Variants
TNNI3 variants
The 18 TNNI3 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 |
|---|---|---|---|---|---|
| R162Q | c.485G>A | Exon 7 | 55,154,094 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R192C | c.574C>T | Exon 8 | 55,151,893 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R192H | c.575G>A | Exon 8 | 55,151,892 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A2V | c.5C>T | Exon 1 | 55,157,585 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A157V | c.470C>T | Exon 7 | 55,154,109 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D196N | c.586G>A | Exon 8 | 55,151,881 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L198V | c.592C>G | Exon 8 | 55,151,875 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R69Afs*8 | c.204del | Exon 5 | 55,156,278 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R141Q | c.422G>A | Exon 7 | 55,154,157 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R145G | c.433C>G | Exon 7 | 55,154,146 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R145Q | c.434G>A | Exon 7 | 55,154,145 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R145W | c.433C>T | Exon 7 | 55,154,146 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R162P | c.485G>C | Exon 7 | 55,154,094 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R170Q | c.509G>A | Exon 7 | 55,154,070 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R170W | c.508C>T | Exon 7 | 55,154,071 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R186Q | c.557G>A | Exon 8 | 55,151,910 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R204H | c.611G>A | Exon 8 | 55,151,856 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S166F | c.497C>T | Exon 7 | 55,154,082 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |