ClinVar for MedGen (Select 443951) - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1291044	NM_183050.4(BCKDHB):c.197-12dup	BCKDHB	Duplication (intron variant)	not provided	GBenign
Select item 1053087	NM_183050.4(BCKDHB):c.77T>C (p.Leu26Pro)	BCKDHB (L26P)	Single nucleotide variant (missense variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 1044868	NM_183050.4(BCKDHB):c.866C>T (p.Ser289Phe)	BCKDHB (S219F +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease	GUncertain significance
Select item 1016004	NM_183050.4(BCKDHB):c.315A>G (p.Arg105=)	BCKDHB	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 1008229	NM_183050.4(BCKDHB):c.1039-10C>G	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GUncertain significance
Select item 992186	NM_183050.4(BCKDHB):c.1025G>C (p.Ser342Thr)	BCKDHB (S272T +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease type 1B	GUncertain significance
Select item 992185	NM_183050.4(BCKDHB):c.951+4T>C	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GUncertain significance
Select item 992184	NM_183050.4(BCKDHB):c.434C>T (p.Ala145Val)	BCKDHB (A145V +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease +1 more	GUncertain significance
Select item 992183	NM_183050.4(BCKDHB):c.268A>G (p.Thr90Ala)	BCKDHB (T20A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 992182	NM_183050.4(BCKDHB):c.119C>T (p.Ala40Val)	BCKDHB (A40V)	Single nucleotide variant (missense variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 992181	NM_183050.4(BCKDHB):c.79C>T (p.Pro27Ser)	BCKDHB (P27S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 992180	NM_183050.4(BCKDHB):c.36C>G (p.Leu12=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	Maple syrup urine disease type 1B	GUncertain significance
Select item 992179	NM_183050.4(BCKDHB):c.25G>A (p.Gly9Ser)	BCKDHB (G9S)	Single nucleotide variant (missense variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 968447	NM_183050.4(BCKDHB):c.5C>T (p.Ala2Val)	BCKDHB (A2V)	Single nucleotide variant (missense variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 966957	NM_183050.4(BCKDHB):c.10G>A (p.Val4Ile)	BCKDHB (V4I)	Single nucleotide variant (missense variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 966544	NM_183050.4(BCKDHB):c.274+5C>T	BCKDHB	Single nucleotide variant (intron variant)	Maple syrup urine disease	GUncertain significance
Select item 953083	NM_183050.4(BCKDHB):c.1132G>A (p.Asp378Asn)	BCKDHB (D378N +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease	GUncertain significance
Select item 947518	NM_183050.4(BCKDHB):c.895T>A (p.Cys299Ser)	BCKDHB (C299S +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease	GUncertain significance
Select item 938174	NM_183050.4(BCKDHB):c.92T>C (p.Leu31Pro)	BCKDHB (L31P)	Single nucleotide variant (missense variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 928847	NM_183050.4(BCKDHB):c.331C>T (p.Arg111Ter)	BCKDHB (R111* +1 more)	Single nucleotide variant (nonsense +1 more)	Maple syrup urine disease +1 more	GPathogenic
Select item 917659	NM_183050.4(BCKDHB):c.1A>G (p.Met1Val)	BCKDHB (M1V)	Single nucleotide variant (missense variant +3 more)	Maple syrup urine disease	GPathogenic/Likely pathogenic
Select item 861027	NM_183050.4(BCKDHB):c.1038+2T>C	BCKDHB	Single nucleotide variant (splice donor variant)	Maple syrup urine disease	GLikely pathogenic
Select item 844352	NM_183050.4(BCKDHB):c.263A>T (p.Asp88Val)	BCKDHB (D18V +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease	GUncertain significance
Select item 796782	NM_183050.4(BCKDHB):c.33A>T (p.Leu11=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 790932	NM_183050.4(BCKDHB):c.633G>C (p.Lys211Asn)	BCKDHB (K141N +1 more)	Single nucleotide variant (missense variant +1 more)	BCKDHB-related condition +1 more	GConflicting classifications of pathogenicity
Select item 790931	NM_183050.4(BCKDHB):c.411G>A (p.Ala137=)	BCKDHB	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GConflicting classifications of pathogenicity
Select item 771663	NM_183050.4(BCKDHB):c.17C>T (p.Ala6Val)	BCKDHB (A6V)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GLikely benign
Select item 755432	NM_183050.4(BCKDHB):c.36C>T (p.Leu12=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 752848	NM_183050.4(BCKDHB):c.858G>A (p.Glu286=)	BCKDHB	Single nucleotide variant (synonymous variant +1 more)	Maple syrup urine disease	GLikely benign
Select item 752728	NM_183050.4(BCKDHB):c.24C>T (p.Ala8=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 748446	NM_183050.4(BCKDHB):c.90G>A (p.Gly30=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 656501	NM_183050.4(BCKDHB):c.239C>G (p.Ala80Gly)	BCKDHB (A10G +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease	GUncertain significance
Select item 580585	NM_183050.4(BCKDHB):c.564T>A (p.Cys188Ter)	BCKDHB (C188* +1 more)	Single nucleotide variant (nonsense +1 more)	Maple syrup urine disease	GPathogenic
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 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 527134	NM_183050.4(BCKDHB):c.1042G>A (p.Glu348Lys)	BCKDHB (E348K +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease	GUncertain significance
Select item 496569	NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg)	BCKDHB (G135R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
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 457148	NM_183050.4(BCKDHB):c.348del (p.Asp117fs)	BCKDHB (D117fs +1 more)	Deletion (frameshift variant +1 more)	Maple syrup urine disease	GPathogenic
Select item 426394	NM_183050.4(BCKDHB):c.1168A>G (p.Ile390Val)	BCKDHB (I390V +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease +1 more	GUncertain significance
Select item 377557	NM_183050.4(BCKDHB):c.122C>T (p.Thr41Ile)	BCKDHB (T41I)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GBenign
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	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 +1 more	GPathogenic
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 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 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 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 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 210515	NM_183050.4(BCKDHB):c.1119del (p.Phe374fs)	BCKDHB (F304fs +1 more)	Deletion (frameshift variant +1 more)	Maple syrup urine disease type 1B	GLikely pathogenic
Select item 189101	NM_183050.4(BCKDHB):c.93_103dup (p.Phe35fs)	BCKDHB (F35fs)	Microsatellite (frameshift variant +2 more)	Maple syrup urine disease type 1B +1 more	GPathogenic/Likely 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 1B +2 more	GPathogenic/Likely pathogenic
Select item 96618	NM_183050.4(BCKDHB):c.93_103del (p.Ala32fs)	BCKDHB (A32fs)	Microsatellite (frameshift variant +2 more)	Maple syrup urine disease type 1B +2 more	GPathogenic
Select item 96615	NM_183050.4(BCKDHB):c.853C>T (p.Arg285Ter)	BCKDHB (R285* +1 more)	Single nucleotide variant (nonsense +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 +1 more	GPathogenic/Likely pathogenic
Select item 96608	NM_183050.4(BCKDHB):c.752T>C (p.Val251Ala)	BCKDHB (V251A +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease type 1B +2 more	GPathogenic/Likely 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 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 96595	NM_183050.4(BCKDHB):c.547C>T (p.Arg183Trp)	BCKDHB (R183W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 96593	NM_183050.4(BCKDHB):c.526A>T (p.Asn176Tyr)	BCKDHB (N176Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 96587	NM_183050.4(BCKDHB):c.506A>G (p.Tyr169Cys)	BCKDHB (Y169C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 96582	NM_183050.4(BCKDHB):c.365C>T (p.Thr122Ile)	BCKDHB (T122I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 96564	NM_183050.4(BCKDHB):c.1046G>A (p.Cys349Tyr)	BCKDHB (C349Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 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 1B +2 more	GPathogenic/Likely pathogenic
Select item 65771	NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser)	BCKDHB (G278S +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease type 1B +2 more	GPathogenic/Likely pathogenic
Select item 11941	BCKDHB, 8-BP INS, NT1109	BCKDHB	Insertion	Maple syrup urine disease type 1B	GPathogenic
Select item 11940	NM_183050.4(BCKDHB):c.1039-7_1039-4del	BCKDHB	Microsatellite (intron variant)	Maple syrup urine disease	GLikely pathogenic
Select item 11939	NM_183050.4(BCKDHB):c.356T>G (p.Val119Gly)	BCKDHB (V119G +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease type 1B	GPathogenic
Select item 11938	NM_183050.4(BCKDHB):c.616C>T (p.His206Tyr)	BCKDHB (H206Y +1 more)	Single nucleotide variant (missense variant +1 more)	Maple syrup urine disease	GLikely pathogenic
Select item 11937	NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)	BCKDHB (R183P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic

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Items: 70