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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
B3GNT8
Single nucleotide variant
(synonymous variant)
not provided
GBenign
B3GNT8, BCKDHA
Deletion
Maple syrup urine disease
GPathogenic
ACTMAP, AKT2
+84 more
Duplication
MEGF8-related Carpenter syndrome
+3 more
GUncertain significance
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