| | LOC130059125, LOC130059126 +675 more | Copy number gain | See cases | |
| | LOC130059149, LOC130059150 +1738 more | Copy number gain | See cases | |
| | LOC130059330, LOC130059331 +599 more | Copy number gain | See cases | |
| | LOC130059197, LOC130059198 +575 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130059618, LOC130059619 +1429 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130059185, LOC130059186 +869 more | Copy number gain | See cases | |
| | ATP6V0D1, B3GNT9 +113 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (splice donor variant) | Cleidocranial dysplasia 2 | |
| | | Microsatellite (intron variant) | CBFB-related condition | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (frameshift variant) | CBFB-related condition | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | CBFB-related condition | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (splice acceptor variant +2 more) | Cleidocranial dysplasia 2 | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | not provided | |
| | | Duplication (frameshift variant +1 more) | Acute myeloid leukemia | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Duplication (3 prime UTR variant) | CBFB-related condition | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Deletion | not provided | |
| | | Deletion | Dyskeratosis congenita, autosomal dominant 6 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Poly (ADP-Ribose) polymerase inhibitor response | |
| | | Copy number loss | Poly (ADP-Ribose) polymerase inhibitor response | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Breast ductal adenocarcinoma | |
| | | Copy number loss | Breast ductal adenocarcinoma | |
| | SLC7A6, SLC7A6OS +324 more | Complex | Breast ductal adenocarcinoma | |