| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC126861631, SSH1 (R253H +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126861631, SSH1 (E263K +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
Click to view in NCBI Gene