Duplication | NM_001276345.2(TNNT2):c.844dup (p.Gln282fs) | TNNT2 | Pathogenic | 1 | 201328757 | 201328758 | T | TG | criteria provided, single submitter | ClinGen:CA297460 |
single nucleotide variant | NM_001276345.2(TNNT2):c.847A>G (p.Lys283Glu) | TNNT2 | Pathogenic | 1 | 201328755 | 201328755 | T | C | criteria provided, single submitter | ClinGen:CA344202333 |
single nucleotide variant | NM_001276345.2(TNNT2):c.851+1G>C | TNNT2 | Pathogenic/Likely pathogenic | 1 | 201328750 | 201328750 | C | G | criteria provided, single submitter | ClinGen:CA005203 |
single nucleotide variant | NM_001276345.2(TNNT2):c.851+1G>T | TNNT2 | Pathogenic/Likely pathogenic | 1 | 201328750 | 201328750 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA005210 |
single nucleotide variant | NM_001276345.2(TNNT2):c.851+1G>A | TNNT2 | Pathogenic/Likely pathogenic | 1 | 201328750 | 201328750 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA005196,OMIM:191045.0003 |
single nucleotide variant | NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter) | TNNT2 | Pathogenic/Likely pathogenic | 1 | 201328345 | 201328345 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA005312 |
single nucleotide variant | NM_001276345.2(TNNT2):c.891G>A (p.Trp297Ter) | TNNT2 | Pathogenic/Likely pathogenic | 1 | 201328344 | 201328344 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA005319 |
single nucleotide variant | NM_001267550.2(TTN):c.634C>T (p.Gln212Ter) | TTN | Likely pathogenic | 2 | 179664587 | 179664587 | G | A | criteria provided, single submitter | ClinGen:CA349524918 |
Deletion | NM_001267550.2(TTN):c.1558del (p.Thr520fs) | TTN | Likely pathogenic | 2 | 179656903 | 179656903 | GT | G | criteria provided, single submitter | - |
copy number loss | GRCh37/hg19 2q31.2(chr2:179403525-179655493) | TTN | Likely pathogenic | 2 | 179403525 | 179655493 | na | na | criteria provided, single submitter | - |