Variants
TSC2 variants
Predicted effect: Splice site or region. 63 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 | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|
| 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.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.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.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 |