|HAMP Q54K||insufficiently evaluated not reviewed||unknown|
|HAMP R56X||insufficiently evaluated pathogenic||unknown||
(20 web hits)
|HAMP G71D||uncertain pathogenic, f=0.002||recessive|| |
In a study from a small family (parent & two children), this variant was reported to have a modifier effect on hereditary haemochromatosis, increasing the severity of iron overload. Individuals were also homozygous or heterozygous for HFE C282Y. The variant was seen heterozygously in three of 1022 control chromosomes.
(68 web hits)
|HAMP T84A||insufficiently evaluated none||unknown|
|Total results: 4|