| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Fraser syndrome 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Fraser syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Fraser syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Fraser syndrome 1 | |
Click to view in NCBI Gene