| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Namaqualand hip dysplasia +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Spondyloperipheral dysplasia +14 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Stickler syndrome type 1 | |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Stickler syndrome, type I, nonsyndromic ocular +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Stickler syndrome type 1 | |
| | | Deletion (frameshift variant) | Stickler syndrome type 1 | |
Click to view in NCBI Gene