| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Singleton-Merten syndrome 2 +1 more | |
| | | Duplication (intron variant) | Singleton-Merten syndrome 2 | |
| | | Duplication (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
Click to view in NCBI Gene