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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MCEE
(N115K)
Single nucleotide variant
(missense variant)
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
+1 more
GUncertain significance
MCEE
(R47*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic