| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | Myofibromatosis, infantile, 2 | |
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