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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HK1
(R12*)
Single nucleotide variant
(nonsense +1 more)
Hemolytic anemia due to hexokinase deficiency
+1 more
GConflicting classifications of pathogenicity
HK1
(G420R +6 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to hexokinase deficiency
GLikely pathogenic