| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Meier-Gorlin syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Meier-Gorlin syndrome +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene