| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC107303340, VHL (R161* +1 more) | Single nucleotide variant (nonsense +1 more) | Von Hippel-Lindau syndrome +3 more | |
| | | Duplication (frameshift variant) | Familial infantile myasthenia | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia +1 more | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
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