Variants
BAG3 variants
The 14 BAG3 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 |
|---|---|---|---|---|---|
| E455K | c.1363G>A | Exon 4 | 119,676,917 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P209L | c.626C>T | Exon 3 | 119,672,373 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P470S | c.1408C>T | Exon 4 | 119,676,962 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Q251X | c.751C>T | Exon 3 | 119,672,498 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R90X | c.268C>T | Exon 2 | 119,669,938 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R121X | c.361C>T | Exon 2 | 119,670,031 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R123X | c.367C>T | Exon 2 | 119,670,037 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R309X | c.925C>T | Exon 4 | 119,676,479 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R473X | c.1417C>T | Exon 4 | 119,676,971 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W26X | c.77G>A | Exon 1 | 119,651,752 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| W36X | c.108G>A | Exon 1 | 119,651,783 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y205Tfs*6 | c.612del | Exon 3 | 119,672,354 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y233X | c.699C>A | Exon 3 | 119,672,446 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y451X | c.1353C>A | Exon 4 | 119,676,907 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |