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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BCKDHB
(R183P +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
BCKDHB
(G278S +1 more)
Single nucleotide variant
(missense variant +1 more)
Maple syrup urine disease
+2 more
GPathogenic/Likely pathogenic
BCKDHB
(E372* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
BCKDHA
(Y438N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GPathogenic/Likely pathogenic
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