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Links from MedGen

Items: 74

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GPI
Deletion
Hemolytic anemia due to glucophosphate isomerase deficiency
GPathogenic
GPI
(T337I +3 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GUncertain significance
GPI
Single nucleotide variant
(intron variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GLikely benign
GPI
(R120W +1 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GUncertain significance
GPI
(R6W +1 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GUncertain significance
GPI
Single nucleotide variant
(intron variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GLikely benign
GPI
(V290fs +3 more)
Duplication
(frameshift variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GLikely pathogenic
GPI
(V472fs +4 more)
Deletion
(frameshift variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GLikely pathogenic
GPI
(G333R +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
(V103M +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
(S504G +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
GPI
Deletion
(splice donor variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GLikely pathogenic
GPI
(Q385R +3 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GUncertain significance
GPI
Single nucleotide variant
(splice donor variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GLikely pathogenic
GPI
(R444H +4 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GPathogenic
GPI
(Y313C +3 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
(S270A +3 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GUncertain significance
GPI
(D31H +1 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
(A212V +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
(P428A +4 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
+1 more
GConflicting classifications of pathogenicity
GPI
(Q267H +3 more)
Single nucleotide variant
(missense variant)
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
(R135Q +1 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
(A204V +3 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
+1 more
GConflicting classifications of pathogenicity
GPI
(G243fs +3 more)
Deletion
(frameshift variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GLikely pathogenic
GPI
(V101M +1 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GPathogenic
GPI
(A512T +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GPI
(E354* +3 more)
Single nucleotide variant
(nonsense)
Hemolytic anemia due to glucophosphate isomerase deficiency
GPathogenic
GPI
(A3T)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GUncertain significance
GPI
(R319C +3 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
+1 more
GPathogenic
GPI
(A376T +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
GPI
Duplication
(intron variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GBenign
GPI
Single nucleotide variant
(synonymous variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GLikely benign
GPI
(T414M +4 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
+1 more
GUncertain significance
GPI
Deletion
(intron variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GLikely benign
GPI
(K522E +4 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GLikely pathogenic
GPI
(E121fs +1 more)
Deletion
(frameshift variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
+1 more
GPathogenic
GPI
(E266K +3 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GUncertain significance
GPI
(R444C +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
GPI
(H510Q +4 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GUncertain significance
GPI
(F185I +3 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GUncertain significance
GPI
(R135* +1 more)
Single nucleotide variant
(nonsense)
Hemolytic anemia due to glucophosphate isomerase deficiency
+1 more
GPathogenic
GPI
(S571T +4 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GUncertain significance
GPI
(V491I +4 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
+1 more
GUncertain significance
GPI
(T214A +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GPI
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GPI
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
GPI
Single nucleotide variant
(5 prime UTR variant +1 more)
Hemolytic anemia due to glucophosphate isomerase deficiency
GUncertain significance
GPI
(H163R +3 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GUncertain significance
GPI
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
GPI
Single nucleotide variant
(synonymous variant)
GPI-related disorder
+2 more
GBenign
GPI
Single nucleotide variant
(synonymous variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
+1 more
GBenign/Likely benign
GPI
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
GPI
(M303L +3 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
+3 more
GConflicting classifications of pathogenicity
GPI
(R106Q +1 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
+1 more
GConflicting classifications of pathogenicity
GPI
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
GPI
(R446* +4 more)
Single nucleotide variant
(nonsense)
Hemolytic anemia due to glucophosphate isomerase deficiency
GPathogenic/Likely pathogenic
GPI
Single nucleotide variant
(synonymous variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
+1 more
GBenign
GPI
(I208T +3 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
+3 more
GBenign/Likely benign
GPI
Single nucleotide variant
(synonymous variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
+2 more
GBenign
GPI
(T375R +3 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GPathogenic
GPI
(T5I +1 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GPathogenic
GPI
(Q343R +3 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
GPathogenic
GPI
(T224M +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GPI
(D539N +4 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GPI
(I525T +4 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
+1 more
GConflicting classifications of pathogenicity
GPI
(R347H +3 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
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