| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant) | Neu-Laxova syndrome 2 +2 more | |
| | | Single nucleotide variant (synonymous variant) | PSAT deficiency +2 more | |
| | | Single nucleotide variant (intron variant) | Neu-Laxova syndrome 2 +2 more | |
| | | Single nucleotide variant (intron variant) | Neu-Laxova syndrome 2 +2 more | |
Click to view in NCBI Gene