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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TCN2
(S209* +1 more)
Single nucleotide variant
(nonsense)
Transcobalamin II deficiency
Gnot provided
TCN2
(C282fs +1 more)
Deletion
(frameshift variant)
Transcobalamin II deficiency
GPathogenic