| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | RAB5IF, TGIF2-RAB5IF (L120M) | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | LOC130065793, RAB5IF
+1 more (D37N) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | 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 |
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