Variants
TSC2 variants
Predicted effect: Stop lost. The one TSC2 variant of the 209 with a page here. Its page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| X1808Rext*76 | c.5422_5423del | Exon 42 | 2,088,603 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |