Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553127216
rs1553127216
ACADM
1.000 0.080 1 75761366 missense variant A/C snv
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 3 2007 2016
dbSNP: rs387906297
rs387906297
ACADM
1.000 0.080 1 75761276 frameshift variant TTAG/- delins
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 3 1992 2010
dbSNP: rs758753966
rs758753966
ACADM
1.000 0.080 1 75761120 splice acceptor variant A/C snv 8.0E-06
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 3 2006 2014
dbSNP: rs760892123
rs760892123
ACADM
1.000 0.080 1 75762744 missense variant T/C snv 2.0E-05 5.6E-05
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 3 2010 2016
dbSNP: rs768884003
rs768884003
ACADM
1.000 0.080 1 75749467 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 3 2010 2016
dbSNP: rs875989859
rs875989859
ACADM
1.000 0.080 1 75733588 missense variant G/A snv 8.0E-06
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.800 1.000 3 1990 2010
dbSNP: rs1057516983
rs1057516983
ACADM
1.000 0.080 1 75733629 splice donor variant G/A;T snv
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 2 2001 2015
dbSNP: rs1057518677
rs1057518677
ACADM
1.000 0.080 1 75733526 splice acceptor variant A/G snv
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 2 2005 2010
dbSNP: rs121434283
rs121434283
ACADM
1.000 0.080 1 75733603 missense variant C/T snv 1.2E-05
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.800 1.000 2 1990 2007
dbSNP: rs1225471006
rs1225471006
ACADM
1.000 0.080 1 75761173 stop gained -/TAGAATGAGTTAC delins 3.2E-05 2.8E-05
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 2 1984 1991
dbSNP: rs1462472677
rs1462472677
ACADM
1.000 0.080 1 75762704 missense variant A/G;T snv 4.0E-06
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 2 2010 2017
dbSNP: rs148207467
rs148207467
ACADM
1.000 0.080 1 75761221 stop gained C/A;T snv 4.0E-06
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 2 1994 2014
dbSNP: rs148260275
rs148260275
ACADM
1.000 0.080 1 75740112 splice donor variant T/C snv 4.0E-06 7.0E-06
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 2 2005 2010
dbSNP: rs1553127172
rs1553127172
ACADM
1.000 0.080 1 75761165 frameshift variant TTGAACTAGCTAGAATGAGTTA/- del
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 2 1994 2010
dbSNP: rs398123075
rs398123075
ACADM
1.000 0.080 1 75732889 missense variant G/A;C;T snv 4.0E-06
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.710 1.000 2 2004 2010
dbSNP: rs753928772
rs753928772
ACADM
1.000 0.080 1 75762754 stop gained C/A;T snv 3.6E-05
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 2 2010 2014
dbSNP: rs765793260
rs765793260
ACADM
1.000 0.080 1 75761116 splice region variant T/G snv 8.0E-05 1.4E-05
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 2 2011 2012
dbSNP: rs769331400
rs769331400
ACADM
1.000 0.080 1 75761371 splice donor variant G/A snv 8.0E-06 7.0E-06
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 2 2012 2014
dbSNP: rs1057516278
rs1057516278
ACADM
1.000 0.080 1 75761289 frameshift variant -/G delins
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 1 2012 2012
dbSNP: rs1057516801
rs1057516801
ACADM
1.000 0.080 1 75732742 splice donor variant G/T snv
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 1 2012 2012
dbSNP: rs1057517103
rs1057517103
ACADM
1.000 0.080 1 75761131 frameshift variant AT/- delins
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 1 1997 1997
dbSNP: rs1348176225
rs1348176225
ACADM
1.000 0.080 1 75749427 missense variant C/A;G snv
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 1 2014 2014
dbSNP: rs748110745
rs748110745
ACADM
1.000 0.080 1 75761326 stop gained G/T snv 8.0E-06 7.0E-06
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 1 1994 1994
dbSNP: rs757434857
rs757434857
ACADM
1.000 0.080 1 75732659 missense variant A/G snv 1.6E-05
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 1 2016 2016
dbSNP: rs761317029
rs761317029
ACADM
1.000 0.080 1 75750449 splice acceptor variant A/G snv 8.2E-06
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 1 2005 2005