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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMACHC
(I190fs +1 more)
Duplication
(frameshift variant)
Cobalamin C disease
GPathogenic
LOC129930446, MMACHC
(W203* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic