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Links from MedGen

Items: 41

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPIA
(R227*)
Single nucleotide variant
(nonsense)
Deficiency of ribose-5-phosphate isomerase
GPathogenic
RPIA
(R151*)
Single nucleotide variant
(nonsense)
Deficiency of ribose-5-phosphate isomerase
+1 more
GPathogenic
RPIA
(I257T)
Single nucleotide variant
(missense variant)
Deficiency of ribose-5-phosphate isomerase
GLikely pathogenic
RPIA
Single nucleotide variant
(intron variant)
Deficiency of ribose-5-phosphate isomerase
GUncertain significance
RPIA
(A85T)
Single nucleotide variant
(missense variant)
Deficiency of ribose-5-phosphate isomerase
GLikely pathogenic
RPIA
Single nucleotide variant
(splice acceptor variant)
Deficiency of ribose-5-phosphate isomerase
GPathogenic
RPIA
(R264W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
RPIA
Single nucleotide variant
(synonymous variant)
Deficiency of ribose-5-phosphate isomerase
+1 more
GConflicting classifications of pathogenicity
RPIA
(D148G)
Single nucleotide variant
(missense variant)
Deficiency of ribose-5-phosphate isomerase
GUncertain significance
LOC129934277, RPIA
Single nucleotide variant
(synonymous variant)
Deficiency of ribose-5-phosphate isomerase
GUncertain significance
LOC129934277, RPIA
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC129934277, RPIA
(Q2R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC129934277, RPIA
Single nucleotide variant
(5 prime UTR variant)
Deficiency of ribose-5-phosphate isomerase
GUncertain significance
RPIA
Single nucleotide variant
(3 prime UTR variant)
Deficiency of ribose-5-phosphate isomerase
GUncertain significance
RPIA
Single nucleotide variant
(3 prime UTR variant)
Deficiency of ribose-5-phosphate isomerase
GUncertain significance
RPIA
Single nucleotide variant
(3 prime UTR variant)
Deficiency of ribose-5-phosphate isomerase
GUncertain significance
RPIA
Single nucleotide variant
(3 prime UTR variant)
Deficiency of ribose-5-phosphate isomerase
GUncertain significance
RPIA
Single nucleotide variant
(3 prime UTR variant)
Deficiency of ribose-5-phosphate isomerase
GUncertain significance
RPIA
Single nucleotide variant
(3 prime UTR variant)
Deficiency of ribose-5-phosphate isomerase
GUncertain significance
RPIA
Single nucleotide variant
(3 prime UTR variant)
Deficiency of ribose-5-phosphate isomerase
GLikely benign
RPIA
Single nucleotide variant
(3 prime UTR variant)
Deficiency of ribose-5-phosphate isomerase
GUncertain significance
RPIA
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GUncertain significance
RPIA
(W209C)
Single nucleotide variant
(missense variant)
Deficiency of ribose-5-phosphate isomerase
GPathogenic
RPIA
Single nucleotide variant
(3 prime UTR variant)
Deficiency of ribose-5-phosphate isomerase
GUncertain significance
RPIA
Single nucleotide variant
(3 prime UTR variant)
Deficiency of ribose-5-phosphate isomerase
GUncertain significance
RPIA
Microsatellite
(3 prime UTR variant)
Deficiency of ribose-5-phosphate isomerase
GLikely benign
RPIA
Single nucleotide variant
(3 prime UTR variant)
Deficiency of ribose-5-phosphate isomerase
+1 more
GBenign
RPIA
Deletion
(3 prime UTR variant)
not provided
+1 more
GUncertain significance
RPIA
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GUncertain significance
RPIA
Single nucleotide variant
(3 prime UTR variant)
Deficiency of ribose-5-phosphate isomerase
GUncertain significance
RPIA
Single nucleotide variant
(synonymous variant)
Deficiency of ribose-5-phosphate isomerase
+1 more
GBenign
RPIA
Deletion
(intron variant)
Deficiency of ribose-5-phosphate isomerase
GUncertain significance
RPIA
(V236M)
Single nucleotide variant
(missense variant)
Deficiency of ribose-5-phosphate isomerase
+1 more
GUncertain significance
RPIA
Single nucleotide variant
(synonymous variant)
Deficiency of ribose-5-phosphate isomerase
+1 more
GBenign
RPIA
Single nucleotide variant
(intron variant)
Deficiency of ribose-5-phosphate isomerase
GUncertain significance
RPIA
Single nucleotide variant
(intron variant)
Deficiency of ribose-5-phosphate isomerase
GUncertain significance
RPIA
(V165I)
Single nucleotide variant
(missense variant)
Deficiency of ribose-5-phosphate isomerase
GUncertain significance
RPIA
(S73C)
Single nucleotide variant
(missense variant)
Deficiency of ribose-5-phosphate isomerase
GUncertain significance
LOC129934277, RPIA
(P19T)
Single nucleotide variant
(missense variant)
Deficiency of ribose-5-phosphate isomerase
GUncertain significance
RPIA
(A135V)
Single nucleotide variant
(missense variant)
Deficiency of ribose-5-phosphate isomerase
GPathogenic
RPIA
(N255fs)
Deletion
(frameshift variant)
Deficiency of ribose-5-phosphate isomerase
GPathogenic
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