| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number loss | See cases | |
| | LOC123620117, LOC123620118 +324 more | Copy number loss | See cases | |
| | BYSL, MED20 (L85F +1 more) | Single nucleotide variant (missense variant) | not provided | |
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