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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HFE, HFE-AS1
(H63D +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+9 more
GPathogenic/Likely pathogenic/Pathogenic, low penetrance; other
HFE, HFE-AS1
(S65C +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+9 more
GConflicting classifications of pathogenicity
HFE, HFE-AS1
(R67L +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Hemochromatosis type 1
GUncertain significance
HFE
(E168Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary hemochromatosis
+7 more
GUncertain significance
HFE
(C282Y +8 more)
Single nucleotide variant
(missense variant +1 more)
HFE-related disorder
+19 more
GPathogenic/Pathogenic, low penetrance; other; risk factor
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