"Fulgent Genetics, Fulgent Genetics"[submitter] AND "DBT"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 128885	NM_001918.5(DBT):c.1150A>G (p.Ser384Gly)	DBT	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 94016	NM_001918.5(DBT):c.901C>T (p.Arg301Cys)	DBT (R301C)	Single nucleotide variant (missense variant)	Maple syrup urine disease type 1A +2 more	GPathogenic/Likely pathogenic
Select item 11943	NM_001918.5(DBT):c.827T>G (p.Phe276Cys)	DBT (F276C)	Single nucleotide variant (missense variant)	Maple syrup urine disease type 1A +3 more	GPathogenic/Likely pathogenic
Select item 94011	NM_001918.5(DBT):c.724T>C (p.Ser242Pro)	DBT (S242P)	Single nucleotide variant (missense variant)	Maple syrup urine disease +3 more	GBenign/Likely benign
Select item 663483	NM_001918.5(DBT):c.673A>C (p.Ile225Leu)	DBT (I225L)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GUncertain significance
Select item 94009	NM_001918.5(DBT):c.670G>T (p.Glu224Ter)	DBT (E224*)	Single nucleotide variant (nonsense)	Maple syrup urine disease +3 more	GPathogenic
Select item 11950	NM_001918.5(DBT):c.75_76del (p.Cys26fs)	DBT (C26fs)	Deletion (frameshift variant)	Maple syrup urine disease type 1A +2 more	GPathogenic

ClinVar