| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II +3 more | |
| | | Single nucleotide variant (missense variant) | Stickler syndrome type 1 +2 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | | Duplication (frameshift variant) | Achondrogenesis type II | |
| | | Single nucleotide variant (intron variant) | Achondrogenesis type II +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypoplastic acetabulae +6 more | |
| | | Single nucleotide variant (missense variant) | Stickler syndrome, type I, nonsyndromic ocular +5 more | GPathogenic/Likely pathogenic |
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