| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130002869, MED27 (R25H) | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia | |
| | LOC130002869, MED27 (L11P) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | not provided | |
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