List of variants reported as likely pathogenic for Medium-chain acyl-coenzyme A dehydrogenase deficiency by Counsyl

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Total variants: 53

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HGVS	dbSNP
NM_000016.5(ACADM):c.1045C>T (p.Arg349Ter)	rs148207467
NM_000016.5(ACADM):c.1045del (p.Arg349fs)	rs1057516463
NM_000016.5(ACADM):c.1073del (p.Lys358fs)	rs1057517411
NM_000016.5(ACADM):c.1114dup (p.Ala372fs)	rs1057516278
NM_000016.5(ACADM):c.1150G>T (p.Glu384Ter)	rs748110745
NM_000016.5(ACADM):c.118+1G>T	rs113887538
NM_000016.5(ACADM):c.1195-1G>C	rs1553127378
NM_000016.5(ACADM):c.1195-2A>T	rs879234543
NM_000016.5(ACADM):c.1207A>G (p.Thr403Ala)	rs1462472677
NM_000016.5(ACADM):c.1257C>A (p.Tyr419Ter)	rs753928772
NM_000016.5(ACADM):c.157C>T (p.Arg53Cys)	rs398123072
NM_000016.5(ACADM):c.1A>G (p.Met1Val)	rs1057516778
NM_000016.5(ACADM):c.216+1G>T	rs1057516801
NM_000016.5(ACADM):c.250C>T (p.Leu84Phe)	rs762114560
NM_000016.5(ACADM):c.286+2T>G	rs1553122996
NM_000016.5(ACADM):c.30+2T>C	rs768596219
NM_000016.5(ACADM):c.320T>C (p.Leu107Ser)	rs746136472
NM_000016.5(ACADM):c.347G>A (p.Cys116Tyr)	rs875989859
NM_000016.5(ACADM):c.387+1G>T	rs1057516983
NM_000016.5(ACADM):c.387+1del	rs786204424
NM_000016.5(ACADM):c.3G>C (p.Met1Ile)	rs1553121887
NM_000016.5(ACADM):c.443G>A (p.Arg148Lys)	rs778906552
NM_000016.5(ACADM):c.469-2A>C	rs1553123857
NM_000016.5(ACADM):c.580A>G (p.Asn194Asp)	rs773677327
NM_000016.5(ACADM):c.583G>A (p.Gly195Arg)	rs121434278
NM_000016.5(ACADM):c.599+1G>A	rs866388216
NM_000016.5(ACADM):c.599+2T>C	rs148260275
NM_000016.5(ACADM):c.616C>T (p.Arg206Cys)	rs373715782
NM_000016.5(ACADM):c.617G>A (p.Arg206His)	rs200724875
NM_000016.5(ACADM):c.617G>T (p.Arg206Leu)	rs200724875
NM_000016.5(ACADM):c.698T>C (p.Ile233Thr)	rs770273135
NM_000016.5(ACADM):c.708+2T>G	rs1553124805
NM_000016.5(ACADM):c.709-1G>A	rs941714381
NM_000016.5(ACADM):c.709-2A>C	rs1553125211
NM_000016.5(ACADM):c.734C>T (p.Ser245Leu)	rs121434281
NM_000016.5(ACADM):c.757G>A (p.Glu253Lys)	rs768884003
NM_000016.5(ACADM):c.817_829del (p.Ala273fs)	rs875989872
NM_000016.5(ACADM):c.826_828delinsCC (p.Ala276fs)	rs1553125264
NM_000016.5(ACADM):c.843A>T (p.Arg281Ser)	rs780504551
NM_000016.5(ACADM):c.850-2A>G	rs761317029
NM_000016.5(ACADM):c.926dup (p.Gly310fs)	rs875989864
NM_000016.5(ACADM):c.949C>T (p.Gln317Ter)	rs1057516564
NM_000016.5(ACADM):c.955_956AT[1] (p.Ser320fs)	rs1057517103
NM_000016.5(ACADM):c.959C>A (p.Ser320Ter)	rs1057516485
NM_000016.5(ACADM):c.977T>C (p.Met326Thr)	rs786204631
NM_000016.5(ACADM):c.984del (p.Met328fs)	rs747610156
NM_000016.5(ACADM):c.999_1011dup (p.Gln338Ter)	rs1225471006
NM_001286042.1(ACADM):c.10+3660_10+3666dup	rs875989875
NM_001286044.1(ACADM):c.-100+1905AAG[2]	rs875989857
NM_001286044.1(ACADM):c.-100+1918del	rs749529577
NM_001286044.1(ACADM):c.-122_-121CA[3]	rs766173642
NM_001286044.1(ACADM):c.-162del	rs1057516480
NM_001286044.1(ACADM):c.-217_-216AG[2]	rs1057517179

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