- The following term was not found in ClinVar: Arabinose.
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Catecholaminergic polymorphic ventricular tachycardia 1 +3 more | |
| | | Single nucleotide variant (intron variant) | Cardiovascular phenotype +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal dominant hypocalcemia 1 +5 more | |
| | | Microsatellite (inframe_deletion) | not provided +1 more | |
| | ANK2, LOC126807137 (R2506Q +4 more) | Single nucleotide variant (missense variant +1 more) | Long QT syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Long QT syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cowden syndrome 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Cowden syndrome 1 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Bleeding disorder, platelet-type, 13, susceptibility to | |
Click to view in NCBI Gene