| | | Single nucleotide variant (missense variant +1 more) | FGFR3-related disorder +31 more | |
| | | Single nucleotide variant (missense variant +1 more) | Noonan syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | DNA ligase IV deficiency +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Multiple myeloma +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Multiple myeloma +2 more | |
| | | Indel (missense variant) | Multiple myeloma +1 more | |
| | | Single nucleotide variant (missense variant) | DNA ligase IV deficiency +2 more | |
| | | Deletion (frameshift variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | DNA ligase IV deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | DNA ligase IV deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | DNA ligase IV deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Nasopharyngeal carcinoma +14 more | |
| | | Single nucleotide variant (missense variant) | Li-Fraumeni syndrome | |
| | | Single nucleotide variant (missense variant) | Li-Fraumeni syndrome | |