| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mosaic variegated aneuploidy syndrome 1 +3 more | |
| | BUB1B, BUB1B-PAK6 +1 more (A957fs) | Deletion (frameshift variant +1 more) | Mosaic variegated aneuploidy syndrome 1 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | BUB1B, BUB1B-PAK6 (N1004S) | Single nucleotide variant (missense 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 |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
Click to view in NCBI Gene