| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Abnormality of the face +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant +1 more) | ABCC9-Related Disorders +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | not provided +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene