GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
BCKDHB H156Yinsufficiently evaluated pathogenicunknown

(1 web hit)

BCKDHB R183Pinsufficiently evaluated pathogenic, f=0.000recessive

Maple Syrup Urine Disease

(40 web hits)

BCKDHB G278Sinsufficiently evaluated pathogenic, f=0.000recessive

Maple Syrup Urine Disease

(10 web hits)

BCKDHB E322Xinsufficiently evaluated not reviewedunknown
BCKDHB E372Xinsufficiently evaluated pathogenicrecessive

Maple Syrup Urine Disease

(8 web hits)

Total results: 5

Gene search

"GENE" or "GENE A123C":

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