"OMIM"[submitter] AND "DBT"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 11951	NM_001918.3(DBT):c.1282-4142_*(434_435)del	DBT	Deletion	Maple syrup urine disease type 2	GPathogenic
Select item 11947	NM_001918.5(DBT):c.1448G>T (p.Ter483Leu)	DBT	Single nucleotide variant (stop lost)	Maple syrup urine disease type 2	GPathogenic
Select item 11952	NM_001918.5(DBT):c.1355A>G (p.His452Arg)	DBT (H452R)	Single nucleotide variant (missense variant)	Maple syrup urine disease type 2	GPathogenic
Select item 11949	NM_001918.5(DBT):c.1150= (p.Ser384=)	DBT	Single nucleotide variant (no sequence alteration)	Maple syrup urine disease	GBenign
Select item 11946	NM_001918.5(DBT):c.1018-550A>G	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease type 1A +2 more	GPathogenic/Likely pathogenic
Select item 11945	NM_001918.5(DBT):c.1017+1del	DBT	Deletion (splice donor variant)	Maple syrup urine disease type 2	GPathogenic
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 11953	NM_001918.5(DBT):c.581C>G (p.Ser194Ter)	DBT (S194*)	Single nucleotide variant (nonsense)	Maple syrup urine disease type 2	GPathogenic
Select item 11948	NM_001918.5(DBT):c.294C>G (p.Ile98Met)	DBT (I98M)	Single nucleotide variant (missense variant)	Maple syrup urine disease type 2	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
Select item 11944	NM_001918.3(DBT):c.434_435insAATACCTTGTTACCAGA	DBT	Insertion	Maple syrup urine disease type 2	GPathogenic
Select item 11942	NM_001918.3:c.48_171del	DBT	Deletion	Maple syrup urine disease type 2	GPathogenic