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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MANBA
(R388W)
Single nucleotide variant
(missense variant)
Beta-D-mannosidosis
GLikely pathogenic
MANBA
(W231*)
Single nucleotide variant
(nonsense)
Beta-D-mannosidosis
GPathogenic