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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DBT
(T397I)
Single nucleotide variant
(missense variant)
Maple syrup urine disease type 2
GUncertain significance
DBT
(A300fs)
Deletion
(frameshift variant)
Maple syrup urine disease type 2
GPathogenic