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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BCKDHB
(A137V +1 more)
Single nucleotide variant
(missense variant +1 more)
Maple syrup urine disease type 1A
+1 more
GPathogenic/Likely pathogenic
BCKDHB
(G278S +1 more)
Single nucleotide variant
(missense variant +1 more)
Maple syrup urine disease
+3 more
GPathogenic/Likely pathogenic
BCKDHA
(V412M +1 more)
Single nucleotide variant
(missense variant)
Maple syrup urine disease
+3 more
GPathogenic/Likely pathogenic
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