| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome +15 more | |
| | | Single nucleotide variant (missense variant) | Clubfoot | |
| | | Single nucleotide variant (missense variant) | Immune deficiency, familial variable +21 more | GConflicting classifications of pathogenicity; risk factor |
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