| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, Strudwick type +7 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II +14 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Stickler syndrome, type I, nonsyndromic ocular | |
| | | Single nucleotide variant (nonsense) | Stickler syndrome type 1 +14 more | |
| | | Single nucleotide variant (missense variant) | Stickler syndrome, type I, nonsyndromic ocular +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Acetabular dysplasia +4 more | |
| | | Single nucleotide variant (splice acceptor variant) | Stickler syndrome type 1 | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | COL2A1-related condition +2 more | |
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