ClinVar for MedGen (Select 65086) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25780261.	NM_000016.6(ACADM):c.652G>A (p.Ala218Thr) GRCh37: Chr1:76211543 GRCh38: Chr1:75745858	ACADM	A182T, A218T, A222T, A251T, A29T	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely pathogenic (Sep 5, 2023)	criteria provided, single submitter
Select item 25039032.	NM_000016.6(ACADM):c.[351A>C;362C>T] GRCh37: Chr1:76199288 Chr1:76199277 GRCh38: Chr1:75733603 Chr1:75733592	ACADM, ACADM	T121I, T125I, T154I, T85I	not specified	Uncertain significance (Apr 10, 2023)	criteria provided, single submitter
Select item 24393363.	NM_000016.6(ACADM):c.1194+2T>G GRCh37: Chr1:76227057 GRCh38: Chr1:75761372	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely pathogenic (Nov 3, 2022)	criteria provided, single submitter
Select item 24388064.	NM_000016.6(ACADM):c.806G>A (p.Gly269Asp) GRCh37: Chr1:76215201 GRCh38: Chr1:75749516	ACADM	G233D, G269D, G273D, G302D, G80D	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 24388055.	NM_000016.6(ACADM):c.719T>C (p.Met240Thr) GRCh37: Chr1:76215114 GRCh38: Chr1:75749429	ACADM	M204T, M240T, M244T, M273T, M51T	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (Dec 27, 2019)	criteria provided, single submitter
Select item 24388046.	NM_000016.6(ACADM):c.813A>C (p.Lys271Asn) GRCh37: Chr1:76215208 GRCh38: Chr1:75749523	ACADM	K235N, K271N, K275N, K304N, K82N	ACADM-related condition, Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (Dec 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 24221337.	NC_000001.10:g.(?_76198435)_(76205598_?)del GRCh37: Chr1:76198435-76205598	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Pathogenic (Aug 21, 2022)	criteria provided, single submitter
Select item 24221328.	NC_000001.10:g.(?_76205645)_(76228448_?)dup GRCh37: Chr1:76205645-76228448	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (Sep 20, 2022)	criteria provided, single submitter
Select item 24221319.	NC_000001.10:g.(?_76190473)_(76228448_?)dup GRCh37: Chr1:76190473-76228448	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 242213010.	NC_000001.10:g.(?_76228367)_(76228458_?)del GRCh37: Chr1:76228367-76228458	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Pathogenic (Aug 23, 2022)	criteria provided, single submitter
Select item 242071211.	NM_000016.6(ACADM):c.136_158dup (p.Phe55fs) GRCh37: Chr1:76198344-76198345 GRCh38: Chr1:75732659-75732660	ACADM	F19fs, F55fs, F59fs	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Pathogenic (Dec 25, 2021)	criteria provided, single submitter
Select item 242068212.	NM_000016.6(ACADM):c.443G>T (p.Arg148Ile) GRCh37: Chr1:76200531 GRCh38: Chr1:75734846	ACADM	R112I, R148I, R152I, R181I	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Pathogenic (Apr 16, 2022)	criteria provided, single submitter
Select item 241585913.	NM_000016.6(ACADM):c.1211C>T (p.Ser404Leu) GRCh37: Chr1:76228393 GRCh38: Chr1:75762708	ACADM	S215L, S368L, S404L, S408L, S437L	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 220277414.	NM_000016.6(ACADM):c.493G>A (p.Ala165Thr) GRCh37: Chr1:76205689 GRCh38: Chr1:75740004	ACADM	A129T, A169T, A165T, A198T	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely pathogenic (May 12, 2022)	criteria provided, single submitter
Select item 220277315.	NM_000016.6(ACADM):c.475del (p.Cys159fs) GRCh37: Chr1:76205670 GRCh38: Chr1:75739985	ACADM	C123fs, C159fs, C163fs, C192fs	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Pathogenic (Jan 11, 2022)	criteria provided, single submitter
Select item 220277116.	NM_000016.6(ACADM):c.119-12A>G GRCh37: Chr1:76198317 GRCh38: Chr1:75732632	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (Jan 17, 2020)	criteria provided, single submitter
Select item 220223617.	NM_000016.6(ACADM):c.286+6C>T GRCh37: Chr1:76198613 GRCh38: Chr1:75732928	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 220139818.	NM_000016.6(ACADM):c.1194+23del GRCh37: Chr1:76227072 GRCh38: Chr1:75761387	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Benign (Aug 19, 2022)	criteria provided, single submitter
Select item 219747519.	NM_000016.6(ACADM):c.10G>A (p.Gly4Arg) GRCh37: Chr1:76190482 GRCh38: Chr1:75724797	ACADM	G4R	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 219006820.	NM_000016.6(ACADM):c.*5delA GRCh37: Chr1:76228447 GRCh38: Chr1:75762762	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 218907921.	NM_000016.6(ACADM):c.1128T>C (p.Leu376=) GRCh37: Chr1:76226989 GRCh38: Chr1:75761304	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 218450722.	NM_000016.6(ACADM):c.983T>C (p.Met328Thr) GRCh37: Chr1:76226844 GRCh38: Chr1:75761159	ACADM	M292T, M328T, M332T, M139T, M361T	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely pathogenic (Jul 18, 2022)	criteria provided, single submitter
Select item 218175623.	NM_000016.6(ACADM):c.653C>A (p.Ala218Asp) GRCh37: Chr1:76211544 GRCh38: Chr1:75745859	ACADM	A29D, A218D, A251D, A182D, A222D	not provided, not specified, Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (Sep 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 218042024.	NM_000016.6(ACADM):c.1205G>A (p.Gly402Asp) GRCh37: Chr1:76228387 GRCh38: Chr1:75762702	ACADM	G213D, G366D, G402D, G435D, G406D	not specified, Medium-chain acyl-coenzyme A dehydrogenase deficiency	Conflicting interpretations of pathogenicity (Jul 19, 2023)	criteria provided, conflicting interpretations
Select item 216664425.	NM_000016.6(ACADM):c.11G>T (p.Gly4Val) GRCh37: Chr1:76190483 GRCh38: Chr1:75724798	ACADM	G4V	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 216289126.	NM_000016.6(ACADM):c.775A>G (p.Lys259Glu) GRCh37: Chr1:76215170 GRCh38: Chr1:75749485	ACADM	K223E, K259E, K263E, K292E, K70E	Inborn genetic diseases, Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215915327.	NM_000016.6(ACADM):c.1066A>G (p.Ile356Val) GRCh37: Chr1:76226927 GRCh38: Chr1:75761242	ACADM	I167V, I320V, I360V, I389V, I356V	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely pathogenic (Jun 17, 2022)	criteria provided, single submitter
Select item 215637028.	NM_000016.6(ACADM):c.946-20T>G GRCh37: Chr1:76226787 GRCh38: Chr1:75761102	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 215454129.	NM_000016.6(ACADM):c.849+11T>A GRCh37: Chr1:76215255 GRCh38: Chr1:75749570	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 215304530.	NM_000016.6(ACADM):c.1195-14T>C GRCh37: Chr1:76228363 GRCh38: Chr1:75762678	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 215004431.	NM_000016.6(ACADM):c.91C>T (p.Arg31Cys) GRCh37: Chr1:76194146 GRCh38: Chr1:75728461	ACADM	R35C, R31C	Inborn genetic diseases, Medium-chain acyl-coenzyme A dehydrogenase deficiency	Conflicting interpretations of pathogenicity (Jul 12, 2023)	criteria provided, conflicting interpretations
Select item 214945932.	NM_000016.6(ACADM):c.1043G>A (p.Arg348His) GRCh37: Chr1:76226904 GRCh38: Chr1:75761219	ACADM	R159H, R352H, R348H, R312H, R381H	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (May 14, 2022)	criteria provided, single submitter
Select item 214928133.	NM_000016.6(ACADM):c.31-12T>G GRCh37: Chr1:76194074 GRCh38: Chr1:75728389	ACADM	C11G	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 214723534.	NM_000016.6(ACADM):c.1253A>G (p.Lys418Arg) GRCh37: Chr1:76228435 GRCh38: Chr1:75762750	ACADM	K422R, K451R, K382R, K418R, K229R	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 214340335.	NM_000016.6(ACADM):c.532A>C (p.Lys178Gln) GRCh37: Chr1:76205728 GRCh38: Chr1:75740043	ACADM	K211Q, K178Q, K182Q, K142Q	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 214062736.	NM_000016.6(ACADM):c.12G>A (p.Gly4=) GRCh37: Chr1:76190484 GRCh38: Chr1:75724799	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 213969737.	NM_000016.6(ACADM):c.31-12T>C GRCh37: Chr1:76194074 GRCh38: Chr1:75728389	ACADM	C11R	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 213349538.	NM_000016.6(ACADM):c.893_898del (p.Glu298_Thr300delinsAla) GRCh37: Chr1:76216179-76216184 GRCh38: Chr1:75750494-75750499	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 213349339.	NM_000016.6(ACADM):c.891T>A (p.Asp297Glu) GRCh37: Chr1:76216177 GRCh38: Chr1:75750492	ACADM	D108E, D297E, D301E, D261E, D330E	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 213265940.	NM_000016.6(ACADM):c.31-5T>A GRCh37: Chr1:76194081 GRCh38: Chr1:75728396	ACADM	L13*	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 212866941.	NM_000016.6(ACADM):c.546G>A (p.Glu182=) GRCh37: Chr1:76205742 GRCh38: Chr1:75740057	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 211718142.	NM_000016.6(ACADM):c.1226_1227del (p.Leu409fs) GRCh37: Chr1:76228408-76228409 GRCh38: Chr1:75762723-75762724	ACADM	L220fs, L373fs, L413fs, L442fs, L409fs	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Pathogenic (Mar 26, 2022)	criteria provided, single submitter
Select item 211457743.	NM_000016.6(ACADM):c.120G>C (p.Glu40Asp) GRCh37: Chr1:76198330 GRCh38: Chr1:75732645	ACADM	E4D, E40D, E44D	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 211423944.	NM_000016.6(ACADM):c.98C>G (p.Pro33Arg) GRCh37: Chr1:76194153 GRCh38: Chr1:75728468	ACADM	P37R, P33R	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 211405445.	NM_000016.6(ACADM):c.1189_1192del (p.Tyr397fs) GRCh37: Chr1:76227047-76227050 GRCh38: Chr1:75761362-75761365	ACADM	Y208fs, Y361fs, Y430fs, Y401fs, Y397fs	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Pathogenic (Mar 18, 2022)	criteria provided, single submitter
Select item 211246746.	NM_000016.6(ACADM):c.584G>A (p.Gly195Glu) GRCh37: Chr1:76205780 GRCh38: Chr1:75740095	ACADM	G159E, G195E, G199E, G6E, G228E	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 211215447.	NM_000016.6(ACADM):c.863_865dup (p.Ala288_Val289insAla) GRCh37: Chr1:76216146-76216147 GRCh38: Chr1:75750461-75750462	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 211195348.	NM_000016.6(ACADM):c.881_882delinsTT (p.Arg294Ile) GRCh37: Chr1:76216167-76216168 GRCh38: Chr1:75750482-75750483	ACADM	R258I, R294I, R298I, R327I, R105I	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 211090849.	NM_000016.6(ACADM):c.783T>C (p.Asn261=) GRCh37: Chr1:76215178 GRCh38: Chr1:75749493	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 210647650.	NM_000016.6(ACADM):c.509C>A (p.Ala170Asp) GRCh37: Chr1:76205705 GRCh38: Chr1:75740020	ACADM	A134D, A203D, A170D, A174D	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 210238151.	NM_000016.6(ACADM):c.709-7T>C GRCh37: Chr1:76215097 GRCh38: Chr1:75749412	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 209823652.	NM_000016.6(ACADM):c.599+19C>T GRCh37: Chr1:76205814 GRCh38: Chr1:75740129	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 209577453.	NM_000016.6(ACADM):c.1248T>C (p.Ile416=) GRCh37: Chr1:76228430 GRCh38: Chr1:75762745	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely benign (Mar 21, 2022)	criteria provided, single submitter
Select item 209335954.	NM_000016.6(ACADM):c.1117G>C (p.Val373Leu) GRCh37: Chr1:76226978 GRCh38: Chr1:75761293	ACADM	V184L, V406L, V373L, V337L, V377L	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 209113155.	NM_000016.6(ACADM):c.118+10C>A GRCh37: Chr1:76194183 GRCh38: Chr1:75728498	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely pathogenic (Mar 28, 2022)	criteria provided, single submitter
Select item 208982456.	NM_000016.6(ACADM):c.1194+6G>A GRCh37: Chr1:76227061 GRCh38: Chr1:75761376	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 207738957.	NM_000016.6(ACADM):c.1071A>G (p.Ala357=) GRCh37: Chr1:76226932 GRCh38: Chr1:75761247	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely benign (Jan 7, 2022)	criteria provided, single submitter
Select item 206977758.	NM_000016.6(ACADM):c.31-17A>G GRCh37: Chr1:76194069 GRCh38: Chr1:75728384	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely benign (Jan 17, 2022)	criteria provided, single submitter
Select item 206731259.	NM_000016.6(ACADM):c.643G>C (p.Ala215Pro) GRCh37: Chr1:76211534 GRCh38: Chr1:75745849	ACADM	A248P, A179P, A215P, A219P, A26P	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 206640160.	NM_000016.6(ACADM):c.751G>A (p.Val251Ile) GRCh37: Chr1:76215146 GRCh38: Chr1:75749461	ACADM	V251I, V255I, V215I, V284I, V62I	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 205992861.	NM_000016.6(ACADM):c.820A>G (p.Met274Val) GRCh37: Chr1:76215215 GRCh38: Chr1:75749530	ACADM	M238V, M274V, M307V, M85V, M278V	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely pathogenic (Sep 10, 2022)	criteria provided, single submitter
Select item 205912562.	NM_000016.6(ACADM):c.366T>A (p.Ala122=) GRCh37: Chr1:76199292 GRCh38: Chr1:75733607	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 205035863.	NM_000016.6(ACADM):c.703A>T (p.Arg235Ter) GRCh37: Chr1:76211594 GRCh38: Chr1:75745909	ACADM	R235, R199, R268, R239, R46*	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Pathogenic (Oct 7, 2022)	criteria provided, single submitter
Select item 204280364.	NM_000016.6(ACADM):c.823_824dup (p.Ala276fs) GRCh37: Chr1:76215216-76215217 GRCh38: Chr1:75749531-75749532	ACADM	A240fs, A87fs, A280fs, A309fs, A276fs	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Pathogenic (Dec 14, 2021)	criteria provided, single submitter
Select item 204115865.	NM_000016.6(ACADM):c.395C>A (p.Pro132His) GRCh37: Chr1:76200483 GRCh38: Chr1:75734798	ACADM	P132H, P136H, P96H, P165H	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely pathogenic (Dec 12, 2021)	criteria provided, single submitter
Select item 203779666.	NM_000016.6(ACADM):c.1197T>G (p.Ile399Met) GRCh37: Chr1:76228379 GRCh38: Chr1:75762694	ACADM	I432M, I399M, I210M, I363M, I403M	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (Dec 8, 2021)	criteria provided, single submitter
Select item 203648867.	NM_000016.6(ACADM):c.639T>C (p.Ala213=) GRCh37: Chr1:76211530 GRCh38: Chr1:75745845	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely benign (Dec 7, 2021)	criteria provided, single submitter
Select item 203607968.	NM_000016.6(ACADM):c.270C>T (p.His90=) GRCh37: Chr1:76198591 GRCh38: Chr1:75732906	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 203328369.	NM_000016.6(ACADM):c.600-9A>G GRCh37: Chr1:76211482 GRCh38: Chr1:75745797	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 202702270.	NM_000016.6(ACADM):c.455A>G (p.Glu152Gly) GRCh37: Chr1:76200543 GRCh38: Chr1:75734858	ACADM	E185G, E116G, E152G, E156G	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 202626171.	NM_000016.6(ACADM):c.876A>G (p.Ala292=) GRCh37: Chr1:76216162 GRCh38: Chr1:75750477	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 202360772.	NM_000016.6(ACADM):c.65C>A (p.Ser22Ter) GRCh37: Chr1:76194120 GRCh38: Chr1:75728435	ACADM	S22, S26	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Pathogenic (Aug 12, 2022)	criteria provided, single submitter
Select item 202159473.	NM_000016.6(ACADM):c.600-8T>C GRCh37: Chr1:76211483 GRCh38: Chr1:75745798	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 202151374.	NM_000016.6(ACADM):c.835A>T (p.Lys279Ter) GRCh37: Chr1:76215230 GRCh38: Chr1:75749545	ACADM	K279, K312, K90, K243, K283*	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Pathogenic (Aug 4, 2022)	criteria provided, single submitter
Select item 201911875.	NM_000016.6(ACADM):c.168C>T (p.Ala56=) GRCh37: Chr1:76198378 GRCh38: Chr1:75732693	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 201788276.	NM_000016.6(ACADM):c.291T>C (p.Gly97=) GRCh37: Chr1:76199217 GRCh38: Chr1:75733532	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 201080877.	NM_000016.6(ACADM):c.135G>C (p.Gln45His) GRCh37: Chr1:76198345 GRCh38: Chr1:75732660	ACADM	Q45H, Q9H, Q49H	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely pathogenic (Aug 9, 2022)	criteria provided, single submitter
Select item 200560878.	NM_000016.6(ACADM):c.936A>G (p.Leu312=) GRCh37: Chr1:76216222 GRCh38: Chr1:75750537	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 200493179.	NM_000016.6(ACADM):c.859G>C (p.Gly287Arg) GRCh37: Chr1:76216145 GRCh38: Chr1:75750460	ACADM	G320R, G98R, G287R, G291R, G251R	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely pathogenic (Sep 29, 2022)	criteria provided, single submitter
Select item 200227380.	NM_000016.6(ACADM):c.1054_1057dup (p.Tyr353fs) GRCh37: Chr1:76226914-76226915 GRCh38: Chr1:75761229-75761230	ACADM	Y164fs, Y317fs, Y357fs, Y386fs, Y353fs	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Pathogenic (Jun 3, 2022)	criteria provided, single submitter
Select item 200199881.	NM_000016.6(ACADM):c.380C>A (p.Ser127Tyr) GRCh37: Chr1:76199306 GRCh38: Chr1:75733621	ACADM	S131Y, S91Y, S127Y, S160Y	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 199903082.	NM_000016.6(ACADM):c.17G>A (p.Gly6Glu) GRCh37: Chr1:76190489 GRCh38: Chr1:75724804	ACADM	G6E	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 199789783.	NM_000016.6(ACADM):c.799G>T (p.Gly267Ter) GRCh37: Chr1:76215194 GRCh38: Chr1:75749509	ACADM	G231, G78, G267, G271, G300*	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Pathogenic (May 29, 2022)	criteria provided, single submitter
Select item 199728184.	NM_000016.6(ACADM):c.1236C>G (p.Ala412=) GRCh37: Chr1:76228418 GRCh38: Chr1:75762733	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 199602685.	NM_000016.6(ACADM):c.839C>G (p.Thr280Ser) GRCh37: Chr1:76215234 GRCh38: Chr1:75749549	ACADM	T280S, T284S, T244S, T313S, T91S	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 199598286.	NM_000016.6(ACADM):c.225C>T (p.Val75=) GRCh37: Chr1:76198546 GRCh38: Chr1:75732861	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 199340987.	NM_000016.6(ACADM):c.725A>G (p.Gln242Arg) GRCh37: Chr1:76215120 GRCh38: Chr1:75749435	ACADM	Q206R, Q242R, Q275R, Q246R, Q53R	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 199262088.	NM_000016.6(ACADM):c.706A>T (p.Lys236Ter) GRCh37: Chr1:76211597 GRCh38: Chr1:75745912	ACADM	K240, K200, K47, K236, K269*	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Pathogenic (Jun 7, 2022)	criteria provided, single submitter
Select item 199148789.	NM_000016.6(ACADM):c.849+13G>T GRCh37: Chr1:76215257 GRCh38: Chr1:75749572	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 198896090.	NM_000016.6(ACADM):c.1195-8dup GRCh37: Chr1:76228364-76228365 GRCh38: Chr1:75762679-75762680	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Benign (Apr 21, 2022)	criteria provided, single submitter
Select item 198840591.	NM_000016.6(ACADM):c.598T>C (p.Trp200Arg) GRCh37: Chr1:76205794 GRCh38: Chr1:75740109	ACADM	W204R, W164R, W11R, W200R, W233R	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 198582192.	NM_000016.6(ACADM):c.659C>G (p.Thr220Ser) GRCh37: Chr1:76211550 GRCh38: Chr1:75745865	ACADM	T220S, T31S, T184S, T224S, T253S	Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely pathogenic (Jan 19, 2022)	criteria provided, single submitter
Select item 198478193.	NM_000016.6(ACADM):c.118+17A>G GRCh37: Chr1:76194190 GRCh38: Chr1:75728505	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely benign (Aug 14, 2022)	criteria provided, single submitter
Select item 198059694.	NM_000016.6(ACADM):c.30+1G>C GRCh37: Chr1:76190503 GRCh38: Chr1:75724818	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Pathogenic (Jan 21, 2022)	criteria provided, single submitter
Select item 197337595.	NM_000016.6(ACADM):c.30+8G>C GRCh37: Chr1:76190510 GRCh38: Chr1:75724825	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 196644496.	NM_000016.6(ACADM):c.468+11G>A GRCh37: Chr1:76200567 GRCh38: Chr1:75734882	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 195877697.	NM_000016.6(ACADM):c.469-8T>C GRCh37: Chr1:76205657 GRCh38: Chr1:75739972	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 195797698.	NM_000016.6(ACADM):c.31-20A>C GRCh37: Chr1:76194066 GRCh38: Chr1:75728381	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely benign (Oct 12, 2022)	criteria provided, single submitter
Select item 195759199.	NM_000016.6(ACADM):c.477T>C (p.Cys159=) GRCh37: Chr1:76205673 GRCh38: Chr1:75739988	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely benign (Mar 31, 2022)	criteria provided, single submitter
Select item 1948848100.	NM_000016.6(ACADM):c.1221A>G (p.Gln407=) GRCh37: Chr1:76228403 GRCh38: Chr1:75762718	ACADM		Medium-chain acyl-coenzyme A dehydrogenase deficiency	Likely benign (Sep 19, 2022)	criteria provided, single submitter

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