ClinVar Miner

Variants with conflicting interpretations studied for Medium-chain acyl-coenzyme A dehydrogenase deficiency

Coded as:
Minimum review status of the submission for Medium-chain acyl-coenzyme A dehydrogenase deficiency: Collection method of the submission for Medium-chain acyl-coenzyme A dehydrogenase deficiency:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
552 82 0 115 12 0 39 152

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Medium-chain acyl-coenzyme A dehydrogenase deficiency pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 104 25 0 0
likely pathogenic 104 0 27 0 0
uncertain significance 25 27 0 12 1
likely benign 0 0 12 0 11
benign 0 0 1 11 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
Medium-chain acyl-coenzyme A dehydrogenase deficiency 552 82 0 115 12 0 39 152

All variants with conflicting interpretations #

Total variants: 152
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000016.6(ACADM):c.-362T>C rs1251076 0.12826
NM_000016.6(ACADM):c.-401G>A rs114005461 0.04873
NM_000016.6(ACADM):c.-142C>G rs61124994 0.04520
NM_000016.6(ACADM):c.*77C>T rs143911981 0.00652
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_000016.6(ACADM):c.469-9A>G rs181322317 0.00223
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys) rs147559466 0.00210
NM_000016.6(ACADM):c.468+71T>C rs571856182 0.00198
NM_000016.6(ACADM):c.678A>G (p.Ala226=) rs2229249 0.00108
NM_000016.6(ACADM):c.994C>T (p.Leu332=) rs138098371 0.00093
NM_000016.6(ACADM):c.645T>A (p.Ala215=) rs147395095 0.00079
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280 0.00073
NM_000016.6(ACADM):c.600-18G>A rs370523609 0.00051
NM_000016.6(ACADM):c.666C>A (p.Phe222Leu) rs139457557 0.00051
NM_000016.6(ACADM):c.468+62C>T rs875989870 0.00019
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly) rs201375579 0.00017
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) rs121434274 0.00013
NM_000016.6(ACADM):c.210T>G (p.Thr70=) rs778891510 0.00010
NM_000016.6(ACADM):c.250C>T (p.Leu84Phe) rs762114560 0.00007
NM_000016.6(ACADM):c.583G>A (p.Gly195Arg) rs121434278 0.00007
NM_000016.6(ACADM):c.1247T>C (p.Ile416Thr) rs760892123 0.00006
NM_000016.6(ACADM):c.582C>T (p.Asn194=) rs778535261 0.00006
NM_000016.6(ACADM):c.1118T>C (p.Val373Ala) rs373057729 0.00004
NM_000016.6(ACADM):c.1189T>A (p.Tyr397Asn) rs759158371 0.00004
NM_000016.6(ACADM):c.287-10G>C rs368875210 0.00004
NM_000016.6(ACADM):c.388-3T>G rs764942250 0.00004
NM_000016.6(ACADM):c.388-5G>A rs759254037 0.00004
NM_000016.6(ACADM):c.50G>A (p.Arg17His) rs17848070 0.00004
NM_000016.6(ACADM):c.57T>C (p.His19=) rs762984318 0.00004
NM_000016.6(ACADM):c.1045C>T (p.Arg349Ter) rs148207467 0.00003
NM_000016.6(ACADM):c.118+18T>A rs755405418 0.00003
NM_000016.6(ACADM):c.157C>T (p.Arg53Cys) rs398123072 0.00003
NM_000016.6(ACADM):c.216+5G>T rs528788578 0.00003
NM_000016.6(ACADM):c.407C>T (p.Ala136Val) rs750792245 0.00003
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys) rs778906552 0.00003
NM_000016.6(ACADM):c.558T>A (p.Asn186Lys) rs754359356 0.00003
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg) rs747268471 0.00003
NM_000016.6(ACADM):c.134A>G (p.Gln45Arg) rs757434857 0.00002
NM_000016.6(ACADM):c.158G>A (p.Arg53His) rs754938068 0.00002
NM_000016.6(ACADM):c.238A>G (p.Arg80Gly) rs758476299 0.00002
NM_000016.6(ACADM):c.276A>G (p.Pro92=) rs1212443202 0.00002
NM_000016.6(ACADM):c.580A>G (p.Asn194Asp) rs773677327 0.00002
NM_000016.6(ACADM):c.601del (p.Tyr201fs) rs772650083 0.00002
NM_000016.6(ACADM):c.617G>A (p.Arg206His) rs200724875 0.00002
NM_000016.6(ACADM):c.653C>G (p.Ala218Gly) rs764268346 0.00002
NM_000016.6(ACADM):c.668T>C (p.Ile223Thr) rs758111285 0.00002
NM_000016.6(ACADM):c.709-13A>G rs746483754 0.00002
NM_000016.6(ACADM):c.757G>A (p.Glu253Lys) rs768884003 0.00002
NM_000016.6(ACADM):c.927C>T (p.Phe309=) rs771550655 0.00002
NM_000016.6(ACADM):c.984del (p.Met328fs) rs747610156 0.00002
NM_000016.6(ACADM):c.1042C>T (p.Arg348Cys) rs1648832587 0.00001
NM_000016.6(ACADM):c.1052C>T (p.Thr351Ile) rs766140986 0.00001
NM_000016.6(ACADM):c.1115C>A (p.Ala372Asp) rs781424858 0.00001
NM_000016.6(ACADM):c.1124T>C (p.Ile375Thr) rs121434275 0.00001
NM_000016.6(ACADM):c.1150G>T (p.Glu384Ter) rs748110745 0.00001
NM_000016.6(ACADM):c.1237C>T (p.Arg413Cys) rs139686925 0.00001
NM_000016.6(ACADM):c.1238G>A (p.Arg413His) rs1337929727 0.00001
NM_000016.6(ACADM):c.1257C>A (p.Tyr419Ter) rs753928772 0.00001
NM_000016.6(ACADM):c.253G>T (p.Gly85Cys) rs398123075 0.00001
NM_000016.6(ACADM):c.30+2T>C rs768596219 0.00001
NM_000016.6(ACADM):c.320T>C (p.Leu107Ser) rs746136472 0.00001
NM_000016.6(ACADM):c.347G>A (p.Cys116Tyr) rs875989859 0.00001
NM_000016.6(ACADM):c.362C>T (p.Thr121Ile) rs121434283 0.00001
NM_000016.6(ACADM):c.395C>G (p.Pro132Arg) rs875989854 0.00001
NM_000016.6(ACADM):c.447G>A (p.Met149Ile) rs121434277 0.00001
NM_000016.6(ACADM):c.447G>T (p.Met149Ile) rs121434277 0.00001
NM_000016.6(ACADM):c.464T>C (p.Met155Thr) rs875989876 0.00001
NM_000016.6(ACADM):c.503A>C (p.Asp168Ala) rs745844469 0.00001
NM_000016.6(ACADM):c.599+1G>A rs866388216 0.00001
NM_000016.6(ACADM):c.599+2T>C rs148260275 0.00001
NM_000016.6(ACADM):c.599+5G>A rs875989861 0.00001
NM_000016.6(ACADM):c.609A>C (p.Leu203Phe) rs751829413 0.00001
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys) rs373715782 0.00001
NM_000016.6(ACADM):c.661G>A (p.Gly221Arg) rs753627680 0.00001
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr) rs770273135 0.00001
NM_000016.6(ACADM):c.709-1G>A rs941714381 0.00001
NM_000016.6(ACADM):c.717C>G (p.Asn239Lys) rs1348176225 0.00001
NM_000016.6(ACADM):c.728G>A (p.Arg243Gln) rs373852490 0.00001
NM_000016.6(ACADM):c.734C>T (p.Ser245Leu) rs121434281 0.00001
NM_000016.6(ACADM):c.849+2T>C rs780737237 0.00001
NM_000016.6(ACADM):c.850-2A>G rs761317029 0.00001
NM_000016.6(ACADM):c.92G>A (p.Arg31His) rs529894272 0.00001
NM_000016.5(ACADM):c.-257G>A rs17848068
NM_000016.6(ACADM):c.-6_6delinsACCCCGAGTG (p.Met1fs) rs875989865
NM_000016.6(ACADM):c.1010A>C (p.Tyr337Ser) rs1323513432
NM_000016.6(ACADM):c.1034A>T (p.Asp345Val) rs771978135
NM_000016.6(ACADM):c.1040G>T (p.Gly347Val)
NM_000016.6(ACADM):c.1046G>T (p.Arg349Leu) rs760335676
NM_000016.6(ACADM):c.107_113dup (p.Ser38delinsArgIleTer) rs875989875
NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs) rs387906297
NM_000016.6(ACADM):c.1114dup (p.Ala372fs) rs1057516278
NM_000016.6(ACADM):c.118+114A>G rs875989868
NM_000016.6(ACADM):c.1184A>G (p.Lys395Arg) rs776312173
NM_000016.6(ACADM):c.1207A>G (p.Thr403Ala) rs1462472677
NM_000016.6(ACADM):c.1229T>C (p.Ile410Thr) rs1361089796
NM_000016.6(ACADM):c.165del (p.Phe55fs) rs1319192670
NM_000016.6(ACADM):c.1A>G (p.Met1Val) rs1057516778
NM_000016.6(ACADM):c.201T>A (p.Tyr67Ter) rs754833969
NM_000016.6(ACADM):c.217-1G>A rs1570861829
NM_000016.6(ACADM):c.217-2A>G rs1647169738
NM_000016.6(ACADM):c.224del (p.Val75fs) rs1057516480
NM_000016.6(ACADM):c.241G>A (p.Ala81Thr) rs1448376709
NM_000016.6(ACADM):c.24C>A (p.Cys8Ter) rs2100332723
NM_000016.6(ACADM):c.260T>C (p.Met87Thr) rs767649048
NM_000016.6(ACADM):c.287-2A>G rs1057518677
NM_000016.6(ACADM):c.30+1G>C
NM_000016.6(ACADM):c.306_307insG (p.Phe103fs) rs2100365750
NM_000016.6(ACADM):c.346T>G (p.Cys116Gly) rs875989863
NM_000016.6(ACADM):c.353G>C (p.Gly118Ala) rs1647188699
NM_000016.6(ACADM):c.383dup (p.Leu128fs) rs1647189225
NM_000016.6(ACADM):c.387+1del rs786204424
NM_000016.6(ACADM):c.388-19T>A rs1553123252
NM_000016.6(ACADM):c.397ATT[2] (p.Ile135del) rs1570866192
NM_000016.6(ACADM):c.3G>C (p.Met1Ile) rs1553121887
NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del) rs875989857
NM_000016.6(ACADM):c.437del (p.Leu146fs) rs749529577
NM_000016.6(ACADM):c.449_452del (p.Thr150fs) rs786204642
NM_000016.6(ACADM):c.461T>G (p.Leu154Trp) rs1553123263
NM_000016.6(ACADM):c.472T>C (p.Tyr158His) rs1570876467
NM_000016.6(ACADM):c.473A>G (p.Tyr158Cys) rs1553123858
NM_000016.6(ACADM):c.47del (p.Ser16fs) rs1325949559
NM_000016.6(ACADM):c.494C>T (p.Ala165Val) rs1260394550
NM_000016.6(ACADM):c.526G>A (p.Ala176Thr) rs200754053
NM_000016.6(ACADM):c.526G>T (p.Ala176Ser) rs200754053
NM_000016.6(ACADM):c.536_568del (p.Lys179_Lys189del) rs1553123869
NM_000016.6(ACADM):c.542A>G (p.Asp181Gly) rs1553123872
NM_000016.6(ACADM):c.554T>C (p.Ile185Thr) rs1647480996
NM_000016.6(ACADM):c.577A>G (p.Thr193Ala) rs121434279
NM_000016.6(ACADM):c.592G>A (p.Ala198Thr) rs1647485086
NM_000016.6(ACADM):c.599G>A (p.Trp200Ter)
NM_000016.6(ACADM):c.600G>A (p.Trp200Ter)
NM_000016.6(ACADM):c.613G>C (p.Ala205Pro) rs1324329442
NM_000016.6(ACADM):c.617G>T (p.Arg206Leu) rs200724875
NM_000016.6(ACADM):c.622G>T (p.Asp208Tyr) rs983879715
NM_000016.6(ACADM):c.624T>C (p.Asp208=) rs886046523
NM_000016.6(ACADM):c.67C>T (p.Gln23Ter) rs1570851702
NM_000016.6(ACADM):c.683C>A (p.Thr228Asn) rs149678400
NM_000016.6(ACADM):c.709-2A>C rs1553125211
NM_000016.6(ACADM):c.755T>G (p.Phe252Cys) rs780510026
NM_000016.6(ACADM):c.778_782del (p.Glu260fs) rs2100417619
NM_000016.6(ACADM):c.817_829del (p.Ala273fs) rs875989872
NM_000016.6(ACADM):c.843A>T (p.Arg281Ser) rs780504551
NM_000016.6(ACADM):c.866T>C (p.Val289Ala) rs1057520215
NM_000016.6(ACADM):c.881G>C (p.Arg294Thr) rs779759347
NM_000016.6(ACADM):c.91C>T (p.Arg31Cys)
NM_000016.6(ACADM):c.926dup (p.Gly310fs) rs875989864
NM_000016.6(ACADM):c.946-6T>G rs765793260
NM_000016.6(ACADM):c.957_958del (p.Ser320fs) rs1057517103
NM_000016.6(ACADM):c.959C>A (p.Ser320Ter) rs1057516485
NM_000016.6(ACADM):c.977T>C (p.Met326Thr) rs786204631
NM_000016.6(ACADM):c.982A>G (p.Met328Val) rs1648825926
NM_000016.6(ACADM):c.999_1011dup (p.Gln338Ter) rs1225471006

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