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Items: 3

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
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