| | | Deletion (frameshift variant +1 more) | Hao-Fountain syndrome due to USP7 mutation | |
| | | Single nucleotide variant (missense variant +1 more) | Hao-Fountain syndrome | |
| | | Microsatellite (inframe_insertion) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hao-Fountain syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | USP7-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_insertion) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Microsatellite (inframe_deletion) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Hao-Fountain syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Hao-Fountain syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Hao-Fountain syndrome | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Hao-Fountain syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |