Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion | Pseudoxanthoma elasticum | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive inherited pseudoxanthoma elasticum | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive inherited pseudoxanthoma elasticum | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive inherited pseudoxanthoma elasticum +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Pseudoxanthoma elasticum, forme fruste +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene