| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC125446261, MLC1 (M80I +1 more) | Single nucleotide variant (missense variant +3 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene