| | | Single nucleotide variant (3 prime UTR variant) | Aplastic anemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Aplastic anemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Aplastic anemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Aplastic anemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Aplastic anemia | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aplastic anemia | |
| | | Microsatellite (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aplastic anemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Aplastic anemia | |
| | | Single nucleotide variant (missense variant) | Aplastic anemia | |
| | | Single nucleotide variant (nonsense) | Aplastic anemia | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (frameshift variant) | Immunodeficiency 69 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Aplastic anemia | |
| | | Single nucleotide variant (intron variant) | Aplastic anemia | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | Tsc2 angiomyolipomas, renal, modifier of +1 more | |
| | | Single nucleotide variant (intron variant) | Mycobacterium tuberculosis, protection against | |
| | | Single nucleotide variant (intron variant) | Aplastic anemia | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Aplastic anemia | |
| | | Single nucleotide variant (5 prime UTR variant) | Aplastic anemia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Aplastic anemia | |
| | | Single nucleotide variant (5 prime UTR variant) | Aplastic anemia | |
| | | Single nucleotide variant | Acquired immunodeficiency syndrome, rapid progression to | |
| | | Single nucleotide variant | Hepatitis C virus infection, response to therapy of | |