| | | Copy number loss | See cases | |
| | LOC132088765, LOC132088766 +147 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | BAZ2B, BAZ2B-AS1 +197 more | Copy number loss | See cases | |
| | DAPL1, LOC110121120 +24 more | Copy number gain | See cases | |
| | DAPL1, LOC110121120 +18 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | DAPL1, LOC132088763 (I57T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | DAPL1, LOC132088763 (D61N) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | DAPL1, LOC132088763 (A62T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | DAPL1, LOC132088763 (A66E) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Microsatellite | not provided | |
| | | Microsatellite | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Mosaic trisomy 2 | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Poly (ADP-Ribose) polymerase inhibitor response | |
| | | Copy number loss | 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 | |