ClinVar Miner

List of variants in gene ACADVL reported as pathogenic by GeneDx

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Total variants: 31
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HGVS dbSNP
NM_000018.2(ACADVL):c.1182+1G>A rs113690956
NM_000018.2(ACADVL):c.343delG (p.Glu115Lysfs) rs387906249
NM_000018.3(ACADVL):c.1375dup rs796051916
NM_000018.4(ACADVL):c.1077+1G>A rs140989450
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His) rs112406105
NM_000018.4(ACADVL):c.1316G>A (p.Gly439Asp) rs533055438
NM_000018.4(ACADVL):c.1316dup (p.Met440fs) rs748077880
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154
NM_000018.4(ACADVL):c.1630_1645del (p.Ala544fs) rs1131691553
NM_000018.4(ACADVL):c.1679-6G>A rs113994171
NM_000018.4(ACADVL):c.1730_1740del (p.Ala577fs) rs1057518411
NM_000018.4(ACADVL):c.1804_1805CT[1] (p.Leu602_Cys603insTer) rs796051917
NM_000018.4(ACADVL):c.1807dup (p.Cys603fs) rs1555529088
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp) rs118204014
NM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter) rs1057520507
NM_000018.4(ACADVL):c.210dup (p.Lys71Ter) rs796051912
NM_000018.4(ACADVL):c.316_325del (p.Val106fs) rs1057518506
NM_000018.4(ACADVL):c.428_467del (p.Gly143fs) rs758144859
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del) rs796051920
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) rs727503791
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser) rs545215807
NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter) rs727503788
NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter) rs786204536
NM_000018.4(ACADVL):c.753-2A>C rs398123092
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met) rs113994168
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg) rs200788251
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) rs200573371
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs) rs753108198
NM_000018.4(ACADVL):c.890_892AGA[2] (p.Lys299del) rs387906252

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