| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Stickler syndrome type 1 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Connective tissue disorder +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene