- The following term was not found in ClinVar: Acosamine.
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Microsatellite (intron variant) | not specified +4 more | GConflicting classifications of pathogenicity; drug response; other |
| | | Deletion | Serotonin transporter activity, increased/decreased | |
| | GLA, RPL36A-HNRNPH2 (L341P) | Single nucleotide variant (missense variant +2 more) | Fabry disease +1 more | |
| | GLA, RPL36A-HNRNPH2 (I239T) | Single nucleotide variant (missense variant +2 more) | Cardiovascular phenotype +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene