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Links from MedGen

Items: 1 to 100 of 463

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDHA1
Duplication
(inframe_insertion)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely pathogenic
PDHA1
(R45fs +1 more)
Indel
(frameshift variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely pathogenic
PDHA1
(I125T +1 more)
Single nucleotide variant
(missense variant)
Pyruvate dehydrogenase E1-alpha deficiency
GPathogenic
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GUncertain significance
PDHA1
Deletion
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Single nucleotide variant
(synonymous variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Single nucleotide variant
(synonymous variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Single nucleotide variant
(synonymous variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Duplication
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
(V71I +1 more)
Single nucleotide variant
(missense variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Duplication
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GBenign
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Duplication
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GBenign
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GBenign
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Duplication
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GBenign
PDHA1
Single nucleotide variant
(synonymous variant +1 more)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Duplication
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GBenign
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Duplication
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GBenign
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Deletion
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Deletion
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GBenign
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Microsatellite
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Single nucleotide variant
(synonymous variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Duplication
(synonymous variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Single nucleotide variant
(synonymous variant +1 more)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Single nucleotide variant
(splice donor variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely pathogenic
PDHA1
Single nucleotide variant
(synonymous variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Single nucleotide variant
(synonymous variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Duplication
(splice acceptor variant)
Pyruvate dehydrogenase E1-alpha deficiency
GUncertain significance
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Deletion
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Single nucleotide variant
(synonymous variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Single nucleotide variant
(synonymous variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
(S16F)
Single nucleotide variant
(missense variant)
Pyruvate dehydrogenase E1-alpha deficiency
GUncertain significance
PDHA1
Single nucleotide variant
(synonymous variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Single nucleotide variant
(synonymous variant +1 more)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
(M251L +3 more)
Single nucleotide variant
(missense variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
(F212L +3 more)
Single nucleotide variant
(missense variant)
Pyruvate dehydrogenase E1-alpha deficiency
GPathogenic
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
(Q351K +3 more)
Single nucleotide variant
(missense variant)
Pyruvate dehydrogenase E1-alpha deficiency
GUncertain significance
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Duplication
(no sequence alteration)
Pyruvate dehydrogenase E1-alpha deficiency
GBenign
PDHA1
(M325K +3 more)
Single nucleotide variant
(missense variant)
Pyruvate dehydrogenase E1-alpha deficiency
GUncertain significance
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Duplication
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Single nucleotide variant
(synonymous variant +1 more)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
(R232L +3 more)
Single nucleotide variant
(missense variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely pathogenic
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Single nucleotide variant
(synonymous variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
(W383* +3 more)
Single nucleotide variant
(nonsense)
Pyruvate dehydrogenase E1-alpha deficiency
GPathogenic
PDHA1
(A330G +3 more)
Single nucleotide variant
(missense variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely pathogenic
PDHA1
(P179L +2 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E1-alpha deficiency
GPathogenic
PDHA1
(G135D +2 more)
Single nucleotide variant
(missense variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely pathogenic
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Microsatellite
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GBenign
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
(R232Q +3 more)
Single nucleotide variant
(missense variant)
Pyruvate dehydrogenase E1-alpha deficiency
GPathogenic
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Single nucleotide variant
(synonymous variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely benign
PDHA1
Deletion
(inframe_deletion)
Pyruvate dehydrogenase E1-alpha deficiency
GUncertain significance
PDHA1
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
PDHA1
(N350K +3 more)
Single nucleotide variant
(missense variant)
Pyruvate dehydrogenase E1-alpha deficiency
GUncertain significance
PDHA1
(W352* +3 more)
Single nucleotide variant
(nonsense)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely pathogenic
PDHA1
(M264V +3 more)
Single nucleotide variant
(missense variant)
Pyruvate dehydrogenase E1-alpha deficiency
GUncertain significance
PDHA1
(E175K +3 more)
Single nucleotide variant
(missense variant)
Pyruvate dehydrogenase E1-alpha deficiency
GPathogenic
PDHA1
(M155I +2 more)
Single nucleotide variant
(missense variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely pathogenic
PDHA1
Duplication
(inframe_insertion)
Pyruvate dehydrogenase E1-alpha deficiency
GUncertain significance
PDHA1
(P285A +3 more)
Single nucleotide variant
(missense variant)
Pyruvate dehydrogenase E1-alpha deficiency
GUncertain significance
PDHA1
(G225R +3 more)
Single nucleotide variant
(missense variant)
Pyruvate dehydrogenase E1-alpha deficiency
GConflicting classifications of pathogenicity
PDHA1
(Q122K +1 more)
Single nucleotide variant
(missense variant)
Pyruvate dehydrogenase E1-alpha deficiency
GUncertain significance
PDHA1
(K40E +1 more)
Single nucleotide variant
(missense variant)
Pyruvate dehydrogenase E1-alpha deficiency
GUncertain significance
PDHA1
Microsatellite
(inframe_insertion)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely pathogenic
PDHA1
(R104fs +1 more)
Duplication
(frameshift variant)
Pyruvate dehydrogenase E1-alpha deficiency
GLikely pathogenic
PDHA1
Duplication
Pyruvate dehydrogenase E1-alpha deficiency
GUncertain significance
PDHA1
Duplication
(inframe_insertion)
Pyruvate dehydrogenase E1-alpha deficiency
GUncertain significance
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