List of variants in gene ACADVL reported as likely pathogenic by Baylor Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 96

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp)	rs146379816	0.00039
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys)	rs151254520	0.00038
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala)	rs904631654	0.00011
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln)	rs147366714	0.00006
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp)	rs771025937	0.00004
NM_000018.4(ACADVL):c.1820G>C (p.Cys607Ser)	rs200117742	0.00004
NM_000018.4(ACADVL):c.1076C>T (p.Ala359Val)	rs539029862	0.00003
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys)	rs771874163	0.00003
NM_000018.4(ACADVL):c.1246G>T (p.Ala416Ser)	rs118204018	0.00003
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp)	rs1085307648	0.00003
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln)	rs534647044	0.00003
NM_000018.4(ACADVL):c.1077G>A (p.Ala359=)	rs779458466	0.00002
NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln)	rs138058572	0.00002
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg)	rs398123079	0.00001
NM_000018.4(ACADVL):c.1045G>A (p.Ala349Thr)	rs1567565733	0.00001
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser)	rs758928307	0.00001
NM_000018.4(ACADVL):c.1146G>C (p.Lys382Asn)	rs1057523504	0.00001
NM_000018.4(ACADVL):c.1198G>A (p.Val400Met)	rs149116708	0.00001
NM_000018.4(ACADVL):c.1268C>A (p.Ser423Ter)	rs1451455641	0.00001
NM_000018.4(ACADVL):c.1269G>A (p.Ser423=)	rs765356942	0.00001
NM_000018.4(ACADVL):c.1368dup (p.Ile457fs)	rs1175359422	0.00001
NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp)	rs766742117	0.00001
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu)	rs200366828	0.00001
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln)	rs200771970	0.00001
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu)	rs750043368	0.00001
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp)	rs1057520088	0.00001
NM_000018.4(ACADVL):c.497_498del (p.Ile166fs)	rs1057516369	0.00001
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)	rs727503791	0.00001
NM_000018.4(ACADVL):c.577G>C (p.Gly193Arg)	rs763630981	0.00001
NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro)	rs398123090	0.00001
NM_000018.4(ACADVL):c.622G>A (p.Gly208Arg)	rs748329498	0.00001
NM_000018.4(ACADVL):c.637G>C (p.Ala213Pro)	rs140629318	0.00001
NM_000018.4(ACADVL):c.652_682dup (p.Ile228fs)	rs746860401	0.00001
NM_000018.4(ACADVL):c.856A>G (p.Arg286Gly)	rs751556332	0.00001
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu)	rs200573371	0.00001
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del)	rs754325237
NM_000018.4(ACADVL):c.1077+1G>A	rs140989450
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC	rs1057516686
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro)	rs776063244
NM_000018.4(ACADVL):c.1145del (p.Lys382fs)	rs1281137823
NM_000018.4(ACADVL):c.1168C>T (p.Gln390Ter)
NM_000018.4(ACADVL):c.1213G>C (p.Asp405His)
NM_000018.4(ACADVL):c.1234C>T (p.Gln412Ter)
NM_000018.4(ACADVL):c.1238T>C (p.Ile413Thr)
NM_000018.4(ACADVL):c.1241A>C (p.Glu414Ala)	rs1597534120
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr)	rs118204018
NM_000018.4(ACADVL):c.1276G>A (p.Ala426Thr)	rs1419478766
NM_000018.4(ACADVL):c.1309A>G (p.Met437Val)	rs2071345754
NM_000018.4(ACADVL):c.1310T>C (p.Met437Thr)	rs2071345821
NM_000018.4(ACADVL):c.1313G>A (p.Gly438Glu)	rs748450834
NM_000018.4(ACADVL):c.1316dup (p.Met440fs)	rs748077880
NM_000018.4(ACADVL):c.1318_1319dup (p.Met440fs)
NM_000018.4(ACADVL):c.1333-2A>T	rs1057517280
NM_000018.4(ACADVL):c.1375C>G (p.Arg459Gly)	rs766742117
NM_000018.4(ACADVL):c.139-1G>A
NM_000018.4(ACADVL):c.139-1G>T	rs1597518019
NM_000018.4(ACADVL):c.1417del (p.Ala473fs)
NM_000018.4(ACADVL):c.1522C>T (p.Gln508Ter)
NM_000018.4(ACADVL):c.1593dup (p.Ser532fs)	rs1060499596
NM_000018.4(ACADVL):c.1612del (p.Arg538fs)	rs1555528937
NM_000018.4(ACADVL):c.1678+1G>T
NM_000018.4(ACADVL):c.1682_1701del (p.Glu561fs)
NM_000018.4(ACADVL):c.175_182del (p.Ala59fs)
NM_000018.4(ACADVL):c.1808del (p.Cys603fs)	rs2142990894
NM_000018.4(ACADVL):c.1839del (p.Ile614fs)
NM_000018.4(ACADVL):c.192del (p.Lys64fs)	rs771055189
NM_000018.4(ACADVL):c.199A>T (p.Lys67Ter)	rs765432568
NM_000018.4(ACADVL):c.228_231dup (p.Phe78fs)
NM_000018.4(ACADVL):c.259_272delinsT (p.Val87fs)
NM_000018.4(ACADVL):c.260T>C (p.Val87Ala)	rs796051907
NM_000018.4(ACADVL):c.265C>T (p.Pro89Ser)
NM_000018.4(ACADVL):c.277+2T>A
NM_000018.4(ACADVL):c.277G>A (p.Val93Met)
NM_000018.4(ACADVL):c.307_323dup (p.Val109fs)	rs1597520263
NM_000018.4(ACADVL):c.365dup (p.Asn122fs)
NM_000018.4(ACADVL):c.388_391dup (p.Thr131fs)
NM_000018.4(ACADVL):c.421dup (p.Ala141fs)	rs2071185652
NM_000018.4(ACADVL):c.477+1G>C	rs2142969951
NM_000018.4(ACADVL):c.479_486del
NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr)	rs375284481
NM_000018.4(ACADVL):c.515T>C (p.Leu172Pro)	rs1597524963
NM_000018.4(ACADVL):c.595_598del (p.Glu199fs)
NM_000018.4(ACADVL):c.603C>A (p.Tyr201Ter)
NM_000018.4(ACADVL):c.604C>G (p.Leu202Val)
NM_000018.4(ACADVL):c.604del (p.Leu202fs)
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro)	rs768975918
NM_000018.4(ACADVL):c.623-2_623-1del	rs1555528265
NM_000018.4(ACADVL):c.626dup (p.Thr210fs)	rs2142976531
NM_000018.4(ACADVL):c.688dup (p.Thr230fs)	rs2071255080
NM_000018.4(ACADVL):c.733G>T (p.Gly245Ter)
NM_000018.4(ACADVL):c.773T>C (p.Ile258Thr)	rs1197133430
NM_000018.4(ACADVL):c.842C>A (p.Ala281Asp)
NM_000018.4(ACADVL):c.869G>A (p.Gly290Asp)
NM_000018.4(ACADVL):c.869dup (p.Ile291fs)	rs886044671
NM_000018.4(ACADVL):c.879-2_879-1del
NM_000018.4(ACADVL):c.916_917del (p.Asn306fs)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.