Variants
TCF4 variants
The 16 TCF4 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. | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|
| c.990G>A | 55,261,466 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| G496C | c.1486G>T | 55,234,548 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G592S | c.1774G>A | 55,228,952 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G656Rfs*55 | c.1965dup | 55,228,275 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L609P | c.1826T>C | 55,228,900 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| Q670Hfs*40 | c.2010_2011del | 55,228,229 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R576Q | c.1727G>A | 55,228,999 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R578H | c.1733G>A | 55,228,993 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R580Q | c.1739G>A | 55,228,987 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R580W | c.1738C>T | 55,228,988 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R582C | c.1744C>T | 55,228,982 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R639Kfs*71 | c.1916_1917del | 55,228,323 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| S253R | c.759C>G | 55,275,649 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| T606I | c.1817C>T | 55,228,909 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| V581F | c.1741G>T | 55,228,985 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| W362X | c.1086G>A | 55,257,375 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |