| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Acromesomelic dysplasia 2B +1 more | |
| | | Single nucleotide variant (missense variant) | Brachydactyly type A1D +3 more | |
| | ANK2, LOC126807137 (V2651L +4 more) | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene