| | | Single nucleotide variant (missense variant +1 more) | Dyskeratosis congenita, autosomal dominant 2 +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | Aplastic anemia +7 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dyskeratosis congenita, autosomal dominant 2 +8 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Dyskeratosis congenita, autosomal dominant 2 +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | Idiopathic Pulmonary Fibrosis +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Dyskeratosis congenita, autosomal dominant 2 +11 more | |
| | | Duplication (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Thrombocytopenia 5 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | KRAS-related condition +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Linear nevus sebaceous syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Acute myeloid leukemia | |
| | | Single nucleotide variant (nonsense) | Acute myeloid leukemia | |
| | | Insertion (5 prime UTR variant +1 more) | Acute myeloid leukemia | |
| | | Deletion (5 prime UTR variant +1 more) | Acute myeloid leukemia | |
| | | Deletion (frameshift variant +1 more) | Acute myeloid leukemia | |
| | | Deletion (frameshift variant +1 more) | Acute myeloid leukemia | |
| | | Deletion (frameshift variant +1 more) | Acute myeloid leukemia | |
| | | Duplication (frameshift variant +1 more) | not provided +1 more | |
| | | Deletion (5 prime UTR variant +1 more) | Acute myeloid leukemia | |