Variants
TPM1 variants
The 8 TPM1 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. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A63V | c.188C>T | Exon 2 | 63,044,100 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D159N | c.475G>A | Exon 4 | 63,059,663 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D175N | c.523G>A | Exon 5 | 63,060,899 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E192K | c.574G>A | Exon 6 | 63,061,723 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R160H | c.479G>A | Exon 4 | 63,059,667 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S215L | c.644C>T | Exon 7 | 63,062,219 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T201M | c.602C>T | Exon 6 | 63,061,751 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V95A | c.284T>C | Exon 3 | 63,057,028 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |