| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Fanconi anemia complementation group L +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not specified +4 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | VACTERL association, X-linked, with or without hydrocephalus +1 more | |
Click to view in NCBI Gene