Variants
TTR variants
The 36 TTR 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 |
|---|---|---|---|---|---|
| A39D | c.116C>A | Exon 2 | 31,592,942 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A101V | c.302C>T | Exon 3 | 31,595,221 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A117S | c.349G>T | Exon 4 | 31,598,580 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.210T>A | Exon 3 | 31,595,129 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.252T>G | Exon 3 | 31,595,171 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| C30R | c.88T>C | Exon 2 | 31,592,914 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D38G | c.113A>G | Exon 2 | 31,592,939 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| D58A | c.173A>C | Exon 2 | 31,592,999 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E82K | c.244G>A | Exon 3 | 31,595,163 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E109K | c.325G>A | Exon 3 | 31,595,244 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E109Q | c.325G>C | Exon 3 | 31,595,244 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| E109V | c.326A>T | Exon 3 | 31,595,245 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| F84L | c.250T>C | Exon 3 | 31,595,169 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G67A | c.200G>C | Exon 2 | 31,593,026 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G67E | c.200G>A | Exon 2 | 31,593,026 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| G67V | c.200G>T | Exon 2 | 31,593,026 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I88L | c.262A>T | Exon 3 | 31,595,181 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I93V | c.277A>G | Exon 3 | 31,595,196 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| I127V | c.379A>G | Exon 4 | 31,598,610 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L78H | c.233T>A | Exon 3 | 31,595,152 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| P44S | c.130C>T | Exon 2 | 31,592,956 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R54T | c.161G>C | Exon 2 | 31,592,987 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S43N | c.128G>A | Exon 2 | 31,592,954 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S70R | c.210T>G | Exon 3 | 31,595,129 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S72P | c.214T>C | Exon 3 | 31,595,133 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| S97Y | c.290C>A | Exon 3 | 31,595,209 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T80A | c.238A>G | Exon 3 | 31,595,157 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| T80I | c.239C>T | Exon 3 | 31,595,158 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V40I | c.118G>A | Exon 2 | 31,592,944 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V50A | c.149T>C | Exon 2 | 31,592,975 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V50M | c.148G>A | Exon 2 | 31,592,974 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V142A | c.425T>C | Exon 4 | 31,598,656 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V142del | c.424_426del | Exon 4 | 31,598,651 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| V142I | c.424G>A | Exon 4 | 31,598,655 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y89H | c.265T>C | Exon 3 | 31,595,184 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| Y98F | c.293A>T | Exon 3 | 31,595,212 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |