| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Fanconi anemia +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Fanconi anemia +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Fanconi anemia complementation group I +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | 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 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Fanconi anemia +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Fanconi anemia complementation group I +2 more | |
| | | Single nucleotide variant (synonymous variant) | Fanconi anemia +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Fanconi anemia +1 more | |
| | | Single nucleotide variant (missense variant) | Fanconi anemia +2 more | |
| | | Single nucleotide variant (missense variant) | Fanconi anemia +3 more | |
| | | Single nucleotide variant (missense variant) | Fanconi anemia +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | FANCI, POLG +1 more (Q1236H) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +12 more | |
| | FANCI, POLG +1 more (S1235R) | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | FANCI, POLG +1 more (E1143G) | Single nucleotide variant (missense variant) | Mitochondrial disease | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +6 more | |