"Myriad Genetics, Inc."[submitter] AND "DBT"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 984205	NM_001918.5(DBT):c.1208C>A (p.Ser403Ter)	DBT (S403*)	Single nucleotide variant (nonsense)	Maple syrup urine disease	GLikely pathogenic
Select item 983638	NM_001918.5(DBT):c.961C>T (p.Gln321Ter)	DBT (Q321*)	Single nucleotide variant (nonsense)	Maple syrup urine disease	GPathogenic/Likely pathogenic
Select item 1725377	NM_001918.5(DBT):c.904G>T (p.Gly302Ter)	DBT (G121* +1 more)	Single nucleotide variant (nonsense +1 more)	Maple syrup urine disease	GLikely pathogenic
Select item 94016	NM_001918.5(DBT):c.901C>T (p.Arg301Cys)	DBT (R301C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1726224	NM_001918.5(DBT):c.777_778delinsA (p.Phe259fs)	DBT (F259fs +1 more)	Indel (frameshift variant +1 more)	Maple syrup urine disease	GLikely pathogenic
Select item 1724641	NM_001918.5(DBT):c.775_778del (p.Phe259fs)	DBT (F259fs +1 more)	Deletion (frameshift variant +1 more)	Maple syrup urine disease	GLikely pathogenic
Select item 1725764	NM_001918.5(DBT):c.743_744del (p.Thr248fs)	DBT (T248fs +1 more)	Microsatellite (frameshift variant +1 more)	Maple syrup urine disease	GLikely pathogenic
Select item 1726252	NM_001918.5(DBT):c.596_615delinsTAAT (p.Arg199fs)	DBT (R18fs +1 more)	Indel (frameshift variant +1 more)	Maple syrup urine disease	GLikely pathogenic
Select item 1724414	NM_001918.5(DBT):c.573del (p.Val192fs)	DBT (V11fs +1 more)	Deletion (frameshift variant +1 more)	Maple syrup urine disease	GLikely pathogenic
Select item 1726979	NM_001918.5(DBT):c.567_568del (p.Ser189fs)	DBT (S189fs +1 more)	Deletion (frameshift variant +1 more)	Maple syrup urine disease	GLikely pathogenic
Select item 1724706	NM_001918.5(DBT):c.511del (p.Thr171fs)	DBT (T171fs)	Deletion (5 prime UTR variant +2 more)	Maple syrup urine disease	GLikely pathogenic
Select item 1726004	NM_001918.5(DBT):c.325dup (p.Thr109fs)	DBT (T109fs)	Duplication (5 prime UTR variant +2 more)	Maple syrup urine disease	GLikely pathogenic
Select item 983639	NM_001918.5(DBT):c.298G>T (p.Glu100Ter)	DBT (E100*)	Single nucleotide variant (nonsense)	Maple syrup urine disease	GLikely pathogenic
Select item 983640	NM_001918.5(DBT):c.209C>A (p.Ser70Ter)	DBT (S70*)	Single nucleotide variant (nonsense)	Maple syrup urine disease	GLikely pathogenic
Select item 983641	NM_001918.5(DBT):c.196C>T (p.Gln66Ter)	DBT (Q66*)	Single nucleotide variant (nonsense)	Maple syrup urine disease	GLikely pathogenic
Select item 983642	NM_001918.5(DBT):c.187C>T (p.Gln63Ter)	DBT (Q63*)	Single nucleotide variant (nonsense)	Maple syrup urine disease	GLikely pathogenic
Select item 1726587	NM_001918.5(DBT):c.131C>G (p.Ser44Ter)	DBT (S44*)	Single nucleotide variant (5 prime UTR variant +2 more)	Maple syrup urine disease	GLikely pathogenic
Select item 983643	NM_001918.5(DBT):c.126T>A (p.Tyr42Ter)	DBT (Y42*)	Single nucleotide variant (nonsense)	Maple syrup urine disease	GLikely pathogenic
Select item 1725942	NM_001918.5(DBT):c.111_114del (p.Cys38fs)	DBT (C38fs)	Microsatellite (5 prime UTR variant +2 more)	Maple syrup urine disease	GLikely pathogenic
Select item 11950	NM_001918.5(DBT):c.75_76del (p.Cys26fs)	DBT (C26fs)	Deletion (frameshift variant)	Maple syrup urine disease type 2 +1 more	GPathogenic/Likely pathogenic
Select item 983644	NM_001918.5(DBT):c.70C>T (p.Gln24Ter)	DBT (Q24*)	Single nucleotide variant (nonsense)	Maple syrup urine disease	GLikely pathogenic

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Items: 21