Links from MedGen
Items: 4
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr2:179498214
- GRCh38:
- Chr2:178633487
| TTN | A12650V, A5351V, A14291V, A5418V, A11723V, A5226V | Left ventricular noncompaction 2 | Uncertain significance
(Aug 5, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:179435132
- GRCh38:
- Chr2:178570405
| TTN, TTN-AS1 | E25243*, E16303*, E16370*, E22675*, E23602*, E16178* | Left ventricular noncompaction 2 | Likely pathogenic
(May 1, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr2:179396364
- GRCh38:
- Chr2:178531637
| TTN, TTN-AS1 | T33352M, T34993M, T32425M, T26053M, T26120M, T25928M | Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J, not provided,
Left ventricular noncompaction 2 | Conflicting interpretations of pathogenicity
(Oct 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:179486230-179486231
- GRCh38:
- Chr2:178621503-178621504
| LOC126806427, TTN | R12540fs, R13467fs, R6043fs, R15108fs, R6168fs, R6235fs | Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G,
not provided, Left ventricular noncompaction 2 | Conflicting interpretations of pathogenicity
(Apr 10, 2023) | criteria provided, conflicting interpretations |