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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDHX
(P126fs +1 more)
Deletion
(frameshift variant +1 more)
Pyruvate dehydrogenase E3-binding protein deficiency
GPathogenic/Likely pathogenic
PDHX
(Q188E +1 more)
Single nucleotide variant
(missense variant +1 more)
Pyruvate dehydrogenase E3-binding protein deficiency
+2 more
GConflicting classifications of pathogenicity