Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000018.4(ACADVL):c.1182+1G>A	SNV Germline	Chr17:7223238	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided	Reviewed By Expert Panel		rs_113690956	13 SubmittersRCV000001689 RCV000210824
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp)	SNV Germline	Chr17:7224966	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided	Reviewed By Expert Panel	CA251903	rs_118204014	15 SubmittersRCV000001690 RCV000185733
NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln)	SNV Germline	Chr17:7223199	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel	CA251906	rs_118204015	5 SubmittersRCV000001695
NM_000018.4(ACADVL):c.1372T>C (p.Phe458Leu)	SNV Germline	Chr17:7224007	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided ACADVL-related disorder	Reviewed By Expert Panel	CA251907	rs_118204017	7 SubmittersRCV000001699 RCV001731269 RCV003914796
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr)	SNV Germline	Chr17:7223707	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel	CA251908	rs_118204018	7 SubmittersRCV000001700
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)	SNV Germline	Chr17:7223984	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided Rhabdomyolysis Abnormal circulating enzyme concentration	Reviewed By Expert Panel	CA251910	rs_118204016	15 SubmittersRCV000001701 RCV000724571 RCV001003625
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met)	SNV Germline	Chr17:7223687	Conflicting classifications of pathogenicity	Inborn genetic diseases Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA312268	rs_113994169	8 SubmittersRCV002514121 RCV000020069
NM_000018.4(ACADVL):c.1284G>A (p.Lys428=)	SNV Germline	Chr17:7223827	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA341515	rs_35501596	5 SubmittersRCV001703416 RCV002381258 RCV000020070
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp)	SNV Germline	Chr17:7223865	Pathogenic	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel	CA220193	rs_2309689	16 SubmittersRCV000077903 RCV000020072
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys)	SNV Germline	Chr17:7224388	Conflicting classifications of pathogenicity	not specified Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA285289	rs_2230180	11 SubmittersRCV000077907 RCV003421925 RCV000020074
NM_000018.4(ACADVL):c.1679-6G>A	SNV Germline	Chr17:7224636	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided ACADVL-related disorder	Reviewed By Expert Panel	CA312281	rs_113994171	11 SubmittersRCV000031857 RCV000185730 RCV003904852
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met)	SNV Germline	Chr17:7222203	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided See cases	Reviewed By Expert Panel	CA341526	rs_113994168	12 SubmittersRCV000020080 RCV000429481 RCV004584334
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)	SNV Germline	Chr17:7222272	Pathogenic	Condition: not provided Inborn genetic diseases See cases ACADVL-related disorder Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel	CA285294	rs_113994167	32 SubmittersRCV000077925 RCV002513135 RCV004584335 RCV004754267 RCV000020081
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg)	SNV Germline	Chr17:7222789	Conflicting classifications of pathogenicity	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications	CA285287	rs_398123079	10 SubmittersRCV000077898 RCV000668860 RCV001174775
NM_000018.4(ACADVL):c.1106T>C (p.Phe369Ser)	SNV Germline	Chr17:7223161	Conflicting classifications of pathogenicity	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA220189	rs_398123080	2 SubmittersRCV000173951 RCV002513812
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr)	SNV Germline	Chr17:7223816	Conflicting classifications of pathogenicity	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications	CA220191	rs_138834083	9 SubmittersRCV000418569 RCV000652034 RCV003114240
NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln)	SNV Germline	Chr17:7224041	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided	Reviewed By Expert Panel	CA220197	rs_398123083	7 SubmittersRCV000169627 RCV000790745
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)	SNV Germline	Chr17:7224663	Pathogenic/Likely pathogenic	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA285290	rs_398123084	13 SubmittersRCV000259048 RCV000813614
NM_000018.4(ACADVL):c.1711G>A (p.Gly571Arg)	SNV Germline	Chr17:7224674	Conflicting classifications of pathogenicity	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA220198	rs_398123085	5 SubmittersRCV000077910 RCV001200766
NM_000018.4(ACADVL):c.436G>C (p.Val146Leu)	SNV Germline	Chr17:7221017	Pathogenic/Likely pathogenic	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA220209	rs_398123089	3 SubmittersRCV000077917 RCV001854368
NM_000018.4(ACADVL):c.520G>A (p.Val174Met)	SNV Germline	Chr17:7221580	Pathogenic/Likely pathogenic	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA220213	rs_369560930	11 SubmittersRCV000077919 RCV000179696
NM_000018.4(ACADVL):c.605T>A (p.Leu202His)	SNV Germline	Chr17:7221665	Conflicting classifications of pathogenicity	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA220214	rs_398123090	4 SubmittersRCV000077920 RCV001001444
NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro)	SNV Germline	Chr17:7221665	Likely pathogenic	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel	CA220216	rs_398123090	8 SubmittersRCV000723640 RCV001200734
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg)	SNV Germline	Chr17:7221993	Likely pathogenic	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency ACADVL-related disorder	Reviewed By Expert Panel	CA220218	rs_398123091	12 SubmittersRCV000077922 RCV000169301 RCV004754294
NM_000018.4(ACADVL):c.753-2A>C	SNV Germline	Chr17:7222175	Likely pathogenic	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel	CA220220	rs_398123092	12 SubmittersRCV000077923 RCV000180449
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)	SNV Germline	Chr17:7221598	Likely pathogenic	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel	CA295584	rs_727503791	10 SubmittersRCV000152735 RCV000675106
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp)	SNV Germline	Chr17:7224379	Conflicting classifications of pathogenicity	Condition: not provided not specified Primary dilated cardiomyopathy Very long chain acyl-CoA dehydrogenase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA233436	rs_146379816	13 SubmittersRCV000185729 RCV001192883 RCV000208321 RCV000652029 RCV004019829
NM_000018.4(ACADVL):c.637G>C (p.Ala213Pro)	SNV Germline	Chr17:7221966	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided	Reviewed By Expert Panel	CA233431	rs_140629318	5 SubmittersRCV000702574 RCV000152737
NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter)	SNV Germline	Chr17:7220124	Pathogenic	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel	CA233425	rs_727503788	11 SubmittersRCV000152732 RCV000985184
NM_000018.4(ACADVL):c.129T>A (p.Gly43=)	SNV Germline	Chr17:7220188	Conflicting classifications of pathogenicity	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA233427	rs_727503789	2 SubmittersRCV000152733 RCV001497556
NM_000018.4(ACADVL):c.1532+1G>A	SNV Germline	Chr17:7224244	Likely pathogenic	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel	CA273297	rs_727503794	3 SubmittersRCV000152740 RCV003453143
NM_000018.4(ACADVL):c.433C>T (p.Gln145Ter)	SNV Germline	Chr17:7221014	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel	CA274436	rs_786204738	4 SubmittersRCV000169585
NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter)	SNV Germline	Chr17:7222014	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided	Reviewed By Expert Panel	CA274078	rs_786204536	7 SubmittersRCV000169238 RCV000579295
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp)	SNV Germline	Chr17:7223208	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided ACADVL-related disorder	Criteria Provided Conflicting Classifications	CA239438	rs_745832866	11 SubmittersRCV000668844 RCV000173952 RCV003927590
NM_000018.4(ACADVL):c.1434+14T>A	SNV Germline	Chr17:7224083	Conflicting classifications of pathogenicity	not specified Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA274996	rs_202217537	10 SubmittersRCV000246029 RCV000174650 RCV000723493 RCV004020070
NM_000018.4(ACADVL):c.1366C>T (p.Arg456Cys)	SNV Germline	Chr17:7224001	Conflicting classifications of pathogenicity	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA240222	rs_794727111	4 SubmittersRCV000174652 RCV000696055
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His)	SNV Germline	Chr17:7224002	Likely pathogenic	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel	CA240224	rs_794727112	7 SubmittersRCV000174653 RCV000410559
NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter)	SNV Germline	Chr17:7223992	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided	Reviewed By Expert Panel	CA274997	rs_794727113	8 SubmittersRCV000174654 RCV000724448
NM_000018.4(ACADVL):c.455G>A (p.Gly152Asp)	SNV Germline	Chr17:7221036	Conflicting classifications of pathogenicity	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA246508	rs_794727772	2 SubmittersRCV000179232 RCV001337172
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr)	SNV Germline	Chr17:7221966	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided Inborn genetic diseases	Reviewed By Expert Panel	CA275413	rs_140629318	9 SubmittersRCV000180089 RCV000723371 RCV002515289
NM_000018.4(ACADVL):c.866G>A (p.Gly289Glu)	SNV Germline	Chr17:7222290	Conflicting classifications of pathogenicity	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA247926	rs_778514103	3 SubmittersRCV000180450 RCV001200696
NM_000018.4(ACADVL):c.343-1G>A	SNV Germline/somatic	Chr17:7220923	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided	Reviewed By Expert Panel		rs_1555527877	5 SubmittersRCV001200672 RCV002250361
NM_000018.4(ACADVL):c.427G>A (p.Gly143Ser)	SNV Germline	Chr17:7221008	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_794727773	1 SubmittersRCV001990553
NM_000018.4(ACADVL):c.482C>T (p.Ala161Val)	SNV Germline	Chr17:7221542	Conflicting classifications of pathogenicity	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA312251	rs_796051908	2 SubmittersRCV000185711 RCV000675132
NM_000018.4(ACADVL):c.535G>T (p.Gly179Trp)	SNV Germline	Chr17:7221595	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications		rs_796051909	3 SubmittersRCV000671223 RCV002282015
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser)	SNV Germline	Chr17:7221613	Likely pathogenic	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency ACADVL-related disorder	Reviewed By Expert Panel	CA312291	rs_545215807	13 SubmittersRCV000185742 RCV000412436 RCV003416111
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln)	SNV Germline	Chr17:7222735	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA312260	rs_147366714	8 SubmittersRCV000555764 RCV000755205
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys)	SNV Germline	Chr17:7223151	Pathogenic/Likely pathogenic	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA312264	rs_771874163	13 SubmittersRCV000185719 RCV000675110
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His)	SNV Germline	Chr17:7223152	Likely pathogenic	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel	CA312265	rs_112406105	11 SubmittersRCV000185720 RCV000411732
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser)	SNV Germline	Chr17:7223182	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA312266	rs_758928307	6 SubmittersRCV000652042
NM_000018.4(ACADVL):c.1316G>A (p.Gly439Asp)	SNV Germline	Chr17:7223859	Pathogenic	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA312270	rs_533055438	6 SubmittersRCV000185723 RCV000703664
NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp)	SNV Germline	Chr17:7224010	Conflicting classifications of pathogenicity	not specified Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA312274	rs_766742117	5 SubmittersRCV000506090 RCV000652041
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln)	SNV Germline	Chr17:7224011	Pathogenic	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency Myopathy Rhabdomyolysis Inborn genetic diseases ACADVL-related disorder	Reviewed By Expert Panel	CA312275	rs_751995154	16 SubmittersRCV000185726 RCV000412089 RCV000414939 RCV002516958 RCV003407682
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln)	SNV Germline	Chr17:7224243	Pathogenic/Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA312279	rs_200771970	7 SubmittersRCV000410771 RCV000595069
NM_000018.4(ACADVL):c.1613G>C (p.Arg538Pro)	SNV Germline	Chr17:7224487	Conflicting classifications of pathogenicity	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications	CA8338191	rs_201350598	7 SubmittersRCV000224776 RCV001200783 RCV004782317
NM_000018.4(ACADVL):c.1820G>A (p.Cys607Tyr)	SNV Germline	Chr17:7224877	Conflicting classifications of pathogenicity	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA10581272	rs_200117742	3 SubmittersRCV000224548 RCV001200778
NM_000018.4(ACADVL):c.1828-4C>G	SNV Germline	Chr17:7224953	Conflicting classifications of pathogenicity	not specified Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA8338291	rs_184559206	7 SubmittersRCV000251264 RCV000549028 RCV001706283
NM_000018.4(ACADVL):c.1839G>A (p.Arg613=)	SNV Germline	Chr17:7224968	Conflicting classifications of pathogenicity	not specified Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided ACADVL-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8338296	rs_79125791	8 SubmittersRCV000243077 RCV000360248 RCV001705322 RCV003891825 RCV004020994
NM_000018.4(ACADVL):c.678C>A (p.Ala226=)	SNV Germline	Chr17:7222007	Conflicting classifications of pathogenicity	not specified Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA8337808	rs_372114185	4 SubmittersRCV000341809 RCV000725178 RCV001271776
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg)	SNV Germline	Chr17:7223871	Conflicting classifications of pathogenicity	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA10605275	rs_886043236	5 SubmittersRCV000327267 RCV000673223
NM_000018.4(ACADVL):c.-36A>G	SNV Germline	Chr17:7219949	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency not specified ACADVL-related disorder	Criteria Provided Conflicting Classifications	CA8337501	rs_372592554	5 SubmittersRCV000398787 RCV000434907 RCV003910240
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly)	SNV Germline	Chr17:7222080	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency ACADVL-related disorder	Criteria Provided Conflicting Classifications	CA10640460	rs_749159573	7 SubmittersRCV000373221 RCV004754390
NM_000018.4(ACADVL):c.205-7T>C	SNV Germline	Chr17:7220597	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA8337599	rs_760625298	2 SubmittersRCV000325779
NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr)	SNV Germline	Chr17:7221541	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency ACADVL-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA8337740	rs_375284481	8 SubmittersRCV000271784 RCV004754389 RCV004719799
NM_000018.4(ACADVL):c.1581G>A (p.Pro527=)	SNV Germline	Chr17:7224369	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency not specified Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA8338160	rs_149436747	6 SubmittersRCV000309125 RCV000612544 RCV002402045 RCV003221917
NM_000018.4(ACADVL):c.205-8C>G	SNV Germline	Chr17:7220596	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA8337598	rs_774353448	3 SubmittersRCV000270843
NM_000018.4(ACADVL):c.1824C>T (p.Ile608=)	SNV Germline	Chr17:7224881	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided Inborn genetic diseases ACADVL-related disorder	Criteria Provided Conflicting Classifications	CA8338276	rs_146115467	8 SubmittersRCV000324256 RCV001718680 RCV002411220 RCV003969923
NM_000018.4(ACADVL):c.180G>C (p.Leu60=)	SNV Germline	Chr17:7220505	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA10650873	rs_886053372	2 SubmittersRCV000315448
NM_000018.4(ACADVL):c.969G>A (p.Leu323=)	SNV Germline	Chr17:7222757	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA8337918	rs_749734276	2 SubmittersRCV000338520
NM_000018.4(ACADVL):c.1473A>G (p.Leu491=)	SNV Germline	Chr17:7224184	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8338126	rs_150518187	7 SubmittersRCV000362559 RCV000428813 RCV001311108 RCV002392878
NM_000018.4(ACADVL):c.138+2T>C	SNV Germline	Chr17:7220199	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA16041857	rs_1057516817	3 SubmittersRCV000410269
NM_000018.4(ACADVL):c.277+1G>T	SNV Unknown	Chr17:7220677	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA16041858	rs_1057517012	1 SubmittersRCV000412197
NM_000018.4(ACADVL):c.478-1G>C	SNV Unknown	Chr17:7221537	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA16041860	rs_1057517130	1 SubmittersRCV000411583
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg)	SNV Germline	Chr17:7222289	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided	Reviewed By Expert Panel	CA8337873	rs_200788251	11 SubmittersRCV000408960 RCV000489455
NM_000018.4(ACADVL):c.1077+1G>T	SNV Germline	Chr17:7222866	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided	Reviewed By Expert Panel	CA16041867	rs_140989450	8 SubmittersRCV000412397 RCV004597792
NM_000018.4(ACADVL):c.1077+2T>C	SNV Germline	Chr17:7222867	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided	Reviewed By Expert Panel	CA16041868	rs_1057516370	8 SubmittersRCV000411047 RCV001090638
NM_000018.4(ACADVL):c.1183-1G>A	SNV Unknown	Chr17:7223643	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA16041871	rs_1057516818	1 SubmittersRCV000409279
NM_000018.4(ACADVL):c.1280G>A (p.Trp427Ter)	SNV Germline	Chr17:7223823	Pathogenic/Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA16041872	rs_1057516519	3 SubmittersRCV000412097
NM_000018.4(ACADVL):c.1333-2A>T	SNV Unknown	Chr17:7223966	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA16041873	rs_1057517280	2 SubmittersRCV000411741
NM_000018.4(ACADVL):c.1532+2T>C	SNV Germline	Chr17:7224245	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel	CA16041875	rs_111851815	5 SubmittersRCV000411534
NM_000018.4(ACADVL):c.1606-1G>A	SNV Unknown	Chr17:7224479	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA16041876	rs_1057517386	1 SubmittersRCV000411804
NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln)	SNV Germline	Chr17:7223993	Likely pathogenic	Myopathy Rhabdomyolysis Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided	Reviewed By Expert Panel	CA8338089	rs_138058572	9 SubmittersRCV000415274 RCV001075888 RCV001091164
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp)	SNV Germline	Chr17:7220945	Likely pathogenic	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel	CA16603209	rs_1057520088	9 SubmittersRCV000432463 RCV000690847
NM_000018.4(ACADVL):c.1146G>C (p.Lys382Asn)	SNV Germline	Chr17:7223201	Conflicting classifications of pathogenicity	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications	CA16607872	rs_1057523504	5 SubmittersRCV000432798 RCV001200751 RCV004701479
NM_000018.4(ACADVL):c.1751+18G>A	SNV Germline	Chr17:7224732	Conflicting classifications of pathogenicity	not specified Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA8338238	rs_528002997	4 SubmittersRCV000432937 RCV000671356
NM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter)	SNV Germline	Chr17:7224972	Likely pathogenic	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel	CA16608642	rs_1057520507	9 SubmittersRCV000438504 RCV000537328
NM_000018.4(ACADVL):c.1013A>G (p.Asn338Ser)	SNV Germline	Chr17:7222801	Conflicting classifications of pathogenicity	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications	CA287437666	rs_956279629	3 SubmittersRCV000489160 RCV001041886 RCV004701548
NM_000018.4(ACADVL):c.1019G>T (p.Gly340Val)	SNV Germline	Chr17:7222807	Conflicting classifications of pathogenicity	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency ACADVL-related disorder	Criteria Provided Conflicting Classifications	CA287437667	rs_934797393	6 SubmittersRCV000489813 RCV000555492 RCV003392319
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp)	SNV Germline	Chr17:7224711	Conflicting classifications of pathogenicity	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency ACADVL-related disorder	Criteria Provided Conflicting Classifications	CA397725790	rs_1085307648	7 SubmittersRCV000489971 RCV000675075 RCV003409673
NM_000018.4(ACADVL):c.533T>C (p.Leu178Pro)	SNV Germline	Chr17:7221593	Conflicting classifications of pathogenicity	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA397723106	rs_1131691808	5 SubmittersRCV000493429 RCV001200737 RCV002524042
NM_000018.4(ACADVL):c.1434G>A (p.Met478Ile)	SNV Germline	Chr17:7224069	Conflicting classifications of pathogenicity	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications	CA8338099	rs_775537775	7 SubmittersRCV000494132 RCV001200759 RCV002298622
NM_000018.4(ACADVL):c.62+6T>C	SNV Germline	Chr17:7220052	Likely pathogenic	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA645372604	rs_1555527495	2 SubmittersRCV000498130 RCV000664668
NM_000018.4(ACADVL):c.953C>T (p.Pro318Leu)	SNV Germline	Chr17:7222741	Likely pathogenic	not specified Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel	CA287437583	rs_201676770	3 SubmittersRCV000506254 RCV000529486
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro)	SNV Germline	Chr17:7223158	Conflicting classifications of pathogenicity	not specified Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA8337965	rs_776063244	7 SubmittersRCV000507714 RCV000558671 RCV000726785
NM_000018.4(ACADVL):c.1183-15A>G	SNV Germline	Chr17:7223629	Pathogenic/Likely pathogenic	not specified Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA8338032	rs_765390290	5 SubmittersRCV000506806 RCV000668926 RCV001570475
NM_000018.4(ACADVL):c.1606-22C>T	SNV Germline	Chr17:7224458	Conflicting classifications of pathogenicity	not specified Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA8338184	rs_370303265	3 SubmittersRCV000506906 RCV000671330
NM_000018.4(ACADVL):c.1077+1G>A	SNV Germline	Chr17:7222866	Likely pathogenic	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel	CA287437693	rs_140989450	7 SubmittersRCV000520772 RCV000666633
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu)	SNV Germline	Chr17:7224023	Conflicting classifications of pathogenicity	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA8338091	rs_200366828	6 SubmittersRCV000522607 RCV000809103
NM_000018.4(ACADVL):c.652G>A (p.Glu218Lys)	SNV Germline	Chr17:7221981	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel	CA397723393	rs_1432183079	5 SubmittersRCV000556767
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala)	SNV Germline	Chr17:7223681	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided Inborn genetic diseases	Reviewed By Expert Panel	CA287439291	rs_904631654	8 SubmittersRCV000544920 RCV001591287 RCV004024301
NM_000018.4(ACADVL):c.1253G>A (p.Ser418Asn)	SNV Germline	Chr17:7223714	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA397724694	rs_1555528737	1 SubmittersRCV000548112
NM_000018.4(ACADVL):c.1313G>A (p.Gly438Glu)	SNV Germline	Chr17:7223856	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA397724846	rs_748450834	3 SubmittersRCV000551302
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys)	SNV Germline	Chr17:7225023	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA8338308	rs_151254520	9 SubmittersRCV000525816 RCV001532300 RCV002248780
NM_000018.4(ACADVL):c.342+1G>C	SNV Germline	Chr17:7220831	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel	CA397722627	rs_780020193	3 SubmittersRCV000556138
NM_000018.4(ACADVL):c.753-27C>T	SNV Germline	Chr17:7222150	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency not specified Condition: not provided ACADVL-related disorder	Criteria Provided Conflicting Classifications	CA8337840	rs_374911841	6 SubmittersRCV000550616 RCV000603826 RCV003311848 RCV003935524
NM_000018.4(ACADVL):c.1239A>G (p.Ile413Met)	SNV Germline	Chr17:7223700	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8338045	rs_143172658	6 SubmittersRCV000537897 RCV001508431 RCV003258873
NM_000018.4(ACADVL):c.63-2A>C	SNV Germline	Chr17:7220120	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel	CA397722016	rs_1555527513	4 SubmittersRCV000531909
NM_000018.4(ACADVL):c.1533-4T>A	SNV Germline	Chr17:7224317	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications	CA8338148	rs_369986567	6 SubmittersRCV000547159 RCV000604631
NM_000018.4(ACADVL):c.1820G>C (p.Cys607Ser)	SNV Germline	Chr17:7224877	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA8338274	rs_200117742	4 SubmittersRCV000534253
NM_000018.4(ACADVL):c.1678+15C>T	SNV Germline	Chr17:7224567	Conflicting classifications of pathogenicity	not specified Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA8338207	rs_371402802	6 SubmittersRCV000616516 RCV000671363
NM_000018.4(ACADVL):c.1182+3G>A	SNV Germline	Chr17:7223240	Conflicting classifications of pathogenicity	not specified Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA658798686	rs_376281637	2 SubmittersRCV000610876 RCV002528554
NM_000018.4(ACADVL):c.1434+14T>C	SNV Germline	Chr17:7224083	Conflicting classifications of pathogenicity	not specified Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA8338103	rs_202217537	3 SubmittersRCV000604141 RCV001200729
NM_000018.4(ACADVL):c.431T>C (p.Leu144Pro)	SNV Germline	Chr17:7221012	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter	CA397722889	rs_1555527925	1 SubmittersRCV000652038
NM_000018.4(ACADVL):c.1076C>T (p.Ala359Val)	SNV Germline	Chr17:7222864	Pathogenic/Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA8337933	rs_539029862	8 SubmittersRCV000652045 RCV001200112
NM_000018.4(ACADVL):c.1678+23C>T	SNV Germline	Chr17:7224575	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided ACADVL-related disorder	Criteria Provided Conflicting Classifications	CA8338211	rs_147546456	7 SubmittersRCV000652047 RCV001559679 RCV003937977
NM_000018.4(ACADVL):c.1878G>A (p.Trp626Ter)	SNV Germline	Chr17:7225007	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA397726083	rs_1555529186	6 SubmittersRCV000652044 RCV002293468
NM_000018.4(ACADVL):c.1077G>A (p.Ala359=)	SNV Germline	Chr17:7222865	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA8337934	rs_779458466	6 SubmittersRCV000652035 RCV004597849
NM_000018.4(ACADVL):c.1376G>C (p.Arg459Pro)	SNV Germline	Chr17:7224011	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications	CA397724983	rs_751995154	3 SubmittersRCV000652030 RCV004768511
NM_000018.4(ACADVL):c.1613G>A (p.Arg538Gln)	SNV Germline	Chr17:7224487	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA8338192	rs_201350598	4 SubmittersRCV000652027 RCV003303075 RCV004792340
NM_000018.4(ACADVL):c.138+1G>A	SNV Germline	Chr17:7220198	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel		rs_747351687	5 SubmittersRCV000665642
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu)	SNV Germline	Chr17:7220626	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_750043368	8 SubmittersRCV000669555 RCV001731870 RCV002531230
NM_000018.4(ACADVL):c.398G>A (p.Trp133Ter)	SNV Unknown	Chr17:7220979	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_1555527907	1 SubmittersRCV000675043
NM_000018.4(ACADVL):c.603C>G (p.Tyr201Ter)	SNV Germline	Chr17:7221663	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel		rs_371407903	5 SubmittersRCV000670134
NM_000018.4(ACADVL):c.739A>G (p.Lys247Glu)	SNV Germline	Chr17:7222068	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_387906253	2 SubmittersRCV000668561
NM_000018.4(ACADVL):c.1246G>T (p.Ala416Ser)	SNV Germline	Chr17:7223707	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_118204018	4 SubmittersRCV000668964
NM_000018.4(ACADVL):c.1360G>A (p.Asp454Asn)	SNV Germline	Chr17:7223995	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_1419606204	4 SubmittersRCV000668005
NM_000018.4(ACADVL):c.3G>A (p.Met1Ile)	SNV Unknown	Chr17:7219987	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_768236474	1 SubmittersRCV000671153
NM_000018.4(ACADVL):c.62+9G>A	SNV Germline	Chr17:7220055	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency ACADVL-related disorder	Criteria Provided Conflicting Classifications		rs_369512281	5 SubmittersRCV000671685 RCV003953226
NM_000018.4(ACADVL):c.1434+2T>G	SNV Unknown	Chr17:7224071	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_1555528804	1 SubmittersRCV000669283
NM_000018.4(ACADVL):c.63-18A>G	SNV Germline	Chr17:7220104	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_1481782237	2 SubmittersRCV000670892
NM_000018.4(ACADVL):c.256C>T (p.Gln86Ter)	SNV Unknown	Chr17:7220655	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_1555527732	1 SubmittersRCV000667158
NM_000018.4(ACADVL):c.1606-2A>C	SNV Unknown	Chr17:7224478	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_113467582	1 SubmittersRCV000671155
NM_000018.4(ACADVL):c.278-8C>T	SNV Germline	Chr17:7220758	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_1178133251	2 SubmittersRCV000671740
NM_000018.4(ACADVL):c.1923G>C (p.Leu641Phe)	SNV Germline	Chr17:7225052	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_1452402269	2 SubmittersRCV000668695
NM_000018.4(ACADVL):c.1182+2T>C	SNV Unknown	Chr17:7223239	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_1555528635	1 SubmittersRCV000667334
NM_000018.4(ACADVL):c.277+2T>G	SNV Germline	Chr17:7220678	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel		rs_1555527745	3 SubmittersRCV000672219
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro)	SNV Germline	Chr17:7221679	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel		rs_768975918	6 SubmittersRCV000666689
NM_000018.4(ACADVL):c.898A>G (p.Met300Val)	SNV Germline	Chr17:7222686	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications		rs_1026112888	4 SubmittersRCV000665146 RCV004526736
NM_000018.4(ACADVL):c.956C>A (p.Ser319Ter)	SNV Germline	Chr17:7222744	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency ACADVL-related disorder	Reviewed By Expert Panel		rs_149467828	5 SubmittersRCV000673848 RCV003420192
NM_000018.4(ACADVL):c.1198G>A (p.Val400Met)	SNV Germline	Chr17:7223659	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency ACADVL-related disorder	Criteria Provided Conflicting Classifications		rs_149116708	6 SubmittersRCV000666127 RCV004754523
NM_000018.4(ACADVL):c.1269+1G>A	SNV Germline	Chr17:7223731	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel		rs_773401248	6 SubmittersRCV000671502
NM_000018.4(ACADVL):c.1217A>C (p.Gln406Pro)	SNV Germline	Chr17:7223678	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_1384021857	3 SubmittersRCV000685865
NM_000018.4(ACADVL):c.374T>C (p.Leu125Pro)	SNV Germline	Chr17:7220955	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_1416443472	2 SubmittersRCV000706914
NM_000018.4(ACADVL):c.1269G>A (p.Ser423=)	SNV Germline	Chr17:7223730	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_765356942	3 SubmittersRCV000690205
NM_000018.4(ACADVL):c.1024T>C (p.Phe342Leu)	SNV Germline	Chr17:7222812	Conflicting classifications of pathogenicity	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications		rs_1356652354	4 SubmittersRCV000727590 RCV001200831 RCV003489845
NM_000018.4(ACADVL):c.-11G>T	SNV Germline	Chr17:7219974	Conflicting classifications of pathogenicity	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_780021266	2 SubmittersRCV000729633 RCV004720278
NM_000018.4(ACADVL):c.199A>T (p.Lys67Ter)	SNV Germline	Chr17:7220524	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel		rs_765432568	6 SubmittersRCV000989692
NM_000018.4(ACADVL):c.428G>A (p.Gly143Asp)	SNV Germline	Chr17:7221009	Conflicting classifications of pathogenicity	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency ACADVL-related disorder	Criteria Provided Conflicting Classifications		rs_1458941582	4 SubmittersRCV000756958 RCV001200815 RCV004754556
NM_000018.4(ACADVL):c.485G>A (p.Arg162His)	SNV Germline	Chr17:7221545	Conflicting classifications of pathogenicity	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_754756970	4 SubmittersRCV000755780 RCV000820712
NM_000018.4(ACADVL):c.1287G>A (p.Val429=)	SNV Germline	Chr17:7223830	Conflicting classifications of pathogenicity	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_999226548	2 SubmittersRCV000756954 RCV002061028
NM_000018.4(ACADVL):c.1616C>A (p.Ala539Asp)	SNV Germline	Chr17:7224490	Conflicting classifications of pathogenicity	not specified Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_781613690	8 SubmittersRCV004702391 RCV001200762 RCV001731917
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln)	SNV Germline	Chr17:7224967	Pathogenic/Likely pathogenic	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_534647044	6 SubmittersRCV000756953 RCV001060887
NM_000018.4(ACADVL):c.1751+1G>A	SNV Germline	Chr17:7224715	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_1567569262	3 SubmittersRCV000761524
NM_000018.4(ACADVL):c.689C>T (p.Thr230Ile)	SNV Germline	Chr17:7222018	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications		rs_1241935771	4 SubmittersRCV000792876 RCV004800588
NM_000018.4(ACADVL):c.1064T>C (p.Ile355Thr)	SNV Germline	Chr17:7222852	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications		rs_1351976589	3 SubmittersRCV000813585 RCV003226399
NM_000018.4(ACADVL):c.1276G>A (p.Ala426Thr)	SNV Germline	Chr17:7223819	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_1419478766	3 SubmittersRCV000817166
NM_000018.4(ACADVL):c.1294G>T (p.Glu432Ter)	SNV Germline	Chr17:7223837	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel		rs_1597534677	2 SubmittersRCV000817615
NM_000018.4(ACADVL):c.1332G>A (p.Lys444=)	SNV Germline	Chr17:7223875	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_1597534796	2 SubmittersRCV000813712
NM_000018.4(ACADVL):c.1534C>T (p.Arg512Trp)	SNV Germline	Chr17:7224322	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_371316167	4 SubmittersRCV000808814 RCV002537298
NM_000018.4(ACADVL):c.1751+2T>C	SNV Germline	Chr17:7224716	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_1597539537	1 SubmittersRCV000793280
NM_000018.4(ACADVL):c.205-2A>G	SNV Germline	Chr17:7220602	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_1597518954	1 SubmittersRCV000800818
NM_000018.4(ACADVL):c.139-1G>T	SNV Germline	Chr17:7220463	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_1597518019	2 SubmittersRCV000801039
NM_000018.4(ACADVL):c.1605+2T>C	SNV Germline	Chr17:7224395	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel		rs_1597537351	3 SubmittersRCV000812878
NM_000018.4(ACADVL):c.780G>A (p.Thr260=)	SNV Germline	Chr17:7222204	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided Inborn genetic diseases ACADVL-related disorder	Criteria Provided Conflicting Classifications		rs_140871321	6 SubmittersRCV000877108 RCV001644854 RCV003169201 RCV003908340
NM_000018.4(ACADVL):c.963C>T (p.Asn321=)	SNV Germline	Chr17:7222751	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications		rs_568118142	6 SubmittersRCV000873096 RCV002372473 RCV003424413
NM_000018.4(ACADVL):c.1575C>A (p.Val525=)	SNV Germline	Chr17:7224363	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_745996278	5 SubmittersRCV000966526 RCV003311926 RCV002391010
NM_000018.4(ACADVL):c.1605+7G>A	SNV Germline	Chr17:7224400	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_572010910	4 SubmittersRCV000939802 RCV001091166
NM_000018.4(ACADVL):c.1827+10G>A	SNV Germline	Chr17:7224894	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_766755156	2 SubmittersRCV001200730
NM_000018.4(ACADVL):c.1322G>C (p.Gly441Ala)	SNV Germline	Chr17:7223865	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_2309689	2 SubmittersRCV000989694
NM_000018.4(ACADVL):c.515T>C (p.Leu172Pro)	SNV Germline	Chr17:7221575	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel		rs_1597524963	4 SubmittersRCV000995475
NM_000018.4(ACADVL):c.623-1G>A	SNV Germline	Chr17:7221951	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel		rs_1597526782	3 SubmittersRCV001001446
NM_000018.4(ACADVL):c.1194C>A (p.Tyr398Ter)	SNV Germline	Chr17:7223655	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel		rs_1597533847	3 SubmittersRCV001000184
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp)	SNV Germline	Chr17:7224242	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_771025937	6 SubmittersRCV001000161 RCV004792601
NM_000018.4(ACADVL):c.37C>T (p.Gln13Ter)	SNV Germline	Chr17:7220021	Pathogenic	Rhabdomyolysis Abnormal circulating enzyme concentration Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel		rs_63750670	2 SubmittersRCV001003624 RCV002472377
NM_000018.4(ACADVL):c.1241A>C (p.Glu414Ala)	SNV Germline	Chr17:7223702	Pathogenic/Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_1597534120	4 SubmittersRCV001028002
NM_000018.4(ACADVL):c.419G>A (p.Gly140Glu)	SNV Germline	Chr17:7221000	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel		rs_2071185757	2 SubmittersRCV001042754
NM_000018.4(ACADVL):c.601T>C (p.Tyr201His)	SNV Germline	Chr17:7221661	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_2071233789	1 SubmittersRCV001050460
NM_000018.4(ACADVL):c.722A>G (p.Tyr241Cys)	SNV Germline	Chr17:7222051	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency ACADVL-related disorder	Criteria Provided Conflicting Classifications		rs_575789958	3 SubmittersRCV001069204 RCV003963031
NM_000018.4(ACADVL):c.773T>C (p.Ile258Thr)	SNV Germline	Chr17:7222197	Pathogenic/Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_1197133430	2 SubmittersRCV001059797
NM_000018.4(ACADVL):c.918C>A (p.Asn306Lys)	SNV Germline	Chr17:7222706	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_2071288883	1 SubmittersRCV001063279
NM_000018.4(ACADVL):c.1154G>A (p.Arg385Gln)	SNV Germline	Chr17:7223209	Conflicting classifications of pathogenicity	ACADVL-related disorder Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_772014118	4 SubmittersRCV003928674 RCV001043789
NM_000018.4(ACADVL):c.900G>A (p.Met300Ile)	SNV Germline	Chr17:7222688	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	No Assertion Criteria Provided		rs_2071288305	1 SubmittersRCV001075884
NM_000018.4(ACADVL):c.1310T>C (p.Met437Thr)	SNV Germline	Chr17:7223853	Pathogenic/Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency Abnormality of the musculature	Criteria Provided Multiple Submitters No Conflicts		rs_2071345821	4 SubmittersRCV001200727 RCV001814269
NM_000018.4(ACADVL):c.51C>T (p.Leu17=)	SNV Germline	Chr17:7220035	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_376733533	2 SubmittersRCV001126459
NM_000018.4(ACADVL):c.114G>C (p.Arg38=)	SNV Germline	Chr17:7220173	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_777380964	3 SubmittersRCV001128518
NM_000018.4(ACADVL):c.867G>T (p.Gly289=)	SNV Germline	Chr17:7222291	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_745557512	2 SubmittersRCV001123900
NM_000018.4(ACADVL):c.1081G>A (p.Asp361Asn)	SNV Germline	Chr17:7223136	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_1331739604	4 SubmittersRCV001126556
NM_000018.4(ACADVL):c.1186A>G (p.Met396Val)	SNV Germline	Chr17:7223647	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_2071337130	2 SubmittersRCV001126557
NM_000018.4(ACADVL):c.1215C>T (p.Asp405=)	SNV Germline	Chr17:7223676	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_2071338251	3 SubmittersRCV001128621
NM_000018.4(ACADVL):c.1227G>A (p.Thr409=)	SNV Germline	Chr17:7223688	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency ACADVL-related disorder	Criteria Provided Conflicting Classifications		rs_778531268	3 SubmittersRCV001128622 RCV003938482
NM_000018.4(ACADVL):c.343-14T>C	SNV Germline	Chr17:7220910	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_200368309	3 SubmittersRCV001122814
NM_000018.4(ACADVL):c.709T>C (p.Cys237Arg)	SNV Germline	Chr17:7222038	Conflicting classifications of pathogenicity	not specified Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_1189763523	4 SubmittersRCV001193468 RCV001828597
NM_000018.4(ACADVL):c.155C>G (p.Ser52Ter)	SNV Germline	Chr17:7220480	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel		rs_2071146837	2 SubmittersRCV001200670
NM_000018.4(ACADVL):c.215C>T (p.Ser72Phe)	SNV Germline	Chr17:7220614	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications		rs_1161495077	5 SubmittersRCV001200680 RCV002282479
NM_000018.4(ACADVL):c.272C>A (p.Pro91Gln)	SNV Germline	Chr17:7220671	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_2071160066	2 SubmittersRCV001200683
NM_000018.4(ACADVL):c.343G>T (p.Glu115Ter)	SNV Germline	Chr17:7220924	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel		rs_370146676	2 SubmittersRCV001200673
NM_000018.4(ACADVL):c.428G>C (p.Gly143Ala)	SNV Germline	Chr17:7221009	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_1458941582	2 SubmittersRCV001200814
NM_000018.4(ACADVL):c.491T>G (p.Val164Gly)	SNV Germline	Chr17:7221551	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_2071225938	2 SubmittersRCV001200821
NM_000018.4(ACADVL):c.513C>G (p.Asp171Glu)	SNV Germline	Chr17:7221573	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications		rs_2071227581	2 SubmittersRCV001200735 RCV003396813
NM_000018.4(ACADVL):c.602A>G (p.Tyr201Cys)	SNV Germline	Chr17:7221662	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel		rs_1597525536	3 SubmittersRCV001200733
NM_000018.4(ACADVL):c.622G>A (p.Gly208Arg)	SNV Germline	Chr17:7221682	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_748329498	3 SubmittersRCV001200726
NM_000018.4(ACADVL):c.638C>T (p.Ala213Val)	SNV Germline	Chr17:7221967	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_2071252145	2 SubmittersRCV001200744
NM_000018.4(ACADVL):c.668C>G (p.Ser223Ter)	SNV Germline	Chr17:7221997	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel		rs_2071253904	2 SubmittersRCV001200675
NM_000018.4(ACADVL):c.746G>A (p.Trp249Ter)	SNV Germline	Chr17:7222075	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel		rs_2071258420	3 SubmittersRCV001200799
NM_000018.4(ACADVL):c.760G>A (p.Gly254Ser)	SNV Germline	Chr17:7222184	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency not specified ACADVL-related disorder	Criteria Provided Conflicting Classifications		rs_765423779	6 SubmittersRCV001200691 RCV003230646 RCV004754700
NM_000018.4(ACADVL):c.855G>C (p.Glu285Asp)	SNV Germline	Chr17:7222279	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_201509063	3 SubmittersRCV001200695 RCV001552986
NM_000018.4(ACADVL):c.896A>T (p.Lys299Met)	SNV Germline	Chr17:7222684	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel		rs_771247610	4 SubmittersRCV001200782
NM_000018.4(ACADVL):c.899T>G (p.Met300Arg)	SNV Germline	Chr17:7222687	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_142765230	2 SubmittersRCV001200699
NM_000018.4(ACADVL):c.1045G>A (p.Ala349Thr)	SNV Germline	Chr17:7222833	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_1567565733	3 SubmittersRCV001200833
NM_000018.4(ACADVL):c.1046C>A (p.Ala349Glu)	SNV Germline	Chr17:7222834	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_1227564457	1 SubmittersRCV001200834
NM_000018.4(ACADVL):c.1049G>T (p.Gly350Val)	SNV Germline	Chr17:7222837	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_1343647718	1 SubmittersRCV001200835
NM_000018.4(ACADVL):c.1321G>A (p.Gly441Ser)	SNV Germline	Chr17:7223864	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_2071346777	2 SubmittersRCV001200704
NM_000018.4(ACADVL):c.1375C>G (p.Arg459Gly)	SNV Germline	Chr17:7224010	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_766742117	3 SubmittersRCV001200710
NM_000018.4(ACADVL):c.1467T>G (p.Ser489Arg)	SNV Germline	Chr17:7224178	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_771117714	3 SubmittersRCV001200760 RCV002509626
NM_000018.4(ACADVL):c.*8C>T	SNV Germline	Chr17:7225105	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided ACADVL-related disorder	Criteria Provided Conflicting Classifications		rs_370513576	4 SubmittersRCV001200797 RCV001638052 RCV003973137
NM_000018.4(ACADVL):c.62+20G>A	SNV Germline	Chr17:7220066	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_369163211	2 SubmittersRCV001200845
NM_000018.4(ACADVL):c.139-20C>T	SNV Germline	Chr17:7220444	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_374535729	2 SubmittersRCV001200847
NM_000018.4(ACADVL):c.278-1G>A	SNV Germline	Chr17:7220765	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel		rs_1298004609	3 SubmittersRCV001200671
NM_000018.4(ACADVL):c.477+8C>T	SNV Germline	Chr17:7221066	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_1437698813	2 SubmittersRCV001200850
NM_000018.4(ACADVL):c.477+50A>T	SNV Germline	Chr17:7221108	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_150033153	2 SubmittersRCV001200849 RCV001534131
NM_000018.4(ACADVL):c.753-9C>T	SNV Germline	Chr17:7222168	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_1262931604	2 SubmittersRCV001200747
NM_000018.4(ACADVL):c.753-2A>G	SNV Germline	Chr17:7222175	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel		rs_398123092	3 SubmittersRCV001200800
NM_000018.4(ACADVL):c.879-16C>A	SNV Germline	Chr17:7222651	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_780626099	3 SubmittersRCV001200771 RCV001760160
NM_000018.4(ACADVL):c.879-8T>A	SNV Germline	Chr17:7222659	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel		rs_2071286355	2 SubmittersRCV001200781
NM_000018.4(ACADVL):c.1077+16G>A	SNV Germline	Chr17:7222881	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_780420241	2 SubmittersRCV001200728
NM_000018.4(ACADVL):c.1182+3G>T	SNV Germline	Chr17:7223240	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_376281637	7 SubmittersRCV001200753 RCV001551792 RCV001797826
NM_000018.4(ACADVL):c.1533-2A>C	SNV Germline	Chr17:7224319	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_996348255	3 SubmittersRCV001200843
NM_000018.4(ACADVL):c.1605+2T>A	SNV Germline	Chr17:7224395	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel		rs_1597537351	3 SubmittersRCV001200786
NM_000018.4(ACADVL):c.790A>G (p.Lys264Glu)	SNV Germline	Chr17:7222214	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel		rs_1231343685	4 SubmittersRCV001210822
NM_000018.4(ACADVL):c.1173T>A (p.Tyr391Ter)	SNV Germline	Chr17:7223228	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel		rs_2071316298	2 SubmittersRCV001205724
NM_000018.4(ACADVL):c.878+1G>C	SNV Germline	Chr17:7222303	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel		rs_757946752	4 SubmittersRCV001211019
NM_000018.4(ACADVL):c.879-1G>A	SNV Germline	Chr17:7222666	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_2071286572	1 SubmittersRCV001209701
NM_000018.4(ACADVL):c.480C>G (p.Tyr160Ter)	SNV Germline	Chr17:7221540	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel		rs_371910495	2 SubmittersRCV001226208
NM_000018.4(ACADVL):c.1315G>T (p.Gly439Cys)	SNV Germline	Chr17:7223858	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_2071346311	1 SubmittersRCV001233556
NM_000018.4(ACADVL):c.1316G>T (p.Gly439Val)	SNV Germline	Chr17:7223859	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_533055438	1 SubmittersRCV001226404
NM_000018.4(ACADVL):c.1639G>A (p.Val547Met)	SNV Germline	Chr17:7224513	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_2071384107	1 SubmittersRCV001246701
NM_000018.4(ACADVL):c.62+1G>A	SNV Germline	Chr17:7220047	Pathogenic/Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_2071111529	4 SubmittersRCV001236568
NM_000018.4(ACADVL):c.1384G>A (p.Glu462Lys)	SNV Germline	Chr17:7224019	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_2071355499	2 SubmittersRCV001286682
NM_000018.4(ACADVL):c.239G>A (p.Gly80Asp)	SNV Germline	Chr17:7220638	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_1460278489	1 SubmittersRCV001299779
NM_000018.4(ACADVL):c.294G>T (p.Gln98His)	SNV Germline	Chr17:7220782	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications		rs_794727695	2 SubmittersRCV001306639 RCV004800969
NM_000018.4(ACADVL):c.1599C>T (p.Gly533=)	SNV Germline	Chr17:7224387	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_779770406	3 SubmittersRCV001309847 RCV001760376
NM_000018.4(ACADVL):c.1315G>C (p.Gly439Arg)	SNV Germline	Chr17:7223858	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_2071346311	1 SubmittersRCV001316134
NM_000018.4(ACADVL):c.342+18G>A	SNV Germline	Chr17:7220848	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_372594520	2 SubmittersRCV001334153
NM_000018.4(ACADVL):c.883C>G (p.Pro295Ala)	SNV Germline	Chr17:7222671	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_1327386820	1 SubmittersRCV001341060
NM_000018.4(ACADVL):c.635C>T (p.Ala212Val)	SNV Germline	Chr17:7221964	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_2142976575	1 SubmittersRCV001364012
NM_000018.4(ACADVL):c.205-2A>T	SNV Germline	Chr17:7220602	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_1597518954	1 SubmittersRCV001377749
NM_000018.4(ACADVL):c.952C>T (p.Pro318Ser)	SNV Germline	Chr17:7222740	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications		rs_762653370	2 SubmittersRCV001376738 RCV004770131
NM_000018.4(ACADVL):c.1078-2A>G	SNV Germline	Chr17:7223131	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_2142981920	1 SubmittersRCV001378645
NM_000018.4(ACADVL):c.190A>T (p.Lys64Ter)	SNV Germline	Chr17:7220515	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel		rs_2142964399	2 SubmittersRCV001390336
NM_000018.4(ACADVL):c.957G>A (p.Ser319=)	SNV Germline	Chr17:7222745	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_143870522	4 SubmittersRCV001402886 RCV002225835
NM_000018.4(ACADVL):c.1881G>A (p.Gln627=)	SNV Germline	Chr17:7225010	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_931018661	2 SubmittersRCV001559198
NM_000018.4(ACADVL):c.664G>C (p.Gly222Arg)	SNV Germline	Chr17:7221993	Pathogenic/Likely pathogenic	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_398123091	5 SubmittersRCV001576582 RCV001803373
NM_000018.4(ACADVL):c.694G>A (p.Ala232Thr)	SNV Germline	Chr17:7222023	Conflicting classifications of pathogenicity	Condition: not provided Very long chain acyl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications		rs_746944448	3 SubmittersRCV001756619 RCV001861051 RCV004587201
NM_000018.4(ACADVL):c.1540G>A (p.Gly514Arg)	SNV Germline	Chr17:7224328	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications		rs_370282954	3 SubmittersRCV001802356 RCV003230697
NM_000018.4(ACADVL):c.62G>A (p.Ser21Asn)	SNV Germline	Chr17:7220046	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_753922855	2 SubmittersRCV001802604 RCV004813188
NM_000018.4(ACADVL):c.1367G>C (p.Arg456Pro)	SNV Germline	Chr17:7224002	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_794727112	1 SubmittersRCV001989479
NM_000018.4(ACADVL):c.370G>A (p.Ala124Thr)	SNV Germline	Chr17:7220951	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_560912181	2 SubmittersRCV001974044 RCV004612061
NM_000018.4(ACADVL):c.1226C>G (p.Thr409Arg)	SNV Germline	Chr17:7223687	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_113994169	1 SubmittersRCV001922378
NM_000018.4(ACADVL):c.1000A>G (p.Met334Val)	SNV Germline	Chr17:7222788	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_1487767890	1 SubmittersRCV002023288
NM_000018.4(ACADVL):c.1138C>T (p.Gln380Ter)	SNV Germline	Chr17:7223193	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_781467053	1 SubmittersRCV001893228
NM_000018.4(ACADVL):c.418G>A (p.Gly140Arg)	SNV Germline	Chr17:7220999	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_2142969408	1 SubmittersRCV001999308
NM_000018.4(ACADVL):c.406C>T (p.Leu136Phe)	SNV Germline	Chr17:7220987	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_1460246415	1 SubmittersRCV001943414
NM_000018.4(ACADVL):c.740A>G (p.Lys247Arg)	SNV Germline	Chr17:7222069	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_2142977168	1 SubmittersRCV001965524
NM_000018.4(ACADVL):c.856A>G (p.Arg286Gly)	SNV Germline	Chr17:7222280	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency ACADVL-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_751556332	3 SubmittersRCV002041173 RCV004754831
NM_000018.4(ACADVL):c.747G>A (p.Trp249Ter)	SNV Germline	Chr17:7222076	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_141167669	1 SubmittersRCV001946539
NM_000018.4(ACADVL):c.277+2T>C	SNV Germline/somatic	Chr17:7220678	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency Condition: not provided	Criteria Provided Single Submitter		rs_1555527745	2 SubmittersRCV001933755 RCV002252730
NM_000018.4(ACADVL):c.1605+1G>C	SNV Germline	Chr17:7224394	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_2142988018	1 SubmittersRCV001945962
NM_000018.4(ACADVL):c.1587G>T (p.Leu529Phe)	SNV Germline	Chr17:7224375	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_2142987900	1 SubmittersRCV001939664
NM_000018.4(ACADVL):c.977T>A (p.Val326Asp)	SNV Germline	Chr17:7222765	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_1205407134	1 SubmittersRCV001872874
NM_000018.4(ACADVL):c.655C>A (p.Pro219Thr)	SNV Germline	Chr17:7221984	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_772898391	1 SubmittersRCV001960667
NM_000018.4(ACADVL):c.1540G>C (p.Gly514Arg)	SNV Germline	Chr17:7224328	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_370282954	1 SubmittersRCV002042935
NM_000018.4(ACADVL):c.853G>C (p.Glu285Gln)	SNV Germline	Chr17:7222277	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications		rs_202216257	4 SubmittersRCV001994847 RCV003331248
NM_000018.4(ACADVL):c.1751+2T>A	SNV Germline	Chr17:7224716	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_1597539537	1 SubmittersRCV001988268
NM_000018.4(ACADVL):c.661A>G (p.Ser221Gly)	SNV Germline	Chr17:7221990	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency ACADVL-related disorder	Criteria Provided Conflicting Classifications		rs_767063791	3 SubmittersRCV001938779 RCV003416627
NM_000018.4(ACADVL):c.1316G>C (p.Gly439Ala)	SNV Germline	Chr17:7223859	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_533055438	1 SubmittersRCV002038041
NM_000018.4(ACADVL):c.477+1G>C	SNV Germline	Chr17:7221059	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_2142969951	2 SubmittersRCV002033275
NM_000018.4(ACADVL):c.1096C>G (p.Arg366Gly)	SNV Germline	Chr17:7223151	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_771874163	1 SubmittersRCV001952657
NM_000018.4(ACADVL):c.205-1G>C	SNV Germline	Chr17:7220603	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_2142965332	1 SubmittersRCV002045963
NM_000018.4(ACADVL):c.839C>T (p.Thr280Ile)	SNV Germline	Chr17:7222263	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_2142978093	1 SubmittersRCV002045649
NM_000018.4(ACADVL):c.1605+1G>T	SNV Germline	Chr17:7224394	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_2142988018	2 SubmittersRCV001951405
NM_000018.4(ACADVL):c.1268C>A (p.Ser423Ter)	SNV Germline	Chr17:7223729	Pathogenic/Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_1451455641	2 SubmittersRCV001980227
NM_000018.4(ACADVL):c.437T>G (p.Val146Gly)	SNV Germline	Chr17:7221018	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_2142969655	1 SubmittersRCV001949554
NM_000018.4(ACADVL):c.1328T>C (p.Met443Thr)	SNV Germline	Chr17:7223871	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_886043236	1 SubmittersRCV001934084
NM_000018.4(ACADVL):c.894G>A (p.Lys298=)	SNV Germline	Chr17:7222682	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications		rs_749598830	2 SubmittersRCV002200294
NM_000018.4(ACADVL):c.1292A>G (p.Asp431Gly)	SNV Germline	Chr17:7223835	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_2142985073	1 SubmittersRCV002249222
NM_000018.4(ACADVL):c.1752-1G>A	SNV Germline	Chr17:7224808	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_2142990593	1 SubmittersRCV002249223
NM_000018.4(ACADVL):c.552C>A (p.Ile184=)	SNV Germline	Chr17:7221612	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter		rs_770961747	1 SubmittersRCV002272871
NM_000018.4(ACADVL):c.342+1G>A	SNV Germline	Chr17:7220831	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel			1 SubmittersRCV002286684
NM_000018.4(ACADVL):c.277+1G>A	SNV Germline	Chr17:7220677	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel			1 SubmittersRCV002286686
NM_000018.4(ACADVL):c.1077+2T>A	SNV Germline	Chr17:7222867	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel			1 SubmittersRCV002286687
NM_000018.4(ACADVL):c.265C>T (p.Pro89Ser)	SNV Germline	Chr17:7220664	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel			2 SubmittersRCV002286691
NM_000018.4(ACADVL):c.645T>A (p.Cys215Ter)	SNV Unknown	Chr17:7221974	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002308349
NM_000018.4(ACADVL):c.1522C>T (p.Gln508Ter)	SNV Germline	Chr17:7224233	Pathogenic/Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV002308456
NM_000018.4(ACADVL):c.740A>C (p.Lys247Thr)	SNV Germline	Chr17:7222069	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003041270
NM_000018.4(ACADVL):c.1838G>C (p.Arg613Pro)	SNV Germline	Chr17:7224967	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003086036
NM_000018.4(ACADVL):c.277G>A (p.Val93Met)	SNV Germline	Chr17:7220676	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications			2 SubmittersRCV003097652
NM_000018.4(ACADVL):c.604C>T (p.Leu202Phe)	SNV Germline	Chr17:7221664	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002592007
NM_000018.4(ACADVL):c.139-2A>T	SNV Germline	Chr17:7220462	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002615796
NM_000018.4(ACADVL):c.1924G>A (p.Val642Met)	SNV Germline	Chr17:7225053	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003121509
NM_000018.4(ACADVL):c.1213G>A (p.Asp405Asn)	SNV Germline	Chr17:7223674	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002705466
NM_000018.4(ACADVL):c.58G>T (p.Gly20Ter)	SNV Germline	Chr17:7220042	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002717372
NM_000018.4(ACADVL):c.946C>T (p.Arg316Trp)	SNV Germline	Chr17:7222734	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002790402
NM_000018.4(ACADVL):c.854A>T (p.Glu285Val)	SNV Germline	Chr17:7222278	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002801691
NM_000018.4(ACADVL):c.204+1G>T	SNV Germline	Chr17:7220530	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002828213
NM_000018.4(ACADVL):c.800T>G (p.Val267Gly)	SNV Germline	Chr17:7222224	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002856887
NM_000018.4(ACADVL):c.4C>T (p.Gln2Ter)	SNV Germline	Chr17:7219988	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002838630
NM_000018.4(ACADVL):c.544C>T (p.Gln182Ter)	SNV Germline	Chr17:7221604	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002862577
NM_000018.4(ACADVL):c.337T>A (p.Phe113Ile)	SNV Germline	Chr17:7220825	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002876117
NM_000018.4(ACADVL):c.604C>G (p.Leu202Val)	SNV Germline	Chr17:7221664	Pathogenic/Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002895688
NM_000018.4(ACADVL):c.1520A>T (p.Lys507Ile)	SNV Germline	Chr17:7224231	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002877497
NM_000018.4(ACADVL):c.902G>A (p.Gly301Asp)	SNV Germline	Chr17:7222690	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002974977
NM_000018.4(ACADVL):c.62+1G>T	SNV Germline	Chr17:7220047	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002996927
NM_000018.4(ACADVL):c.753-1G>A	SNV Germline	Chr17:7222176	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003046297
NM_000018.4(ACADVL):c.139-1G>C	SNV Germline	Chr17:7220463	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003029548
NM_000018.4(ACADVL):c.852G>A (p.Val284=)	SNV Germline	Chr17:7222276	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003033174
NM_000018.4(ACADVL):c.656C>A (p.Pro219His)	SNV Germline	Chr17:7221985	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003036760
NM_000018.4(ACADVL):c.1058G>A (p.Arg353Lys)	SNV Germline	Chr17:7222846	Conflicting classifications of pathogenicity	Inborn genetic diseases Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications			2 SubmittersRCV002773468 RCV003497962
NM_000018.4(ACADVL):c.1194C>G (p.Tyr398Ter)	SNV Germline	Chr17:7223655	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003134956
NM_000018.4(ACADVL):c.869G>A (p.Gly290Asp)	SNV Germline	Chr17:7222293	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Conflicting Classifications			2 SubmittersRCV003139565
NM_000018.4(ACADVL):c.1055T>C (p.Met352Thr)	SNV Germline	Chr17:7222843	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications			3 SubmittersRCV003139571 RCV004526976
NM_000018.4(ACADVL):c.733G>T (p.Gly245Ter)	SNV Germline	Chr17:7222062	Pathogenic/Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003465088
NM_000018.4(ACADVL):c.1238T>C (p.Ile413Thr)	SNV Germline	Chr17:7223699	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003474375
NM_000018.4(ACADVL):c.842C>A (p.Ala281Asp)	SNV Unknown	Chr17:7222266	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003460225
NM_000018.4(ACADVL):c.603C>A (p.Tyr201Ter)	SNV Unknown	Chr17:7221663	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003474414
NM_000018.4(ACADVL):c.298C>T (p.Gln100Ter)	SNV Unknown	Chr17:7220786	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003474417
NM_000018.4(ACADVL):c.139-1G>A	SNV Germline	Chr17:7220463	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003460244
NM_000018.4(ACADVL):c.1213G>C (p.Asp405His)	SNV Unknown	Chr17:7223674	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003460250
NM_000018.4(ACADVL):c.1678+1G>T	SNV Unknown	Chr17:7224553	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003460267
NM_000018.4(ACADVL):c.1234C>T (p.Gln412Ter)	SNV Unknown	Chr17:7223695	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003460269
NM_000018.4(ACADVL):c.277+2T>A	SNV Unknown	Chr17:7220678	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003460272
NM_000018.4(ACADVL):c.1168C>T (p.Gln390Ter)	SNV Germline	Chr17:7223223	Pathogenic/Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003474423
NM_000018.4(ACADVL):c.643T>C (p.Cys215Arg)	SNV Germline	Chr17:7221972	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel			1 SubmittersRCV003455820
NM_000018.4(ACADVL):c.490G>T (p.Val164Leu)	SNV Germline	Chr17:7221550	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003498212
NM_000018.4(ACADVL):c.62+2T>C	SNV Germline	Chr17:7220048	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003498099
NM_000018.4(ACADVL):c.595G>T (p.Glu199Ter)	SNV Germline	Chr17:7221655	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003498954
NM_000018.4(ACADVL):c.1097G>C (p.Arg366Pro)	SNV Germline	Chr17:7223152	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003498913
NM_000018.4(ACADVL):c.1624C>T (p.Gln542Ter)	SNV Germline	Chr17:7224498	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003499209
NM_000018.4(ACADVL):c.1820G>T (p.Cys607Phe)	SNV Germline	Chr17:7224877	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003499835
NM_000018.4(ACADVL):c.1413T>G (p.Phe471Leu)	SNV Germline	Chr17:7224048	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003499698
NM_000018.4(ACADVL):c.1619T>C (p.Leu540Pro)	SNV Germline	Chr17:7224493	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003499998
NM_000018.4(ACADVL):c.1097G>T (p.Arg366Leu)	SNV Germline	Chr17:7223152	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003499977
NM_000018.4(ACADVL):c.1469C>T (p.Ala490Val)	SNV Germline	Chr17:7224180	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003497528
NM_000018.4(ACADVL):c.1567G>T (p.Gly523Ter)	SNV Germline	Chr17:7224355	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003497662
NM_000018.4(ACADVL):c.490G>A (p.Val164Met)	SNV Germline	Chr17:7221550	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003497768
NM_000018.4(ACADVL):c.1469C>G (p.Ala490Gly)	SNV Germline	Chr17:7224180	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003498435
NM_000018.4(ACADVL):c.655C>T (p.Pro219Ser)	SNV Germline	Chr17:7221984	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003498560
NM_000018.4(ACADVL):c.1182+1G>T	SNV Germline	Chr17:7223238	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003498313
NM_000018.4(ACADVL):c.1816T>C (p.Trp606Arg)	SNV Germline	Chr17:7224873	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003499383
NM_000018.4(ACADVL):c.829G>T (p.Glu277Ter)	SNV Germline	Chr17:7222253	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003498625
NM_000018.4(ACADVL):c.553G>T (p.Gly185Cys)	SNV Germline	Chr17:7221613	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003499350
NM_000018.4(ACADVL):c.710G>A (p.Cys237Tyr)	SNV Germline	Chr17:7222039	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications			2 SubmittersRCV003498657 RCV004701759
NM_000018.4(ACADVL):c.481G>T (p.Ala161Ser)	SNV Germline	Chr17:7221541	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003600504
NM_000018.4(ACADVL):c.482C>A (p.Ala161Asp)	SNV Germline	Chr17:7221542	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003600487
NM_000018.4(ACADVL):c.1838G>T (p.Arg613Leu)	SNV Germline	Chr17:7224967	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003600721
NM_000018.4(ACADVL):c.366T>G (p.Asn122Lys)	SNV Germline	Chr17:7220947	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003600685
NM_000018.4(ACADVL):c.1001T>C (p.Met334Thr)	SNV Germline	Chr17:7222789	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003601398
NM_000018.4(ACADVL):c.491T>A (p.Val164Glu)	SNV Germline	Chr17:7221551	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003601428
NM_000018.4(ACADVL):c.373C>G (p.Leu125Val)	SNV Germline	Chr17:7220954	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003601656
NM_000018.4(ACADVL):c.1679-1G>A	SNV Germline	Chr17:7224641	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003601830
NM_000018.4(ACADVL):c.1752-2A>G	SNV Germline	Chr17:7224807	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003601676
NM_000018.4(ACADVL):c.1533-2A>G	SNV Germline	Chr17:7224319	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003602300
NM_000018.4(ACADVL):c.1605+1G>A	SNV Germline	Chr17:7224394	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003602328
NM_000018.4(ACADVL):c.1002G>A (p.Met334Ile)	SNV Germline	Chr17:7222790	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003602440
NM_000018.4(ACADVL):c.1757C>G (p.Ser586Ter)	SNV Germline	Chr17:7224814	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003599885
NM_000018.4(ACADVL):c.1054A>G (p.Met352Val)	SNV Germline	Chr17:7222842	Conflicting classifications of pathogenicity	Very long chain acyl-CoA dehydrogenase deficiency not specified	Criteria Provided Conflicting Classifications			3 SubmittersRCV003602458 RCV004701786
NM_000018.4(ACADVL):c.239G>C (p.Gly80Ala)	SNV Germline	Chr17:7220638	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003600069
NM_000018.4(ACADVL):c.739A>T (p.Lys247Ter)	SNV Germline	Chr17:7222068	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003599893
NM_000018.4(ACADVL):c.839C>G (p.Thr280Arg)	SNV Germline	Chr17:7222263	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003599987
NM_000018.4(ACADVL):c.1747T>G (p.Ser583Ala)	SNV Germline	Chr17:7224710	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003599947
NM_000018.4(ACADVL):c.1183-2A>C	SNV Germline	Chr17:7223642	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003599951
NM_000018.4(ACADVL):c.1121A>C (p.His374Pro)	SNV Germline	Chr17:7223176	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003600316
NM_000018.4(ACADVL):c.857G>A (p.Arg286Lys)	SNV Germline	Chr17:7222281	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003600295
NM_000018.4(ACADVL):c.238G>C (p.Gly80Arg)	SNV Germline	Chr17:7220637	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003600304
NM_000018.4(ACADVL):c.879-2A>G	SNV Germline	Chr17:7222665	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003600308
NM_000018.4(ACADVL):c.139-2A>G	SNV Germline	Chr17:7220462	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003600335
NM_000018.4(ACADVL):c.1274C>T (p.Ala425Val)	SNV Germline	Chr17:7223817	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003601255
NM_000018.4(ACADVL):c.656C>T (p.Pro219Leu)	SNV Germline	Chr17:7221985	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003601140
NM_000018.4(ACADVL):c.1313G>C (p.Gly438Ala)	SNV Germline	Chr17:7223856	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003601294
NM_000018.4(ACADVL):c.761G>A (p.Gly254Asp)	SNV Germline	Chr17:7222185	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003601298
NM_000018.4(ACADVL):c.741G>C (p.Lys247Asn)	SNV Germline	Chr17:7222070	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003602008
NM_000018.4(ACADVL):c.477+1G>A	SNV Germline	Chr17:7221059	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003601871
NM_000018.4(ACADVL):c.1925T>C (p.Val642Ala)	SNV Germline	Chr17:7225054	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003812104
NM_000018.4(ACADVL):c.1519A>G (p.Lys507Glu)	SNV Germline	Chr17:7224230	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003818206
NM_000018.4(ACADVL):c.1081G>T (p.Asp361Tyr)	SNV Germline	Chr17:7223136	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003838264
NM_000018.4(ACADVL):c.1332+2T>C	SNV Germline	Chr17:7223877	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003846478
NM_000018.4(ACADVL):c.965T>C (p.Val322Ala)	SNV Germline	Chr17:7222753	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003865805
NM_000018.4(ACADVL):c.665G>C (p.Gly222Ala)	SNV Germline	Chr17:7221994	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003872432
NM_000018.4(ACADVL):c.514C>T (p.Leu172Phe)	SNV Germline	Chr17:7221574	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003864987
NM_000018.4(ACADVL):c.477+2T>G	SNV Germline	Chr17:7221060	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003864833
NM_000018.4(ACADVL):c.1348C>T (p.Arg450Cys)	SNV Germline	Chr17:7223983	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003878694
NM_000018.4(ACADVL):c.1678+1G>A	SNV Unknown	Chr17:7224553	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV004573969
NM_000018.4(ACADVL):c.1533-1G>C	SNV Unknown	Chr17:7224320	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV004573989
NM_000018.4(ACADVL):c.1077+6T>A	SNV Unknown	Chr17:7222871	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV004574008
NM_000018.4(ACADVL):c.1332+1G>C	SNV Unknown	Chr17:7223876	Likely pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV004575423
NM_000018.4(ACADVL):c.1827+1G>A	SNV Germline	Chr17:7224885	Pathogenic	Very long chain acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel			1 SubmittersRCV004586515

NM_000018.4(ACADVL):c.1182+1G>A

SNV
Germline

Chr17:7223238

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided

Reviewed By Expert Panel

rs_113690956

13 SubmittersRCV000001689 RCV000210824

NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp)

SNV
Germline

Chr17:7224966

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided

Reviewed By Expert Panel

CA251903

rs_118204014

15 SubmittersRCV000001690 RCV000185733

NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln)

SNV
Germline

Chr17:7223199

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

CA251906

rs_118204015

5 SubmittersRCV000001695

NM_000018.4(ACADVL):c.1372T>C (p.Phe458Leu)

SNV
Germline

Chr17:7224007

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided
ACADVL-related disorder

Reviewed By Expert Panel

CA251907

rs_118204017

7 SubmittersRCV000001699 RCV001731269 RCV003914796

NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr)

SNV
Germline

Chr17:7223707

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

CA251908

rs_118204018

7 SubmittersRCV000001700

NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)

SNV
Germline

Chr17:7223984

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided
Rhabdomyolysis
Abnormal circulating enzyme concentration

Reviewed By Expert Panel

CA251910

rs_118204016

15 SubmittersRCV000001701 RCV000724571 RCV001003625

NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met)

SNV
Germline

Chr17:7223687

Conflicting classifications of pathogenicity

Inborn genetic diseases
Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA312268

rs_113994169

8 SubmittersRCV002514121 RCV000020069

NM_000018.4(ACADVL):c.1284G>A (p.Lys428=)

SNV
Germline

Chr17:7223827

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA341515

rs_35501596

5 SubmittersRCV001703416 RCV002381258 RCV000020070

NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp)

SNV
Germline

Chr17:7223865

Pathogenic

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

CA220193

rs_2309689

16 SubmittersRCV000077903 RCV000020072

NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys)

SNV
Germline

Chr17:7224388

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA285289

rs_2230180

11 SubmittersRCV000077907 RCV003421925 RCV000020074

NM_000018.4(ACADVL):c.1679-6G>A

SNV
Germline

Chr17:7224636

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided
ACADVL-related disorder

Reviewed By Expert Panel

CA312281

rs_113994171

11 SubmittersRCV000031857 RCV000185730 RCV003904852

NM_000018.4(ACADVL):c.779C>T (p.Thr260Met)

SNV
Germline

Chr17:7222203

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided
See cases

Reviewed By Expert Panel

CA341526

rs_113994168

12 SubmittersRCV000020080 RCV000429481 RCV004584334

NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)

SNV
Germline

Chr17:7222272

Pathogenic

Condition: not provided
Inborn genetic diseases
See cases
ACADVL-related disorder
Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

CA285294

rs_113994167

32 SubmittersRCV000077925 RCV002513135 RCV004584335 RCV004754267 RCV000020081

NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg)

SNV
Germline

Chr17:7222789

Conflicting classifications of pathogenicity

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA285287

rs_398123079

10 SubmittersRCV000077898 RCV000668860 RCV001174775

NM_000018.4(ACADVL):c.1106T>C (p.Phe369Ser)

SNV
Germline

Chr17:7223161

Conflicting classifications of pathogenicity

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA220189

rs_398123080

2 SubmittersRCV000173951 RCV002513812

NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr)

SNV
Germline

Chr17:7223816

Conflicting classifications of pathogenicity

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA220191

rs_138834083

9 SubmittersRCV000418569 RCV000652034 RCV003114240

NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln)

SNV
Germline

Chr17:7224041

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided

Reviewed By Expert Panel

CA220197

rs_398123083

7 SubmittersRCV000169627 RCV000790745

NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)

SNV
Germline

Chr17:7224663

Pathogenic/Likely pathogenic

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA285290

rs_398123084

13 SubmittersRCV000259048 RCV000813614

NM_000018.4(ACADVL):c.1711G>A (p.Gly571Arg)

SNV
Germline

Chr17:7224674

Conflicting classifications of pathogenicity

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA220198

rs_398123085

5 SubmittersRCV000077910 RCV001200766

NM_000018.4(ACADVL):c.436G>C (p.Val146Leu)

SNV
Germline

Chr17:7221017

Pathogenic/Likely pathogenic

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA220209

rs_398123089

3 SubmittersRCV000077917 RCV001854368

NM_000018.4(ACADVL):c.520G>A (p.Val174Met)

SNV
Germline

Chr17:7221580

Pathogenic/Likely pathogenic

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA220213

rs_369560930

11 SubmittersRCV000077919 RCV000179696

NM_000018.4(ACADVL):c.605T>A (p.Leu202His)

SNV
Germline

Chr17:7221665

Conflicting classifications of pathogenicity

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA220214

rs_398123090

4 SubmittersRCV000077920 RCV001001444

NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro)

SNV
Germline

Chr17:7221665

Likely pathogenic

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

CA220216

rs_398123090

8 SubmittersRCV000723640 RCV001200734

NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg)

SNV
Germline

Chr17:7221993

Likely pathogenic

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency
ACADVL-related disorder

Reviewed By Expert Panel

CA220218

rs_398123091

12 SubmittersRCV000077922 RCV000169301 RCV004754294

NM_000018.4(ACADVL):c.753-2A>C

SNV
Germline

Chr17:7222175

Likely pathogenic

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

CA220220

rs_398123092

12 SubmittersRCV000077923 RCV000180449

NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)

SNV
Germline

Chr17:7221598

Likely pathogenic

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

CA295584

rs_727503791

10 SubmittersRCV000152735 RCV000675106

NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp)

SNV
Germline

Chr17:7224379

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Primary dilated cardiomyopathy
Very long chain acyl-CoA dehydrogenase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA233436

rs_146379816

13 SubmittersRCV000185729 RCV001192883 RCV000208321 RCV000652029 RCV004019829

NM_000018.4(ACADVL):c.637G>C (p.Ala213Pro)

SNV
Germline

Chr17:7221966

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided

Reviewed By Expert Panel

CA233431

rs_140629318

5 SubmittersRCV000702574 RCV000152737

NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter)

SNV
Germline

Chr17:7220124

Pathogenic

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

CA233425

rs_727503788

11 SubmittersRCV000152732 RCV000985184

NM_000018.4(ACADVL):c.129T>A (p.Gly43=)

SNV
Germline

Chr17:7220188

Conflicting classifications of pathogenicity

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA233427

rs_727503789

2 SubmittersRCV000152733 RCV001497556

NM_000018.4(ACADVL):c.1532+1G>A

SNV
Germline

Chr17:7224244

Likely pathogenic

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

CA273297

rs_727503794

3 SubmittersRCV000152740 RCV003453143

NM_000018.4(ACADVL):c.433C>T (p.Gln145Ter)

SNV
Germline

Chr17:7221014

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

CA274436

rs_786204738

4 SubmittersRCV000169585

NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter)

SNV
Germline

Chr17:7222014

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided

Reviewed By Expert Panel

CA274078

rs_786204536

7 SubmittersRCV000169238 RCV000579295

NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp)

SNV
Germline

Chr17:7223208

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided
ACADVL-related disorder

Criteria Provided
Conflicting Classifications

CA239438

rs_745832866

11 SubmittersRCV000668844 RCV000173952 RCV003927590

NM_000018.4(ACADVL):c.1434+14T>A

SNV
Germline

Chr17:7224083

Conflicting classifications of pathogenicity

not specified
Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA274996

rs_202217537

10 SubmittersRCV000246029 RCV000174650 RCV000723493 RCV004020070

NM_000018.4(ACADVL):c.1366C>T (p.Arg456Cys)

SNV
Germline

Chr17:7224001

Conflicting classifications of pathogenicity

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA240222

rs_794727111

4 SubmittersRCV000174652 RCV000696055

NM_000018.4(ACADVL):c.1367G>A (p.Arg456His)

SNV
Germline

Chr17:7224002

Likely pathogenic

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

CA240224

rs_794727112

7 SubmittersRCV000174653 RCV000410559

NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter)

SNV
Germline

Chr17:7223992

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided

Reviewed By Expert Panel

CA274997

rs_794727113

8 SubmittersRCV000174654 RCV000724448

NM_000018.4(ACADVL):c.455G>A (p.Gly152Asp)

SNV
Germline

Chr17:7221036

Conflicting classifications of pathogenicity

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA246508

rs_794727772

2 SubmittersRCV000179232 RCV001337172

NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr)

SNV
Germline

Chr17:7221966

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided
Inborn genetic diseases

Reviewed By Expert Panel

CA275413

rs_140629318

9 SubmittersRCV000180089 RCV000723371 RCV002515289

NM_000018.4(ACADVL):c.866G>A (p.Gly289Glu)

SNV
Germline

Chr17:7222290

Conflicting classifications of pathogenicity

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA247926

rs_778514103

3 SubmittersRCV000180450 RCV001200696

NM_000018.4(ACADVL):c.343-1G>A

SNV
Germline/somatic

Chr17:7220923

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided

Reviewed By Expert Panel

rs_1555527877

5 SubmittersRCV001200672 RCV002250361

NM_000018.4(ACADVL):c.427G>A (p.Gly143Ser)

SNV
Germline

Chr17:7221008

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_794727773

1 SubmittersRCV001990553

NM_000018.4(ACADVL):c.482C>T (p.Ala161Val)

SNV
Germline

Chr17:7221542

Conflicting classifications of pathogenicity

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA312251

rs_796051908

2 SubmittersRCV000185711 RCV000675132

NM_000018.4(ACADVL):c.535G>T (p.Gly179Trp)

SNV
Germline

Chr17:7221595

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

rs_796051909

3 SubmittersRCV000671223 RCV002282015

NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser)

SNV
Germline

Chr17:7221613

Likely pathogenic

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency
ACADVL-related disorder

Reviewed By Expert Panel

CA312291

rs_545215807

13 SubmittersRCV000185742 RCV000412436 RCV003416111

NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln)

SNV
Germline

Chr17:7222735

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA312260

rs_147366714

8 SubmittersRCV000555764 RCV000755205

NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys)

SNV
Germline

Chr17:7223151

Pathogenic/Likely pathogenic

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA312264

rs_771874163

13 SubmittersRCV000185719 RCV000675110

NM_000018.4(ACADVL):c.1097G>A (p.Arg366His)

SNV
Germline

Chr17:7223152

Likely pathogenic

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

CA312265

rs_112406105

11 SubmittersRCV000185720 RCV000411732

NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser)

SNV
Germline

Chr17:7223182

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA312266

rs_758928307

6 SubmittersRCV000652042

NM_000018.4(ACADVL):c.1316G>A (p.Gly439Asp)

SNV
Germline

Chr17:7223859

Pathogenic

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA312270

rs_533055438

6 SubmittersRCV000185723 RCV000703664

NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp)

SNV
Germline

Chr17:7224010

Conflicting classifications of pathogenicity

not specified
Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA312274

rs_766742117

5 SubmittersRCV000506090 RCV000652041

NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln)

SNV
Germline

Chr17:7224011

Pathogenic

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency
Myopathy
Rhabdomyolysis
Inborn genetic diseases
ACADVL-related disorder

Reviewed By Expert Panel

CA312275

rs_751995154

16 SubmittersRCV000185726 RCV000412089 RCV000414939 RCV002516958 RCV003407682

NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln)

SNV
Germline

Chr17:7224243

Pathogenic/Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA312279

rs_200771970

7 SubmittersRCV000410771 RCV000595069

NM_000018.4(ACADVL):c.1613G>C (p.Arg538Pro)

SNV
Germline

Chr17:7224487

Conflicting classifications of pathogenicity

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA8338191

rs_201350598

7 SubmittersRCV000224776 RCV001200783 RCV004782317

NM_000018.4(ACADVL):c.1820G>A (p.Cys607Tyr)

SNV
Germline

Chr17:7224877

Conflicting classifications of pathogenicity

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA10581272

rs_200117742

3 SubmittersRCV000224548 RCV001200778

NM_000018.4(ACADVL):c.1828-4C>G

SNV
Germline

Chr17:7224953

Conflicting classifications of pathogenicity

not specified
Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8338291

rs_184559206

7 SubmittersRCV000251264 RCV000549028 RCV001706283

NM_000018.4(ACADVL):c.1839G>A (p.Arg613=)

SNV
Germline

Chr17:7224968

Conflicting classifications of pathogenicity

not specified
Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided
ACADVL-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8338296

rs_79125791

8 SubmittersRCV000243077 RCV000360248 RCV001705322 RCV003891825 RCV004020994

NM_000018.4(ACADVL):c.678C>A (p.Ala226=)

SNV
Germline

Chr17:7222007

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA8337808

rs_372114185

4 SubmittersRCV000341809 RCV000725178 RCV001271776

NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg)

SNV
Germline

Chr17:7223871

Conflicting classifications of pathogenicity

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA10605275

rs_886043236

5 SubmittersRCV000327267 RCV000673223

NM_000018.4(ACADVL):c.-36A>G

SNV
Germline

Chr17:7219949

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
not specified
ACADVL-related disorder

Criteria Provided
Conflicting Classifications

CA8337501

rs_372592554

5 SubmittersRCV000398787 RCV000434907 RCV003910240

NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly)

SNV
Germline

Chr17:7222080

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
ACADVL-related disorder

Criteria Provided
Conflicting Classifications

CA10640460

rs_749159573

7 SubmittersRCV000373221 RCV004754390

NM_000018.4(ACADVL):c.205-7T>C

SNV
Germline

Chr17:7220597

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA8337599

rs_760625298

2 SubmittersRCV000325779

NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr)

SNV
Germline

Chr17:7221541

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
ACADVL-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8337740

rs_375284481

8 SubmittersRCV000271784 RCV004754389 RCV004719799

NM_000018.4(ACADVL):c.1581G>A (p.Pro527=)

SNV
Germline

Chr17:7224369

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
not specified
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8338160

rs_149436747

6 SubmittersRCV000309125 RCV000612544 RCV002402045 RCV003221917

NM_000018.4(ACADVL):c.205-8C>G

SNV
Germline

Chr17:7220596

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA8337598

rs_774353448

3 SubmittersRCV000270843

NM_000018.4(ACADVL):c.1824C>T (p.Ile608=)

SNV
Germline

Chr17:7224881

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided
Inborn genetic diseases
ACADVL-related disorder

Criteria Provided
Conflicting Classifications

CA8338276

rs_146115467

8 SubmittersRCV000324256 RCV001718680 RCV002411220 RCV003969923

NM_000018.4(ACADVL):c.180G>C (p.Leu60=)

SNV
Germline

Chr17:7220505

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA10650873

rs_886053372

2 SubmittersRCV000315448

NM_000018.4(ACADVL):c.969G>A (p.Leu323=)

SNV
Germline

Chr17:7222757

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA8337918

rs_749734276

2 SubmittersRCV000338520

NM_000018.4(ACADVL):c.1473A>G (p.Leu491=)

SNV
Germline

Chr17:7224184

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8338126

rs_150518187

7 SubmittersRCV000362559 RCV000428813 RCV001311108 RCV002392878

NM_000018.4(ACADVL):c.138+2T>C

SNV
Germline

Chr17:7220199

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA16041857

rs_1057516817

3 SubmittersRCV000410269

NM_000018.4(ACADVL):c.277+1G>T

SNV
Unknown

Chr17:7220677

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA16041858

rs_1057517012

1 SubmittersRCV000412197

NM_000018.4(ACADVL):c.478-1G>C

SNV
Unknown

Chr17:7221537

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA16041860

rs_1057517130

1 SubmittersRCV000411583

NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg)

SNV
Germline

Chr17:7222289

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided

Reviewed By Expert Panel

CA8337873

rs_200788251

11 SubmittersRCV000408960 RCV000489455

NM_000018.4(ACADVL):c.1077+1G>T

SNV
Germline

Chr17:7222866

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided

Reviewed By Expert Panel

CA16041867

rs_140989450

8 SubmittersRCV000412397 RCV004597792

NM_000018.4(ACADVL):c.1077+2T>C

SNV
Germline

Chr17:7222867

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided

Reviewed By Expert Panel

CA16041868

rs_1057516370

8 SubmittersRCV000411047 RCV001090638

NM_000018.4(ACADVL):c.1183-1G>A

SNV
Unknown

Chr17:7223643

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA16041871

rs_1057516818

1 SubmittersRCV000409279

NM_000018.4(ACADVL):c.1280G>A (p.Trp427Ter)

SNV
Germline

Chr17:7223823

Pathogenic/Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA16041872

rs_1057516519

3 SubmittersRCV000412097

NM_000018.4(ACADVL):c.1333-2A>T

SNV
Unknown

Chr17:7223966

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA16041873

rs_1057517280

2 SubmittersRCV000411741

NM_000018.4(ACADVL):c.1532+2T>C

SNV
Germline

Chr17:7224245

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

CA16041875

rs_111851815

5 SubmittersRCV000411534

NM_000018.4(ACADVL):c.1606-1G>A

SNV
Unknown

Chr17:7224479

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA16041876

rs_1057517386

1 SubmittersRCV000411804

NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln)

SNV
Germline

Chr17:7223993

Likely pathogenic

Myopathy
Rhabdomyolysis
Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided

Reviewed By Expert Panel

CA8338089

rs_138058572

9 SubmittersRCV000415274 RCV001075888 RCV001091164

NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp)

SNV
Germline

Chr17:7220945

Likely pathogenic

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

CA16603209

rs_1057520088

9 SubmittersRCV000432463 RCV000690847

NM_000018.4(ACADVL):c.1146G>C (p.Lys382Asn)

SNV
Germline

Chr17:7223201

Conflicting classifications of pathogenicity

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA16607872

rs_1057523504

5 SubmittersRCV000432798 RCV001200751 RCV004701479

NM_000018.4(ACADVL):c.1751+18G>A

SNV
Germline

Chr17:7224732

Conflicting classifications of pathogenicity

not specified
Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA8338238

rs_528002997

4 SubmittersRCV000432937 RCV000671356

NM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter)

SNV
Germline

Chr17:7224972

Likely pathogenic

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

CA16608642

rs_1057520507

9 SubmittersRCV000438504 RCV000537328

NM_000018.4(ACADVL):c.1013A>G (p.Asn338Ser)

SNV
Germline

Chr17:7222801

Conflicting classifications of pathogenicity

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA287437666

rs_956279629

3 SubmittersRCV000489160 RCV001041886 RCV004701548

NM_000018.4(ACADVL):c.1019G>T (p.Gly340Val)

SNV
Germline

Chr17:7222807

Conflicting classifications of pathogenicity

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency
ACADVL-related disorder

Criteria Provided
Conflicting Classifications

CA287437667

rs_934797393

6 SubmittersRCV000489813 RCV000555492 RCV003392319

NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp)

SNV
Germline

Chr17:7224711

Conflicting classifications of pathogenicity

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency
ACADVL-related disorder

Criteria Provided
Conflicting Classifications

CA397725790

rs_1085307648

7 SubmittersRCV000489971 RCV000675075 RCV003409673

NM_000018.4(ACADVL):c.533T>C (p.Leu178Pro)

SNV
Germline

Chr17:7221593

Conflicting classifications of pathogenicity

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA397723106

rs_1131691808

5 SubmittersRCV000493429 RCV001200737 RCV002524042

NM_000018.4(ACADVL):c.1434G>A (p.Met478Ile)

SNV
Germline

Chr17:7224069

Conflicting classifications of pathogenicity

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA8338099

rs_775537775

7 SubmittersRCV000494132 RCV001200759 RCV002298622

NM_000018.4(ACADVL):c.62+6T>C

SNV
Germline

Chr17:7220052

Likely pathogenic

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA645372604

rs_1555527495

2 SubmittersRCV000498130 RCV000664668

NM_000018.4(ACADVL):c.953C>T (p.Pro318Leu)

SNV
Germline

Chr17:7222741

Likely pathogenic

not specified
Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

CA287437583

rs_201676770

3 SubmittersRCV000506254 RCV000529486

NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro)

SNV
Germline

Chr17:7223158

Conflicting classifications of pathogenicity

not specified
Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8337965

rs_776063244

7 SubmittersRCV000507714 RCV000558671 RCV000726785

NM_000018.4(ACADVL):c.1183-15A>G

SNV
Germline

Chr17:7223629

Pathogenic/Likely pathogenic

not specified
Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8338032

rs_765390290

5 SubmittersRCV000506806 RCV000668926 RCV001570475

NM_000018.4(ACADVL):c.1606-22C>T

SNV
Germline

Chr17:7224458

Conflicting classifications of pathogenicity

not specified
Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA8338184

rs_370303265

3 SubmittersRCV000506906 RCV000671330

NM_000018.4(ACADVL):c.1077+1G>A

SNV
Germline

Chr17:7222866

Likely pathogenic

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

CA287437693

rs_140989450

7 SubmittersRCV000520772 RCV000666633

NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu)

SNV
Germline

Chr17:7224023

Conflicting classifications of pathogenicity

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA8338091

rs_200366828

6 SubmittersRCV000522607 RCV000809103

NM_000018.4(ACADVL):c.652G>A (p.Glu218Lys)

SNV
Germline

Chr17:7221981

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

CA397723393

rs_1432183079

5 SubmittersRCV000556767

NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala)

SNV
Germline

Chr17:7223681

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided
Inborn genetic diseases

Reviewed By Expert Panel

CA287439291

rs_904631654

8 SubmittersRCV000544920 RCV001591287 RCV004024301

NM_000018.4(ACADVL):c.1253G>A (p.Ser418Asn)

SNV
Germline

Chr17:7223714

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA397724694

rs_1555528737

1 SubmittersRCV000548112

NM_000018.4(ACADVL):c.1313G>A (p.Gly438Glu)

SNV
Germline

Chr17:7223856

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA397724846

rs_748450834

3 SubmittersRCV000551302

NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys)

SNV
Germline

Chr17:7225023

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8338308

rs_151254520

9 SubmittersRCV000525816 RCV001532300 RCV002248780

NM_000018.4(ACADVL):c.342+1G>C

SNV
Germline

Chr17:7220831

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

CA397722627

rs_780020193

3 SubmittersRCV000556138

NM_000018.4(ACADVL):c.753-27C>T

SNV
Germline

Chr17:7222150

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
not specified
Condition: not provided
ACADVL-related disorder

Criteria Provided
Conflicting Classifications

CA8337840

rs_374911841

6 SubmittersRCV000550616 RCV000603826 RCV003311848 RCV003935524

NM_000018.4(ACADVL):c.1239A>G (p.Ile413Met)

SNV
Germline

Chr17:7223700

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8338045

rs_143172658

6 SubmittersRCV000537897 RCV001508431 RCV003258873

NM_000018.4(ACADVL):c.63-2A>C

SNV
Germline

Chr17:7220120

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

CA397722016

rs_1555527513

4 SubmittersRCV000531909

NM_000018.4(ACADVL):c.1533-4T>A

SNV
Germline

Chr17:7224317

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA8338148

rs_369986567

6 SubmittersRCV000547159 RCV000604631

NM_000018.4(ACADVL):c.1820G>C (p.Cys607Ser)

SNV
Germline

Chr17:7224877

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA8338274

rs_200117742

4 SubmittersRCV000534253

NM_000018.4(ACADVL):c.1678+15C>T

SNV
Germline

Chr17:7224567

Conflicting classifications of pathogenicity

not specified
Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA8338207

rs_371402802

6 SubmittersRCV000616516 RCV000671363

NM_000018.4(ACADVL):c.1182+3G>A

SNV
Germline

Chr17:7223240

Conflicting classifications of pathogenicity

not specified
Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA658798686

rs_376281637

2 SubmittersRCV000610876 RCV002528554

NM_000018.4(ACADVL):c.1434+14T>C

SNV
Germline

Chr17:7224083

Conflicting classifications of pathogenicity

not specified
Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA8338103

rs_202217537

3 SubmittersRCV000604141 RCV001200729

NM_000018.4(ACADVL):c.431T>C (p.Leu144Pro)

SNV
Germline

Chr17:7221012

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

CA397722889

rs_1555527925

1 SubmittersRCV000652038

NM_000018.4(ACADVL):c.1076C>T (p.Ala359Val)

SNV
Germline

Chr17:7222864

Pathogenic/Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8337933

rs_539029862

8 SubmittersRCV000652045 RCV001200112

NM_000018.4(ACADVL):c.1678+23C>T

SNV
Germline

Chr17:7224575

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided
ACADVL-related disorder

Criteria Provided
Conflicting Classifications

CA8338211

rs_147546456

7 SubmittersRCV000652047 RCV001559679 RCV003937977

NM_000018.4(ACADVL):c.1878G>A (p.Trp626Ter)

SNV
Germline

Chr17:7225007

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA397726083

rs_1555529186

6 SubmittersRCV000652044 RCV002293468

NM_000018.4(ACADVL):c.1077G>A (p.Ala359=)

SNV
Germline

Chr17:7222865

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8337934

rs_779458466

6 SubmittersRCV000652035 RCV004597849

NM_000018.4(ACADVL):c.1376G>C (p.Arg459Pro)

SNV
Germline

Chr17:7224011

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA397724983

rs_751995154

3 SubmittersRCV000652030 RCV004768511

NM_000018.4(ACADVL):c.1613G>A (p.Arg538Gln)

SNV
Germline

Chr17:7224487

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8338192

rs_201350598

4 SubmittersRCV000652027 RCV003303075 RCV004792340

NM_000018.4(ACADVL):c.138+1G>A

SNV
Germline

Chr17:7220198

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

rs_747351687

5 SubmittersRCV000665642

NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu)

SNV
Germline

Chr17:7220626

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_750043368

8 SubmittersRCV000669555 RCV001731870 RCV002531230

NM_000018.4(ACADVL):c.398G>A (p.Trp133Ter)

SNV
Unknown

Chr17:7220979

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_1555527907

1 SubmittersRCV000675043

NM_000018.4(ACADVL):c.603C>G (p.Tyr201Ter)

SNV
Germline

Chr17:7221663

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

rs_371407903

5 SubmittersRCV000670134

NM_000018.4(ACADVL):c.739A>G (p.Lys247Glu)

SNV
Germline

Chr17:7222068

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_387906253

2 SubmittersRCV000668561

NM_000018.4(ACADVL):c.1246G>T (p.Ala416Ser)

SNV
Germline

Chr17:7223707

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_118204018

4 SubmittersRCV000668964

NM_000018.4(ACADVL):c.1360G>A (p.Asp454Asn)

SNV
Germline

Chr17:7223995

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_1419606204

4 SubmittersRCV000668005

NM_000018.4(ACADVL):c.3G>A (p.Met1Ile)

SNV
Unknown

Chr17:7219987

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_768236474

1 SubmittersRCV000671153

NM_000018.4(ACADVL):c.62+9G>A

SNV
Germline

Chr17:7220055

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
ACADVL-related disorder

Criteria Provided
Conflicting Classifications

rs_369512281

5 SubmittersRCV000671685 RCV003953226

NM_000018.4(ACADVL):c.1434+2T>G

SNV
Unknown

Chr17:7224071

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_1555528804

1 SubmittersRCV000669283

NM_000018.4(ACADVL):c.63-18A>G

SNV
Germline

Chr17:7220104

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_1481782237

2 SubmittersRCV000670892

NM_000018.4(ACADVL):c.256C>T (p.Gln86Ter)

SNV
Unknown

Chr17:7220655

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_1555527732

1 SubmittersRCV000667158

NM_000018.4(ACADVL):c.1606-2A>C

SNV
Unknown

Chr17:7224478

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_113467582

1 SubmittersRCV000671155

NM_000018.4(ACADVL):c.278-8C>T

SNV
Germline

Chr17:7220758

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_1178133251

2 SubmittersRCV000671740

NM_000018.4(ACADVL):c.1923G>C (p.Leu641Phe)

SNV
Germline

Chr17:7225052

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_1452402269

2 SubmittersRCV000668695

NM_000018.4(ACADVL):c.1182+2T>C

SNV
Unknown

Chr17:7223239

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_1555528635

1 SubmittersRCV000667334

NM_000018.4(ACADVL):c.277+2T>G

SNV
Germline

Chr17:7220678

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

rs_1555527745

3 SubmittersRCV000672219

NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro)

SNV
Germline

Chr17:7221679

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

rs_768975918

6 SubmittersRCV000666689

NM_000018.4(ACADVL):c.898A>G (p.Met300Val)

SNV
Germline

Chr17:7222686

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

rs_1026112888

4 SubmittersRCV000665146 RCV004526736

NM_000018.4(ACADVL):c.956C>A (p.Ser319Ter)

SNV
Germline

Chr17:7222744

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency
ACADVL-related disorder

Reviewed By Expert Panel

rs_149467828

5 SubmittersRCV000673848 RCV003420192

NM_000018.4(ACADVL):c.1198G>A (p.Val400Met)

SNV
Germline

Chr17:7223659

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
ACADVL-related disorder

Criteria Provided
Conflicting Classifications

rs_149116708

6 SubmittersRCV000666127 RCV004754523

NM_000018.4(ACADVL):c.1269+1G>A

SNV
Germline

Chr17:7223731

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

rs_773401248

6 SubmittersRCV000671502

NM_000018.4(ACADVL):c.1217A>C (p.Gln406Pro)

SNV
Germline

Chr17:7223678

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_1384021857

3 SubmittersRCV000685865

NM_000018.4(ACADVL):c.374T>C (p.Leu125Pro)

SNV
Germline

Chr17:7220955

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_1416443472

2 SubmittersRCV000706914

NM_000018.4(ACADVL):c.1269G>A (p.Ser423=)

SNV
Germline

Chr17:7223730

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_765356942

3 SubmittersRCV000690205

NM_000018.4(ACADVL):c.1024T>C (p.Phe342Leu)

SNV
Germline

Chr17:7222812

Conflicting classifications of pathogenicity

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

rs_1356652354

4 SubmittersRCV000727590 RCV001200831 RCV003489845

NM_000018.4(ACADVL):c.-11G>T

SNV
Germline

Chr17:7219974

Conflicting classifications of pathogenicity

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_780021266

2 SubmittersRCV000729633 RCV004720278

NM_000018.4(ACADVL):c.199A>T (p.Lys67Ter)

SNV
Germline

Chr17:7220524

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

rs_765432568

6 SubmittersRCV000989692

NM_000018.4(ACADVL):c.428G>A (p.Gly143Asp)

SNV
Germline

Chr17:7221009

Conflicting classifications of pathogenicity

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency
ACADVL-related disorder

Criteria Provided
Conflicting Classifications

rs_1458941582

4 SubmittersRCV000756958 RCV001200815 RCV004754556

NM_000018.4(ACADVL):c.485G>A (p.Arg162His)

SNV
Germline

Chr17:7221545

Conflicting classifications of pathogenicity

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_754756970

4 SubmittersRCV000755780 RCV000820712

NM_000018.4(ACADVL):c.1287G>A (p.Val429=)

SNV
Germline

Chr17:7223830

Conflicting classifications of pathogenicity

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_999226548

2 SubmittersRCV000756954 RCV002061028

NM_000018.4(ACADVL):c.1616C>A (p.Ala539Asp)

SNV
Germline

Chr17:7224490

Conflicting classifications of pathogenicity

not specified
Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_781613690

8 SubmittersRCV004702391 RCV001200762 RCV001731917

NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln)

SNV
Germline

Chr17:7224967

Pathogenic/Likely pathogenic

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_534647044

6 SubmittersRCV000756953 RCV001060887

NM_000018.4(ACADVL):c.1751+1G>A

SNV
Germline

Chr17:7224715

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567569262

3 SubmittersRCV000761524

NM_000018.4(ACADVL):c.689C>T (p.Thr230Ile)

SNV
Germline

Chr17:7222018

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

rs_1241935771

4 SubmittersRCV000792876 RCV004800588

NM_000018.4(ACADVL):c.1064T>C (p.Ile355Thr)

SNV
Germline

Chr17:7222852

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

rs_1351976589

3 SubmittersRCV000813585 RCV003226399

NM_000018.4(ACADVL):c.1276G>A (p.Ala426Thr)

SNV
Germline

Chr17:7223819

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_1419478766

3 SubmittersRCV000817166

NM_000018.4(ACADVL):c.1294G>T (p.Glu432Ter)

SNV
Germline

Chr17:7223837

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

rs_1597534677

2 SubmittersRCV000817615

NM_000018.4(ACADVL):c.1332G>A (p.Lys444=)

SNV
Germline

Chr17:7223875

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597534796

2 SubmittersRCV000813712

NM_000018.4(ACADVL):c.1534C>T (p.Arg512Trp)

SNV
Germline

Chr17:7224322

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_371316167

4 SubmittersRCV000808814 RCV002537298

NM_000018.4(ACADVL):c.1751+2T>C

SNV
Germline

Chr17:7224716

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_1597539537

1 SubmittersRCV000793280

NM_000018.4(ACADVL):c.205-2A>G

SNV
Germline

Chr17:7220602

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_1597518954

1 SubmittersRCV000800818

NM_000018.4(ACADVL):c.139-1G>T

SNV
Germline

Chr17:7220463

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597518019

2 SubmittersRCV000801039

NM_000018.4(ACADVL):c.1605+2T>C

SNV
Germline

Chr17:7224395

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

rs_1597537351

3 SubmittersRCV000812878

NM_000018.4(ACADVL):c.780G>A (p.Thr260=)

SNV
Germline

Chr17:7222204

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided
Inborn genetic diseases
ACADVL-related disorder

Criteria Provided
Conflicting Classifications

rs_140871321

6 SubmittersRCV000877108 RCV001644854 RCV003169201 RCV003908340

NM_000018.4(ACADVL):c.963C>T (p.Asn321=)

SNV
Germline

Chr17:7222751

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_568118142

6 SubmittersRCV000873096 RCV002372473 RCV003424413

NM_000018.4(ACADVL):c.1575C>A (p.Val525=)

SNV
Germline

Chr17:7224363

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_745996278

5 SubmittersRCV000966526 RCV003311926 RCV002391010

NM_000018.4(ACADVL):c.1605+7G>A

SNV
Germline

Chr17:7224400

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_572010910

4 SubmittersRCV000939802 RCV001091166

NM_000018.4(ACADVL):c.1827+10G>A

SNV
Germline

Chr17:7224894

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_766755156

2 SubmittersRCV001200730

NM_000018.4(ACADVL):c.1322G>C (p.Gly441Ala)

SNV
Germline

Chr17:7223865

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_2309689

2 SubmittersRCV000989694

NM_000018.4(ACADVL):c.515T>C (p.Leu172Pro)

SNV
Germline

Chr17:7221575

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

rs_1597524963

4 SubmittersRCV000995475

NM_000018.4(ACADVL):c.623-1G>A

SNV
Germline

Chr17:7221951

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

rs_1597526782

3 SubmittersRCV001001446

NM_000018.4(ACADVL):c.1194C>A (p.Tyr398Ter)

SNV
Germline

Chr17:7223655

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

rs_1597533847

3 SubmittersRCV001000184

NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp)

SNV
Germline

Chr17:7224242

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_771025937

6 SubmittersRCV001000161 RCV004792601

NM_000018.4(ACADVL):c.37C>T (p.Gln13Ter)

SNV
Germline

Chr17:7220021

Pathogenic

Rhabdomyolysis
Abnormal circulating enzyme concentration
Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

rs_63750670

2 SubmittersRCV001003624 RCV002472377

NM_000018.4(ACADVL):c.1241A>C (p.Glu414Ala)

SNV
Germline

Chr17:7223702

Pathogenic/Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597534120

4 SubmittersRCV001028002

NM_000018.4(ACADVL):c.419G>A (p.Gly140Glu)

SNV
Germline

Chr17:7221000

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

rs_2071185757

2 SubmittersRCV001042754

NM_000018.4(ACADVL):c.601T>C (p.Tyr201His)

SNV
Germline

Chr17:7221661

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_2071233789

1 SubmittersRCV001050460

NM_000018.4(ACADVL):c.722A>G (p.Tyr241Cys)

SNV
Germline

Chr17:7222051

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
ACADVL-related disorder

Criteria Provided
Conflicting Classifications

rs_575789958

3 SubmittersRCV001069204 RCV003963031

NM_000018.4(ACADVL):c.773T>C (p.Ile258Thr)

SNV
Germline

Chr17:7222197

Pathogenic/Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_1197133430

2 SubmittersRCV001059797

NM_000018.4(ACADVL):c.918C>A (p.Asn306Lys)

SNV
Germline

Chr17:7222706

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_2071288883

1 SubmittersRCV001063279

NM_000018.4(ACADVL):c.1154G>A (p.Arg385Gln)

SNV
Germline

Chr17:7223209

Conflicting classifications of pathogenicity

ACADVL-related disorder
Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_772014118

4 SubmittersRCV003928674 RCV001043789

NM_000018.4(ACADVL):c.900G>A (p.Met300Ile)

SNV
Germline

Chr17:7222688

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

No Assertion Criteria Provided

rs_2071288305

1 SubmittersRCV001075884

NM_000018.4(ACADVL):c.1310T>C (p.Met437Thr)

SNV
Germline

Chr17:7223853

Pathogenic/Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency
Abnormality of the musculature

Criteria Provided
Multiple Submitters
No Conflicts

rs_2071345821

4 SubmittersRCV001200727 RCV001814269

NM_000018.4(ACADVL):c.51C>T (p.Leu17=)

SNV
Germline

Chr17:7220035

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_376733533

2 SubmittersRCV001126459

NM_000018.4(ACADVL):c.114G>C (p.Arg38=)

SNV
Germline

Chr17:7220173

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_777380964

3 SubmittersRCV001128518

NM_000018.4(ACADVL):c.867G>T (p.Gly289=)

SNV
Germline

Chr17:7222291

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_745557512

2 SubmittersRCV001123900

NM_000018.4(ACADVL):c.1081G>A (p.Asp361Asn)

SNV
Germline

Chr17:7223136

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_1331739604

4 SubmittersRCV001126556

NM_000018.4(ACADVL):c.1186A>G (p.Met396Val)

SNV
Germline

Chr17:7223647

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_2071337130

2 SubmittersRCV001126557

NM_000018.4(ACADVL):c.1215C>T (p.Asp405=)

SNV
Germline

Chr17:7223676

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_2071338251

3 SubmittersRCV001128621

NM_000018.4(ACADVL):c.1227G>A (p.Thr409=)

SNV
Germline

Chr17:7223688

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
ACADVL-related disorder

Criteria Provided
Conflicting Classifications

rs_778531268

3 SubmittersRCV001128622 RCV003938482

NM_000018.4(ACADVL):c.343-14T>C

SNV
Germline

Chr17:7220910

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_200368309

3 SubmittersRCV001122814

NM_000018.4(ACADVL):c.709T>C (p.Cys237Arg)

SNV
Germline

Chr17:7222038

Conflicting classifications of pathogenicity

not specified
Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_1189763523

4 SubmittersRCV001193468 RCV001828597

NM_000018.4(ACADVL):c.155C>G (p.Ser52Ter)

SNV
Germline

Chr17:7220480

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

rs_2071146837

2 SubmittersRCV001200670

NM_000018.4(ACADVL):c.215C>T (p.Ser72Phe)

SNV
Germline

Chr17:7220614

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

rs_1161495077

5 SubmittersRCV001200680 RCV002282479

NM_000018.4(ACADVL):c.272C>A (p.Pro91Gln)

SNV
Germline

Chr17:7220671

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_2071160066

2 SubmittersRCV001200683

NM_000018.4(ACADVL):c.343G>T (p.Glu115Ter)

SNV
Germline

Chr17:7220924

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

rs_370146676

2 SubmittersRCV001200673

NM_000018.4(ACADVL):c.428G>C (p.Gly143Ala)

SNV
Germline

Chr17:7221009

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_1458941582

2 SubmittersRCV001200814

NM_000018.4(ACADVL):c.491T>G (p.Val164Gly)

SNV
Germline

Chr17:7221551

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_2071225938

2 SubmittersRCV001200821

NM_000018.4(ACADVL):c.513C>G (p.Asp171Glu)

SNV
Germline

Chr17:7221573

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

rs_2071227581

2 SubmittersRCV001200735 RCV003396813

NM_000018.4(ACADVL):c.602A>G (p.Tyr201Cys)

SNV
Germline

Chr17:7221662

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

rs_1597525536

3 SubmittersRCV001200733

NM_000018.4(ACADVL):c.622G>A (p.Gly208Arg)

SNV
Germline

Chr17:7221682

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_748329498

3 SubmittersRCV001200726

NM_000018.4(ACADVL):c.638C>T (p.Ala213Val)

SNV
Germline

Chr17:7221967

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_2071252145

2 SubmittersRCV001200744

NM_000018.4(ACADVL):c.668C>G (p.Ser223Ter)

SNV
Germline

Chr17:7221997

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

rs_2071253904

2 SubmittersRCV001200675

NM_000018.4(ACADVL):c.746G>A (p.Trp249Ter)

SNV
Germline

Chr17:7222075

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

rs_2071258420

3 SubmittersRCV001200799

NM_000018.4(ACADVL):c.760G>A (p.Gly254Ser)

SNV
Germline

Chr17:7222184

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
not specified
ACADVL-related disorder

Criteria Provided
Conflicting Classifications

rs_765423779

6 SubmittersRCV001200691 RCV003230646 RCV004754700

NM_000018.4(ACADVL):c.855G>C (p.Glu285Asp)

SNV
Germline

Chr17:7222279

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201509063

3 SubmittersRCV001200695 RCV001552986

NM_000018.4(ACADVL):c.896A>T (p.Lys299Met)

SNV
Germline

Chr17:7222684

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

rs_771247610

4 SubmittersRCV001200782

NM_000018.4(ACADVL):c.899T>G (p.Met300Arg)

SNV
Germline

Chr17:7222687

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_142765230

2 SubmittersRCV001200699

NM_000018.4(ACADVL):c.1045G>A (p.Ala349Thr)

SNV
Germline

Chr17:7222833

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_1567565733

3 SubmittersRCV001200833

NM_000018.4(ACADVL):c.1046C>A (p.Ala349Glu)

SNV
Germline

Chr17:7222834

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_1227564457

1 SubmittersRCV001200834

NM_000018.4(ACADVL):c.1049G>T (p.Gly350Val)

SNV
Germline

Chr17:7222837

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_1343647718

1 SubmittersRCV001200835

NM_000018.4(ACADVL):c.1321G>A (p.Gly441Ser)

SNV
Germline

Chr17:7223864

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_2071346777

2 SubmittersRCV001200704

NM_000018.4(ACADVL):c.1375C>G (p.Arg459Gly)

SNV
Germline

Chr17:7224010

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_766742117

3 SubmittersRCV001200710

NM_000018.4(ACADVL):c.1467T>G (p.Ser489Arg)

SNV
Germline

Chr17:7224178

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_771117714

3 SubmittersRCV001200760 RCV002509626

NM_000018.4(ACADVL):c.*8C>T

SNV
Germline

Chr17:7225105

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided
ACADVL-related disorder

Criteria Provided
Conflicting Classifications

rs_370513576

4 SubmittersRCV001200797 RCV001638052 RCV003973137

NM_000018.4(ACADVL):c.62+20G>A

SNV
Germline

Chr17:7220066

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_369163211

2 SubmittersRCV001200845

NM_000018.4(ACADVL):c.139-20C>T

SNV
Germline

Chr17:7220444

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_374535729

2 SubmittersRCV001200847

NM_000018.4(ACADVL):c.278-1G>A

SNV
Germline

Chr17:7220765

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

rs_1298004609

3 SubmittersRCV001200671

NM_000018.4(ACADVL):c.477+8C>T

SNV
Germline

Chr17:7221066

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_1437698813

2 SubmittersRCV001200850

NM_000018.4(ACADVL):c.477+50A>T

SNV
Germline

Chr17:7221108

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_150033153

2 SubmittersRCV001200849 RCV001534131

NM_000018.4(ACADVL):c.753-9C>T

SNV
Germline

Chr17:7222168

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_1262931604

2 SubmittersRCV001200747

NM_000018.4(ACADVL):c.753-2A>G

SNV
Germline

Chr17:7222175

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

rs_398123092

3 SubmittersRCV001200800

NM_000018.4(ACADVL):c.879-16C>A

SNV
Germline

Chr17:7222651

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_780626099

3 SubmittersRCV001200771 RCV001760160

NM_000018.4(ACADVL):c.879-8T>A

SNV
Germline

Chr17:7222659

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

rs_2071286355

2 SubmittersRCV001200781

NM_000018.4(ACADVL):c.1077+16G>A

SNV
Germline

Chr17:7222881

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_780420241

2 SubmittersRCV001200728

NM_000018.4(ACADVL):c.1182+3G>T

SNV
Germline

Chr17:7223240

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_376281637

7 SubmittersRCV001200753 RCV001551792 RCV001797826

NM_000018.4(ACADVL):c.1533-2A>C

SNV
Germline

Chr17:7224319

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_996348255

3 SubmittersRCV001200843

NM_000018.4(ACADVL):c.1605+2T>A

SNV
Germline

Chr17:7224395

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

rs_1597537351

3 SubmittersRCV001200786

NM_000018.4(ACADVL):c.790A>G (p.Lys264Glu)

SNV
Germline

Chr17:7222214

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

rs_1231343685

4 SubmittersRCV001210822

NM_000018.4(ACADVL):c.1173T>A (p.Tyr391Ter)

SNV
Germline

Chr17:7223228

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

rs_2071316298

2 SubmittersRCV001205724

NM_000018.4(ACADVL):c.878+1G>C

SNV
Germline

Chr17:7222303

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

rs_757946752

4 SubmittersRCV001211019

NM_000018.4(ACADVL):c.879-1G>A

SNV
Germline

Chr17:7222666

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_2071286572

1 SubmittersRCV001209701

NM_000018.4(ACADVL):c.480C>G (p.Tyr160Ter)

SNV
Germline

Chr17:7221540

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

rs_371910495

2 SubmittersRCV001226208

NM_000018.4(ACADVL):c.1315G>T (p.Gly439Cys)

SNV
Germline

Chr17:7223858

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_2071346311

1 SubmittersRCV001233556

NM_000018.4(ACADVL):c.1316G>T (p.Gly439Val)

SNV
Germline

Chr17:7223859

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_533055438

1 SubmittersRCV001226404

NM_000018.4(ACADVL):c.1639G>A (p.Val547Met)

SNV
Germline

Chr17:7224513

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_2071384107

1 SubmittersRCV001246701

NM_000018.4(ACADVL):c.62+1G>A

SNV
Germline

Chr17:7220047

Pathogenic/Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_2071111529

4 SubmittersRCV001236568

NM_000018.4(ACADVL):c.1384G>A (p.Glu462Lys)

SNV
Germline

Chr17:7224019

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_2071355499

2 SubmittersRCV001286682

NM_000018.4(ACADVL):c.239G>A (p.Gly80Asp)

SNV
Germline

Chr17:7220638

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_1460278489

1 SubmittersRCV001299779

NM_000018.4(ACADVL):c.294G>T (p.Gln98His)

SNV
Germline

Chr17:7220782

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

rs_794727695

2 SubmittersRCV001306639 RCV004800969

NM_000018.4(ACADVL):c.1599C>T (p.Gly533=)

SNV
Germline

Chr17:7224387

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_779770406

3 SubmittersRCV001309847 RCV001760376

NM_000018.4(ACADVL):c.1315G>C (p.Gly439Arg)

SNV
Germline

Chr17:7223858

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_2071346311

1 SubmittersRCV001316134

NM_000018.4(ACADVL):c.342+18G>A

SNV
Germline

Chr17:7220848

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_372594520

2 SubmittersRCV001334153

NM_000018.4(ACADVL):c.883C>G (p.Pro295Ala)

SNV
Germline

Chr17:7222671

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_1327386820

1 SubmittersRCV001341060

NM_000018.4(ACADVL):c.635C>T (p.Ala212Val)

SNV
Germline

Chr17:7221964

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_2142976575

1 SubmittersRCV001364012

NM_000018.4(ACADVL):c.205-2A>T

SNV
Germline

Chr17:7220602

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_1597518954

1 SubmittersRCV001377749

NM_000018.4(ACADVL):c.952C>T (p.Pro318Ser)

SNV
Germline

Chr17:7222740

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

rs_762653370

2 SubmittersRCV001376738 RCV004770131

NM_000018.4(ACADVL):c.1078-2A>G

SNV
Germline

Chr17:7223131

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_2142981920

1 SubmittersRCV001378645

NM_000018.4(ACADVL):c.190A>T (p.Lys64Ter)

SNV
Germline

Chr17:7220515

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

rs_2142964399

2 SubmittersRCV001390336

NM_000018.4(ACADVL):c.957G>A (p.Ser319=)

SNV
Germline

Chr17:7222745

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_143870522

4 SubmittersRCV001402886 RCV002225835

NM_000018.4(ACADVL):c.1881G>A (p.Gln627=)

SNV
Germline

Chr17:7225010

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_931018661

2 SubmittersRCV001559198

NM_000018.4(ACADVL):c.664G>C (p.Gly222Arg)

SNV
Germline

Chr17:7221993

Pathogenic/Likely pathogenic

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_398123091

5 SubmittersRCV001576582 RCV001803373

NM_000018.4(ACADVL):c.694G>A (p.Ala232Thr)

SNV
Germline

Chr17:7222023

Conflicting classifications of pathogenicity

Condition: not provided
Very long chain acyl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

rs_746944448

3 SubmittersRCV001756619 RCV001861051 RCV004587201

NM_000018.4(ACADVL):c.1540G>A (p.Gly514Arg)

SNV
Germline

Chr17:7224328

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

rs_370282954

3 SubmittersRCV001802356 RCV003230697

NM_000018.4(ACADVL):c.62G>A (p.Ser21Asn)

SNV
Germline

Chr17:7220046

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_753922855

2 SubmittersRCV001802604 RCV004813188

NM_000018.4(ACADVL):c.1367G>C (p.Arg456Pro)

SNV
Germline

Chr17:7224002

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_794727112

1 SubmittersRCV001989479

NM_000018.4(ACADVL):c.370G>A (p.Ala124Thr)

SNV
Germline

Chr17:7220951

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_560912181

2 SubmittersRCV001974044 RCV004612061

NM_000018.4(ACADVL):c.1226C>G (p.Thr409Arg)

SNV
Germline

Chr17:7223687

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_113994169

1 SubmittersRCV001922378

NM_000018.4(ACADVL):c.1000A>G (p.Met334Val)

SNV
Germline

Chr17:7222788

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_1487767890

1 SubmittersRCV002023288

NM_000018.4(ACADVL):c.1138C>T (p.Gln380Ter)

SNV
Germline

Chr17:7223193

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_781467053

1 SubmittersRCV001893228

NM_000018.4(ACADVL):c.418G>A (p.Gly140Arg)

SNV
Germline

Chr17:7220999

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_2142969408

1 SubmittersRCV001999308

NM_000018.4(ACADVL):c.406C>T (p.Leu136Phe)

SNV
Germline

Chr17:7220987

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_1460246415

1 SubmittersRCV001943414

NM_000018.4(ACADVL):c.740A>G (p.Lys247Arg)

SNV
Germline

Chr17:7222069

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_2142977168

1 SubmittersRCV001965524

NM_000018.4(ACADVL):c.856A>G (p.Arg286Gly)

SNV
Germline

Chr17:7222280

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency
ACADVL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_751556332

3 SubmittersRCV002041173 RCV004754831

NM_000018.4(ACADVL):c.747G>A (p.Trp249Ter)

SNV
Germline

Chr17:7222076

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_141167669

1 SubmittersRCV001946539

NM_000018.4(ACADVL):c.277+2T>C

SNV
Germline/somatic

Chr17:7220678

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency
Condition: not provided

Criteria Provided
Single Submitter

rs_1555527745

2 SubmittersRCV001933755 RCV002252730

NM_000018.4(ACADVL):c.1605+1G>C

SNV
Germline

Chr17:7224394

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_2142988018

1 SubmittersRCV001945962

NM_000018.4(ACADVL):c.1587G>T (p.Leu529Phe)

SNV
Germline

Chr17:7224375

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_2142987900

1 SubmittersRCV001939664

NM_000018.4(ACADVL):c.977T>A (p.Val326Asp)

SNV
Germline

Chr17:7222765

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_1205407134

1 SubmittersRCV001872874

NM_000018.4(ACADVL):c.655C>A (p.Pro219Thr)

SNV
Germline

Chr17:7221984

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_772898391

1 SubmittersRCV001960667

NM_000018.4(ACADVL):c.1540G>C (p.Gly514Arg)

SNV
Germline

Chr17:7224328

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_370282954

1 SubmittersRCV002042935

NM_000018.4(ACADVL):c.853G>C (p.Glu285Gln)

SNV
Germline

Chr17:7222277

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

rs_202216257

4 SubmittersRCV001994847 RCV003331248

NM_000018.4(ACADVL):c.1751+2T>A

SNV
Germline

Chr17:7224716

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_1597539537

1 SubmittersRCV001988268

NM_000018.4(ACADVL):c.661A>G (p.Ser221Gly)

SNV
Germline

Chr17:7221990

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
ACADVL-related disorder

Criteria Provided
Conflicting Classifications

rs_767063791

3 SubmittersRCV001938779 RCV003416627

NM_000018.4(ACADVL):c.1316G>C (p.Gly439Ala)

SNV
Germline

Chr17:7223859

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_533055438

1 SubmittersRCV002038041

NM_000018.4(ACADVL):c.477+1G>C

SNV
Germline

Chr17:7221059

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_2142969951

2 SubmittersRCV002033275

NM_000018.4(ACADVL):c.1096C>G (p.Arg366Gly)

SNV
Germline

Chr17:7223151

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_771874163

1 SubmittersRCV001952657

NM_000018.4(ACADVL):c.205-1G>C

SNV
Germline

Chr17:7220603

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_2142965332

1 SubmittersRCV002045963

NM_000018.4(ACADVL):c.839C>T (p.Thr280Ile)

SNV
Germline

Chr17:7222263

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_2142978093

1 SubmittersRCV002045649

NM_000018.4(ACADVL):c.1605+1G>T

SNV
Germline

Chr17:7224394

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_2142988018

2 SubmittersRCV001951405

NM_000018.4(ACADVL):c.1268C>A (p.Ser423Ter)

SNV
Germline

Chr17:7223729

Pathogenic/Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_1451455641

2 SubmittersRCV001980227

NM_000018.4(ACADVL):c.437T>G (p.Val146Gly)

SNV
Germline

Chr17:7221018

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_2142969655

1 SubmittersRCV001949554

NM_000018.4(ACADVL):c.1328T>C (p.Met443Thr)

SNV
Germline

Chr17:7223871

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_886043236

1 SubmittersRCV001934084

NM_000018.4(ACADVL):c.894G>A (p.Lys298=)

SNV
Germline

Chr17:7222682

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

rs_749598830

2 SubmittersRCV002200294

NM_000018.4(ACADVL):c.1292A>G (p.Asp431Gly)

SNV
Germline

Chr17:7223835

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_2142985073

1 SubmittersRCV002249222

NM_000018.4(ACADVL):c.1752-1G>A

SNV
Germline

Chr17:7224808

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_2142990593

1 SubmittersRCV002249223

NM_000018.4(ACADVL):c.552C>A (p.Ile184=)

SNV
Germline

Chr17:7221612

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

rs_770961747

1 SubmittersRCV002272871

NM_000018.4(ACADVL):c.342+1G>A

SNV
Germline

Chr17:7220831

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

1 SubmittersRCV002286684

NM_000018.4(ACADVL):c.277+1G>A

SNV
Germline

Chr17:7220677

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

1 SubmittersRCV002286686

NM_000018.4(ACADVL):c.1077+2T>A

SNV
Germline

Chr17:7222867

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

1 SubmittersRCV002286687

NM_000018.4(ACADVL):c.265C>T (p.Pro89Ser)

SNV
Germline

Chr17:7220664

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

2 SubmittersRCV002286691

NM_000018.4(ACADVL):c.645T>A (p.Cys215Ter)

SNV
Unknown

Chr17:7221974

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002308349

NM_000018.4(ACADVL):c.1522C>T (p.Gln508Ter)

SNV
Germline

Chr17:7224233

Pathogenic/Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002308456

NM_000018.4(ACADVL):c.740A>C (p.Lys247Thr)

SNV
Germline

Chr17:7222069

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003041270

NM_000018.4(ACADVL):c.1838G>C (p.Arg613Pro)

SNV
Germline

Chr17:7224967

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003086036

NM_000018.4(ACADVL):c.277G>A (p.Val93Met)

SNV
Germline

Chr17:7220676

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003097652

NM_000018.4(ACADVL):c.604C>T (p.Leu202Phe)

SNV
Germline

Chr17:7221664

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002592007

NM_000018.4(ACADVL):c.139-2A>T

SNV
Germline

Chr17:7220462

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002615796

NM_000018.4(ACADVL):c.1924G>A (p.Val642Met)

SNV
Germline

Chr17:7225053

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003121509

NM_000018.4(ACADVL):c.1213G>A (p.Asp405Asn)

SNV
Germline

Chr17:7223674

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002705466

NM_000018.4(ACADVL):c.58G>T (p.Gly20Ter)

SNV
Germline

Chr17:7220042

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002717372

NM_000018.4(ACADVL):c.946C>T (p.Arg316Trp)

SNV
Germline

Chr17:7222734

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002790402

NM_000018.4(ACADVL):c.854A>T (p.Glu285Val)

SNV
Germline

Chr17:7222278

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002801691

NM_000018.4(ACADVL):c.204+1G>T

SNV
Germline

Chr17:7220530

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002828213

NM_000018.4(ACADVL):c.800T>G (p.Val267Gly)

SNV
Germline

Chr17:7222224

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002856887

NM_000018.4(ACADVL):c.4C>T (p.Gln2Ter)

SNV
Germline

Chr17:7219988

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002838630

NM_000018.4(ACADVL):c.544C>T (p.Gln182Ter)

SNV
Germline

Chr17:7221604

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002862577

NM_000018.4(ACADVL):c.337T>A (p.Phe113Ile)

SNV
Germline

Chr17:7220825

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002876117

NM_000018.4(ACADVL):c.604C>G (p.Leu202Val)

SNV
Germline

Chr17:7221664

Pathogenic/Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002895688

NM_000018.4(ACADVL):c.1520A>T (p.Lys507Ile)

SNV
Germline

Chr17:7224231

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002877497

NM_000018.4(ACADVL):c.902G>A (p.Gly301Asp)

SNV
Germline

Chr17:7222690

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002974977

NM_000018.4(ACADVL):c.62+1G>T

SNV
Germline

Chr17:7220047

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002996927

NM_000018.4(ACADVL):c.753-1G>A

SNV
Germline

Chr17:7222176

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003046297

NM_000018.4(ACADVL):c.139-1G>C

SNV
Germline

Chr17:7220463

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003029548

NM_000018.4(ACADVL):c.852G>A (p.Val284=)

SNV
Germline

Chr17:7222276

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003033174

NM_000018.4(ACADVL):c.656C>A (p.Pro219His)

SNV
Germline

Chr17:7221985

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003036760

NM_000018.4(ACADVL):c.1058G>A (p.Arg353Lys)

SNV
Germline

Chr17:7222846

Conflicting classifications of pathogenicity

Inborn genetic diseases
Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002773468 RCV003497962

NM_000018.4(ACADVL):c.1194C>G (p.Tyr398Ter)

SNV
Germline

Chr17:7223655

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003134956

NM_000018.4(ACADVL):c.869G>A (p.Gly290Asp)

SNV
Germline

Chr17:7222293

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003139565

NM_000018.4(ACADVL):c.1055T>C (p.Met352Thr)

SNV
Germline

Chr17:7222843

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003139571 RCV004526976

NM_000018.4(ACADVL):c.733G>T (p.Gly245Ter)

SNV
Germline

Chr17:7222062

Pathogenic/Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003465088

NM_000018.4(ACADVL):c.1238T>C (p.Ile413Thr)

SNV
Germline

Chr17:7223699

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003474375

NM_000018.4(ACADVL):c.842C>A (p.Ala281Asp)

SNV
Unknown

Chr17:7222266

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003460225

NM_000018.4(ACADVL):c.603C>A (p.Tyr201Ter)

SNV
Unknown

Chr17:7221663

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003474414

NM_000018.4(ACADVL):c.298C>T (p.Gln100Ter)

SNV
Unknown

Chr17:7220786

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003474417

NM_000018.4(ACADVL):c.139-1G>A

SNV
Germline

Chr17:7220463

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003460244

NM_000018.4(ACADVL):c.1213G>C (p.Asp405His)

SNV
Unknown

Chr17:7223674

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003460250

NM_000018.4(ACADVL):c.1678+1G>T

SNV
Unknown

Chr17:7224553

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003460267

NM_000018.4(ACADVL):c.1234C>T (p.Gln412Ter)

SNV
Unknown

Chr17:7223695

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003460269

NM_000018.4(ACADVL):c.277+2T>A

SNV
Unknown

Chr17:7220678

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003460272

NM_000018.4(ACADVL):c.1168C>T (p.Gln390Ter)

SNV
Germline

Chr17:7223223

Pathogenic/Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003474423

NM_000018.4(ACADVL):c.643T>C (p.Cys215Arg)

SNV
Germline

Chr17:7221972

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

1 SubmittersRCV003455820

NM_000018.4(ACADVL):c.490G>T (p.Val164Leu)

SNV
Germline

Chr17:7221550

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003498212

NM_000018.4(ACADVL):c.62+2T>C

SNV
Germline

Chr17:7220048

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003498099

NM_000018.4(ACADVL):c.595G>T (p.Glu199Ter)

SNV
Germline

Chr17:7221655

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003498954

NM_000018.4(ACADVL):c.1097G>C (p.Arg366Pro)

SNV
Germline

Chr17:7223152

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003498913

NM_000018.4(ACADVL):c.1624C>T (p.Gln542Ter)

SNV
Germline

Chr17:7224498

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003499209

NM_000018.4(ACADVL):c.1820G>T (p.Cys607Phe)

SNV
Germline

Chr17:7224877

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003499835

NM_000018.4(ACADVL):c.1413T>G (p.Phe471Leu)

SNV
Germline

Chr17:7224048

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003499698

NM_000018.4(ACADVL):c.1619T>C (p.Leu540Pro)

SNV
Germline

Chr17:7224493

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003499998

NM_000018.4(ACADVL):c.1097G>T (p.Arg366Leu)

SNV
Germline

Chr17:7223152

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003499977

NM_000018.4(ACADVL):c.1469C>T (p.Ala490Val)

SNV
Germline

Chr17:7224180

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003497528

NM_000018.4(ACADVL):c.1567G>T (p.Gly523Ter)

SNV
Germline

Chr17:7224355

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003497662

NM_000018.4(ACADVL):c.490G>A (p.Val164Met)

SNV
Germline

Chr17:7221550

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003497768

NM_000018.4(ACADVL):c.1469C>G (p.Ala490Gly)

SNV
Germline

Chr17:7224180

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003498435

NM_000018.4(ACADVL):c.655C>T (p.Pro219Ser)

SNV
Germline

Chr17:7221984

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003498560

NM_000018.4(ACADVL):c.1182+1G>T

SNV
Germline

Chr17:7223238

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003498313

NM_000018.4(ACADVL):c.1816T>C (p.Trp606Arg)

SNV
Germline

Chr17:7224873

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003499383

NM_000018.4(ACADVL):c.829G>T (p.Glu277Ter)

SNV
Germline

Chr17:7222253

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003498625

NM_000018.4(ACADVL):c.553G>T (p.Gly185Cys)

SNV
Germline

Chr17:7221613

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003499350

NM_000018.4(ACADVL):c.710G>A (p.Cys237Tyr)

SNV
Germline

Chr17:7222039

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003498657 RCV004701759

NM_000018.4(ACADVL):c.481G>T (p.Ala161Ser)

SNV
Germline

Chr17:7221541

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003600504

NM_000018.4(ACADVL):c.482C>A (p.Ala161Asp)

SNV
Germline

Chr17:7221542

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003600487

NM_000018.4(ACADVL):c.1838G>T (p.Arg613Leu)

SNV
Germline

Chr17:7224967

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003600721

NM_000018.4(ACADVL):c.366T>G (p.Asn122Lys)

SNV
Germline

Chr17:7220947

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003600685

NM_000018.4(ACADVL):c.1001T>C (p.Met334Thr)

SNV
Germline

Chr17:7222789

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003601398

NM_000018.4(ACADVL):c.491T>A (p.Val164Glu)

SNV
Germline

Chr17:7221551

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003601428

NM_000018.4(ACADVL):c.373C>G (p.Leu125Val)

SNV
Germline

Chr17:7220954

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003601656

NM_000018.4(ACADVL):c.1679-1G>A

SNV
Germline

Chr17:7224641

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003601830

NM_000018.4(ACADVL):c.1752-2A>G

SNV
Germline

Chr17:7224807

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003601676

NM_000018.4(ACADVL):c.1533-2A>G

SNV
Germline

Chr17:7224319

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003602300

NM_000018.4(ACADVL):c.1605+1G>A

SNV
Germline

Chr17:7224394

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003602328

NM_000018.4(ACADVL):c.1002G>A (p.Met334Ile)

SNV
Germline

Chr17:7222790

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003602440

NM_000018.4(ACADVL):c.1757C>G (p.Ser586Ter)

SNV
Germline

Chr17:7224814

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003599885

NM_000018.4(ACADVL):c.1054A>G (p.Met352Val)

SNV
Germline

Chr17:7222842

Conflicting classifications of pathogenicity

Very long chain acyl-CoA dehydrogenase deficiency
not specified

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003602458 RCV004701786

NM_000018.4(ACADVL):c.239G>C (p.Gly80Ala)

SNV
Germline

Chr17:7220638

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003600069

NM_000018.4(ACADVL):c.739A>T (p.Lys247Ter)

SNV
Germline

Chr17:7222068

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003599893

NM_000018.4(ACADVL):c.839C>G (p.Thr280Arg)

SNV
Germline

Chr17:7222263

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003599987

NM_000018.4(ACADVL):c.1747T>G (p.Ser583Ala)

SNV
Germline

Chr17:7224710

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003599947

NM_000018.4(ACADVL):c.1183-2A>C

SNV
Germline

Chr17:7223642

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003599951

NM_000018.4(ACADVL):c.1121A>C (p.His374Pro)

SNV
Germline

Chr17:7223176

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003600316

NM_000018.4(ACADVL):c.857G>A (p.Arg286Lys)

SNV
Germline

Chr17:7222281

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003600295

NM_000018.4(ACADVL):c.238G>C (p.Gly80Arg)

SNV
Germline

Chr17:7220637

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003600304

NM_000018.4(ACADVL):c.879-2A>G

SNV
Germline

Chr17:7222665

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003600308

NM_000018.4(ACADVL):c.139-2A>G

SNV
Germline

Chr17:7220462

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003600335

NM_000018.4(ACADVL):c.1274C>T (p.Ala425Val)

SNV
Germline

Chr17:7223817

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003601255

NM_000018.4(ACADVL):c.656C>T (p.Pro219Leu)

SNV
Germline

Chr17:7221985

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003601140

NM_000018.4(ACADVL):c.1313G>C (p.Gly438Ala)

SNV
Germline

Chr17:7223856

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003601294

NM_000018.4(ACADVL):c.761G>A (p.Gly254Asp)

SNV
Germline

Chr17:7222185

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003601298

NM_000018.4(ACADVL):c.741G>C (p.Lys247Asn)

SNV
Germline

Chr17:7222070

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003602008

NM_000018.4(ACADVL):c.477+1G>A

SNV
Germline

Chr17:7221059

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003601871

NM_000018.4(ACADVL):c.1925T>C (p.Val642Ala)

SNV
Germline

Chr17:7225054

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003812104

NM_000018.4(ACADVL):c.1519A>G (p.Lys507Glu)

SNV
Germline

Chr17:7224230

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003818206

NM_000018.4(ACADVL):c.1081G>T (p.Asp361Tyr)

SNV
Germline

Chr17:7223136

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003838264

NM_000018.4(ACADVL):c.1332+2T>C

SNV
Germline

Chr17:7223877

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003846478

NM_000018.4(ACADVL):c.965T>C (p.Val322Ala)

SNV
Germline

Chr17:7222753

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003865805

NM_000018.4(ACADVL):c.665G>C (p.Gly222Ala)

SNV
Germline

Chr17:7221994

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003872432

NM_000018.4(ACADVL):c.514C>T (p.Leu172Phe)

SNV
Germline

Chr17:7221574

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003864987

NM_000018.4(ACADVL):c.477+2T>G

SNV
Germline

Chr17:7221060

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003864833

NM_000018.4(ACADVL):c.1348C>T (p.Arg450Cys)

SNV
Germline

Chr17:7223983

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003878694

NM_000018.4(ACADVL):c.1678+1G>A

SNV
Unknown

Chr17:7224553

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV004573969

NM_000018.4(ACADVL):c.1533-1G>C

SNV
Unknown

Chr17:7224320

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV004573989

NM_000018.4(ACADVL):c.1077+6T>A

SNV
Unknown

Chr17:7222871

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV004574008

NM_000018.4(ACADVL):c.1332+1G>C

SNV
Unknown

Chr17:7223876

Likely pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV004575423

NM_000018.4(ACADVL):c.1827+1G>A

SNV
Germline

Chr17:7224885

Pathogenic

Very long chain acyl-CoA dehydrogenase deficiency

Reviewed By Expert Panel

1 SubmittersRCV004586515