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Items: 1 to 100 of 202

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GAPDH, GAU1
+477 more
Deletion
Tumoral calcinosis, hyperphosphatemic, familial, 1
Gnot provided
ACRBP, ADIPOR2
+348 more
Copy number gain
See cases
GPathogenic
TAS2R9, TEAD4
+1258 more
Copy number gain
See cases
GPathogenic
CLEC12A, CLEC12A-AS1
+1258 more
Copy number gain
See cases
GPathogenic
LOC126861410, LOC126861411
+1258 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+1009 more
Copy number gain
See cases
GPathogenic
LOC130007230, LOC130007231
+1257 more
Copy number gain
See cases
GPathogenic
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
LOC126861494, LOC126861495
+1257 more
Copy number gain
See cases
GPathogenic
CACNA1C-AS2, CACNA1C-AS4
+1242 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+853 more
Copy number gain
See cases
GPathogenic
LOC130007190, LOC130007191
+698 more
Copy number gain
See cases
GPathogenic
LOC130007275, LOC130007276
+97 more
Copy number loss
See cases
GPathogenic
TPI1
(H11Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPI1
(I17R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPI1
Single nucleotide variant
(synonymous variant)
Triosephosphate isomerase deficiency
+1 more
GBenign/Likely benign
TPI1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
TPI1
Single nucleotide variant
(5 prime UTR variant +1 more)
Triosephosphate isomerase deficiency
GLikely benign
TPI1
(T28S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Triosephosphate isomerase deficiency
+1 more
GConflicting classifications of pathogenicity
TPI1
(T28I)
Single nucleotide variant
(5 prime UTR variant +1 more)
Triosephosphate isomerase deficiency
GUncertain significance
TPI1
(G34D)
Single nucleotide variant
(5 prime UTR variant +1 more)
Triosephosphate isomerase deficiency
GUncertain significance
TPI1
(M1V +1 more)
Single nucleotide variant
(missense variant +1 more)
Triosephosphate isomerase deficiency
+1 more
GUncertain significance
TPI1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TPI1
(P40L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPI1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TPI1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TPI1
(N12fs +1 more)
Duplication
(frameshift variant)
Triosephosphate isomerase deficiency
GPathogenic
TPI1
(G11fs +1 more)
Deletion
(frameshift variant)
Triosephosphate isomerase deficiency
GLikely pathogenic
TPI1
(W13R +1 more)
Single nucleotide variant
(missense variant)
Triosephosphate isomerase deficiency
GUncertain significance
TPI1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TPI1
(G17R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPI1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TPI1
(L25F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPI1
(G27R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TPI1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TPI1
(P72A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPI1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC130007280, TPI1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
LOC130007280, TPI1
Deletion
(intron variant)
not provided
GBenign
LOC130007280, TPI1
Single nucleotide variant
(intron variant)
not provided
GBenign
TPI1
Single nucleotide variant
(intron variant)
Triosephosphate isomerase deficiency
+1 more
GBenign/Likely benign
TPI1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
TPI1
(C42Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Triosephosphate isomerase deficiency
GPathogenic
TPI1
(P44S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TPI1
(A52T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TPI1
(R53W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TPI1
(R53Q +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
Single nucleotide variant
(synonymous variant +1 more)
Triosephosphate isomerase deficiency
+1 more
GConflicting classifications of pathogenicity
TPI1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TPI1
(T113S +1 more)
Single nucleotide variant
(missense variant +1 more)
Triosephosphate isomerase deficiency
GUncertain significance
TPI1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPI1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TPI1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TPI1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TPI1
(M120T +2 more)
Single nucleotide variant
(missense variant +1 more)
TPI1-related disorder
GUncertain significance
TPI1
Single nucleotide variant
(synonymous variant)
Triosephosphate isomerase deficiency
GUncertain significance
TPI1
(A126T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPI1
(T8M +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TPI1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TPI1
(E98K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TPI1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TPI1
(E142D +2 more)
Single nucleotide variant
(missense variant)
Triosephosphate isomerase deficiency
+1 more
GPathogenic/Likely pathogenic
TPI1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
TPI1
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
TPI1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TPI1
Deletion
(intron variant)
not provided
GLikely benign
TPI1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TPI1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TPI1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TPI1
(G41fs +2 more)
Duplication
(frameshift variant)
not provided
GPathogenic
TPI1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPI1
(G123R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPI1
(A163T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPI1
(A44S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPI1
(I128T +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
(synonymous variant)
TPI1-related disorder
GLikely benign
TPI1
(K179N +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPI1
(F145I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPI1
(F182S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TPI1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TPI1
(E146* +2 more)
Single nucleotide variant
(nonsense)
Triosephosphate isomerase deficiency
GPathogenic
TPI1
(V150F +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TPI1
(I151M +2 more)
Single nucleotide variant
(missense variant)
Triosephosphate isomerase deficiency
GUncertain significance
TPI1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TPI1
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
TPI1
Deletion
(intron variant)
not provided
GConflicting classifications of pathogenicity
TPI1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TPI1
Deletion
(intron variant)
not provided
GLikely benign
TPI1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TPI1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TPI1
(V155M +2 more)
Single nucleotide variant
(missense variant)
Triosephosphate isomerase deficiency
+2 more
GConflicting classifications of pathogenicity
TPI1
(S77R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TPI1
(K160E +2 more)
Single nucleotide variant
(missense variant)
Triosephosphate isomerase deficiency
GUncertain significance
TPI1
(V199I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPI1
(A164D +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TPI1
(I171V +2 more)
Single nucleotide variant
(missense variant)
Triosephosphate isomerase deficiency
GPathogenic
TPI1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TPI1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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