GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
HFE R6Sinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D03 from PGP sample 27486199
HFE H40Dinsufficiently evaluated pharmacogeneticunknown

(11 web hits)

HFE V53Minsufficiently evaluated pathogenic, f=0.000unknown

(90 web hits)

HFE V59Minsufficiently evaluated pathogenicunknown

(92 web hits)

HFE H63Duncertain pathogenic, f=0.110recessive

There have been some hypotheses that this variant contributes to causing hereditary hemochromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles.

(43200 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS000006909
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_D01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
HFE S65Cuncertain pathogenic, f=0.010recessive

A “mild” variant which may cause a very small increased risk of iron overload (hereditary hemachromatosis).

(2500 web hits)

HFE G93Rinsufficiently evaluated pathogenicunknown

(179 web hits)

HFE C102Yinsufficiently evaluated pharmacogeneticunknown

(1 web hit)

HFE I105Tinsufficiently evaluated pathogenicunknown

(168 web hits)

HFE Q127Hinsufficiently evaluated pathogenicunknown

(97 web hits)

HFE E168Qinsufficiently evaluated not reviewed, f=0.000unknown

(71 web hits)

HFE E168Xinsufficiently evaluated not reviewedunknown

(134 web hits)

HFE W169Xinsufficiently evaluated not reviewedunknown

(67 web hits)

HFE C176Yinsufficiently evaluated noneunknown
HFE C180Yinsufficiently evaluated noneunknown
HFE C190Yinsufficiently evaluated noneunknown
HFE C194Yinsufficiently evaluated noneunknown

(2 web hits)

HFE C259Yinsufficiently evaluated noneunknown
HFE C268Yinsufficiently evaluated noneunknown
HFE C282Yuncertain pathogenic, f=0.049recessive

This variant is associated with hereditary haemochromatosis, 80% of patients with that disease are homozygous for this variant. However, the penetrance is low, in Beutler et al. they note that only 1 of their 158 homozygotes met criteria for diagnosis with the condition.

(67300 web hits)

CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01173-DNA_B07 from PGP sample 61499538
HFE Q283Pinsufficiently evaluated pathogenicunknown

(123 web hits)

HFE R330Minsufficiently evaluated pathogenicunknown

(23 web hits)

HFE2 A84Ginsufficiently evaluated noneunknown
HFE2 A197Ginsufficiently evaluated noneunknown
HFE2 A310Ginsufficiently evaluated none, f=0.025unknown

(6 web hits)

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Total results: 25

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