Variants
TGFBR1 variants
The 16 TGFBR1 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 |
|---|---|---|---|---|---|
| A202V | c.605C>T | Exon 4 | 99,137,889 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A355T | c.1063G>A | Exon 6 | 99,144,821 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E227K | c.679G>A | Exon 4 | 99,137,963 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E228del | c.683_685del | Exon 4 | 99,137,961 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G214S | c.640G>A | Exon 4 | 99,137,924 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G312D | c.935G>A | Exon 5 | 99,142,665 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G312S | c.934G>A | Exon 5 | 99,142,664 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H283R | c.848A>G | Exon 5 | 99,142,578 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| H315R | c.944A>G | Exon 5 | 99,142,674 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L486S | c.1457T>C | Exon 9 | 99,149,250 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| M253V | c.757A>G | Exon 4 | 99,138,041 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R80X | c.238C>T | Exon 2 | 99,128,995 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R237G | c.709A>G | Exon 4 | 99,137,993 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R487Q | c.1460G>A | Exon 9 | 99,149,253 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R487W | c.1459C>T | Exon 9 | 99,149,252 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S241L | c.722C>T | Exon 4 | 99,138,006 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |