Variants
SMAD3 variants
The 5 SMAD3 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 |
|---|---|---|---|---|---|
| c.3G>A | Exon 1 | 67,066,157 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.401-6G>A | Intron 2 | 67,165,247 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| R90C | c.268C>T | Exon 2 | 67,164,956 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R287W | c.859C>T | Exon 6 | 67,181,441 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S423N | c.1268G>A | Exon 9 | 67,190,526 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |