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Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GPI
(D31H +1 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GUncertain significance
GPI
(V103M +1 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GUncertain significance
GPI
(E121fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
GPI
(R135Q +1 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GUncertain significance
GPI
(S138N +1 more)
Single nucleotide variant
(missense variant +1 more)
Hemolytic anemia due to glucophosphate isomerase deficiency
GUncertain significance
GPI
(D140N +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
(A204V +3 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
+1 more
GConflicting classifications of pathogenicity
GPI
(A212V +3 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GUncertain significance
GPI
(W241R +3 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GUncertain significance
GPI
(S250L +3 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GUncertain significance
GPI
(I256T +3 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GUncertain significance
GPI
(Q267H +3 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GUncertain significance
GPI
(S270A +3 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GUncertain significance
GPI
(T320M +3 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
+1 more
GUncertain significance
GPI
(V290fs +3 more)
Duplication
(frameshift variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GLikely pathogenic
GPI
(Y313C +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GPI
(R347H +3 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GPathogenic
GPI
(G333R +3 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GUncertain significance
GPI
(T414M +4 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
+1 more
GUncertain significance
GPI
(R446* +4 more)
Single nucleotide variant
(nonsense)
Hemolytic anemia due to glucophosphate isomerase deficiency
GPathogenic/Likely pathogenic
GPI
(P428A +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GPI
(R444H +4 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GPathogenic
GPI
(V472fs +4 more)
Deletion
(frameshift variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GLikely pathogenic
GPI
(V491I +4 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
+1 more
GUncertain significance
GPI
(S504G +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
GPI
(A512T +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GPI
(N519S +4 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GUncertain significance
GPI
(K522E +4 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GLikely pathogenic
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