| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Progressive sclerosing poliodystrophy | |
| | | Duplication (3 prime UTR variant +1 more) | Progressive sclerosing poliodystrophy | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +12 more | |
Click to view in NCBI Gene