| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | Lethal Kniest-like syndrome | |
| | | Single nucleotide variant (missense variant) | Schwartz-Jampel syndrome type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Schwartz-Jampel syndrome type 1 | |
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