Variants
TGFBR2 variants
The 23 TGFBR2 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 |
|---|---|---|---|---|---|
| A414P | c.1240G>C | Exon 4 | 30,672,423 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A527T | c.1579G>A | Exon 7 | 30,691,474 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A527V | c.1580C>T | Exon 7 | 30,691,475 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A531T | c.1591G>A | Exon 7 | 30,691,486 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.1511G>A | Exon 6 | 30,688,498 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.1524+1G>A | Intron 6 | 30,688,512 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| C393Y | c.1178G>A | Exon 4 | 30,672,361 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D446N | c.1336G>A | Exon 5 | 30,674,186 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D522N | c.1564G>A | Exon 7 | 30,691,459 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L305F | c.913C>T | Exon 4 | 30,672,096 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L305H | c.914T>A | Exon 4 | 30,672,097 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| M425V | c.1273A>G | Exon 5 | 30,674,123 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N435K | c.1305T>A | Exon 5 | 30,674,155 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R254H | c.761G>A | Exon 4 | 30,671,944 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R460C | c.1378C>T | Exon 5 | 30,674,228 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R460H | c.1379G>A | Exon 5 | 30,674,229 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R495X | c.1483C>T | Exon 6 | 30,688,470 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R497X | c.1489C>T | Exon 6 | 30,688,476 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R528C | c.1582C>T | Exon 7 | 30,691,477 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R528H | c.1583G>A | Exon 7 | 30,691,478 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R537C | c.1609C>T | Exon 7 | 30,691,504 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W504X | c.1512G>A | Exon 6 | 30,688,499 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y470D | c.1408T>G | Exon 6 | 30,688,395 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |