| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | TTN, TTN-AS1 (G14705E +5 more) | Single nucleotide variant (missense variant) | Myopathy, myofibrillar, 9, with early respiratory failure | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +9 more | |
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