ClinVar for MedGen (Select 355324) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24388111.	NM_001609.4(ACADSB):c.202+3A>C GRCh37: Chr10:124794034 GRCh38: Chr10:123034518	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Jul 23, 2021)	criteria provided, single submitter
Select item 24388102.	NM_001609.4(ACADSB):c.232C>A (p.Pro78Thr) GRCh37: Chr10:124797292 GRCh38: Chr10:123037776	ACADSB	P78T	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Jan 19, 2021)	criteria provided, single submitter
Select item 24388093.	NM_001609.4(ACADSB):c.1214G>A (p.Arg405Gln) GRCh37: Chr10:124812662 GRCh38: Chr10:123053146	ACADSB	R303Q, R405Q	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Jan 22, 2021)	criteria provided, single submitter
Select item 21959934.	NM_001609.4(ACADSB):c.8G>A (p.Gly3Asp) GRCh37: Chr10:124768553 GRCh38: Chr10:123009037	ACADSB	G3D	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 21853565.	NM_001609.4(ACADSB):c.369C>T (p.Leu123=) GRCh37: Chr10:124800047 GRCh38: Chr10:123040531	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 21662206.	NM_001609.4(ACADSB):c.795C>G (p.Phe265Leu) GRCh37: Chr10:124802675 GRCh38: Chr10:123043159	ACADSB	F163L, F265L	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Feb 17, 2022)	criteria provided, single submitter
Select item 21546517.	NM_001609.4(ACADSB):c.640G>A (p.Ala214Thr) GRCh37: Chr10:124800854 GRCh38: Chr10:123041338	ACADSB	A112T, A214T	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 21535968.	NM_001609.4(ACADSB):c.275C>G (p.Ser92Ter) GRCh37: Chr10:124797335 GRCh38: Chr10:123037819	ACADSB	S92*	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Pathogenic (Apr 26, 2022)	criteria provided, single submitter
Select item 21445809.	NM_001609.4(ACADSB):c.939T>C (p.Ile313=) GRCh37: Chr10:124806763 GRCh38: Chr10:123047247	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 213695810.	NM_001609.4(ACADSB):c.1065G>A (p.Arg355=) GRCh37: Chr10:124810639 GRCh38: Chr10:123051123	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 212162111.	NM_001609.4(ACADSB):c.1041A>G (p.Arg347=) GRCh37: Chr10:124810615 GRCh38: Chr10:123051099	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 210743612.	NM_001609.4(ACADSB):c.1228+7A>G GRCh37: Chr10:124812683 GRCh38: Chr10:123053167	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Likely benign (Mar 6, 2022)	criteria provided, single submitter
Select item 209694413.	NM_001609.4(ACADSB):c.436A>T (p.Ile146Phe) GRCh37: Chr10:124800114 GRCh38: Chr10:123040598	ACADSB	I44F, I146F	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 207619114.	NM_001609.4(ACADSB):c.736A>G (p.Ile246Val) GRCh37: Chr10:124802616 GRCh38: Chr10:123043100	ACADSB	I246V, I144V	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 206400515.	NM_001609.4(ACADSB):c.785C>T (p.Pro262Leu) GRCh37: Chr10:124802665 GRCh38: Chr10:123043149	ACADSB	P160L, P262L	Deficiency of 2-methylbutyryl-CoA dehydrogenase, Inborn genetic diseases	Uncertain significance (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 206207716.	NM_001609.4(ACADSB):c.1033G>A (p.Ala345Thr) GRCh37: Chr10:124810607 GRCh38: Chr10:123051091	ACADSB	A345T, A243T	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Dec 28, 2021)	criteria provided, single submitter
Select item 200946917.	NM_001609.4(ACADSB):c.8G>C (p.Gly3Ala) GRCh37: Chr10:124768553 GRCh38: Chr10:123009037	ACADSB	G3A	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 200120218.	NM_001609.4(ACADSB):c.6G>A (p.Glu2=) GRCh37: Chr10:124768551 GRCh38: Chr10:123009035	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 195565319.	NM_001609.4(ACADSB):c.901-11T>G GRCh37: Chr10:124806714 GRCh38: Chr10:123047198	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Likely benign (Aug 26, 2022)	criteria provided, single submitter
Select item 194747120.	NM_001609.4(ACADSB):c.710T>C (p.Val237Ala) GRCh37: Chr10:124802590 GRCh38: Chr10:123043074	ACADSB	V135A, V237A	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Aug 4, 2022)	criteria provided, single submitter
Select item 193821521.	NM_001609.4(ACADSB):c.1178G>T (p.Gly393Val) GRCh37: Chr10:124812626 GRCh38: Chr10:123053110	ACADSB	G291V, G393V	not provided, Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 193261622.	NM_001609.4(ACADSB):c.261G>A (p.Ser87=) GRCh37: Chr10:124797321 GRCh38: Chr10:123037805	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 189771423.	NM_001609.4(ACADSB):c.79A>G (p.Lys27Glu) GRCh37: Chr10:124793908 GRCh38: Chr10:123034392	ACADSB	K27E	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 169886724.	NM_001609.4(ACADSB):c.824del (p.Ile275fs) GRCh37: Chr10:124803925 GRCh38: Chr10:123044409	ACADSB	I173fs, I275fs	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Likely pathogenic (Jul 22, 2021)	criteria provided, single submitter
Select item 164211225.	NM_001609.4(ACADSB):c.1008G>A (p.Val336=) GRCh37: Chr10:124810582 GRCh38: Chr10:123051066	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Likely benign (Mar 25, 2021)	criteria provided, single submitter
Select item 162336026.	NM_001609.4(ACADSB):c.1233G>A (p.Thr411=) GRCh37: Chr10:124813215 GRCh38: Chr10:123053699	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Likely benign (May 8, 2021)	criteria provided, single submitter
Select item 161580827.	NM_001609.4(ACADSB):c.603C>G (p.Leu201=) GRCh37: Chr10:124800817 GRCh38: Chr10:123041301	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Likely benign (Apr 28, 2021)	criteria provided, single submitter
Select item 157463928.	NM_001609.4(ACADSB):c.682-20G>A GRCh37: Chr10:124802542 GRCh38: Chr10:123043026	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Likely benign (Apr 27, 2021)	criteria provided, single submitter
Select item 155201029.	NM_001609.4(ACADSB):c.426G>A (p.Gln142=) GRCh37: Chr10:124800104 GRCh38: Chr10:123040588	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Likely benign (Jul 31, 2021)	criteria provided, single submitter
Select item 155134730.	NM_001609.4(ACADSB):c.669A>G (p.Val223=) GRCh37: Chr10:124800883 GRCh38: Chr10:123041367	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 154144431.	NM_001609.4(ACADSB):c.990+11A>T GRCh37: Chr10:124806825 GRCh38: Chr10:123047309	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Likely benign (Jun 5, 2021)	criteria provided, single submitter
Select item 153649632.	NM_001609.4(ACADSB):c.900+7C>G GRCh37: Chr10:124804008 GRCh38: Chr10:123044492	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 152139233.	NM_001609.4(ACADSB):c.439A>T (p.Asn147Tyr) GRCh37: Chr10:124800117 GRCh38: Chr10:123040601	ACADSB	N45Y, N147Y	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Aug 9, 2021)	criteria provided, single submitter
Select item 151489534.	NM_001609.4(ACADSB):c.157C>T (p.Pro53Ser) GRCh37: Chr10:124793986 GRCh38: Chr10:123034470	ACADSB	P53S	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Jul 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150819935.	NM_001609.4(ACADSB):c.680T>C (p.Ile227Thr) GRCh37: Chr10:124800894 GRCh38: Chr10:123041378	ACADSB	I125T, I227T	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 150354436.	NM_001609.4(ACADSB):c.421A>C (p.Ile141Leu) GRCh37: Chr10:124800099 GRCh38: Chr10:123040583	ACADSB	I39L, I141L	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 148970537.	NM_001609.4(ACADSB):c.1265A>C (p.Asn422Thr) GRCh37: Chr10:124813247 GRCh38: Chr10:123053731	ACADSB	N320T, N422T	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 148137438.	NM_001609.4(ACADSB):c.923G>A (p.Cys308Tyr) GRCh37: Chr10:124806747 GRCh38: Chr10:123047231	ACADSB	C308Y, C206Y	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Likely pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 146878639.	NM_001609.4(ACADSB):c.803T>C (p.Val268Ala) GRCh37: Chr10:124802683 GRCh38: Chr10:123043167	ACADSB	V268A, V166A	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Nov 1, 2021)	criteria provided, single submitter
Select item 146764340.	NM_001609.4(ACADSB):c.510+13G>C GRCh37: Chr10:124800201 GRCh38: Chr10:123040685	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 146311441.	NM_001609.4(ACADSB):c.1026G>A (p.Gln342=) GRCh37: Chr10:124810600 GRCh38: Chr10:123051084	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Likely benign (Feb 28, 2021)	criteria provided, single submitter
Select item 143499342.	NM_001609.4(ACADSB):c.1100C>T (p.Ala367Val) GRCh37: Chr10:124810674 GRCh38: Chr10:123051158	ACADSB	A367V, A265V	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 141004243.	NM_001609.4(ACADSB):c.265A>G (p.Met89Val) GRCh37: Chr10:124797325 GRCh38: Chr10:123037809	ACADSB	M89V	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 139294244.	NM_001609.4(ACADSB):c.733C>T (p.His245Tyr) GRCh37: Chr10:124802613 GRCh38: Chr10:123043097	ACADSB	H245Y, H143Y	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 136736245.	NM_001609.4(ACADSB):c.725C>T (p.Pro242Leu) GRCh37: Chr10:124802605 GRCh38: Chr10:123043089	ACADSB	P140L, P242L	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 135896846.	NM_001609.4(ACADSB):c.202G>T (p.Val68Phe) GRCh37: Chr10:124794031 GRCh38: Chr10:123034515	ACADSB	V68F	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Oct 14, 2021)	criteria provided, single submitter
Select item 134851147.	NM_001609.4(ACADSB):c.13G>A (p.Ala5Thr) GRCh37: Chr10:124768558 GRCh38: Chr10:123009042	ACADSB	A5T	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 118899348.	NM_001609.4(ACADSB):c.1129-90A>G GRCh37: Chr10:124812487 GRCh38: Chr10:123052971	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 116642049.	NM_001372123.1(IKZF5):c.-280C>T GRCh37: Chr10:124768292 GRCh38: Chr10:123008776	ACADSB, IKZF5		Deficiency of 2-methylbutyryl-CoA dehydrogenase, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 115916750.	NM_001609.4(ACADSB):c.757T>C (p.Leu253=) GRCh37: Chr10:124802637 GRCh38: Chr10:123043121	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 113489151.	NM_001609.4(ACADSB):c.555A>G (p.Ser185=) GRCh37: Chr10:124800769 GRCh38: Chr10:123041253	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Likely benign (Jul 25, 2020)	criteria provided, single submitter
Select item 113278252.	NM_001609.4(ACADSB):c.511-6A>G GRCh37: Chr10:124800719 GRCh38: Chr10:123041203	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 112448153.	NM_001609.4(ACADSB):c.159C>T (p.Pro53=) GRCh37: Chr10:124793988 GRCh38: Chr10:123034472	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Likely benign (Aug 26, 2020)	criteria provided, single submitter
Select item 112261354.	NM_001609.4(ACADSB):c.915G>A (p.Ala305=) GRCh37: Chr10:124806739 GRCh38: Chr10:123047223	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 110278755.	NM_001609.4(ACADSB):c.807+10G>A GRCh37: Chr10:124802697 GRCh38: Chr10:123043181	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Likely benign (Dec 24, 2020)	criteria provided, single submitter
Select item 106821156.	NM_001609.4(ACADSB):c.1128+1_1128+3del GRCh37: Chr10:124810703-124810705 GRCh38: Chr10:123051187-123051189	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Likely pathogenic (Feb 28, 2017)	criteria provided, single submitter
Select item 106690557.	NM_001609.4(ACADSB):c.1128+1G>A GRCh37: Chr10:124810703 GRCh38: Chr10:123051187	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Likely pathogenic (Jun 13, 2017)	criteria provided, single submitter
Select item 105704558.	NM_001609.4(ACADSB):c.1138C>G (p.Gln380Glu) GRCh37: Chr10:124812586 GRCh38: Chr10:123053070	ACADSB	Q278E, Q380E	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 105410659.	NM_001609.4(ACADSB):c.796G>A (p.Glu266Lys) GRCh37: Chr10:124802676 GRCh38: Chr10:123043160	ACADSB	E164K, E266K	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 105341960.	NM_001609.4(ACADSB):c.1014C>G (p.His338Gln) GRCh37: Chr10:124810588 GRCh38: Chr10:123051072	ACADSB	H236Q, H338Q	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 103785461.	NM_001609.4(ACADSB):c.20G>T (p.Arg7Leu) GRCh37: Chr10:124768565 GRCh38: Chr10:123009049	ACADSB	R7L	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 103275862.	NM_001609.4(ACADSB):c.1228+1G>A GRCh37: Chr10:124812677 GRCh38: Chr10:123053161	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Likely pathogenic (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102935963.	NM_001609.4(ACADSB):c.640G>T (p.Ala214Ser) GRCh37: Chr10:124800854 GRCh38: Chr10:123041338	ACADSB	A112S, A214S	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Feb 15, 2019)	criteria provided, single submitter
Select item 102437364.	NM_001609.4(ACADSB):c.1128+2dup GRCh37: Chr10:124810703-124810704 GRCh38: Chr10:123051187-123051188	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Oct 5, 2020)	criteria provided, single submitter
Select item 100386165.	NM_001609.4(ACADSB):c.1015G>A (p.Val339Met) GRCh37: Chr10:124810589 GRCh38: Chr10:123051073	ACADSB	V237M, V339M	Inborn genetic diseases, Deficiency of 2-methylbutyryl-CoA dehydrogenase	Conflicting interpretations of pathogenicity (Nov 23, 2021)	criteria provided, conflicting interpretations
Select item 94701466.	NM_001609.4(ACADSB):c.154G>A (p.Ala52Thr) GRCh37: Chr10:124793983 GRCh38: Chr10:123034467	ACADSB	A52T	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 88026567.	NM_001609.4(ACADSB):c.*3332A>T GRCh37: Chr10:124816613 GRCh38: Chr10:123057097	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Mar 16, 2018)	criteria provided, single submitter
Select item 88026468.	NM_001609.4(ACADSB):c.*3321C>T GRCh37: Chr10:124816602 GRCh38: Chr10:123057086	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88026369.	NM_001609.4(ACADSB):c.*3178A>C GRCh37: Chr10:124816459 GRCh38: Chr10:123056943	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88021570.	NM_001609.4(ACADSB):c.*1865C>T GRCh37: Chr10:124815146 GRCh38: Chr10:123055630	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88016271.	NM_001609.4(ACADSB):c.*263G>A GRCh37: Chr10:124813544 GRCh38: Chr10:123054028	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88016172.	NM_001609.4(ACADSB):c.*195G>A GRCh37: Chr10:124813476 GRCh38: Chr10:123053960	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88016073.	NM_001609.4(ACADSB):c.*133C>G GRCh37: Chr10:124813414 GRCh38: Chr10:123053898	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 88012074.	NM_001609.4(ACADSB):c.675T>C (p.Pro225=) GRCh37: Chr10:124800889 GRCh38: Chr10:123041373	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Conflicting interpretations of pathogenicity (Sep 23, 2022)	criteria provided, conflicting interpretations
Select item 88011975.	NM_001609.4(ACADSB):c.512T>G (p.Val171Gly) GRCh37: Chr10:124800726 GRCh38: Chr10:123041210	ACADSB	V171G, V69G	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 88011876.	NM_001609.4(ACADSB):c.496C>G (p.Leu166Val) GRCh37: Chr10:124800174 GRCh38: Chr10:123040658	ACADSB	L166V, L64V	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 87909477.	NM_001609.4(ACADSB):c.*4324G>T GRCh37: Chr10:124817605 GRCh38: Chr10:123058089	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87904978.	NM_001609.4(ACADSB):c.*2670C>T GRCh37: Chr10:124815951 GRCh38: Chr10:123056435	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 87904879.	NM_001609.4(ACADSB):c.*2581A>C GRCh37: Chr10:124815862 GRCh38: Chr10:123056346	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87899680.	NM_001609.4(ACADSB):c.*1827G>A GRCh37: Chr10:124815108 GRCh38: Chr10:123055592	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87899581.	NM_001609.4(ACADSB):c.*1552A>G GRCh37: Chr10:124814833 GRCh38: Chr10:123055317	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87894782.	NM_001609.4(ACADSB):c.*84G>A GRCh37: Chr10:124813365 GRCh38: Chr10:123053849	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87894683.	NM_001609.4(ACADSB):c.1229-15T>G GRCh37: Chr10:124813196 GRCh38: Chr10:123053680	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87889384.	NM_001609.4(ACADSB):c.219G>A (p.Gln73=) GRCh37: Chr10:124797279 GRCh38: Chr10:123037763	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Conflicting interpretations of pathogenicity (Aug 2, 2021)	criteria provided, conflicting interpretations
Select item 87889285.	NM_001609.4(ACADSB):c.-19G>C GRCh37: Chr10:124768527 GRCh38: Chr10:123009011	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87851386.	NM_001609.4(ACADSB):c.*3911A>G GRCh37: Chr10:124817192 GRCh38: Chr10:123057676	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87846087.	NM_001609.4(ACADSB):c.*2224A>G GRCh37: Chr10:124815505 GRCh38: Chr10:123055989	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 87840688.	NM_001609.4(ACADSB):c.*1380G>A GRCh37: Chr10:124814661 GRCh38: Chr10:123055145	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87840589.	NM_001609.4(ACADSB):c.*1326A>G GRCh37: Chr10:124814607 GRCh38: Chr10:123055091	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87840490.	NM_001609.4(ACADSB):c.*972A>G GRCh37: Chr10:124814253 GRCh38: Chr10:123054737	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87835291.	NM_001609.4(ACADSB):c.1219G>A (p.Ala407Thr) GRCh37: Chr10:124812667 GRCh38: Chr10:123053151	ACADSB	A305T, A407T	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87835192.	NM_001609.4(ACADSB):c.1184C>T (p.Thr395Ile) GRCh37: Chr10:124812632 GRCh38: Chr10:123053116	ACADSB	T293I, T395I	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87835093.	NM_001609.4(ACADSB):c.1151A>T (p.Lys384Ile) GRCh37: Chr10:124812599 GRCh38: Chr10:123053083	ACADSB	K384I, K282I	Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Aug 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 87831194.	NM_001609.3(ACADSB):c.-28G>T GRCh37: Chr10:124768518 GRCh38: Chr10:123009002	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87831095.	NM_001609.3(ACADSB):c.-109A>T GRCh37: Chr10:124768437 GRCh38: Chr10:123008921	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87748596.	NM_001609.4(ACADSB):c.*3736G>T GRCh37: Chr10:124817017 GRCh38: Chr10:123057501	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 87748497.	NM_001609.4(ACADSB):c.*3517A>G GRCh37: Chr10:124816798 GRCh38: Chr10:123057282	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87748398.	NM_001609.4(ACADSB):c.*3409A>T GRCh37: Chr10:124816690 GRCh38: Chr10:123057174	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87743799.	NM_001609.4(ACADSB):c.*2086G>A GRCh37: Chr10:124815367 GRCh38: Chr10:123055851	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 877436100.	NM_001609.4(ACADSB):c.*1981G>A GRCh37: Chr10:124815262 GRCh38: Chr10:123055746	ACADSB		Deficiency of 2-methylbutyryl-CoA dehydrogenase	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter

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