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Links from MedGen

Items: 68

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TPI1
(G11fs +1 more)
Deletion
(frameshift variant)
Triosephosphate isomerase deficiency
GLikely pathogenic
TPI1
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
TPI1
(R53Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Triosephosphate isomerase deficiency
GUncertain significance
TPI1
(T113S +1 more)
Single nucleotide variant
(missense variant +1 more)
Triosephosphate isomerase deficiency
GUncertain significance
TPI1
(A61V +1 more)
Single nucleotide variant
(missense variant +1 more)
Triosephosphate isomerase deficiency
GUncertain significance
TPI1
(W13R +1 more)
Single nucleotide variant
(missense variant)
Triosephosphate isomerase deficiency
GUncertain significance
TPI1
(K160E +2 more)
Single nucleotide variant
(missense variant)
Triosephosphate isomerase deficiency
GUncertain significance
TPI1
(I151M +2 more)
Single nucleotide variant
(missense variant)
Triosephosphate isomerase deficiency
GUncertain significance
TPI1
(P143T +2 more)
Single nucleotide variant
(missense variant)
Triosephosphate isomerase deficiency
GUncertain significance
TPI1
(A137P +2 more)
Single nucleotide variant
(missense variant)
Triosephosphate isomerase deficiency
GUncertain significance
TPI1
Single nucleotide variant
(splice acceptor variant)
Triosephosphate isomerase deficiency
GLikely pathogenic
TPI1
(V155M +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TPI1
(V150M +2 more)
Single nucleotide variant
(missense variant)
Triosephosphate isomerase deficiency
GUncertain significance
TPI1
(I281V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TPI1
(T28S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TPI1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
TPI1
(I128T +2 more)
Single nucleotide variant
(missense variant)
Triosephosphate isomerase deficiency
GUncertain significance
TPI1
Single nucleotide variant
(synonymous variant)
Triosephosphate isomerase deficiency
GLikely benign
TPI1
(H11Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPI1
Single nucleotide variant
(3 prime UTR variant)
Triosephosphate isomerase deficiency
GBenign
TPI1
Single nucleotide variant
(3 prime UTR variant)
Triosephosphate isomerase deficiency
GUncertain significance
TPI1
Single nucleotide variant
(3 prime UTR variant)
Triosephosphate isomerase deficiency
GUncertain significance
TPI1
Single nucleotide variant
(5 prime UTR variant +1 more)
Triosephosphate isomerase deficiency
GLikely benign
TPI1
Single nucleotide variant
(3 prime UTR variant)
Triosephosphate isomerase deficiency
GUncertain significance
TPI1
Single nucleotide variant
(3 prime UTR variant)
Triosephosphate isomerase deficiency
GUncertain significance
TPI1
Single nucleotide variant
(3 prime UTR variant)
Triosephosphate isomerase deficiency
GBenign
TPI1
(N283S +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TPI1
(A200V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TPI1
Single nucleotide variant
(synonymous variant)
Triosephosphate isomerase deficiency
+1 more
GConflicting classifications of pathogenicity
TPI1
Single nucleotide variant
(3 prime UTR variant)
Triosephosphate isomerase deficiency
GLikely benign
TPI1
Single nucleotide variant
(3 prime UTR variant)
Triosephosphate isomerase deficiency
GUncertain significance
TPI1
Single nucleotide variant
(3 prime UTR variant)
Triosephosphate isomerase deficiency
GLikely benign
TPI1
Single nucleotide variant
(synonymous variant +1 more)
Triosephosphate isomerase deficiency
+1 more
GConflicting classifications of pathogenicity
TPI1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
TPI1
(M1V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TPI1
(I17R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPI1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPI1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
TPI1
(R206H +2 more)
Single nucleotide variant
(missense variant)
Triosephosphate isomerase deficiency
GUncertain significance
TPI1
(R190Q +2 more)
Single nucleotide variant
(missense variant)
Triosephosphate isomerase deficiency
GUncertain significance
TPI1
(V150F +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TPI1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
TPI1
Single nucleotide variant
(synonymous variant)
Triosephosphate isomerase deficiency
GBenign/Likely benign
TPI1
Deletion
(3 prime UTR variant)
Triosephosphate isomerase deficiency
GUncertain significance
TPI1
Duplication
(3 prime UTR variant)
Triosephosphate isomerase deficiency
GUncertain significance
TPI1
Single nucleotide variant
(3 prime UTR variant)
Triosephosphate isomerase deficiency
GBenign
TPI1
Single nucleotide variant
(3 prime UTR variant)
Triosephosphate isomerase deficiency
GBenign
TPI1
Single nucleotide variant
(3 prime UTR variant)
Triosephosphate isomerase deficiency
GUncertain significance
TPI1
Single nucleotide variant
(3 prime UTR variant)
Triosephosphate isomerase deficiency
GUncertain significance
TPI1
Single nucleotide variant
(3 prime UTR variant)
Triosephosphate isomerase deficiency
GLikely benign
TPI1
Single nucleotide variant
(3 prime UTR variant)
Triosephosphate isomerase deficiency
GUncertain significance
TPI1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TPI1
Single nucleotide variant
(intron variant)
Triosephosphate isomerase deficiency
+1 more
GBenign
TPI1
Single nucleotide variant
(intron variant)
Triosephosphate isomerase deficiency
+1 more
GBenign
TPI1
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
TPI1
Single nucleotide variant
(intron variant)
Triosephosphate isomerase deficiency
+1 more
GConflicting classifications of pathogenicity
TPI1
Single nucleotide variant
(synonymous variant)
TPI1-related disorder
+2 more
GBenign
TPI1
Single nucleotide variant
(synonymous variant)
TPI1-related disorder
+1 more
GConflicting classifications of pathogenicity
TPI1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPI1
(G34D)
Single nucleotide variant
(5 prime UTR variant +1 more)
Triosephosphate isomerase deficiency
GUncertain significance
TPI1
(T28I)
Single nucleotide variant
(5 prime UTR variant +1 more)
Triosephosphate isomerase deficiency
GUncertain significance
TPI1
(N12fs +1 more)
Duplication
(frameshift variant)
Triosephosphate isomerase deficiency
GPathogenic
TPI1
(F241S +2 more)
Single nucleotide variant
(missense variant)
Triosephosphate isomerase deficiency
GPathogenic
TPI1
(E146* +2 more)
Single nucleotide variant
(nonsense)
Triosephosphate isomerase deficiency
GPathogenic
TPI1
(I171V +2 more)
Single nucleotide variant
(missense variant)
Triosephosphate isomerase deficiency
GPathogenic
TPI1
(C42Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Triosephosphate isomerase deficiency
GPathogenic
TPI1
(F159L +2 more)
Single nucleotide variant
(missense variant)
Triosephosphate isomerase deficiency
GPathogenic
TPI1
(E142D +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
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