Deletion | NM_133378.4(TTN):c.41592_41611del (p.Val13865fs) | TTN | Likely pathogenic | 2 | 179478809 | 179478828 | GCCTGAACTGGTTCACCAACA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA273619 |
Deletion | NM_001267550.2(TTN):c.106019del (p.Gly35340fs) | TTN | Pathogenic | 2 | 179395323 | 179395323 | AC | A | criteria provided, multiple submitters, no conflicts | ClinVar:178839 |
Deletion | NM_001267550.2(TTN):c.71634del (p.Ala23879fs) | TTN | Likely pathogenic | 2 | 179439225 | 179439225 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA273255 |
Deletion | NM_001267550.2(TTN):c.70275del (p.Ser23425fs) | TTN | Likely pathogenic | 2 | 179440584 | 179440584 | CA | C | criteria provided, single submitter | ClinGen:CA273590 |
single nucleotide variant | NM_001267550.2(TTN):c.68195C>A (p.Ser22732Ter) | TTN | Likely pathogenic | 2 | 179443562 | 179443562 | G | T | criteria provided, single submitter | ClinGen:CA273679 |
Deletion | NM_001267550.2(TTN):c.60399del (p.Ser20134fs) | TTN | Likely pathogenic | 2 | 179456053 | 179456053 | AT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA273556 |
Deletion | NM_001267550.2(TTN):c.72669del (p.Asp24224fs) | TTN | Pathogenic/Likely pathogenic | 2 | 179438190 | 179438190 | CA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA273566 |
single nucleotide variant | NM_001267550.2(TTN):c.71321G>A (p.Trp23774Ter) | TTN | Pathogenic/Likely pathogenic | 2 | 179439538 | 179439538 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA273256 |
single nucleotide variant | NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter) | TTN | Pathogenic/Likely pathogenic | 2 | 179442793 | 179442793 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA273260 |
single nucleotide variant | NM_001267550.2(TTN):c.62217T>A (p.Tyr20739Ter) | TTN | Pathogenic/Likely pathogenic | 2 | 179454235 | 179454235 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA273264 |