| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Snijders Blok-Campeau syndrome | |
| | | Single nucleotide variant (missense variant) | Snijders Blok-Campeau syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Snijders Blok-Campeau syndrome +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene