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Links from MedGen

Items: 1 to 100 of 122

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDHX
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3-binding protein deficiency
GUncertain significance
LOC130005549, PDHX
(R24*)
Single nucleotide variant
(nonsense +1 more)
Pyruvate dehydrogenase E3-binding protein deficiency
GLikely pathogenic
LOC130005549, PDHX
(L13P)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E3-binding protein deficiency
GUncertain significance
PDHX
(S204* +1 more)
Single nucleotide variant
(nonsense +1 more)
Pyruvate dehydrogenase E3-binding protein deficiency
GLikely pathogenic
PDHX
Deletion
Pyruvate dehydrogenase E3-binding protein deficiency
GLikely pathogenic
PDHX
(V278fs +1 more)
Duplication
(frameshift variant +1 more)
Pyruvate dehydrogenase E3-binding protein deficiency
GLikely pathogenic
PDHX
(T205A +1 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E3-binding protein deficiency
GUncertain significance
PDHX
(A38V +1 more)
Single nucleotide variant
(missense variant)
Pyruvate dehydrogenase E3-binding protein deficiency
GUncertain significance
PDHX
(S246T +2 more)
Single nucleotide variant
(missense variant)
Pyruvate dehydrogenase E3-binding protein deficiency
GUncertain significance
LOC130005549, PDHX
(G8A)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E3-binding protein deficiency
GUncertain significance
PDHX
(P126fs +1 more)
Deletion
(frameshift variant +1 more)
Pyruvate dehydrogenase E3-binding protein deficiency
GPathogenic/Likely pathogenic
PDHX
(T205I +1 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E3-binding protein deficiency
Gnot provided
PDHX
Deletion
Pyruvate dehydrogenase E3-binding protein deficiency
GLikely pathogenic
PDHX
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
PDHX
(R181Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PDHX
(I324V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PDHX
(V431A +2 more)
Single nucleotide variant
(missense variant)
Pyruvate dehydrogenase E3-binding protein deficiency
GLikely pathogenic
PDHX
(D402Y +2 more)
Single nucleotide variant
(missense variant)
Pyruvate dehydrogenase E3-binding protein deficiency
GUncertain significance
PDHX
(T257A +2 more)
Single nucleotide variant
(missense variant)
Pyruvate dehydrogenase E3-binding protein deficiency
GUncertain significance
PDHX
Single nucleotide variant
(synonymous variant)
Pyruvate dehydrogenase E3-binding protein deficiency
GUncertain significance
APIP, LOC130005547
+1 more
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3-binding protein deficiency
GLikely benign
PDHX
Single nucleotide variant
(3 prime UTR variant)
Pyruvate dehydrogenase E3-binding protein deficiency
GLikely benign
PDHX
Single nucleotide variant
(3 prime UTR variant)
Pyruvate dehydrogenase E3-binding protein deficiency
GUncertain significance
PDHX
Single nucleotide variant
(3 prime UTR variant)
Pyruvate dehydrogenase E3-binding protein deficiency
GUncertain significance
PDHX
(K314E +1 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E3-binding protein deficiency
GUncertain significance
LOC130005549, PDHX
(R12Q)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E3-binding protein deficiency
GUncertain significance
LOC130005549, PDHX
Single nucleotide variant
(5 prime UTR variant +1 more)
Pyruvate dehydrogenase E3-binding protein deficiency
GUncertain significance
PDHX
Single nucleotide variant
(3 prime UTR variant)
Pyruvate dehydrogenase E3-binding protein deficiency
GUncertain significance
PDHX
Single nucleotide variant
(3 prime UTR variant)
Pyruvate dehydrogenase E3-binding protein deficiency
GUncertain significance
PDHX
Single nucleotide variant
(3 prime UTR variant)
Pyruvate dehydrogenase E3-binding protein deficiency
GUncertain significance
PDHX
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3-binding protein deficiency
GUncertain significance
PDHX
Single nucleotide variant
(synonymous variant +1 more)
Pyruvate dehydrogenase E3-binding protein deficiency
+1 more
GConflicting classifications of pathogenicity
APIP, LOC130005547
+1 more
Single nucleotide variant
(5 prime UTR variant)
Pyruvate dehydrogenase E3-binding protein deficiency
GLikely benign
APIP, LOC130005547
+1 more
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3-binding protein deficiency
GUncertain significance
PDHX
(D345V +2 more)
Single nucleotide variant
(missense variant)
Pyruvate dehydrogenase E3-binding protein deficiency
+1 more
GUncertain significance
PDHX
Single nucleotide variant
(intron variant)
PDHX-related condition
+2 more
GConflicting classifications of pathogenicity
PDHX
(R208W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PDHX
(G135* +1 more)
Single nucleotide variant
(nonsense +1 more)
Pyruvate dehydrogenase E3-binding protein deficiency
GUncertain significance
PDHX
(R160H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC130005549, PDHX
(W45*)
Single nucleotide variant
(nonsense +1 more)
Pyruvate dehydrogenase E3-binding protein deficiency
+1 more
GLikely pathogenic
PDHX
(T238fs +1 more)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
PDHX
(T265fs +1 more)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
PDHX
Single nucleotide variant
(3 prime UTR variant)
Pyruvate dehydrogenase E3-binding protein deficiency
GBenign
PDHX
Single nucleotide variant
(3 prime UTR variant)
Pyruvate dehydrogenase E3-binding protein deficiency
GUncertain significance
PDHX
Single nucleotide variant
(3 prime UTR variant)
Pyruvate dehydrogenase E3-binding protein deficiency
GUncertain significance
PDHX
Single nucleotide variant
(3 prime UTR variant)
Pyruvate dehydrogenase E3-binding protein deficiency
GUncertain significance
PDHX
Single nucleotide variant
(3 prime UTR variant)
Pyruvate dehydrogenase E3-binding protein deficiency
GBenign
PDHX
Single nucleotide variant
(3 prime UTR variant)
Pyruvate dehydrogenase E3-binding protein deficiency
GBenign
PDHX
Single nucleotide variant
(3 prime UTR variant)
Pyruvate dehydrogenase E3-binding protein deficiency
GUncertain significance
PDHX
Single nucleotide variant
(3 prime UTR variant)
Pyruvate dehydrogenase E3-binding protein deficiency
GUncertain significance
PDHX
Single nucleotide variant
(3 prime UTR variant)
Pyruvate dehydrogenase E3-binding protein deficiency
+1 more
GBenign
PDHX
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
PDHX
Single nucleotide variant
(3 prime UTR variant)
Pyruvate dehydrogenase E3-binding protein deficiency
+1 more
GBenign
PDHX
Single nucleotide variant
(3 prime UTR variant)
Pyruvate dehydrogenase E3-binding protein deficiency
GLikely benign
PDHX
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
PDHX
Single nucleotide variant
(intron variant +1 more)
not provided
+1 more
GBenign
PDHX
(S281G +1 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E3-binding protein deficiency
GUncertain significance
PDHX
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PDHX
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PDHX
(H195Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E3-binding protein deficiency
GUncertain significance
PDHX
(E193Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E3-binding protein deficiency
GUncertain significance
PDHX
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PDHX
(G178R +1 more)
Single nucleotide variant
(missense variant +1 more)
PDHX-related condition
+2 more
GLikely benign
PDHX
(V171I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PDHX
Single nucleotide variant
(synonymous variant +1 more)
Pyruvate dehydrogenase E3-binding protein deficiency
+1 more
GBenign/Likely benign
PDHX
(T101A +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
PDHX
Single nucleotide variant
(intron variant)
PDHX-related condition
+2 more
GConflicting classifications of pathogenicity
LOC130005549, PDHX
(Y16S)
Single nucleotide variant
(missense variant +1 more)
PDHX-related condition
+2 more
GConflicting classifications of pathogenicity
LOC130005549, PDHX
Single nucleotide variant
(5 prime UTR variant +1 more)
Pyruvate dehydrogenase E3-binding protein deficiency
GUncertain significance
PDHX
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3-binding protein deficiency
+1 more
GBenign
PDHX
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3-binding protein deficiency
+1 more
GBenign
PDHX
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3-binding protein deficiency
+1 more
GBenign
PDHX
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3-binding protein deficiency
GUncertain significance
PDHX
Single nucleotide variant
(5 prime UTR variant)
Pyruvate dehydrogenase E3-binding protein deficiency
+1 more
GBenign
LOC130005548, PDHX
Single nucleotide variant
(5 prime UTR variant)
Pyruvate dehydrogenase E3-binding protein deficiency
GLikely benign
PDHX
Single nucleotide variant
(missense variant)
Pyruvate dehydrogenase E3-binding protein deficiency
+1 more
GBenign
APIP, LOC130005547
+1 more
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
APIP, LOC130005547
+1 more
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
APIP, LOC130005547
+1 more
Single nucleotide variant
(5 prime UTR variant)
Pyruvate dehydrogenase E3-binding protein deficiency
GUncertain significance
APIP, LOC130005547
+1 more
Single nucleotide variant
(5 prime UTR variant)
Pyruvate dehydrogenase E3-binding protein deficiency
GUncertain significance
LOC130005547, PDHX
+1 more
Single nucleotide variant
(5 prime UTR variant)
Pyruvate dehydrogenase E3-binding protein deficiency
GUncertain significance
APIP, LOC130005547
+1 more
(R7W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
LOC130005547, PDHX
+1 more
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
APIP, LOC130005547
+1 more
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
LOC130005549, PDHX
Single nucleotide variant
(synonymous variant +1 more)
Pyruvate dehydrogenase E3-binding protein deficiency
+2 more
GBenign
PDHX, LOC130005549
(R23C)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
LOC130005549, PDHX
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+2 more
GBenign
LOC130005549, PDHX
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign
PDHX
(D106G +1 more)
Single nucleotide variant
(missense variant)
Pyruvate dehydrogenase E3-binding protein deficiency
+2 more
GUncertain significance
PDHX
(G354D +2 more)
Single nucleotide variant
(missense variant)
Pyruvate dehydrogenase E3-binding protein deficiency
+1 more
GUncertain significance
PDHX
(D351G +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PDHX
(T250I +1 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E3-binding protein deficiency
+1 more
GConflicting classifications of pathogenicity
PDHX
(E214Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E3-binding protein deficiency
+2 more
GConflicting classifications of pathogenicity
PDHX
(L197M +1 more)
Single nucleotide variant
(intron variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
PDHX
(F445V +2 more)
Single nucleotide variant
(missense variant)
Pyruvate dehydrogenase E3-binding protein deficiency
+1 more
GBenign/Likely benign
PDHX
(I377V +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PDHX
(T225M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PDHX
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
LOC130005549, PDHX
Single nucleotide variant
(5 prime UTR variant +1 more)
Pyruvate dehydrogenase E3-binding protein deficiency
+1 more
GBenign
PDHX
(R446* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
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