| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | COL9A2, LOC129930257 (P113S) | Single nucleotide variant (missense variant) | not provided | |
| | COL9A2, LOC129930257 (L112R) | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
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