| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | FANCB, GLRA2 (F281L +1 more) | Single nucleotide variant (missense variant) | Intellectual developmental disorder, X-linked, syndromic, Pilorge type | |
| | | Single nucleotide variant (nonsense) | Fanconi anemia complementation group B +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene