single nucleotide variant | NM_000371.4(TTR):c.95T>C (p.Leu32Pro) | TTR | Pathogenic | 18 | 29172884 | 29172884 | T | C | criteria provided, single submitter | ClinGen:CA256853,UniProtKB:P02766#VAR_038959,OMIM:176300.0041 |
single nucleotide variant | NM_000371.4(TTR):c.112G>A (p.Asp38Asn) | TTR | Pathogenic | 18 | 29172901 | 29172901 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000371.4(TTR):c.113A>G (p.Asp38Gly) | TTR | Pathogenic | 18 | 29172902 | 29172902 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA123114,UniProtKB:P02766#VAR_007549,OMIM:176300.0047 |
single nucleotide variant | NM_000371.4(TTR):c.116C>A (p.Ala39Asp) | TTR | Pathogenic/Likely pathogenic | 18 | 29172905 | 29172905 | C | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000371.4(TTR):c.118G>A (p.Val40Ile) | TTR | Pathogenic | 18 | 29172907 | 29172907 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA256849,UniProtKB:P02766#VAR_007550,OMIM:176300.0039 |
single nucleotide variant | NM_000371.4(TTR):c.128G>A (p.Ser43Asn) | TTR | Pathogenic/Likely pathogenic | 18 | 29172917 | 29172917 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000371.4(TTR):c.130C>T (p.Pro44Ser) | TTR | Pathogenic | 18 | 29172919 | 29172919 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA297519,UniProtKB:P02766#VAR_007551 |
single nucleotide variant | NM_000371.4(TTR):c.148G>A (p.Val50Met) | TTR | Pathogenic | 18 | 29172937 | 29172937 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA256790,UniProtKB:P02766#VAR_007554,OMIM:176300.0001 |
single nucleotide variant | NM_000371.4(TTR):c.148G>C (p.Val50Leu) | TTR | Pathogenic | 18 | 29172937 | 29172937 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA256825,UniProtKB:P02766#VAR_007553,OMIM:176300.0024 |
single nucleotide variant | NM_000371.4(TTR):c.149T>C (p.Val50Ala) | TTR | Pathogenic | 18 | 29172938 | 29172938 | T | C | criteria provided, multiple submitters, no conflicts | UniProtKB:P02766#VAR_007552,OMIM:176300.0014,ClinGen:CA256810 |