"Illumina Laboratory Services, Illumina"[submitter] AND "BCKDHB"[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 358167	NM_183050.3(BCKDHB):c.-41C>T	BCKDHB	Single nucleotide variant (5 prime UTR variant)	Maple syrup urine disease	GUncertain significance
Select item 96578	NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs)	BCKDHB (L12fs)	Deletion (frameshift variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 358168	NM_183050.4(BCKDHB):c.51A>G (p.Ala17=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 281334	NM_183050.4(BCKDHB):c.51A>C (p.Ala17=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	Maple syrup urine disease +1 more	GConflicting classifications of pathogenicity
Select item 358169	NM_183050.4(BCKDHB):c.63G>T (p.Gly21=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GBenign/Likely benign
Select item 96572	NM_183050.4(BCKDHB):c.197-11G>T	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease +1 more	GBenign
Select item 358170	NM_183050.4(BCKDHB):c.245A>G (p.Asp82Gly)	BCKDHB (D82G +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease	GUncertain significance
Select item 96576	NM_183050.4(BCKDHB):c.302G>A (p.Gly101Asp)	BCKDHB (G101D +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease +1 more	GConflicting classifications of pathogenicity
Select item 11937	NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)	BCKDHB (R183P +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease type 1B +3 more	GPathogenic/Likely pathogenic
Select item 96599	NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer)	BCKDHB	Microsatellite (frameshift variant +1 more)	Maple syrup urine disease +2 more	GPathogenic
Select item 911611	NM_183050.4(BCKDHB):c.732C>T (p.Tyr244=)	BCKDHB	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GConflicting classifications of pathogenicity
Select item 617991	NM_183050.4(BCKDHB):c.744G>A (p.Ala248=)	BCKDHB	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease +2 more	GConflicting classifications of pathogenicity
Select item 96621	NM_183050.4(BCKDHB):c.970C>T (p.Arg324Ter)	BCKDHB (R324* +1 more)	Single nucleotide variant (nonsense +1 more)	Maple syrup urine disease type 1B +2 more	GPathogenic/Likely pathogenic
Select item 358171	NM_183050.4(BCKDHB):c.987C>T (p.His329=)	BCKDHB	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 358172	NM_183050.4(BCKDHB):c.1031C>T (p.Thr344Ile)	BCKDHB (T344I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 911612	NM_183050.4(BCKDHB):c.1112T>C (p.Phe371Ser)	BCKDHB (F371S +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease	GUncertain significance
Select item 358173	NM_183050.4(BCKDHB):c.*83C>T	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 358174	NM_183050.4(BCKDHB):c.*121G>A	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease +1 more	GBenign
Select item 358175	NM_183050.4(BCKDHB):c.*236G>A	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 908662	NM_183050.4(BCKDHB):c.*263C>A	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 358176	NM_183050.4(BCKDHB):c.*293T>C	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 358177	NM_183050.4(BCKDHB):c.*304G>A	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease +1 more	GBenign
Select item 358178	NM_183050.4(BCKDHB):c.*345C>T	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GBenign
Select item 358179	NM_183050.4(BCKDHB):c.*395G>T	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GBenign
Select item 358180	NM_183050.4(BCKDHB):c.*440A>T	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GBenign
Select item 358181	NM_183050.4(BCKDHB):c.*466G>T	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 909518	NM_183050.4(BCKDHB):c.*501A>G	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 909519	NM_183050.4(BCKDHB):c.*540T>C	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 358183	NM_183050.4(BCKDHB):c.559_560dup	BCKDHB	Duplication (3 prime UTR variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 358182	NM_183050.4(BCKDHB):c.*560dup	BCKDHB	Duplication (3 prime UTR variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 358184	NM_183050.4(BCKDHB):c.559_560del	BCKDHB	Deletion (3 prime UTR variant +2 more)	Maple syrup urine disease	GBenign
Select item 909520	NM_183050.4(BCKDHB):c.*569G>A	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 909521	NM_183050.4(BCKDHB):c.*574A>G	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 358185	NM_183050.4(BCKDHB):c.*627T>C	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GBenign
Select item 358186	NM_183050.4(BCKDHB):c.*644C>T	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 358187	NM_183050.4(BCKDHB):c.*726A>G	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GBenign
Select item 358188	NM_183050.4(BCKDHB):c.*731C>T	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GBenign
Select item 358189	NM_183050.4(BCKDHB):c.*763G>A	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GBenign
Select item 910453	NM_183050.4(BCKDHB):c.*777G>C	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 358190	NM_183050.4(BCKDHB):c.*789C>T	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GBenign
Select item 358191	NM_183050.4(BCKDHB):c.*805T>C	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GBenign
Select item 358192	NM_183050.4(BCKDHB):c.*832C>T	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GBenign
Select item 358193	NM_183050.4(BCKDHB):c.*896A>G	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 358194	NM_183050.4(BCKDHB):c.*921C>T	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 358195	NM_183050.4(BCKDHB):c.*922A>G	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 358196	NM_183050.4(BCKDHB):c.*994G>A	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GBenign
Select item 908723	NM_183050.4(BCKDHB):c.*1008T>C	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 358197	NM_183050.4(BCKDHB):c.*1010A>G	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 358198	NM_183050.4(BCKDHB):c.*1142C>G	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GBenign
Select item 908724	NM_183050.4(BCKDHB):c.*1143A>G	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 358199	NM_183050.4(BCKDHB):c.*1158T>G	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GBenign
Select item 358200	NM_183050.4(BCKDHB):c.*1162T>C	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 358201	NM_183050.4(BCKDHB):c.*1239dup	BCKDHB	Duplication (3 prime UTR variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 358202	NM_183050.4(BCKDHB):c.*1241A>G	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GBenign
Select item 909579	NM_183050.4(BCKDHB):c.*1279A>G	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 358203	NM_183050.4(BCKDHB):c.*1315G>A	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 358204	NM_183050.4(BCKDHB):c.*1444T>C	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GBenign
Select item 358205	NM_183050.4(BCKDHB):c.*1554C>G	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 909580	NM_183050.4(BCKDHB):c.*1603G>A	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 358206	NM_183050.4(BCKDHB):c.*1778A>G	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GBenign
Select item 358207	NM_183050.4(BCKDHB):c.*1798C>T	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 358208	NM_183050.4(BCKDHB):c.*1810T>C	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GBenign
Select item 358209	NM_183050.4(BCKDHB):c.*1875G>A	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GBenign
Select item 358210	NM_183050.4(BCKDHB):c.*1892T>C	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GBenign
Select item 911743	NM_183050.4(BCKDHB):c.*1908A>G	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 911744	NM_183050.4(BCKDHB):c.*1909T>C	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 911745	NM_183050.4(BCKDHB):c.*2018A>G	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 911746	NM_183050.4(BCKDHB):c.*2072C>T	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 911747	NM_183050.4(BCKDHB):c.*2212T>C	BCKDHB	Single nucleotide variant (3 prime UTR variant +1 more)	Maple syrup urine disease	GUncertain significance
Select item 358211	NM_183050.4(BCKDHB):c.*2224dup	BCKDHB	Duplication (3 prime UTR variant +1 more)	Maple syrup urine disease	GUncertain significance
Select item 911748	NM_183050.4(BCKDHB):c.*2224T>A	BCKDHB	Single nucleotide variant (3 prime UTR variant +1 more)	Maple syrup urine disease	GUncertain significance
Select item 911749	NM_183050.4(BCKDHB):c.*2245C>G	BCKDHB	Single nucleotide variant (3 prime UTR variant +1 more)	Maple syrup urine disease	GUncertain significance
Select item 358212	NM_183050.4(BCKDHB):c.*2271G>A	BCKDHB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 358213	NM_183050.4(BCKDHB):c.*2282C>T	BCKDHB	Single nucleotide variant (3 prime UTR variant +1 more)	Maple syrup urine disease +1 more	GBenign

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Items: 74