| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Sacral defect with anterior meningocele +3 more | |
| | | Single nucleotide variant (missense variant) | Neural tube defect +18 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Catecholaminergic polymorphic ventricular tachycardia 2 +7 more | |
Click to view in NCBI Gene