Variants
TSC2 variants
Predicted effect: Synonymous. 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 | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|
| c.4149C>T | Exon 34 | 2,084,371 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |