| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (nonsense) | Mosaic variegated aneuploidy syndrome 1 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Premature chromatid separation trait +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Mosaic variegated aneuploidy syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Mosaic variegated aneuploidy syndrome 1 | |
| | | Deletion (frameshift variant) | Premature chromatid separation trait +1 more | |
| | | Duplication (frameshift variant) | Mosaic variegated aneuploidy syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Mosaic variegated aneuploidy syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Premature chromatid separation trait +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Colorectal cancer +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | BUB1B, BUB1B-PAK6 (L1012P) | Single nucleotide variant (missense variant +1 more) | not specified +3 more | |
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