| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | SRPRA-related disorder +1 more | |
| | | Microsatellite (intron variant) | SRPRA-related disorder | |
| | | Deletion (inframe_indel) | SRPRA-related disorder | |
| | | Single nucleotide variant (synonymous variant) | SRPRA-related disorder | |
Click to view in NCBI Gene