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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMUT
Single nucleotide variant
(splice acceptor variant)
not provided
+2 more
GPathogenic/Likely pathogenic
MMUT
(Q293R)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
+3 more
GConflicting classifications of pathogenicity