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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMACHC
(R61W +1 more)
Single nucleotide variant
(missense variant)
Cobalamin C disease
+4 more
GUncertain significance
MMACHC
(R91fs +1 more)
Duplication
(frameshift variant)
MMACHC-related disorder
+6 more
GPathogenic
MMACHC
Deletion
(inframe_deletion)
Cobalamin C disease
GConflicting classifications of pathogenicity
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