Variants
SMAD4 variants
The 15 SMAD4 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| c.424+1G>A | Intron 3 | 51,048,861 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| D351V | c.1052A>T | Exon 9 | 51,065,519 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D415Efs*20 | c.1245_1248del | Exon 10 | 51,067,120 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G299Dfs*37 | c.894del | Exon 7 | 51,058,443 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G352R | c.1054G>A | Exon 9 | 51,065,521 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I500T | c.1499T>C | Exon 12 | 51,078,307 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I500V | c.1498A>G | Exon 12 | 51,078,306 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P342Lfs*42 | c.1023del | Exon 9 | 51,065,488 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R361C | c.1081C>T | Exon 9 | 51,065,548 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R361H | c.1082G>A | Exon 9 | 51,065,549 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R496C | c.1486C>T | Exon 12 | 51,078,294 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S178X | c.533C>G | Exon 5 | 51,054,859 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S411Lfs*17 | c.1231_1232del | Exon 10 | 51,067,107 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S517Hfs*9 | c.1549_1550del | Exon 12 | 51,078,354 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y353C | c.1058A>G | Exon 9 | 51,065,525 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |