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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMACHC
(W140* +1 more)
Single nucleotide variant
(nonsense)
Cobalamin C disease
GPathogenic
MMACHC
Deletion
(inframe_deletion)
Disorders of Intracellular Cobalamin Metabolism
+1 more
GConflicting classifications of pathogenicity