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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMUT
(Q734*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
MMUT
(R694W)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
+2 more
GPathogenic