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Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GPI
(H78R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
GPI
(V77M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPI
(R135H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GPI
(G139S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GPI
(P136L +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPI
(V220I +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GPI
(I180V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPI
(T215I +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPI
(I191M +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPI
(E199V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPI
(A204V +3 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
+2 more
GConflicting classifications of pathogenicity
GPI
(Q261E +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPI
(R312G +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPI
(D330V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPI
(H312Y +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPI
(M303L +3 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
+2 more
GConflicting classifications of pathogenicity
GPI
(R280H +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
GPI
(T320M +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GPI
(L291V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPI
(M349V +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPI
(A322T +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GPI
(R409C +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPI
(R381H +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GPI
(S480L +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPI
(T414M +4 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
+1 more
GUncertain significance
GPI
(K438T +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
GPI
(I449M +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GPI
(M504I +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPI
(K562T +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPI
(I525T +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
GPI
(S504G +4 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to glucophosphate isomerase deficiency
+1 more
GUncertain significance
GPI
(A544S +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
GPI
(R595S +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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