single nucleotide variant | NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) | TNNT2 | Pathogenic | 1 | 201333464 | 201333464 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA004526,UniProtKB:P45379#VAR_016198,OMIM:191045.0007 |
single nucleotide variant | NM_001276345.2(TNNT2):c.526A>G (p.Arg176Gly) | TNNT2 | Likely pathogenic | 1 | 201332498 | 201332498 | T | C | criteria provided, single submitter | ClinGen:CA004675 |
single nucleotide variant | NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp) | TNNT2 | Pathogenic | 1 | 201332477 | 201332477 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10576372 |
single nucleotide variant | NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) | TNNT2 | Pathogenic/Likely pathogenic | 1 | 201332476 | 201332476 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA004727 |
single nucleotide variant | NM_001276345.2(TNNT2):c.565T>G (p.Ser189Ala) | TNNT2 | Likely pathogenic | 1 | 201332459 | 201332459 | A | C | criteria provided, single submitter | ClinGen:CA35420183 |
single nucleotide variant | NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe) | TNNT2 | Pathogenic/Likely pathogenic | 1 | 201332458 | 201332458 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA004746,UniProtKB:P45379#VAR_016199 |
Deletion | NM_001276345.2(TNNT2):c.609+1del | TNNT2 | Likely pathogenic | 1 | 201331513 | 201331513 | AC | A | criteria provided, single submitter | - |
single nucleotide variant | NM_001276345.2(TNNT2):c.610-1G>A | TNNT2 | Likely pathogenic | 1 | 201331151 | 201331151 | C | T | criteria provided, single submitter | ClinGen:CA344204044 |
single nucleotide variant | NM_001276345.2(TNNT2):c.662T>C (p.Ile221Thr) | TNNT2 | Likely pathogenic | 1 | 201331098 | 201331098 | A | G | criteria provided, single submitter | ClinGen:CA279262 |
single nucleotide variant | NM_001276345.2(TNNT2):c.837C>A (p.Asn279Lys) | TNNT2 | Likely pathogenic | 1 | 201328765 | 201328765 | G | T | criteria provided, single submitter | ClinGen:CA005173 |