ClinVar for MedGen (Select 355324) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244864	NC_000010.10:g.(?_124813200)_(124818000_?)del	ACADSB	Deletion	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 3244863	NC_000010.10:g.(?_122842033)_(124813281_?)del	ACADSB, ARMS2 +15 more	Deletion	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GPathogenic
Select item 3075976	NM_001609.4(ACADSB):c.68dup (p.Leu23fs)	ACADSB (L23fs)	Duplication (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely pathogenic
Select item 3061793	NM_001609.4(ACADSB):c.1106T>A (p.Met369Lys)	ACADSB (M267K +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 2997761	NM_001609.4(ACADSB):c.1229G>T (p.Gly410Val)	ACADSB (G308V +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 2991398	NM_001609.4(ACADSB):c.202+1G>C	ACADSB	Single nucleotide variant (splice donor variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely pathogenic
Select item 2914434	NM_001609.4(ACADSB):c.541G>A (p.Ala181Thr)	ACADSB (A79T +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 2899530	NM_001609.4(ACADSB):c.1172del (p.Gly391fs)	ACADSB (G391fs +1 more)	Deletion (frameshift variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GPathogenic
Select item 2883237	NM_001609.4(ACADSB):c.1128+25_1128+26del	ACADSB	Deletion (intron variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GBenign
Select item 2868173	NM_001609.4(ACADSB):c.1255A>T (p.Ile419Phe)	ACADSB (I419F +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 2854456	NM_001609.4(ACADSB):c.1135G>A (p.Gly379Arg)	ACADSB (G277R +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 2828859	NM_001609.4(ACADSB):c.878dup (p.Gly293_Arg294insTer)	ACADSB	Duplication (frameshift variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GPathogenic
Select item 2828858	NM_001609.4(ACADSB):c.356del (p.Leu119fs)	ACADSB (L119fs +1 more)	Deletion (frameshift variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GPathogenic
Select item 2813428	NM_001609.4(ACADSB):c.808-18G>A	ACADSB	Single nucleotide variant (intron variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 2786901	NM_001609.4(ACADSB):c.901-2A>G	ACADSB	Single nucleotide variant (splice acceptor variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely pathogenic
Select item 2754698	NM_001609.4(ACADSB):c.336A>G (p.Gly112=)	ACADSB	Single nucleotide variant (synonymous variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 2753617	NM_001609.4(ACADSB):c.370G>A (p.Val124Met)	ACADSB (V22M +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 2731296	NM_001609.4(ACADSB):c.511-8A>G	ACADSB	Single nucleotide variant (intron variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 2725433	NM_001609.4(ACADSB):c.1056T>C (p.Asn352=)	ACADSB	Single nucleotide variant (synonymous variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 2698831	NM_001609.4(ACADSB):c.542C>T (p.Ala181Val)	ACADSB (A181V +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 2572604	NM_001609.4(ACADSB):c.746del (p.Pro249fs)	ACADSB (P249fs +1 more)	Deletion (frameshift variant)	See cases +1 more	GLikely pathogenic
Select item 2438811	NM_001609.4(ACADSB):c.202+3A>C	ACADSB	Single nucleotide variant (intron variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 2438810	NM_001609.4(ACADSB):c.232C>A (p.Pro78Thr)	ACADSB (P78T)	Single nucleotide variant (missense variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 2438809	NM_001609.4(ACADSB):c.1214G>A (p.Arg405Gln)	ACADSB (R303Q +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 2195993	NM_001609.4(ACADSB):c.8G>A (p.Gly3Asp)	ACADSB (G3D)	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 2185356	NM_001609.4(ACADSB):c.369C>T (p.Leu123=)	ACADSB	Single nucleotide variant (synonymous variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 2166220	NM_001609.4(ACADSB):c.795C>G (p.Phe265Leu)	ACADSB (F163L +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 2154651	NM_001609.4(ACADSB):c.640G>A (p.Ala214Thr)	ACADSB (A112T +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 2153596	NM_001609.4(ACADSB):c.275C>G (p.Ser92Ter)	ACADSB (S92*)	Single nucleotide variant (nonsense +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GPathogenic
Select item 2144580	NM_001609.4(ACADSB):c.939T>C (p.Ile313=)	ACADSB	Single nucleotide variant (synonymous variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 2136958	NM_001609.4(ACADSB):c.1065G>A (p.Arg355=)	ACADSB	Single nucleotide variant (synonymous variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 2121621	NM_001609.4(ACADSB):c.1041A>G (p.Arg347=)	ACADSB	Single nucleotide variant (synonymous variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 2107436	NM_001609.4(ACADSB):c.1228+7A>G	ACADSB	Single nucleotide variant (intron variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 2096944	NM_001609.4(ACADSB):c.436A>T (p.Ile146Phe)	ACADSB (I44F +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 2076191	NM_001609.4(ACADSB):c.736A>G (p.Ile246Val)	ACADSB (I246V +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 2064005	NM_001609.4(ACADSB):c.785C>T (p.Pro262Leu)	ACADSB (P160L +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase +1 more	GUncertain significance
Select item 2062077	NM_001609.4(ACADSB):c.1033G>A (p.Ala345Thr)	ACADSB (A345T +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 2009469	NM_001609.4(ACADSB):c.8G>C (p.Gly3Ala)	ACADSB (G3A)	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 2001202	NM_001609.4(ACADSB):c.6G>A (p.Glu2=)	ACADSB	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 1955653	NM_001609.4(ACADSB):c.901-11T>G	ACADSB	Single nucleotide variant (intron variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 1947471	NM_001609.4(ACADSB):c.710T>C (p.Val237Ala)	ACADSB (V135A +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1938215	NM_001609.4(ACADSB):c.1178G>T (p.Gly393Val)	ACADSB (G291V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1932616	NM_001609.4(ACADSB):c.261G>A (p.Ser87=)	ACADSB	Single nucleotide variant (synonymous variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 1897714	NM_001609.4(ACADSB):c.79A>G (p.Lys27Glu)	ACADSB (K27E)	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1698867	NM_001609.4(ACADSB):c.824del (p.Ile275fs)	ACADSB (I173fs +1 more)	Deletion (frameshift variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely pathogenic
Select item 1642112	NM_001609.4(ACADSB):c.1008G>A (p.Val336=)	ACADSB	Single nucleotide variant (synonymous variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 1623360	NM_001609.4(ACADSB):c.1233G>A (p.Thr411=)	ACADSB	Single nucleotide variant (synonymous variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 1615808	NM_001609.4(ACADSB):c.603C>G (p.Leu201=)	ACADSB	Single nucleotide variant (synonymous variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 1574639	NM_001609.4(ACADSB):c.682-20G>A	ACADSB	Single nucleotide variant (intron variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 1552010	NM_001609.4(ACADSB):c.426G>A (p.Gln142=)	ACADSB	Single nucleotide variant (synonymous variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 1551347	NM_001609.4(ACADSB):c.669A>G (p.Val223=)	ACADSB	Single nucleotide variant (synonymous variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 1541444	NM_001609.4(ACADSB):c.990+11A>T	ACADSB	Single nucleotide variant (intron variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 1536496	NM_001609.4(ACADSB):c.900+7C>G	ACADSB	Single nucleotide variant (intron variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 1521392	NM_001609.4(ACADSB):c.439A>T (p.Asn147Tyr)	ACADSB (N45Y +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase +1 more	GUncertain significance
Select item 1514895	NM_001609.4(ACADSB):c.157C>T (p.Pro53Ser)	ACADSB (P53S)	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1508199	NM_001609.4(ACADSB):c.680T>C (p.Ile227Thr)	ACADSB (I125T +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1503544	NM_001609.4(ACADSB):c.421A>C (p.Ile141Leu)	ACADSB (I39L +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1489705	NM_001609.4(ACADSB):c.1265A>C (p.Asn422Thr)	ACADSB (N320T +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1481374	NM_001609.4(ACADSB):c.923G>A (p.Cys308Tyr)	ACADSB (C308Y +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely pathogenic
Select item 1468786	NM_001609.4(ACADSB):c.803T>C (p.Val268Ala)	ACADSB (V268A +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1467643	NM_001609.4(ACADSB):c.510+13G>C	ACADSB	Single nucleotide variant (intron variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 1463114	NM_001609.4(ACADSB):c.1026G>A (p.Gln342=)	ACADSB	Single nucleotide variant (synonymous variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 1434993	NM_001609.4(ACADSB):c.1100C>T (p.Ala367Val)	ACADSB (A367V +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1410042	NM_001609.4(ACADSB):c.265A>G (p.Met89Val)	ACADSB (M89V)	Single nucleotide variant (missense variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1392942	NM_001609.4(ACADSB):c.733C>T (p.His245Tyr)	ACADSB (H245Y +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1367362	NM_001609.4(ACADSB):c.725C>T (p.Pro242Leu)	ACADSB (P140L +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1358968	NM_001609.4(ACADSB):c.202G>T (p.Val68Phe)	ACADSB (V68F)	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1348511	NM_001609.4(ACADSB):c.13G>A (p.Ala5Thr)	ACADSB (A5T)	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1188993	NM_001609.4(ACADSB):c.1129-90A>G	ACADSB	Single nucleotide variant (intron variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase +1 more	GBenign
Select item 1166420	NC_000010.11:g.123008776G>A	ACADSB, IKZF5 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1159167	NM_001609.4(ACADSB):c.757T>C (p.Leu253=)	ACADSB	Single nucleotide variant (synonymous variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 1134891	NM_001609.4(ACADSB):c.555A>G (p.Ser185=)	ACADSB	Single nucleotide variant (synonymous variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 1132782	NM_001609.4(ACADSB):c.511-6A>G	ACADSB	Single nucleotide variant (intron variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 1124481	NM_001609.4(ACADSB):c.159C>T (p.Pro53=)	ACADSB	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 1122613	NM_001609.4(ACADSB):c.915G>A (p.Ala305=)	ACADSB	Single nucleotide variant (synonymous variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 1102787	NM_001609.4(ACADSB):c.807+10G>A	ACADSB	Single nucleotide variant (intron variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely benign
Select item 1068211	NM_001609.4(ACADSB):c.1128+1_1128+3del	ACADSB	Deletion (splice donor variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely pathogenic
Select item 1066905	NM_001609.4(ACADSB):c.1128+1G>A	ACADSB	Single nucleotide variant (splice donor variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely pathogenic
Select item 1057045	NM_001609.4(ACADSB):c.1138C>G (p.Gln380Glu)	ACADSB (Q278E +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1054106	NM_001609.4(ACADSB):c.796G>A (p.Glu266Lys)	ACADSB (E164K +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1053419	NM_001609.4(ACADSB):c.1014C>G (p.His338Gln)	ACADSB (H236Q +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1037854	NM_001609.4(ACADSB):c.20G>T (p.Arg7Leu)	ACADSB (R7L)	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1032758	NM_001609.4(ACADSB):c.1228+1G>A	ACADSB	Single nucleotide variant (splice donor variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GLikely pathogenic
Select item 1029359	NM_001609.4(ACADSB):c.640G>T (p.Ala214Ser)	ACADSB (A112S +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1024373	NM_001609.4(ACADSB):c.1128+2dup	ACADSB	Duplication (splice donor variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 1003861	NM_001609.4(ACADSB):c.1015G>A (p.Val339Met)	ACADSB (V237M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 947014	NM_001609.4(ACADSB):c.154G>A (p.Ala52Thr)	ACADSB (A52T)	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 880265	NM_001609.4(ACADSB):c.*3332A>T	ACADSB	Single nucleotide variant (3 prime UTR variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 880264	NM_001609.4(ACADSB):c.*3321C>T	ACADSB	Single nucleotide variant (3 prime UTR variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 880263	NM_001609.4(ACADSB):c.*3178A>C	ACADSB	Single nucleotide variant (3 prime UTR variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 880215	NM_001609.4(ACADSB):c.*1865C>T	ACADSB	Single nucleotide variant (3 prime UTR variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 880162	NM_001609.4(ACADSB):c.*263G>A	ACADSB	Single nucleotide variant (3 prime UTR variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 880161	NM_001609.4(ACADSB):c.*195G>A	ACADSB	Single nucleotide variant (3 prime UTR variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 880160	NM_001609.4(ACADSB):c.*133C>G	ACADSB	Single nucleotide variant (3 prime UTR variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase +1 more	GBenign
Select item 880120	NM_001609.4(ACADSB):c.675T>C (p.Pro225=)	ACADSB	Single nucleotide variant (synonymous variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GConflicting classifications of pathogenicity
Select item 880119	NM_001609.4(ACADSB):c.512T>G (p.Val171Gly)	ACADSB (V171G +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 880118	NM_001609.4(ACADSB):c.496C>G (p.Leu166Val)	ACADSB (L166V +1 more)	Single nucleotide variant (missense variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 879094	NM_001609.4(ACADSB):c.*4324G>T	ACADSB	Single nucleotide variant (3 prime UTR variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance
Select item 879049	NM_001609.4(ACADSB):c.*2670C>T	ACADSB	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 879048	NM_001609.4(ACADSB):c.*2581A>C	ACADSB	Single nucleotide variant (3 prime UTR variant)	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GUncertain significance

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