| | | Single nucleotide variant (missense variant) | not specified | |
| | CAMK1, OGG1 (I266T +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Factor I deficiency +1 more | GConflicting classifications of pathogenicity |
| | LARP7, MIR302CHG (I255T +4 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Acrodysostosis 2 with or without hormone resistance | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Sotos syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Renal cell carcinoma | |
| | | Single nucleotide variant (missense variant) | Lethal congenital glycogen storage disease of heart | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | Niemann-Pick disease, type A +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
| | BACE1, LOC126861353 (I389T +6 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant) | DNA ligase IV deficiency | |
| | | Single nucleotide variant (missense variant) | DICER1-related tumor predisposition | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Arrhythmogenic right ventricular dysplasia 10 +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (I337T +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |