C1855371[trait identifier] AND "Center for Genomic Medicine, King Fais - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065883	NM_001918.5(DBT):c.1346C>G (p.Ser449Ter)	DBT (S268* +1 more)	Single nucleotide variant (nonsense +1 more)	Maple syrup urine disease type 2	GLikely pathogenic
Select item 3233387	NM_001918.5(DBT):c.1281+3A>G	DBT	Single nucleotide variant (intron variant)	Maple syrup urine disease type 2	GUncertain significance
Select item 3233363	NM_001918.5(DBT):c.1274C>G (p.Ser425Ter)	DBT (S244* +1 more)	Single nucleotide variant (nonsense +1 more)	Maple syrup urine disease type 2	GLikely pathogenic
Select item 3065184	NM_001918.5(DBT):c.1199A>G (p.Asn400Ser)	DBT (N219S +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease type 2	GLikely pathogenic
Select item 94014	NM_001918.5(DBT):c.773-2A>G	DBT	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 2674736	NM_001918.5(DBT):c.505C>T (p.Arg169Ter)	DBT (R169*)	Single nucleotide variant (5 prime UTR variant +2 more)	Maple syrup urine disease type 2 +1 more	GLikely pathogenic
Select item 195158	NM_001918.5(DBT):c.137A>G (p.Lys46Arg)	DBT (K46R)	Single nucleotide variant (missense variant)	Maple syrup urine disease type 2 +1 more	GUncertain significance
Select item 3064163	NM_001918.5(DBT):c.30G>A (p.Trp10Ter)	DBT (W10*)	Single nucleotide variant (5 prime UTR variant +2 more)	Maple syrup urine disease type 2	GLikely pathogenic

ClinVar