| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Duplication (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Fanconi anemia +3 more | |
| | | Deletion (frameshift variant) | Spermatogenic failure 28 | |
| | | Single nucleotide variant (nonsense) | Fanconi anemia, complementation group M | |
| | | Single nucleotide variant (nonsense) | Fanconi anemia +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (genic downstream transcript variant +1 more) | Fanconi anemia, complementation group M | |
| | | Single nucleotide variant (genic downstream transcript variant +1 more) | Spermatogenic failure 28 | |
| | | Single nucleotide variant (nonsense) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Hereditary nonpolyposis colorectal carcinoma +5 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene