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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMACHC
(R132* +1 more)
Single nucleotide variant
(nonsense)
Cobalamin C disease
+3 more
GPathogenic
MMACHC
(R161Q +1 more)
Single nucleotide variant
(missense variant)
Cobalamin C disease
+2 more
GPathogenic