"Counsyl"[submitter] AND "DBT"[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 553085	NM_001918.5(DBT):c.*358A>C	DBT	Single nucleotide variant (3 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 554036	NM_001918.5(DBT):c.1400G>A (p.Trp467Ter)	DBT (W467*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 557174	NM_001918.5(DBT):c.1382C>A (p.Ser461Ter)	DBT (S461*)	Single nucleotide variant (nonsense)	Maple syrup urine disease	GConflicting classifications of pathogenicity
Select item 93992	NM_001918.5(DBT):c.1348G>A (p.Ala450Thr)	DBT (A450T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 556615	NM_001918.5(DBT):c.1343G>A (p.Trp448Ter)	DBT (W448*)	Single nucleotide variant (nonsense)	Maple syrup urine disease	GPathogenic
Select item 93991	NM_001918.5(DBT):c.1291C>T (p.Arg431Ter)	DBT (R431*)	Single nucleotide variant (nonsense)	Maple syrup urine disease +1 more	GPathogenic/Likely pathogenic
Select item 557544	NM_001918.5(DBT):c.1282-5_1282-2del	DBT	Deletion (splice acceptor variant)	Maple syrup urine disease	GLikely pathogenic
Select item 552910	NM_001918.5(DBT):c.1202T>C (p.Ile401Thr)	DBT (I401T)	Single nucleotide variant (missense variant)	Maple syrup urine disease +2 more	GConflicting classifications of pathogenicity
Select item 551600	NM_001918.5(DBT):c.1195T>G (p.Ser399Ala)	DBT (S399A)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GConflicting classifications of pathogenicity
Select item 555243	NM_001918.5(DBT):c.1165_1166del (p.Thr388_Thr389insTer)	DBT	Deletion (nonsense)	Maple syrup urine disease	GLikely pathogenic
Select item 554556	NM_001918.5(DBT):c.1126C>T (p.Arg376Cys)	DBT (R376C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 550402	NM_001918.5(DBT):c.1017G>A (p.Lys339=)	DBT	Single nucleotide variant (synonymous variant)	Maple syrup urine disease +2 more	GPathogenic/Likely pathogenic
Select item 94017	NM_001918.5(DBT):c.939G>C (p.Lys313Asn)	DBT (K313N)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 457147	NM_001918.5(DBT):c.872G>T (p.Arg291Leu)	DBT (R291L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 552494	NM_001918.5(DBT):c.788T>C (p.Met263Thr)	DBT (M263T)	Single nucleotide variant (missense variant)	Maple syrup urine disease	GConflicting classifications of pathogenicity
Select item 370744	NM_001918.5(DBT):c.725C>G (p.Ser242Ter)	DBT (S242*)	Single nucleotide variant (nonsense)	Maple syrup urine disease type 1A +1 more	GPathogenic/Likely pathogenic
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 550264	NM_001918.5(DBT):c.641_643del (p.Gly214del)	DBT (G214del)	Deletion (inframe_deletion)	Maple syrup urine disease	GLikely benign
Select item 557560	NM_001918.5(DBT):c.634C>T (p.Gln212Ter)	DBT (Q212*)	Single nucleotide variant (nonsense)	Maple syrup urine disease +1 more	GPathogenic/Likely pathogenic
Select item 555944	NM_001918.5(DBT):c.555+1G>A	DBT	Single nucleotide variant (splice donor variant)	Maple syrup urine disease	GLikely pathogenic
Select item 550690	NM_001918.5(DBT):c.449TTG[1] (p.Val151del)	DBT (V151del)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 552731	NM_001918.5(DBT):c.438AGA[2] (p.Glu148del)	DBT (E148del)	Microsatellite (inframe_deletion)	Maple syrup urine disease	GUncertain significance
Select item 551754	NM_001918.5(DBT):c.434-1G>A	DBT	Single nucleotide variant (splice acceptor variant)	Maple syrup urine disease	GLikely pathogenic
Select item 429606	NM_001918.5(DBT):c.401C>T (p.Pro134Leu)	DBT (P134L)	Single nucleotide variant (missense variant)	Maple syrup urine disease +1 more	GConflicting classifications of pathogenicity
Select item 554452	NM_001918.5(DBT):c.360dup (p.Leu121fs)	DBT (L121fs)	Duplication (frameshift variant)	Maple syrup urine disease	GLikely pathogenic
Select item 557107	NM_001918.5(DBT):c.258_277del (p.Lys87fs)	DBT (K87fs)	Deletion (frameshift variant)	Maple syrup urine disease	GLikely pathogenic
Select item 527136	NM_001918.5(DBT):c.260AAG[1] (p.Glu88del)	DBT (E88del)	Microsatellite (inframe_deletion)	Maple syrup urine disease type 1A +1 more	GPathogenic/Likely pathogenic
Select item 550746	NM_001918.5(DBT):c.165AAC[1] (p.Thr57del)	DBT (T57del)	Microsatellite (inframe_deletion)	Maple syrup urine disease	GUncertain significance
Select item 551067	NM_001918.5(DBT):c.141_142del (p.Tyr47_Ser48delinsTer)	DBT	Microsatellite (nonsense)	Maple syrup urine disease	GLikely pathogenic
Select item 195157	NM_001918.5(DBT):c.126T>G (p.Tyr42Ter)	DBT (Y42*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 554005	NM_001918.5(DBT):c.82_84dup (p.Asn28dup)	DBT	Duplication (inframe_insertion)	Maple syrup urine disease	GUncertain significance
Select item 94008	NM_001918.5(DBT):c.61C>T (p.Arg21Cys)	DBT (R21C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 553232	NM_001918.5(DBT):c.52-48_52-45delinsTAC	DBT	Indel (intron variant)	Maple syrup urine disease	GLikely benign

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Items: 34