| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
Click to view in NCBI Gene