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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HFE, HFE-AS1
(R6S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary hemochromatosis
+7 more
GUncertain significance
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
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
HFE
(E277K +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
HFE
(C282Y +8 more)
Single nucleotide variant
(missense variant +1 more)
Hemochromatosis type 1
+20 more
GPathogenic/Pathogenic, low penetrance; other; risk factor
HFE
(V295A +8 more)
Single nucleotide variant
(missense variant +1 more)
Hemochromatosis type 1
+2 more
GConflicting classifications of pathogenicity
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