"Clinical Genetics, Academic Medical Center"[submitter] AND "DBT"[gene - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 457146	NM_001918.5(DBT):c.1210-9_1210-8insT	DBT	Insertion (intron variant)	Maple syrup urine disease	GBenign
Select item 439588	NM_001918.5(DBT):c.1210-10del	DBT	Deletion (intron variant)	Maple syrup urine disease type 1A +3 more	GBenign
Select item 93985	NM_001918.5(DBT):c.1210-10T>A	DBT	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
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 94012	NM_001918.5(DBT):c.753C>T (p.Asp251=)	DBT	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 210824	NM_001918.5(DBT):c.327C>T (p.Thr109=)	DBT	Single nucleotide variant (synonymous variant)	Maple syrup urine disease +3 more	GConflicting classifications of pathogenicity

ClinVar