BCKDHB[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	ADGRB3, ADGRB3-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	AKIRIN2, ANKRD6 +299 more	Copy number loss	See cases	GPathogenic
Select item 155132	GRCh38/hg38 6q14.1(chr6:78661176-80245532)x1	BCKDHB, ELOVL4 +27 more	Copy number loss	See cases	GUncertain significance
Select item 1271069	NC_000006.12:g.80106428G>A	BCKDHB	Single nucleotide variant	not provided	GBenign
Select item 1233609	NC_000006.12:g.80106579T>C	BCKDHB	Single nucleotide variant	not provided	GBenign
Select item 1190086	NM_000056.4(BCKDHB):c.-71C>T	BCKDHB	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 224058	NM_001318975.1(BCKDHB):c.-70_-15+207del	BCKDHB	Deletion (splice donor variant)	Maple syrup urine disease	GPathogenic
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 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 1195927	NM_183050.4(BCKDHB):c.-15C>T	BCKDHB	Single nucleotide variant (5 prime UTR variant +1 more)	Maple syrup urine disease	GUncertain significance
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 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 224057	NM_183050.4(BCKDHB):c.3G>A (p.Met1Ile)	BCKDHB (M1I)	Single nucleotide variant (missense variant +3 more)	Maple syrup urine disease	GPathogenic
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 1592800	NM_183050.4(BCKDHB):c.6G>T (p.Ala2=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 1145214	NM_183050.4(BCKDHB):c.6G>A (p.Ala2=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 1642790	NM_183050.4(BCKDHB):c.9T>A (p.Val3=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 2328927	NM_183050.4(BCKDHB):c.10G>T (p.Val4Leu)	BCKDHB (V4L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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 1122382	NM_183050.4(BCKDHB):c.12A>G (p.Val4=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 2680142	NM_183050.4(BCKDHB):c.14dup (p.Ala6fs)	BCKDHB (A6fs)	Duplication (frameshift variant +3 more)	Maple syrup urine disease	GLikely 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 1122934	NM_183050.4(BCKDHB):c.15G>C (p.Ala5=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 1088902	NM_183050.4(BCKDHB):c.15G>A (p.Ala5=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 771663	NM_183050.4(BCKDHB):c.17C>T (p.Ala6Val)	BCKDHB (A6V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 1613964	NM_183050.4(BCKDHB):c.18G>A (p.Ala6=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 1555745	NM_183050.4(BCKDHB):c.18G>T (p.Ala6=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 1547655	NM_183050.4(BCKDHB):c.18G>C (p.Ala6=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 2421075	NM_183050.4(BCKDHB):c.19G>A (p.Ala7Thr)	BCKDHB (A7T)	Single nucleotide variant (missense variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 1452370	NM_183050.4(BCKDHB):c.21dup (p.Ala8fs)	BCKDHB (A8fs)	Duplication (frameshift variant +2 more)	Maple syrup urine disease	GPathogenic
Select item 2709016	NM_183050.4(BCKDHB):c.21T>A (p.Ala7=)	BCKDHB	Single nucleotide variant (synonymous variant +3 more)	Maple syrup urine disease	GLikely benign
Select item 2145846	NM_183050.4(BCKDHB):c.23C>G (p.Ala8Gly)	BCKDHB (A8G)	Single nucleotide variant (missense variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 1418173	NM_183050.4(BCKDHB):c.25_35dup (p.Arg13fs)	BCKDHB (R13fs)	Duplication (frameshift variant +2 more)	Maple syrup urine disease	GPathogenic
Select item 1144893	NM_183050.4(BCKDHB):c.24C>G (p.Ala8=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 1115249	NM_183050.4(BCKDHB):c.24C>A (p.Ala8=)	BCKDHB	Single nucleotide variant (synonymous variant +2 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 2018920	NM_183050.4(BCKDHB):c.29_32del (p.Trp10fs)	BCKDHB (W10fs)	Microsatellite (frameshift variant +2 more)	Maple syrup urine disease	GPathogenic
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 962563	NM_183050.4(BCKDHB):c.26G>C (p.Gly9Ala)	BCKDHB (G9A)	Single nucleotide variant (missense variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 1087526	NM_183050.4(BCKDHB):c.27C>G (p.Gly9=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 2886376	NM_183050.4(BCKDHB):c.31C>T (p.Leu11=)	BCKDHB	Single nucleotide variant (synonymous variant +3 more)	Maple syrup urine disease	GLikely benign
Select item 1950877	NM_183050.4(BCKDHB):c.33A>C (p.Leu11=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 1923861	NM_183050.4(BCKDHB):c.33A>G (p.Leu11=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	Maple syrup urine disease	GLikely benign
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 96578	NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs)	BCKDHB (L12fs)	Deletion (frameshift variant +2 more)	Maple syrup urine disease type 1A +2 more	GConflicting classifications of pathogenicity
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 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 1715031	NM_183050.4(BCKDHB):c.37A>G (p.Arg13Gly)	BCKDHB (R13G)	Single nucleotide variant (missense variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 2778340	NM_183050.4(BCKDHB):c.39G>A (p.Arg13=)	BCKDHB	Single nucleotide variant (synonymous variant +3 more)	Maple syrup urine disease	GLikely benign
Select item 3240920	NM_183050.4(BCKDHB):c.41_51dup (p.Gly18fs)	BCKDHB (G18fs)	Duplication (frameshift variant +3 more)	Maple syrup urine disease type 1A	GLikely pathogenic
Select item 1092257	NM_183050.4(BCKDHB):c.42C>T (p.Leu14=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 1159274	NM_183050.4(BCKDHB):c.43A>C (p.Arg15=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 1361668	NM_183050.4(BCKDHB):c.47C>A (p.Ala16Glu)	BCKDHB (A16E)	Single nucleotide variant (missense variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 2989113	NM_183050.4(BCKDHB):c.48G>A (p.Ala16=)	BCKDHB	Single nucleotide variant (synonymous variant +3 more)	Maple syrup urine disease	GLikely benign
Select item 1080950	NM_183050.4(BCKDHB):c.48G>C (p.Ala16=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 793956	NM_183050.4(BCKDHB):c.48G>T (p.Ala16=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 568561	NM_183050.4(BCKDHB):c.57_64dup (p.His22fs)	BCKDHB (H22fs)	Duplication (non-coding transcript variant +2 more)	Maple syrup urine disease type 1A +1 more	GPathogenic/Likely pathogenic
Select item 358168	NM_183050.4(BCKDHB):c.51A>G (p.Ala17=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	not provided +2 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 1901302	NM_183050.4(BCKDHB):c.56C>T (p.Ala19Val)	BCKDHB (A19V)	Single nucleotide variant (missense variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 1724915	NM_183050.4(BCKDHB):c.56_57del (p.Ala19fs)	BCKDHB (A19fs)	Deletion (frameshift variant +2 more)	Maple syrup urine disease	GLikely pathogenic
Select item 1101567	NM_183050.4(BCKDHB):c.63G>C (p.Gly21=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 358169	NM_183050.4(BCKDHB):c.63G>T (p.Gly21=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 2761180	NM_183050.4(BCKDHB):c.68G>A (p.Trp23Ter)	BCKDHB (W23*)	Single nucleotide variant (nonsense +3 more)	Maple syrup urine disease	GPathogenic
Select item 653956	NM_183050.4(BCKDHB):c.70_71insTTCCTGGCAGGGGCTGAGGA (p.Arg24delinsLeuProGlyArgGlyTer)	BCKDHB	Insertion (nonsense +2 more)	Maple syrup urine disease	GPathogenic
Select item 1123481	NM_183050.4(BCKDHB):c.72T>G (p.Arg24=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 2982268	NM_183050.4(BCKDHB):c.75del (p.Leu26fs)	BCKDHB (L26fs)	Deletion (frameshift variant +3 more)	Maple syrup urine disease	GPathogenic
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 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 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 96618	NM_183050.4(BCKDHB):c.93_103del (p.Ala32fs)	BCKDHB (A32fs)	Microsatellite (frameshift variant +2 more)	Maple syrup urine disease +3 more	GPathogenic
Select item 2814093	NM_183050.4(BCKDHB):c.81T>C (p.Pro27=)	BCKDHB	Single nucleotide variant (synonymous variant +3 more)	Maple syrup urine disease	GLikely benign
Select item 2967881	NM_183050.4(BCKDHB):c.84C>A (p.Gly28=)	BCKDHB	Single nucleotide variant (synonymous variant +3 more)	Maple syrup urine disease	GLikely benign
Select item 1581741	NM_183050.4(BCKDHB):c.84C>G (p.Gly28=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 263077	NM_183050.4(BCKDHB):c.86C>T (p.Ala29Val)	BCKDHB (A29V)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
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 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 1452253	NM_183050.4(BCKDHB):c.94del (p.Ala32fs)	BCKDHB (A32fs)	Deletion (frameshift variant +2 more)	Maple syrup urine disease	GPathogenic/Likely pathogenic
Select item 2969992	NM_183050.4(BCKDHB):c.96G>C (p.Ala32=)	BCKDHB	Single nucleotide variant (synonymous variant +3 more)	Maple syrup urine disease	GLikely benign
Select item 1120507	NM_183050.4(BCKDHB):c.96G>A (p.Ala32=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	Maple syrup urine disease	GLikely benign
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 2093596	NM_183050.4(BCKDHB):c.101del (p.Gly34fs)	BCKDHB (G34fs)	Deletion (frameshift variant +2 more)	Maple syrup urine disease type 1A +1 more	GPathogenic/Likely pathogenic
Select item 1951695	NM_183050.4(BCKDHB):c.98G>A (p.Arg33Gln)	BCKDHB (R33Q)	Single nucleotide variant (missense variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 2089765	NM_183050.4(BCKDHB):c.99G>A (p.Arg33=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 2194197	NM_183050.4(BCKDHB):c.100G>A (p.Gly34Ser)	BCKDHB (G34S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1136297	NM_183050.4(BCKDHB):c.102C>T (p.Gly34=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 940139	NM_183050.4(BCKDHB):c.107dup (p.Leu36fs)	BCKDHB (L36fs)	Duplication (frameshift variant +2 more)	Maple syrup urine disease	GPathogenic
Select item 1159064	NM_183050.4(BCKDHB):c.111C>T (p.His37=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 2141916	NM_183050.4(BCKDHB):c.114C>T (p.Pro38=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 802244	NM_183050.4(BCKDHB):c.115G>A (p.Ala39Thr)	BCKDHB (A39T)	Single nucleotide variant (missense variant +2 more)	Maple syrup urine disease	GUncertain significance
Select item 1154375	NM_183050.4(BCKDHB):c.117C>T (p.Ala39=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	Maple syrup urine disease	GLikely benign
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 1549976	NM_183050.4(BCKDHB):c.120G>T (p.Ala40=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 1531958	NM_183050.4(BCKDHB):c.120G>A (p.Ala40=)	BCKDHB	Single nucleotide variant (synonymous variant +2 more)	Maple syrup urine disease	GLikely benign
Select item 377557	NM_183050.4(BCKDHB):c.122C>T (p.Thr41Ile)	BCKDHB (T41I)	Single nucleotide variant (missense variant +2 more)	Maple syrup urine disease +1 more	GBenign
Select item 2795361	NM_183050.4(BCKDHB):c.123T>G (p.Thr41=)	BCKDHB	Single nucleotide variant (synonymous variant +3 more)	Maple syrup urine disease	GLikely benign

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