Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Alzheimer disease type 1 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant) | Microvascular complications of diabetes, susceptibility to, 7 +6 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Variegate porphyria +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hemochromatosis type 1 +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary hemochromatosis +6 more | |
| | | Deletion (frameshift variant +1 more) | Variegate porphyria +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary hemochromatosis +7 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hemochromatosis type 1 +7 more | |
| | HFE, HFE-AS1 (S65C +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Familial porphyria cutanea tarda +9 more | GConflicting classifications of pathogenicity |
| | HFE, HFE-AS1 (H63D +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Familial porphyria cutanea tarda +9 more | GPathogenic/Likely pathogenic/Pathogenic, low penetrance; other |
| | | Single nucleotide variant (missense variant +1 more) | Cardiomyopathy +19 more | GPathogenic/Pathogenic, low penetrance; other; risk factor |
Click to view in NCBI Gene