| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Catel-Manzke syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Catel-Manzke syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene