| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | SSH1-related disorder | |
| | LOC126861631, SSH1 (E263K +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126861631, SSH1 (R253H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
Click to view in NCBI Gene