| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Visceral myopathy 1 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Visceral myopathy 1 +2 more | |
| | | Single nucleotide variant (intron variant) | Visceral myopathy 1 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 +2 more | |
Click to view in NCBI Gene