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: rs786204566
rs786204566
ACADM
1.000 0.080 1 75732879 frameshift variant -/T delins
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 7 2001 2012
dbSNP: rs1057517356
rs1057517356
ACADM
1.000 0.080 1 75734833 frameshift variant AGTA/- delins
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 6 2004 2017
dbSNP: rs786204424
rs786204424
ACADM
1.000 0.080 1 75733625 splice donor variant G/- delins
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 5 2005 2012
dbSNP: rs786204631
rs786204631
ACADM
1.000 0.080 1 75761153 missense variant T/C snv
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.800 1.000 5 1990 2012
dbSNP: rs875989857
rs875989857
ACADM
1.000 0.080 1 75734827 inframe deletion AAG/- delins
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 5 2010 2017
dbSNP: rs786204642
rs786204642
ACADM
1.000 0.080 1 75734849 frameshift variant CTGA/- delins
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 4 2005 2015
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: 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: 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: 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: 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: 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: rs121434275
rs121434275
ACADM
1.000 0.080 1 75761300 missense variant T/C snv 7.0E-06
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.800 1.000 0 1990 2001
dbSNP: rs121434276
rs121434276
ACADM
1.000 0.080 1 75749440 missense variant T/C snv
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.800 1.000 0 1990 2001
dbSNP: rs121434279
rs121434279
ACADM
1.000 0.080 1 75740088 missense variant A/G snv
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.800 1.000 0 1990 2001
dbSNP: rs1215335509
rs1215335509
ACADM
1.000 0.080 1 75750514 stop gained G/A;T snv
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.710 1.000 0 2001 2001