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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HFE, HFE-AS1
(H63D +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Hemochromatosis type 1
+9 more
GPathogenic/Likely pathogenic/Pathogenic, low penetrance; other
HFE, HFE-AS1
(S65C +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Alzheimer disease type 1
+10 more
GConflicting classifications of pathogenicity
HFE
(E168* +2 more)
Single nucleotide variant
(nonsense +1 more)
Hereditary hemochromatosis
GPathogenic
HFE
(W169* +2 more)
Single nucleotide variant
(nonsense +1 more)
Hemochromatosis type 1
Gnot provided
HFE
(C282Y +8 more)
Single nucleotide variant
(missense variant +1 more)
Alzheimer disease type 1
+20 more
GPathogenic/Pathogenic, low penetrance; other; risk factor
HFE
Single nucleotide variant
(splice donor variant)
not provided
+7 more
GPathogenic/Likely pathogenic
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