| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126806423, TTN
+1 more (P13491fs +5 more) | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Tibial muscular dystrophy +7 more | |
| | | Single nucleotide variant (synonymous variant) | Early-onset myopathy with fatal cardiomyopathy +8 more | |
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