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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DMGDH
(W90*)
Single nucleotide variant
(nonsense +1 more)
Dimethylglycine dehydrogenase deficiency
GLikely pathogenic
DMGDH
(L79R)
Single nucleotide variant
(missense variant +1 more)
Dimethylglycine dehydrogenase deficiency
GLikely pathogenic