| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOX, SRFBP1 (S348R +2 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | LOX, SRFBP1 (S247R +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | LOX, SRFBP1 (C14fs +1 more) | Deletion (frameshift variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
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