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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMUT
(G284*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
+2 more
GPathogenic
MMUT
(V227fs)
Duplication
(frameshift variant)
not provided
+2 more
GPathogenic
MMUT
(R108C)
Single nucleotide variant
(missense variant)
METHYLMALONIC ACIDURIA, mut(0) TYPE
+4 more
GPathogenic
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