| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Microcephaly, short stature, and impaired glucose metabolism 2 | |
| | | Single nucleotide variant (nonsense) | Microcephaly, short stature, and impaired glucose metabolism 2 | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Inversion (missense variant) | not provided | |
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