| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | TTN, TTN-AS1 (N13258fs +5 more) | Deletion (frameshift variant) | Cardiovascular phenotype +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2J | |
Click to view in NCBI Gene