Variants
TNNT2 variants
The 36 TNNT2 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 |
|---|---|---|---|---|---|
| c.851+1G>A | Intron 16 | 201,359,622 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| R104H | c.311G>A | Exon 10 | 201,365,291 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| W297X | c.890G>A | Exon 17 | 201,359,217 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A182S | c.544G>T | Exon 12 | 201,363,352 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.851+1G>T | Intron 16 | 201,359,622 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.891G>A | Exon 17 | 201,359,216 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| D96A | c.287A>C | Exon 9 | 201,365,617 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E173del | c.517_519del | Exon 12 | 201,363,376 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E173K | c.517G>A | Exon 12 | 201,363,379 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F120I | c.358T>A | Exon 10 | 201,365,244 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F120L | c.360T>G | Exon 10 | 201,365,242 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I89N | c.266T>A | Exon 9 | 201,365,638 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I100N | c.299T>A | Exon 10 | 201,365,303 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K107N | c.321G>T | Exon 10 | 201,365,281 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| K220del | c.659_661del | Exon 14 | 201,361,970 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| N281I | c.842A>T | Exon 16 | 201,359,632 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R102Q | c.305G>A | Exon 10 | 201,365,297 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R102W | c.304C>T | Exon 10 | 201,365,298 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R104C | c.310C>T | Exon 10 | 201,365,292 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R104L | c.311G>T | Exon 10 | 201,365,291 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R140C | c.418C>T | Exon 11 | 201,364,369 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R141P | c.422G>C | Exon 11 | 201,364,365 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R141Q | c.422G>A | Exon 11 | 201,364,365 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R141W | c.421C>T | Exon 11 | 201,364,366 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R144G | c.430C>G | Exon 11 | 201,364,357 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R144W | c.430C>T | Exon 11 | 201,364,357 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R149H | c.446G>A | Exon 11 | 201,364,341 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R151Q | c.452G>A | Exon 11 | 201,364,335 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R151W | c.451C>T | Exon 11 | 201,364,336 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R154W | c.460C>T | Exon 11 | 201,364,327 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R183Q | c.548G>A | Exon 12 | 201,363,348 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R183W | c.547C>T | Exon 12 | 201,363,349 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R206W | c.616C>T | Exon 14 | 201,362,016 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R215W | c.643C>T | Exon 14 | 201,361,989 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R288P | c.863G>C | Exon 17 | 201,359,244 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S189F | c.566C>T | Exon 12 | 201,363,330 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |