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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMUT
(M452K)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
+1 more
GUncertain significance
MMUT
(I69V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity