Variants
TSC1 variants
The 115 TSC1 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 |
|---|---|---|---|---|---|
| A283Pfs*35 | c.846del | Exon 9 | 132,912,348 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.107-1G>A | Intron 3 | 132,927,305 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.211-1G>A | Intron 4 | 132,925,740 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.211-2A>C | Intron 4 | 132,925,741 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.363+1G>T | Intron 5 | 132,925,586 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.363+668G>T | Intron 5 | 132,924,919 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.364-2A>G | Intron 5 | 132,923,494 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.508+2T>C | Intron 6 | 132,923,346 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.509-1G>A | Intron 6 | 132,921,974 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.663+1G>A | Intron 7 | 132,921,818 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.664-1G>A | Intron 7 | 132,921,437 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.664-15A>G | Intron 7 | 132,921,451 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.737+1G>A | Intron 8 | 132,921,362 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.737+3A>G | Intron 8 | 132,921,360 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.738-1G>C | Intron 8 | 132,912,458 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.738-2A>G | Intron 8 | 132,912,459 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.738-2A>T | Intron 8 | 132,912,459 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.913+1G>A | Intron 9 | 132,912,281 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1029+1G>A | Intron 10 | 132,911,452 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1029+1G>C | Intron 10 | 132,911,452 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1439-1G>A | Intron 14 | 132,906,140 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1997+1G>A | Intron 15 | 132,905,580 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1997+1G>T | Intron 15 | 132,905,580 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2027G>A | Exon 16 | 132,904,425 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2041+1G>A | Intron 16 | 132,904,410 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2208+2T>A | Intron 17 | 132,903,649 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2503-1G>C | Intron 19 | 132,900,838 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2625+367A>G | Intron 20 | 132,900,348 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.2626-1G>A | Intron 20 | 132,897,611 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| D471Vfs*61 | c.1412del | Exon 14 | 132,906,756 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E78X | c.232G>T | Exon 5 | 132,925,718 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E478Kfs*53 | c.1431_1434del | Exon 14 | 132,906,734 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E636Gfs*51 | c.1907_1908del | Exon 15 | 132,905,669 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E663X | c.1987G>T | Exon 15 | 132,905,591 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E731X | c.2191G>T | Exon 17 | 132,903,668 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E839Rfs*9 | c.2515_2518del | Exon 20 | 132,900,821 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E864X | c.2590G>T | Exon 20 | 132,900,750 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E876X | c.2626G>T | Exon 21 | 132,897,610 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F216Lfs*8 | c.648del | Exon 7 | 132,921,833 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F216S | c.647T>C | Exon 7 | 132,921,835 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F216X | c.647_648del | Exon 7 | 132,921,833 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G443Ifs*15 | c.1326_1327del | Exon 13 | 132,907,306 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K630Qfs*22 | c.1888_1891del | Exon 15 | 132,905,686 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L136Vfs*14 | c.406_418delinsGT | Exon 6 | 132,923,438 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L330Qfs*10 | c.989_990del | Exon 10 | 132,911,491 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N716Tfs*8 | c.2145del | Exon 17 | 132,903,713 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N837Kfs*3 | c.2510dup | Exon 20 | 132,900,829 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N837Vfs*11 | c.2509_2512del | Exon 20 | 132,900,827 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N891Kfs*13 | c.2672dup | Exon 21 | 132,897,563 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N891Tfs*40 | c.2672del | Exon 21 | 132,897,563 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P244Lfs*7 | c.731del | Exon 8 | 132,921,368 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P566Lfs*63 | c.1697del | Exon 15 | 132,905,880 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q55X | c.163C>T | Exon 4 | 132,927,248 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q109X | c.325C>T | Exon 5 | 132,925,625 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q149X | c.445C>T | Exon 6 | 132,923,411 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q301Efs*2 | c.901_902del | Exon 9 | 132,912,292 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q301X | c.901C>T | Exon 9 | 132,912,294 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q325X | c.973C>T | Exon 10 | 132,911,509 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q328X | c.982C>T | Exon 10 | 132,911,500 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q343X | c.1027C>T | Exon 10 | 132,911,455 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q413Rfs*27 | c.1237del | Exon 12 | 132,910,596 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q527Rfs*7 | c.1580_1581del | Exon 15 | 132,905,996 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q527X | c.1579C>T | Exon 15 | 132,905,999 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q654Tfs*34 | c.1959dup | Exon 15 | 132,905,618 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q654X | c.1960C>T | Exon 15 | 132,905,618 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q739X | c.2215C>T | Exon 18 | 132,902,781 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q743X | c.2227C>T | Exon 18 | 132,902,769 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q748X | c.2242C>T | Exon 18 | 132,902,754 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q758X | c.2272C>T | Exon 18 | 132,902,724 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q765X | c.2293C>T | Exon 18 | 132,902,703 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q781X | c.2341C>T | Exon 18 | 132,902,655 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q783X | c.2347C>T | Exon 18 | 132,902,649 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q794X | c.2380C>T | Exon 18 | 132,902,616 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q797X | c.2389C>T | Exon 18 | 132,902,607 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q830X | c.2488C>T | Exon 19 | 132,901,603 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q842X | c.2524C>T | Exon 20 | 132,900,816 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q843X | c.2527C>T | Exon 20 | 132,900,813 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q844X | c.2530C>T | Exon 20 | 132,900,810 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q897X | c.2689C>T | Exon 21 | 132,897,547 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q898X | c.2692C>T | Exon 21 | 132,897,544 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q906X | c.2716C>T | Exon 21 | 132,897,520 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q926X | c.2776C>T | Exon 21 | 132,897,460 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q936X | c.2806C>T | Exon 21 | 132,897,430 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q940X | c.2818C>T | Exon 22 | 132,897,341 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q942X | c.2824C>T | Exon 22 | 132,897,335 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R228X | c.682C>T | Exon 8 | 132,921,418 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R245X | c.733C>T | Exon 8 | 132,921,367 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R246K | c.737G>A | Exon 8 | 132,921,363 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R336Tfs*5 | c.1005dup | Exon 10 | 132,911,476 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R420Gfs*20 | c.1257del | Exon 12 | 132,910,576 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R424Nfs*17 | c.1271_1272del | Exon 13 | 132,907,361 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R429Qfs*8 | c.1285_1298del | Exon 13 | 132,907,335 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R500X | c.1498C>T | Exon 15 | 132,906,080 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R509X | c.1525C>T | Exon 15 | 132,906,053 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R570Gfs*17 | c.1708_1709del | Exon 15 | 132,905,868 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R692X | c.2074C>T | Exon 17 | 132,903,785 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R786X | c.2356C>T | Exon 18 | 132,902,640 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R892Kfs*11 | c.2675_2676del | Exon 21 | 132,897,559 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S88Ifs*19 | c.261dup | Exon 5 | 132,925,688 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S91Vfs*15 | c.271_272del | Exon 5 | 132,925,677 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |