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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GPI
(T5I +1 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GPathogenic
GPI
(G159S +1 more)
Single nucleotide variant
(missense variant +1 more)
Hemolytic anemia due to glucophosphate isomerase deficiency
GUncertain significance
GPI
(T224M +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GPI
(Q343R +3 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GPathogenic
GPI
(R347H +3 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GPathogenic
GPI
(T375R +3 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GPathogenic
GPI
(I525T +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPI
(D539N +4 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
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