| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | See cases +8 more | |
| | | Deletion (inframe_deletion) | Macrocephaly +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Macrocephaly +24 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial Mediterranean fever +13 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene