List of variants reported as likely pathogenic for inborn disorder of branched-chain amino acid metabolism by Fulgent Genetics, Fulgent Genetics

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 113

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HGVS	dbSNP	gnomAD frequency
NM_001918.5(DBT):c.901C>T (p.Arg301Cys)	rs185492864	0.00025
NM_001352514.2(HLCS):c.1974dup (p.Val659fs)	rs767533946	0.00009
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His)	rs371518124	0.00006
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu)	rs757275923	0.00004
NM_000709.4(BCKDHA):c.996-26A>G	rs757986569	0.00004
NM_001352514.2(HLCS):c.2260dup (p.Ser754fs)	rs766163167	0.00004
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter)	rs146448211	0.00004
NM_001918.5(DBT):c.1018-550A>G	rs796052135	0.00004
NM_183050.4(BCKDHB):c.502C>T (p.Arg168Cys)	rs398124579	0.00004
NM_000108.5(DLD):c.1081A>G (p.Met361Val)	rs121964993	0.00003
NM_000709.4(BCKDHA):c.137C>A (p.Ser46Ter)	rs376456598	0.00003
NM_000709.4(BCKDHA):c.370C>T (p.Arg124Trp)	rs398123499	0.00003
NM_000709.4(BCKDHA):c.890G>A (p.Arg297His)	rs200137189	0.00003
NM_001352514.2(HLCS):c.2121+1G>A	rs1175936807	0.00003
NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs)	rs398124572	0.00003
NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val)	rs375785084	0.00002
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys)	rs781603756	0.00002
NM_183050.4(BCKDHB):c.1016C>T (p.Ser339Leu)	rs398124561	0.00002
NM_000108.5(DLD):c.1463C>T (p.Pro488Leu)	rs121964988	0.00001
NM_000108.5(DLD):c.684+1G>T	rs780025714	0.00001
NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His)	rs398123486	0.00001
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met)	rs398123490	0.00001
NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met)	rs398123503	0.00001
NM_000709.4(BCKDHA):c.647-1G>C	rs753216964	0.00001
NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val)	rs369448982	0.00001
NM_000709.4(BCKDHA):c.745G>A (p.Gly249Ser)	rs137852874	0.00001
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp)	rs137852873	0.00001
NM_000709.4(BCKDHA):c.929C>G (p.Thr310Arg)	rs137852875	0.00001
NM_001352514.2(HLCS):c.1621-2A>G	rs750728042	0.00001
NM_001352514.2(HLCS):c.2182G>A (p.Gly728Ser)	rs119103230	0.00001
NM_001352514.2(HLCS):c.2519G>C (p.Gly840Ala)	rs764148793	0.00001
NM_001352514.2(HLCS):c.2527C>T (p.Gln843Ter)	rs1466111134	0.00001
NM_001918.5(DBT):c.1202T>C (p.Ile401Thr)	rs1449113689	0.00001
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter)	rs751599203	0.00001
NM_183050.4(BCKDHB):c.302G>A (p.Gly101Asp)	rs398124571	0.00001
NM_183050.4(BCKDHB):c.508C>G (p.Arg170Gly)	rs398124581	0.00001
NM_183050.4(BCKDHB):c.526A>T (p.Asn176Tyr)	rs398124582	0.00001
NM_000108.5(DLD):c.1046+1G>T
NM_000108.5(DLD):c.105C>G (p.Tyr35Ter)	rs747810875
NM_000108.5(DLD):c.1141dup (p.Ala381fs)
NM_000108.5(DLD):c.1237-2A>G
NM_000108.5(DLD):c.198+1G>T
NM_000108.5(DLD):c.285_286del (p.His96fs)
NM_000108.5(DLD):c.39+1G>A	rs111257462
NM_000108.5(DLD):c.573del (p.Gly192fs)
NM_000108.5(DLD):c.589G>T (p.Glu197Ter)
NM_000108.5(DLD):c.595dup (p.Thr199fs)
NM_000108.5(DLD):c.633del (p.Val212fs)
NM_000108.5(DLD):c.796C>T (p.Gln266Ter)
NM_000108.5(DLD):c.821dup (p.Leu274fs)	rs751883130
NM_000709.4(BCKDHA):c.1121G>A (p.Trp374Ter)
NM_000709.4(BCKDHA):c.1198A>T (p.Lys400Ter)	rs863225262
NM_000709.4(BCKDHA):c.1280_1282del (p.Leu427_Ala428delinsPro)	rs755691417
NM_000709.4(BCKDHA):c.164del (p.Pro55fs)
NM_000709.4(BCKDHA):c.376-2A>G
NM_000709.4(BCKDHA):c.402del (p.Tyr135fs)
NM_000709.4(BCKDHA):c.454G>A (p.Asp152Asn)	rs2122122610
NM_000709.4(BCKDHA):c.485G>A (p.Gly162Asp)
NM_000709.4(BCKDHA):c.507C>G (p.Tyr169Ter)
NM_000709.4(BCKDHA):c.761C>A (p.Ala254Asp)	rs373713279
NM_000709.4(BCKDHA):c.792C>G (p.Cys264Trp)	rs137852876
NM_000709.4(BCKDHA):c.800A>G (p.Asn267Ser)
NM_000709.4(BCKDHA):c.853G>T (p.Ala285Ser)
NM_000709.4(BCKDHA):c.859C>G (p.Arg287Gly)	rs764247545
NM_000709.4(BCKDHA):c.996-1G>A
NM_001352514.2(HLCS):c.1162G>T (p.Gly388Trp)
NM_001352514.2(HLCS):c.1289del (p.Ser430fs)
NM_001352514.2(HLCS):c.1418G>A (p.Gly473Glu)
NM_001352514.2(HLCS):c.1493del (p.Asn498fs)
NM_001352514.2(HLCS):c.1600dup (p.Tyr534fs)
NM_001352514.2(HLCS):c.1620+2T>G
NM_001352514.2(HLCS):c.1631del (p.Asp544fs)
NM_001352514.2(HLCS):c.1646G>A (p.Trp549Ter)	rs1342457304
NM_001352514.2(HLCS):c.1648_1649insATAAGAGGGATATG (p.Leu550fs)
NM_001352514.2(HLCS):c.1892+2T>C
NM_001352514.2(HLCS):c.1935dup (p.Ala646fs)
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met)	rs119103231
NM_001352514.2(HLCS):c.569_585delinsTTGCTTGAGATTAAGCCTGAGATTAAGG (p.Pro190_Ser195delinsLeuAlaTer)	rs1064796014
NM_001352514.2(HLCS):c.958C>T (p.Gln320Ter)
NM_001918.5(DBT):c.1126C>T (p.Arg376Cys)	rs768389398
NM_001918.5(DBT):c.113_114del (p.Cys38fs)	rs2100844690
NM_001918.5(DBT):c.1259T>C (p.Ile420Thr)
NM_001918.5(DBT):c.1281+1G>A
NM_001918.5(DBT):c.1282-1G>A
NM_001918.5(DBT):c.160del (p.Phe53_Leu54insTer)
NM_001918.5(DBT):c.252-1G>A
NM_001918.5(DBT):c.252G>A (p.Trp84Ter)
NM_001918.5(DBT):c.280C>T (p.Gln94Ter)
NM_001918.5(DBT):c.437C>G (p.Ser146Ter)
NM_001918.5(DBT):c.4del (p.Ala2fs)
NM_001918.5(DBT):c.51+1G>C
NM_001918.5(DBT):c.51+1G>T	rs398123669
NM_183050.4(BCKDHB):c.1039-2A>G	rs2128020522
NM_183050.4(BCKDHB):c.107dup (p.Leu36fs)	rs1769085821
NM_183050.4(BCKDHB):c.1144T>C (p.Cys382Arg)	rs727503822
NM_183050.4(BCKDHB):c.199C>T (p.Gln67Ter)
NM_183050.4(BCKDHB):c.21dup (p.Ala8fs)	rs2127698713
NM_183050.4(BCKDHB):c.272C>T (p.Ala91Val)
NM_183050.4(BCKDHB):c.274+2T>C
NM_183050.4(BCKDHB):c.329T>A (p.Leu110Ter)
NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg)	rs751953459
NM_183050.4(BCKDHB):c.498G>C (p.Lys166Asn)	rs1562104211
NM_183050.4(BCKDHB):c.547C>G (p.Arg183Gly)
NM_183050.4(BCKDHB):c.592_593del (p.Gln198fs)	rs398124586
NM_183050.4(BCKDHB):c.598C>G (p.Pro200Ala)
NM_183050.4(BCKDHB):c.612del (p.Phe204fs)	rs1210649507
NM_183050.4(BCKDHB):c.665A>G (p.Lys222Arg)
NM_183050.4(BCKDHB):c.714dup (p.Glu239Ter)	rs1167005638
NM_183050.4(BCKDHB):c.818C>T (p.Thr273Ile)
NM_183050.4(BCKDHB):c.831G>C (p.Trp277Cys)
NM_183050.4(BCKDHB):c.841-1G>C	rs962489830
NM_183050.4(BCKDHB):c.988G>A (p.Glu330Lys)	rs1224101411
NM_183050.4(BCKDHB):c.991G>A (p.Ala331Thr)	rs1777825845

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