ClinVar for MedGen (Select 854382) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25074191.	NM_000018.4(ACADVL):c.1332+2T>A GRCh37: Chr17:7127196 GRCh38: Chr17:7223877	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Jun 27, 2023)	reviewed by expert panel FDA Recognized Database
Select item 25074182.	NM_000018.4(ACADVL):c.1444_1448del (p.Lys482fs) GRCh37: Chr17:7127468-7127472 GRCh38: Chr17:7224149-7224153	ACADVL	K406fs, K460fs, K482fs, K505fs	Very long chain acyl-CoA dehydrogenase deficiency	Pathogenic (Jun 27, 2023)	reviewed by expert panel FDA Recognized Database
Select item 24468903.	NM_000018.4(ACADVL):c.997_998insT (p.Ala333fs) GRCh37: Chr17:7126104-7126105 GRCh38: Chr17:7222785-7222786	ACADVL	A356fs, A257fs, A311fs, A333fs	Very long chain acyl-CoA dehydrogenase deficiency	Pathogenic (Mar 28, 2023)	reviewed by expert panel FDA Recognized Database
Select item 24468894.	NM_000018.4(ACADVL):c.579C>T (p.Gly193=) GRCh37: Chr17:7124958 GRCh38: Chr17:7221639	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely benign (Feb 13, 2023)	reviewed by expert panel FDA Recognized Database
Select item 24468885.	NM_000018.4(ACADVL):c.335dup (p.Phe113fs) GRCh37: Chr17:7124139-7124140 GRCh38: Chr17:7220820-7220821	ACADVL	F136fs, F113fs, F37fs, F91fs	Very long chain acyl-CoA dehydrogenase deficiency	Likely pathogenic (Feb 13, 2023)	reviewed by expert panel FDA Recognized Database
Select item 24440716.	NM_000018.4(ACADVL):c.1679-40T>G GRCh37: Chr17:7127921 GRCh38: Chr17:7224602	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 24388197.	NM_000018.4(ACADVL):c.1055T>C (p.Met352Thr) GRCh37: Chr17:7126162 GRCh38: Chr17:7222843	ACADVL	M276T, M330T, M352T, M375T	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Dec 7, 2022)	criteria provided, single submitter
Select item 24388188.	NM_000018.4(ACADVL):c.1801A>G (p.Met601Val) GRCh37: Chr17:7128177 GRCh38: Chr17:7224858	ACADVL	M525V, M579V, M601V, M624V	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Sep 4, 2020)	criteria provided, single submitter
Select item 24388179.	NM_000018.4(ACADVL):c.455G>T (p.Gly152Val) GRCh37: Chr17:7124355 GRCh38: Chr17:7221036	ACADVL	G130V, G152V, G175V, G76V	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (May 26, 2020)	criteria provided, single submitter
Select item 243881610.	NM_000018.4(ACADVL):c.897G>C (p.Lys299Asn) GRCh37: Chr17:7126004 GRCh38: Chr17:7222685	ACADVL	K223N, K277N, K299N, K322N	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 243881511.	NM_000018.4(ACADVL):c.753-36C>T GRCh37: Chr17:7125460 GRCh38: Chr17:7222141	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Mar 3, 2021)	criteria provided, single submitter
Select item 243881412.	NM_000018.4(ACADVL):c.1580C>T (p.Pro527Leu) GRCh37: Chr17:7127687 GRCh38: Chr17:7224368	ACADVL	P451L, P505L, P527L, P550L	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 243881313.	NM_000018.4(ACADVL):c.869G>A (p.Gly290Asp) GRCh37: Chr17:7125612 GRCh38: Chr17:7222293	ACADVL	G214D, G268D, G290D, G313D	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Jan 10, 2022)	criteria provided, single submitter
Select item 243881214.	NM_000018.4(ACADVL):c.1751G>A (p.Arg584Lys) GRCh37: Chr17:7128033 GRCh38: Chr17:7224714	ACADVL	R508K, R562K, R584K, R607K	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 243491415.	NM_000018.4(ACADVL):c.1194C>G (p.Tyr398Ter) GRCh37: Chr17:7126974 GRCh38: Chr17:7223655	ACADVL	Y322, Y376, Y398, Y421	Very long chain acyl-CoA dehydrogenase deficiency	Pathogenic (Apr 22, 2022)	criteria provided, single submitter
Select item 242869916.	NM_001365.4(DLG4):c.159+455G>T GRCh37: Chr17:7121105 GRCh38: Chr17:7217786	ACADVL, DLG4		Very long chain acyl-CoA dehydrogenase deficiency	Benign (Oct 25, 2022)	criteria provided, single submitter
Select item 242804117.	NM_000018.4(ACADVL):c.1347G>A (p.Glu449=) GRCh37: Chr17:7127301 GRCh38: Chr17:7223982	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 242213918.	NC_000017.10:g.(?_7123304)_(8193254_?)del GRCh37: Chr17:7123304-8193254	NEURL4, NLGN2, PLSCR3, POLR2A, RANGRF, SAT2, PER1, PFAS, PHF23, ACADVL, ACAP1, ALOX12B, ALOX15B, ALOXE3, ATP1B2, AURKB, BORCS6, CD68, CHD3, CHRNB1, CLDN7, CNTROB, CTC1, CTDNEP1, CYB5D1, DLG4, DNAH2, DVL2, EFNB3, EIF4A1, EIF5A, ELP5, FGF11, FXR2, GABARAP, GPS2, GUCY2D, HES7, KCNAB3, KCTD11, KDM6B, MPDU1, NAA38, SENP3, SHBG, SLC25A35, SLC2A4, SLC35G6, SOX15, SPEM1, SPEM2, TMEM102, TMEM107, TMEM256, TMEM88, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TRR-TCT2-1, TP53, TRAPPC1, TRG-GCC2-6, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, VAMP2, WRAP53, YBX2, ZBTB4		Very long chain acyl-CoA dehydrogenase deficiency	Pathogenic (Nov 9, 2021)	criteria provided, single submitter
Select item 242213819.	NC_000017.10:g.(?_7124120)_(7128078_?)del GRCh37: Chr17:7124120-7128078	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Pathogenic (Jan 22, 2022)	criteria provided, single submitter
Select item 242213720.	NC_000017.10:g.(?_7126433)_(7126544_?)del GRCh37: Chr17:7126433-7126544	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Pathogenic (Aug 31, 2022)	criteria provided, single submitter
Select item 242213621.	NC_000017.10:g.(?_6328780)_(7606804_?)dup GRCh37: Chr17:6328780-7606804	ASGR2, BCL6B, C17orf100, C17orf49, CD68, ATP1B2, CHRNB1, CLDN7, CLEC10A, ACADVL, ACAP1, AIPL1, ALOX12, ASGR1, CTDNEP1, DLG4, DVL2, EIF4A1, EIF5A, ELP5, FBXO39, FGF11, FXR2, GABARAP, GPS2, KCTD11, KIAA0753, MED31, MIR195, MIR497HG, MPDU1, NEURL4, NLGN2, PHF23, PIMREG, PITPNM3, PLSCR3, POLR2A, RNASEK, SAT2, SENP3, SHBG, SLC13A5, SLC16A11, SLC16A13, SLC2A4, SLC35G6, SOX15, SPEM1, SPEM2, TEKT1, TMEM102, TMEM256, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, TXNDC17, WRAP53, XAF1, YBX2, ZBTB4		Congenital myasthenic syndrome 2A, Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 242002522.	NM_000018.4(ACADVL):c.138+11G>T GRCh37: Chr17:7123527 GRCh38: Chr17:7220208	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 241876023.	NM_000018.4(ACADVL):c.1924G>A (p.Val642Met) GRCh37: Chr17:7128372 GRCh38: Chr17:7225053	ACADVL	V642M, V665M, V566M, V620M	Very long chain acyl-CoA dehydrogenase deficiency	Likely pathogenic (Sep 19, 2022)	criteria provided, single submitter
Select item 241544224.	NM_000018.4(ACADVL):c.65C>T (p.Ser22Leu) GRCh37: Chr17:7123443 GRCh38: Chr17:7220124	ACADVL	S22L, S45L	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 241522525.	NM_000018.4(ACADVL):c.244C>A (p.Leu82Ile) GRCh37: Chr17:7123962 GRCh38: Chr17:7220643	ACADVL	L105I, L60I, L6I, L82I	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Dec 28, 2021)	criteria provided, single submitter
Select item 241506326.	NM_000018.4(ACADVL):c.1958T>C (p.Leu653Pro) GRCh37: Chr17:7128406 GRCh38: Chr17:7225087	ACADVL	L577P, L631P, L653P, L676P	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 241502127.	NM_000018.4(ACADVL):c.1605+15G>T GRCh37: Chr17:7127727 GRCh38: Chr17:7224408	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 241461628.	NM_000018.4(ACADVL):c.906C>T (p.Ile302=) GRCh37: Chr17:7126013 GRCh38: Chr17:7222694	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 220234229.	NM_000018.4(ACADVL):c.1332+19C>G GRCh37: Chr17:7127213 GRCh38: Chr17:7223894	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely benign (Dec 29, 2021)	criteria provided, single submitter
Select item 220169930.	NM_000018.4(ACADVL):c.342+17G>C GRCh37: Chr17:7124166 GRCh38: Chr17:7220847	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 220069231.	NM_000018.4(ACADVL):c.1605+5_1605+6inv GRCh37: Chr17:7127717-7127718 GRCh38: Chr17:7224398-7224399	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Jul 31, 2022)	criteria provided, single submitter
Select item 220061932.	NM_000018.4(ACADVL):c.1777C>T (p.His593Tyr) GRCh37: Chr17:7128153 GRCh38: Chr17:7224834	ACADVL	H616Y, H517Y, H571Y, H593Y	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 220026033.	NM_000018.4(ACADVL):c.1333-7G>C GRCh37: Chr17:7127280 GRCh38: Chr17:7223961	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 219950334.	NM_000018.4(ACADVL):c.1760G>A (p.Arg587Lys) GRCh37: Chr17:7128136 GRCh38: Chr17:7224817	ACADVL	R511K, R587K, R565K, R610K	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 219890735.	NM_000018.4(ACADVL):c.1720G>A (p.Asp574Asn) GRCh37: Chr17:7128002 GRCh38: Chr17:7224683	ACADVL	D552N, D597N, D498N, D574N	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 219827436.	NM_000018.4(ACADVL):c.833A>T (p.Lys278Met) GRCh37: Chr17:7125576 GRCh38: Chr17:7222257	ACADVL	K278M, K301M, K202M, K256M	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Jul 31, 2022)	criteria provided, single submitter
Select item 219619737.	NM_000018.4(ACADVL):c.1764C>T (p.Ser588=) GRCh37: Chr17:7128140 GRCh38: Chr17:7224821	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 219597238.	NM_000018.4(ACADVL):c.1835C>T (p.Ala612Val) GRCh37: Chr17:7128283 GRCh38: Chr17:7224964	ACADVL	A536V, A635V, A590V, A612V	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 219136339.	NM_000018.4(ACADVL):c.1074G>A (p.Lys358=) GRCh37: Chr17:7126181 GRCh38: Chr17:7222862	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 218842540.	NM_000018.4(ACADVL):c.461G>A (p.Gly154Asp) GRCh37: Chr17:7124361 GRCh38: Chr17:7221042	ACADVL	G154D, G132D, G177D, G78D	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 218703141.	NM_000018.4(ACADVL):c.644G>C (p.Cys215Ser) GRCh37: Chr17:7125292 GRCh38: Chr17:7221973	ACADVL	C215S, C238S, C139S, C193S	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 218565942.	NM_000018.4(ACADVL):c.1434+19T>C GRCh37: Chr17:7127407 GRCh38: Chr17:7224088	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely benign (Aug 25, 2022)	criteria provided, single submitter
Select item 218460943.	NM_000018.4(ACADVL):c.478-7C>T GRCh37: Chr17:7124850 GRCh38: Chr17:7221531	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 218451244.	NM_000018.4(ACADVL):c.1751+16G>T GRCh37: Chr17:7128049 GRCh38: Chr17:7224730	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 218445345.	NM_000018.4(ACADVL):c.139-2A>T GRCh37: Chr17:7123781 GRCh38: Chr17:7220462	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely pathogenic (Aug 21, 2022)	criteria provided, single submitter
Select item 218424446.	NM_000018.4(ACADVL):c.139-15C>T GRCh37: Chr17:7123768 GRCh38: Chr17:7220449	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 218346447.	NM_000018.4(ACADVL):c.435A>G (p.Gln145=) GRCh37: Chr17:7124335 GRCh38: Chr17:7221016	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 218242548.	NM_000018.4(ACADVL):c.604C>T (p.Leu202Phe) GRCh37: Chr17:7124983 GRCh38: Chr17:7221664	ACADVL	L126F, L225F, L180F, L202F	Very long chain acyl-CoA dehydrogenase deficiency	Likely pathogenic (Oct 31, 2022)	criteria provided, single submitter
Select item 217591249.	NM_000018.4(ACADVL):c.1455T>C (p.Ser485=) GRCh37: Chr17:7127485 GRCh38: Chr17:7224166	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely benign (Jan 14, 2022)	criteria provided, single submitter
Select item 217450150.	NM_000018.4(ACADVL):c.1930C>T (p.Arg644Trp) GRCh37: Chr17:7128378 GRCh38: Chr17:7225059	ACADVL	R622W, R644W, R568W, R667W	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 217391051.	NM_000018.4(ACADVL):c.171T>A (p.Ser57=) GRCh37: Chr17:7123815 GRCh38: Chr17:7220496	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 217338852.	NM_000018.4(ACADVL):c.1659del (p.Lys553fs) GRCh37: Chr17:7127849 GRCh38: Chr17:7224530	ACADVL	K553fs, K477fs, K576fs, K531fs	Very long chain acyl-CoA dehydrogenase deficiency	Pathogenic (May 11, 2022)	criteria provided, single submitter
Select item 217265253.	NM_000018.4(ACADVL):c.277G>A (p.Val93Met) GRCh37: Chr17:7123995 GRCh38: Chr17:7220676	ACADVL	V17M, V93M, V116M, V71M	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 217180654.	NM_000018.4(ACADVL):c.1752-19A>G GRCh37: Chr17:7128109 GRCh38: Chr17:7224790	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely benign (Oct 11, 2022)	criteria provided, single submitter
Select item 217054255.	NM_000018.4(ACADVL):c.108C>T (p.Ala36=) GRCh37: Chr17:7123486 GRCh38: Chr17:7220167	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 216825756.	NM_000018.4(ACADVL):c.1240G>A (p.Glu414Lys) GRCh37: Chr17:7127020 GRCh38: Chr17:7223701	ACADVL	E437K, E338K, E392K, E414K	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 216824157.	NM_000018.4(ACADVL):c.753-9C>A GRCh37: Chr17:7125487 GRCh38: Chr17:7222168	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 216754958.	NM_000018.4(ACADVL):c.769G>A (p.Asp257Asn) GRCh37: Chr17:7125512 GRCh38: Chr17:7222193	ACADVL	D181N, D257N, D280N, D235N	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 216535459.	NM_000018.4(ACADVL):c.1162A>T (p.Met388Leu) GRCh37: Chr17:7126536 GRCh38: Chr17:7223217	ACADVL	M312L, M388L, M366L, M411L	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 216519260.	NM_000018.4(ACADVL):c.1174G>A (p.Val392Ile) GRCh37: Chr17:7126548 GRCh38: Chr17:7223229	ACADVL	V392I, V370I, V316I, V415I	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 216394561.	NM_000018.4(ACADVL):c.26G>C (p.Ser9Thr) GRCh37: Chr17:7123329 GRCh38: Chr17:7220010	ACADVL, DLG4	S9T	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 216371262.	NM_000018.4(ACADVL):c.765A>G (p.Leu255=) GRCh37: Chr17:7125508 GRCh38: Chr17:7222189	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely benign (Apr 30, 2022)	criteria provided, single submitter
Select item 216165163.	NM_000018.4(ACADVL):c.478-8C>T GRCh37: Chr17:7124849 GRCh38: Chr17:7221530	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 216161764.	NM_000018.4(ACADVL):c.1828-4C>A GRCh37: Chr17:7128272 GRCh38: Chr17:7224953	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 216023865.	NM_000018.4(ACADVL):c.886C>T (p.Pro296Ser) GRCh37: Chr17:7125993 GRCh38: Chr17:7222674	ACADVL	P274S, P319S, P296S, P220S	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 215979166.	NM_000018.4(ACADVL):c.1838G>C (p.Arg613Pro) GRCh37: Chr17:7128286 GRCh38: Chr17:7224967	ACADVL	R537P, R591P, R613P, R636P	Very long chain acyl-CoA dehydrogenase deficiency	Pathogenic (Mar 17, 2022)	criteria provided, single submitter
Select item 215973967.	NM_000018.4(ACADVL):c.1769G>T (p.Ser590Ile) GRCh37: Chr17:7128145 GRCh38: Chr17:7224826	ACADVL	S514I, S568I, S590I, S613I	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 215917168.	NM_000018.4(ACADVL):c.443G>C (p.Ser148Thr) GRCh37: Chr17:7124343 GRCh38: Chr17:7221024	ACADVL	S148T, S171T, S72T, S126T	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 215842569.	NM_000018.4(ACADVL):c.390G>C (p.Glu130Asp) GRCh37: Chr17:7124290 GRCh38: Chr17:7220971	ACADVL	E130D, E153D, E108D, E54D	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 215773170.	NM_000018.4(ACADVL):c.278-20C>T GRCh37: Chr17:7124065 GRCh38: Chr17:7220746	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 215694971.	NM_000018.4(ACADVL):c.64T>C (p.Ser22Pro) GRCh37: Chr17:7123442 GRCh38: Chr17:7220123	ACADVL	S22P, S45P	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 215576072.	NM_000018.4(ACADVL):c.343-8T>A GRCh37: Chr17:7124235 GRCh38: Chr17:7220916	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 215572773.	NM_000018.4(ACADVL):c.821C>T (p.Ala274Val) GRCh37: Chr17:7125564 GRCh38: Chr17:7222245	ACADVL	A252V, A274V, A297V, A198V	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 215552774.	NM_000018.4(ACADVL):c.1784C>G (p.Thr595Arg) GRCh37: Chr17:7128160 GRCh38: Chr17:7224841	ACADVL	T519R, T595R, T618R, T573R	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 215552675.	NM_000018.4(ACADVL):c.1784C>T (p.Thr595Met) GRCh37: Chr17:7128160 GRCh38: Chr17:7224841	ACADVL	T519M, T618M, T573M, T595M	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 215315876.	NM_000018.4(ACADVL):c.1536G>A (p.Arg512=) GRCh37: Chr17:7127643 GRCh38: Chr17:7224324	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 215153677.	NM_000018.4(ACADVL):c.1752-4C>T GRCh37: Chr17:7128124 GRCh38: Chr17:7224805	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 214998478.	NM_000018.4(ACADVL):c.9G>A (p.Ala3=) GRCh37: Chr17:7123312 GRCh38: Chr17:7219993	DLG4, ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 214683779.	NM_000018.4(ACADVL):c.59G>A (p.Gly20Glu) GRCh37: Chr17:7123362 GRCh38: Chr17:7220043	ACADVL, DLG4	G20E	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 214480780.	NM_000018.4(ACADVL):c.752+6C>G GRCh37: Chr17:7125406 GRCh38: Chr17:7222087	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 214239781.	NM_000018.4(ACADVL):c.697G>A (p.Val233Met) GRCh37: Chr17:7125345 GRCh38: Chr17:7222026	ACADVL	V233M, V211M, V256M, V157M	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 214057882.	NM_000018.4(ACADVL):c.612G>C (p.Lys204Asn) GRCh37: Chr17:7124991 GRCh38: Chr17:7221672	ACADVL	K227N, K182N, K128N, K204N	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Jun 11, 2022)	criteria provided, single submitter
Select item 213953183.	NM_000018.4(ACADVL):c.879-13T>C GRCh37: Chr17:7125973 GRCh38: Chr17:7222654	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 213789184.	NM_000018.4(ACADVL):c.740A>C (p.Lys247Thr) GRCh37: Chr17:7125388 GRCh38: Chr17:7222069	ACADVL	K225T, K171T, K270T, K247T	Very long chain acyl-CoA dehydrogenase deficiency	Likely pathogenic (Oct 3, 2022)	criteria provided, single submitter
Select item 213788985.	NM_000018.4(ACADVL):c.272C>T (p.Pro91Leu) GRCh37: Chr17:7123990 GRCh38: Chr17:7220671	ACADVL	P114L, P15L, P69L, P91L	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 213580886.	NM_000018.4(ACADVL):c.1770T>C (p.Ser590=) GRCh37: Chr17:7128146 GRCh38: Chr17:7224827	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely benign (May 9, 2022)	criteria provided, single submitter
Select item 213579887.	NM_000018.4(ACADVL):c.57C>G (p.Gly19=) GRCh37: Chr17:7123360 GRCh38: Chr17:7220041	DLG4, ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (May 9, 2022)	criteria provided, single submitter
Select item 213568288.	NM_000018.4(ACADVL):c.891G>A (p.Glu297=) GRCh37: Chr17:7125998 GRCh38: Chr17:7222679	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 213549989.	NM_000018.4(ACADVL):c.753-8T>C GRCh37: Chr17:7125488 GRCh38: Chr17:7222169	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely benign (May 13, 2022)	criteria provided, single submitter
Select item 213248490.	NM_000018.4(ACADVL):c.656C>A (p.Pro219His) GRCh37: Chr17:7125304 GRCh38: Chr17:7221985	ACADVL	P197H, P219H, P242H, P143H	Very long chain acyl-CoA dehydrogenase deficiency	Likely pathogenic (May 1, 2022)	criteria provided, single submitter
Select item 213189091.	NM_000018.4(ACADVL):c.976G>T (p.Val326Phe) GRCh37: Chr17:7126083 GRCh38: Chr17:7222764	ACADVL	V250F, V304F, V326F, V349F	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 213174492.	NM_000018.4(ACADVL):c.879-14C>G GRCh37: Chr17:7125972 GRCh38: Chr17:7222653	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 213046993.	NM_000018.4(ACADVL):c.651C>A (p.Thr217=) GRCh37: Chr17:7125299 GRCh38: Chr17:7221980	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 212949294.	NM_000018.4(ACADVL):c.770A>G (p.Asp257Gly) GRCh37: Chr17:7125513 GRCh38: Chr17:7222194	ACADVL	D257G, D235G, D181G, D280G	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 212873295.	NM_000018.4(ACADVL):c.398G>C (p.Trp133Ser) GRCh37: Chr17:7124298 GRCh38: Chr17:7220979	ACADVL	W133S, W57S, W156S, W111S	Very long chain acyl-CoA dehydrogenase deficiency	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 212800896.	NM_000018.4(ACADVL):c.204+18C>A GRCh37: Chr17:7123866 GRCh38: Chr17:7220547	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 212800797.	NM_000018.4(ACADVL):c.200_204+19del GRCh37: Chr17:7123839-7123862 GRCh38: Chr17:7220520-7220543	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely pathogenic (Apr 19, 2022)	criteria provided, single submitter
Select item 212612298.	NM_000018.4(ACADVL):c.879-18C>T GRCh37: Chr17:7125968 GRCh38: Chr17:7222649	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely benign (Apr 22, 2022)	criteria provided, single submitter
Select item 212420499.	NM_000018.4(ACADVL):c.1533-6T>C GRCh37: Chr17:7127634 GRCh38: Chr17:7224315	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 2123273100.	NM_000018.4(ACADVL):c.711T>C (p.Cys237=) GRCh37: Chr17:7125359 GRCh38: Chr17:7222040	ACADVL		Very long chain acyl-CoA dehydrogenase deficiency	Likely benign (Apr 8, 2022)	criteria provided, single submitter

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