 | 2,085,028 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.4662+1G>A | Intron 36 | 2,085,323 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.4850-2A>G | Intron 37 | 2,086,730 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.4989+1G>A | Intron 38 | 2,086,872 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.4990-1G>A | Intron 38 | 2,087,862 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.5068+1G>A | Intron 39 | 2,087,942 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.5068+2T>C | Intron 39 | 2,087,943 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.5069-2A>G | Intron 39 | 2,088,046 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.5160+1G>A | Intron 40 | 2,088,140 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.5161-1G>A | Intron 40 | 2,088,226 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.5161-1G>C | Intron 40 | 2,088,226 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.5246_5259+13del | Exon 41 | 2,088,311 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.5259+2T>A | Intron 41 | 2,088,327 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| C206Wfs*10 | c.618del | Exon 7 | 2,056,213 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C696Y | c.2087G>A | Exon 19 | 2,071,924 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| C804R | c.2410T>C | Exon 22 | 2,074,254 | Pathogenic/likely 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 |
| E366X | c.1096G>T | Exon 11 | 2,060,790 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E393X | c.1177G>T | Exon 12 | 2,061,928 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E399X | c.1195G>T | Exon 12 | 2,061,946 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E420X | c.1258G>T | Exon 13 | 2,062,497 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E483X | c.1447G>T | Exon 15 | 2,064,275 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E793X | c.2377G>T | Exon 22 | 2,074,221 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E942X | c.2824G>T | Exon 25 | 2,076,572 | 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 |
| E1366X | c.4096G>T | Exon 34 | 2,084,318 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E1552del | c.4655_4657del | Exon 36 | 2,085,312 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E1558K | c.4672G>A | Exon 37 | 2,086,202 | 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 |
| G1204E | c.3611G>A | Exon 31 | 2,081,595 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H597R | c.1790A>G | Exon 17 | 2,070,529 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H1640Y | c.4918C>T | Exon 38 | 2,086,800 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H1746_R1751del | c.5238_5255del | Exon 41 | 2,088,292 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H1746P | c.5237A>C | Exon 41 | 2,088,303 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I820del | c.2459_2461del | Exon 22 | 2,074,294 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I1614del | c.4842_4844del | Exon 37 | 2,086,368 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I1648T | c.4943T>C | Exon 38 | 2,086,825 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I1747_Q1752del | c.5239_5256del | Exon 41 | 2,088,304 | 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 |
| K16X | c.45dup | Exon 2 | 2,048,657 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |