| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant +1 more) | Mosaic variegated aneuploidy syndrome 1 +3 more | |
| | BUB1B, BUB1B-PAK6 (N1032H) | Single nucleotide variant (missense variant +1 more) | Mosaic variegated aneuploidy syndrome 1 +1 more | GConflicting classifications of pathogenicity |
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