| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | VACTERL association, X-linked, with or without hydrocephalus +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | VACTERL association, X-linked, with or without hydrocephalus +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Fanconi anemia +5 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene