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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HJV
(E189K +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HJV
(V74fs)
Deletion
(frameshift variant +2 more)
not provided
+1 more
GPathogenic
HJV
(R63*)
Single nucleotide variant
(nonsense +2 more)
Hemochromatosis type 2A
GPathogenic/Likely pathogenic
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