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: rs875989865
rs875989865
ACADM ; SLC44A5
1.000 0.080 1 75724782 start lost GCCAACATGGCA/ACCCCGAAGG delins
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: 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
dbSNP: rs768596219
rs768596219
ACADM ; SLC44A5
1.000 0.080 1 75724819 splice donor variant T/C;G snv 6.0E-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: rs875989875
rs875989875
ACADM
1.000 0.080 1 75728472 stop gained -/GATTTAG 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: 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: rs398123072
rs398123072
ACADM
1.000 0.080 1 75732682 missense variant C/G;T snv 3.2E-05
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 8 1993 2016
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: 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: rs121434280
rs121434280
ACADM
1.000 0.080 1 75732724 missense variant T/C snv 5.0E-04 7.1E-04
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.800 1.000 18 1990 2016
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: 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: rs398123074
rs398123074
ACADM
1.000 0.080 1 75732869 missense variant T/C snv 2.4E-05 2.1E-05
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 0
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: rs762114560
rs762114560
ACADM
1.000 0.080 1 75732886 missense variant C/T snv 7.2E-05 7.0E-05
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 5 2006 2012
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: rs766173642
rs766173642
ACADM
1.000 0.080 1 75732899 frameshift variant CA/-;CACA delins 4.0E-06
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 0
dbSNP: rs1553122996
rs1553122996
ACADM
1.000 0.080 1 75732924 splice donor variant T/G snv
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 0
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: rs875989873
rs875989873
ACADM
1.000 0.080 1 75733560 frameshift variant ATTA/- delins
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 0
dbSNP: rs746136472
rs746136472
ACADM
1.000 0.080 1 75733561 missense variant T/C snv 1.2E-05 7.0E-06
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 1.000 4 2004 2010
dbSNP: rs864621963
rs864621963
ACADM
1.000 0.080 1 75733583 inframe deletion GGATGT/- delins
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 0
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