| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | SNRPE-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | SNRPE-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | SNRPE-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | SNRPE-related disorder | |
Click to view in NCBI Gene