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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DLD
(T34A)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase complex deficiency
+4 more
GUncertain significance
DLD
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
DLD
Single nucleotide variant
(synonymous variant +1 more)
Leigh syndrome
+4 more
GConflicting classifications of pathogenicity
DLD
Single nucleotide variant
(synonymous variant)
Pyruvate dehydrogenase E3 deficiency
+1 more
GBenign
DLD
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
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