| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Microcephaly, epilepsy, and diabetes syndrome 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Microcephaly, epilepsy, and diabetes syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, epilepsy, and diabetes syndrome 1 +1 more | |
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