| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | ABCC6-related condition +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | ABCC6-related condition +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Pseudoxanthoma elasticum, forme fruste | |
Click to view in NCBI Gene