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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
L2HGDH
(R405G)
Single nucleotide variant
(missense variant)
L-2-hydroxyglutaric aciduria
GUncertain significance
L2HGDH
Single nucleotide variant
(splice donor variant)
L-2-hydroxyglutaric aciduria
GPathogenic