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Links from MedGen

Items: 1 to 100 of 555

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DLD
Single nucleotide variant
(synonymous variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Deletion
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(synonymous variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Insertion
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(synonymous variant +1 more)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(synonymous variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(synonymous variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
(K104fs +2 more)
Deletion
(frameshift variant)
Pyruvate dehydrogenase E3 deficiency
GPathogenic
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(synonymous variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(synonymous variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
(Y35*)
Single nucleotide variant
(nonsense +1 more)
Pyruvate dehydrogenase E3 deficiency
GPathogenic
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Deletion
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(synonymous variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
(K59*)
Single nucleotide variant
(nonsense +1 more)
Pyruvate dehydrogenase E3 deficiency
GPathogenic
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(synonymous variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(synonymous variant +1 more)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(synonymous variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(synonymous variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
(M1I)
Single nucleotide variant
(missense variant +2 more)
Pyruvate dehydrogenase E3 deficiency
GPathogenic
DLD
Single nucleotide variant
(synonymous variant +1 more)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(synonymous variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(synonymous variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD, LOC129999127
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
(S114A +2 more)
Single nucleotide variant
(missense variant)
Pyruvate dehydrogenase E3 deficiency
GUncertain significance
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(splice donor variant +1 more)
Pyruvate dehydrogenase E3 deficiency
GLikely pathogenic
DLD
Single nucleotide variant
(synonymous variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(synonymous variant +1 more)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(synonymous variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(synonymous variant +1 more)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(synonymous variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(synonymous variant +1 more)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD, LOC129999127
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(synonymous variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(synonymous variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
(S458L +3 more)
Single nucleotide variant
(missense variant)
Pyruvate dehydrogenase E3 deficiency
GUncertain significance
DLD
Single nucleotide variant
(synonymous variant +1 more)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
(K177* +2 more)
Single nucleotide variant
(nonsense +1 more)
Pyruvate dehydrogenase E3 deficiency
GPathogenic
DLD
Deletion
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GBenign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(synonymous variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(synonymous variant +1 more)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(splice acceptor variant)
Pyruvate dehydrogenase E3 deficiency
GLikely pathogenic
DLD
(S262* +3 more)
Single nucleotide variant
(nonsense)
Pyruvate dehydrogenase E3 deficiency
GPathogenic
DLD
Single nucleotide variant
(synonymous variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(synonymous variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD, LOC129999127
Single nucleotide variant
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Deletion
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
Single nucleotide variant
(synonymous variant +1 more)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
DLD
(E330* +3 more)
Single nucleotide variant
(nonsense)
Pyruvate dehydrogenase E3 deficiency
GPathogenic
DLD
Insertion
(intron variant)
Pyruvate dehydrogenase E3 deficiency
GLikely benign
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