| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | not provided +3 more | |
| | | Single nucleotide variant (nonsense +1 more) | Autosomal recessive inherited pseudoxanthoma elasticum | |
| | | Single nucleotide variant (nonsense +1 more) | Autosomal recessive inherited pseudoxanthoma elasticum +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Arterial calcification, generalized, of infancy, 2 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Autosomal recessive inherited pseudoxanthoma elasticum | |
Click to view in NCBI Gene