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

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 558247	NM_183050.4(BCKDHB):c.-22_4del (p.Met1fs)	BCKDHB (M1fs)	Deletion (frameshift variant +3 more)	Maple syrup urine disease	GLikely pathogenic
Select item 551456	NM_183050.4(BCKDHB):c.1A>T (p.Met1Leu)	BCKDHB (M1L)	Single nucleotide variant (missense variant +3 more)	Maple syrup urine disease +1 more	GPathogenic/Likely pathogenic
Select item 556528	NM_183050.4(BCKDHB):c.8_19dup (p.Val3_Ala6dup)	BCKDHB	Duplication (inframe_insertion +3 more)	Maple syrup urine disease	GUncertain significance
Select item 553562	NM_183050.4(BCKDHB):c.2T>C (p.Met1Thr)	BCKDHB (M1T)	Single nucleotide variant (missense variant +3 more)	Maple syrup urine disease	GPathogenic/Likely pathogenic
Select item 370805	NM_183050.4(BCKDHB):c.18_27del (p.Ala7fs)	BCKDHB (A7fs)	Deletion (frameshift variant +2 more)	Maple syrup urine disease type 1A +1 more	GLikely pathogenic
Select item 370823	NM_183050.4(BCKDHB):c.79_89del (p.Pro27fs)	BCKDHB (P27fs)	Deletion (frameshift variant +2 more)	Maple syrup urine disease	GPathogenic/Likely pathogenic
Select item 189101	NM_183050.4(BCKDHB):c.93_103dup (p.Phe35fs)	BCKDHB (F35fs)	Microsatellite (frameshift variant +2 more)	Maple syrup urine disease +2 more	GPathogenic/Likely pathogenic
Select item 370739	NM_183050.4(BCKDHB):c.97del (p.Arg33fs)	BCKDHB (R33fs)	Deletion (frameshift variant +2 more)	Maple syrup urine disease	GLikely pathogenic
Select item 371618	NM_183050.4(BCKDHB):c.139_149del (p.Gln47fs)	BCKDHB (Q47fs)	Deletion (frameshift variant +2 more)	Maple syrup urine disease	GLikely pathogenic
Select item 555903	NM_183050.4(BCKDHB):c.169C>T (p.Gln57Ter)	BCKDHB (Q57*)	Single nucleotide variant (nonsense +2 more)	Maple syrup urine disease	GPathogenic/Likely pathogenic
Select item 557496	NM_183050.4(BCKDHB):c.181G>T (p.Glu61Ter)	BCKDHB (E61*)	Single nucleotide variant (nonsense +2 more)	Maple syrup urine disease	GPathogenic/Likely pathogenic
Select item 556885	NM_183050.4(BCKDHB):c.196+1G>T	BCKDHB	Single nucleotide variant (intron variant +1 more)	Maple syrup urine disease	GLikely pathogenic
Select item 556524	NM_183050.4(BCKDHB):c.196+1G>C	BCKDHB	Single nucleotide variant (intron variant +1 more)	Maple syrup urine disease	GLikely pathogenic
Select item 449661	NM_183050.4(BCKDHB):c.275-2A>G	BCKDHB	Single nucleotide variant (splice acceptor variant)	Maple syrup urine disease +1 more	GPathogenic/Likely pathogenic
Select item 550081	NM_183050.4(BCKDHB):c.281_291del (p.Phe94fs)	BCKDHB (F94fs +1 more)	Deletion (frameshift variant +1 more)	Maple syrup urine disease	GPathogenic/Likely pathogenic
Select item 224054	NM_183050.4(BCKDHB):c.293T>G (p.Val98Gly)	BCKDHB (V98G +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease	GConflicting classifications of pathogenicity
Select item 96579	NM_183050.4(BCKDHB):c.342T>G (p.Tyr114Ter)	BCKDHB (Y114* +1 more)	Single nucleotide variant (nonsense +1 more)	Maple syrup urine disease type 1A +2 more	GPathogenic/Likely pathogenic
Select item 556442	NM_183050.4(BCKDHB):c.343+2T>G	BCKDHB	Single nucleotide variant (splice donor variant)	Maple syrup urine disease	GPathogenic/Likely pathogenic
Select item 556787	NM_183050.4(BCKDHB):c.364dup (p.Thr122fs)	BCKDHB (T122fs +1 more)	Duplication (frameshift variant +1 more)	Maple syrup urine disease	GLikely pathogenic
Select item 397609	NM_183050.4(BCKDHB):c.365C>A (p.Thr122Asn)	BCKDHB (T122N +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease	GUncertain significance
Select item 370949	NM_183050.4(BCKDHB):c.410C>T (p.Ala137Val)	BCKDHB (A137V +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease type 1A +1 more	GPathogenic/Likely pathogenic
Select item 370827	NM_183050.4(BCKDHB):c.487G>T (p.Glu163Ter)	BCKDHB (E163* +1 more)	Single nucleotide variant (nonsense +1 more)	Maple syrup urine disease type 1B +1 more	GPathogenic
Select item 457149	NM_183050.4(BCKDHB):c.503G>A (p.Arg168His)	BCKDHB (R168H +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease	GPathogenic
Select item 96590	NM_183050.4(BCKDHB):c.508C>T (p.Arg170Cys)	BCKDHB (R170C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 96591	NM_183050.4(BCKDHB):c.509G>A (p.Arg170His)	BCKDHB (R170H +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease type 1A +2 more	GPathogenic/Likely pathogenic
Select item 553998	NM_183050.4(BCKDHB):c.517G>T (p.Asp173Tyr)	BCKDHB (D173Y +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease	GUncertain significance
Select item 96599	NM_183050.4(BCKDHB):c.595_596del (p.Ser199_Pro200insTer)	BCKDHB	Microsatellite (frameshift variant +1 more)	Maple syrup urine disease +3 more	GPathogenic
Select item 553513	NM_183050.4(BCKDHB):c.599C>T (p.Pro200Leu)	BCKDHB (P200L +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease	GUncertain significance
Select item 553536	NM_183050.4(BCKDHB):c.633+1G>T	BCKDHB	Single nucleotide variant (splice donor variant)	Maple syrup urine disease	GPathogenic/Likely pathogenic
Select item 550752	NM_183050.4(BCKDHB):c.633+1G>C	BCKDHB	Single nucleotide variant (splice donor variant)	Maple syrup urine disease	GLikely pathogenic
Select item 390609	NM_183050.4(BCKDHB):c.637G>T (p.Val213Phe)	BCKDHB (V213F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 96605	NM_183050.4(BCKDHB):c.727C>T (p.Leu243Phe)	BCKDHB (L243F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 370540	NM_183050.4(BCKDHB):c.730del (p.Tyr244fs)	BCKDHB (Y174fs +1 more)	Deletion (frameshift variant +1 more)	Maple syrup urine disease	GPathogenic/Likely pathogenic
Select item 556618	NM_183050.4(BCKDHB):c.742+1G>A	BCKDHB	Single nucleotide variant (splice donor variant)	Maple syrup urine disease	GLikely pathogenic
Select item 96608	NM_183050.4(BCKDHB):c.752T>C (p.Val251Ala)	BCKDHB (V251A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 96609	NM_183050.4(BCKDHB):c.799C>T (p.Gln267Ter)	BCKDHB (Q267* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 557213	NM_183050.4(BCKDHB):c.811_824del (p.Asp271fs)	BCKDHB (D201fs +1 more)	Deletion (frameshift variant +1 more)	Maple syrup urine disease	GPathogenic/Likely pathogenic
Select item 370370	NM_183050.4(BCKDHB):c.840+1G>A	BCKDHB	Single nucleotide variant (splice donor variant)	Maple syrup urine disease	GLikely pathogenic
Select item 370274	NM_183050.4(BCKDHB):c.840+1G>T	BCKDHB	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 96611	NM_183050.4(BCKDHB):c.840+2T>G	BCKDHB	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 551468	NM_183050.4(BCKDHB):c.841-1G>C	BCKDHB	Single nucleotide variant (splice acceptor variant)	Maple syrup urine disease	GLikely pathogenic
Select item 371249	NM_183050.4(BCKDHB):c.853del (p.Arg285fs)	BCKDHB (R215fs +1 more)	Deletion (frameshift variant +1 more)	Maple syrup urine disease	GLikely pathogenic
Select item 96615	NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter)	BCKDHB (R285* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 558532	NM_183050.4(BCKDHB):c.931G>C (p.Asp311His)	BCKDHB (D311H +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease	GUncertain significance
Select item 110939	NM_183050.4(BCKDHB):c.951+27209A>G	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GLikely benign
Select item 550194	NM_183050.4(BCKDHB):c.952-16_952-15del	BCKDHB	Deletion (intron variant)	Maple syrup urine disease	GLikely benign
Select item 550562	NM_183050.4(BCKDHB):c.952-2A>G	BCKDHB	Single nucleotide variant (splice acceptor variant)	Maple syrup urine disease type 1A +1 more	GLikely pathogenic
Select item 558127	NM_183050.4(BCKDHB):c.964del (p.Thr322fs)	BCKDHB (T322fs +1 more)	Deletion (frameshift variant +1 more)	Maple syrup urine disease	GLikely pathogenic
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 1A +3 more	GPathogenic/Likely pathogenic
Select item 96622	NM_183050.4(BCKDHB):c.974T>G (p.Leu325Arg)	BCKDHB (L325R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 557381	NM_183050.4(BCKDHB):c.988G>A (p.Glu330Lys)	BCKDHB (E330K +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease	GPathogenic/Likely pathogenic
Select item 432059	NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu)	BCKDHB (P332L +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease +2 more	GConflicting classifications of pathogenicity
Select item 96562	NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser)	BCKDHB (G336S +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease type 1A +3 more	GPathogenic/Likely pathogenic
Select item 551982	NM_183050.4(BCKDHB):c.1023del (p.Ser342fs)	BCKDHB (S272fs +1 more)	Deletion (frameshift variant +1 more)	Maple syrup urine disease	GLikely pathogenic
Select item 96564	NM_183050.4(BCKDHB):c.1046G>A (p.Cys349Tyr)	BCKDHB (C349Y +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease +2 more	GPathogenic/Likely pathogenic
Select item 224059	NM_183050.4(BCKDHB):c.1065del (p.Pro356fs)	BCKDHB (P356fs +1 more)	Deletion (frameshift variant +1 more)	Maple syrup urine disease	GPathogenic
Select item 556079	NM_183050.4(BCKDHB):c.1067C>T (p.Pro356Leu)	BCKDHB (P356L +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease type 1A +1 more	GPathogenic
Select item 65770	NM_183050.4(BCKDHB):c.1114G>T (p.Glu372Ter)	BCKDHB (E372* +1 more)	Single nucleotide variant (nonsense +1 more)	Maple syrup urine disease +1 more	GPathogenic/Likely pathogenic
Select item 553268	NM_183050.4(BCKDHB):c.1149T>A (p.Tyr383Ter)	BCKDHB (Y383* +1 more)	Single nucleotide variant (nonsense +1 more)	Maple syrup urine disease	GPathogenic/Likely pathogenic
Select item 555909	NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter)	BCKDHB (R387* +1 more)	Single nucleotide variant (nonsense +1 more)	Maple syrup urine disease +2 more	GPathogenic
Select item 96561	NM_183050.4(BCKDHB):c.*13G>A	BCKDHB	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance

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Items: 61