Variants
TSC2 variants
Predicted effect: In-frame insertion or deletion. 7 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 |
|---|---|---|---|---|---|
| E1552del | c.4655_4657del | Exon 36 | 2,085,312 | 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 |
| 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 |
| I1747_Q1752del | c.5239_5256del | Exon 41 | 2,088,304 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K1638del | c.4912_4914del | Exon 38 | 2,086,790 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S428del | c.1283_1285del | Exon 13 | 2,062,519 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |