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: 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: 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
dbSNP: rs1057516463
rs1057516463
ACADM
1.000 0.080 1 75761221 frameshift variant C/- del
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 0
dbSNP: rs1057516480
rs1057516480
ACADM
1.000 0.080 1 75732860 frameshift variant T/- del
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 0
dbSNP: rs1057516485
rs1057516485
ACADM
1.000 0.080 1 75761135 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 0
dbSNP: rs1057516564
rs1057516564
ACADM
1.000 0.080 1 75761125 stop gained C/T snv
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 0
dbSNP: rs1057516778
rs1057516778
ACADM ; SLC44A5
1.000 0.080 1 75724788 start lost A/G snv
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 0
dbSNP: rs1057517179
rs1057517179
ACADM
1.000 0.080 1 75732694 frameshift variant AG/- delins
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 0
dbSNP: rs1057517411
rs1057517411
ACADM
1.000 0.080 1 75761247 frameshift variant A/- delins
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 0
dbSNP: rs113887538
rs113887538
ACADM
1.000 0.080 1 75728489 splice donor variant G/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 0
dbSNP: rs1319192670
rs1319192670
ACADM
1.000 0.080 1 75732688 frameshift variant T/- delins 7.0E-06
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 0
dbSNP: rs1325949559
rs1325949559
ACADM
1.000 0.080 1 75728417 frameshift variant C/- del
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 0
dbSNP: rs149678400
rs149678400
ACADM ; DLSTP1
1.000 0.080 1 75745889 missense variant C/A;T snv 2.9E-04; 4.0E-06
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 0
dbSNP: rs1553121887
rs1553121887
ACADM ; SLC44A5
1.000 0.080 1 75724790 start lost G/C snv
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 0