| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Breast-ovarian cancer, familial, susceptibility to, 2 | |
| | | Single nucleotide variant (missense variant) | Medulloblastoma | |
| | | Duplication (frameshift variant) | Syndromic X-linked intellectual disability 34 | |
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