Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | | Deletion (inframe_deletion) | Familial type 5 hyperlipoproteinemia | |
| | APOA5, LOC108491825 (R40fs) | Deletion (frameshift variant) | Familial type 5 hyperlipoproteinemia | |
| | | Single nucleotide variant (missense variant) | Hypertriglyceridemia 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial type 5 hyperlipoproteinemia +1 more | |
| | | Deletion (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Hypertriglyceridemia 1 +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Familial type 5 hyperlipoproteinemia | |
| | | Microsatellite (frameshift variant) | Hypertriglyceridemia 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Hypertriglyceridemia 1 +4 more | |
| | | Single nucleotide variant (nonsense) | Familial type 5 hyperlipoproteinemia | |
| | APOA5, LOC108491825 (S19W) | Single nucleotide variant (missense variant) | Cardiovascular phenotype +4 more | |
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