ClinVar Miner

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

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ClinVar version:
Total variants: 69
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HGVS dbSNP
NC_000001.10:g.(?_76211471)_(76211619_?)dup
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.107_113dup (p.Ser38delinsArgIleTer) rs875989875
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.1221_1222del (p.Arg408fs) rs875989860
NM_000016.5(ACADM):c.157C>T (p.Arg53Cys) rs398123072
NM_000016.5(ACADM):c.169_170AG[2] (p.Glu58fs) rs1057517179
NM_000016.5(ACADM):c.199T>C (p.Tyr67His) rs121434280
NM_000016.5(ACADM):c.1A>G (p.Met1Val) rs1057516778
NM_000016.5(ACADM):c.216+1G>T rs1057516801
NM_000016.5(ACADM):c.224del (p.Val75fs) rs1057516480
NM_000016.5(ACADM):c.244dup (p.Trp82fs) rs786204566
NM_000016.5(ACADM):c.250C>T (p.Leu84Phe) rs762114560
NM_000016.5(ACADM):c.264_265CA[3] (p.Ile91fs) rs766173642
NM_000016.5(ACADM):c.286+2T>G rs1553122996
NM_000016.5(ACADM):c.287-2A>G rs1057518677
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+1delG rs786204424
NM_000016.5(ACADM):c.388-3T>G rs764942250
NM_000016.5(ACADM):c.395C>G (p.Pro132Arg) rs875989854
NM_000016.5(ACADM):c.3G>C (p.Met1Ile) rs1553121887
NM_000016.5(ACADM):c.424_426AAG[2] (p.Lys144del) rs875989857
NM_000016.5(ACADM):c.437del (p.Leu146fs) rs749529577
NM_000016.5(ACADM):c.443G>A (p.Arg148Lys) rs778906552
NM_000016.5(ACADM):c.449_452del (p.Thr150fs) rs786204642
NM_000016.5(ACADM):c.454G>T (p.Glu152Ter) rs1557446524
NM_000016.5(ACADM):c.469-2A>C rs1553123857
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.599+5G>A rs875989861
NM_000016.5(ACADM):c.600-18G>A rs370523609
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.683C>A (p.Thr228Asn) rs149678400
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.717C>G (p.Asn239Lys) rs1348176225
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.797A>G (p.Asp266Gly) rs201375579
NM_000016.5(ACADM):c.799G>A (p.Gly267Arg) rs121434274
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.881G>C (p.Arg294Thr) rs779759347
NM_000016.5(ACADM):c.913G>T (p.Glu305Ter) rs1215335509
NM_000016.5(ACADM):c.926dup (p.Gly310fs) rs875989864
NM_000016.5(ACADM):c.928G>A (p.Gly310Arg) rs747268471
NM_000016.5(ACADM):c.949C>T (p.Gln317Ter) rs1057516564
NM_000016.5(ACADM):c.950A>T (p.Gln317Leu) rs1557466604
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

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