| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Melnick-Fraser syndrome +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Melnick-Fraser syndrome | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Melnick-Fraser syndrome +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene