| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | C17orf80, CPSF4L (D601N +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CPSF4L, C17orf80 (G555S +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
Click to view in NCBI Gene