| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (non-coding transcript variant +1 more) | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | SPATA5L1-associated disorder +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | See cases | |
Click to view in NCBI Gene