Links from MedGen
Items: 2
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr16:70185757-70416579
| AARS1, CLEC18C, DDX19A, DDX19B, EXOSC6, LOC400541, PDPR, ST3GAL2 | | Abnormal peripheral nervous system morphology | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr6:26093141
- GRCh38:
- Chr6:26092913
| HFE | C282Y, C176Y, C180Y, C190Y, C194Y, C259Y, C268Y, C102Y, C279Y | HFE-related condition, Hemochromatosis type 1, HFE-related disorder,
Hemochromatosis type 2, Alzheimer disease type 1, Microvascular complications of diabetes, susceptibility to, 7,
Variegate porphyria, Familial porphyria cutanea tarda, Hemochromatosis type 1,
Transferrin serum level quantitative trait locus 2, Peripheral neuropathyAtypical behavior,
Abnormality of the male genitalia, Pain, Abnormal peripheral nervous system morphology,
Abnormality of the nervous system, Abdominal pain, Hereditary hemochromatosis,
Inborn genetic diseases, Hereditary cancer-predisposing syndrome, not provided,
Cardiomyopathy, Porphyrinuria, Cutaneous photosensitivity,
...see more | Conflicting interpretations of pathogenicity; other; risk factor
(Oct 13, 2023) | criteria provided, conflicting interpretations |