Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130065793, RAB5IF
+1 more (W25*) | Single nucleotide variant (nonsense +2 more) | Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 +11 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | See cases +7 more | |
| | | Single nucleotide variant (missense variant) | Primary ciliary dyskinesia +10 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene