| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 +1 more | |
| | | Single nucleotide variant (nonsense) | Myopathy, centronuclear, 5 | |
| | | Single nucleotide variant (missense variant) | Myopathy, centronuclear, 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (synonymous variant) | Alacrima, achalasia, and intellectual disability syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Alacrima, achalasia, and intellectual disability syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Alacrima, achalasia, and intellectual disability syndrome | GPathogenic/Likely pathogenic |
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