| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Fraser syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Fraser syndrome 3 | |
| | | Insertion (splice acceptor variant) | Fraser syndrome 3 | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | PTCH1-related condition +2 more | |
| | | Single nucleotide variant (missense variant) | Fraser syndrome 3 | |
| | | Single nucleotide variant (nonsense) | Fraser syndrome 3 | |
| | | Single nucleotide variant (missense variant) | Fraser syndrome 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Fraser syndrome 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Fraser syndrome 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Spongy degeneration of central nervous system +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 4 | |
| | | Single nucleotide variant (missense variant) | Fraser syndrome 3 | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Fraser syndrome 3 | |
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