| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more | |
| | | Single nucleotide variant (intron variant) | Dilated cardiomyopathy 1G +1 more | |
| | LOC126806433, TTN (G2392S +1 more) | Single nucleotide variant (missense variant) | Cardiovascular phenotype +7 more | |
| | LOC126806433, TTN (R2354H +1 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +8 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene