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: 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: rs121434277
rs121434277
ACADM
1.000 0.080 1 75734850 missense variant G/A;T 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 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: rs121434282
rs121434282
ACADM
1.000 0.080 1 75749552 missense variant G/C snv 4.0E-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: 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
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
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: rs1553123857
rs1553123857
ACADM
1.000 0.080 1 75739978 splice acceptor variant A/C snv
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 0
dbSNP: rs1553124805
rs1553124805
ACADM ; DLSTP1
1.000 0.080 1 75745916 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: rs1553125211
rs1553125211
ACADM
1.000 0.080 1 75749417 splice acceptor variant A/C snv
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 0
dbSNP: rs1553125264
rs1553125264
ACADM
1.000 0.080 1 75749536 frameshift variant GCT/CC delins
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 0
dbSNP: rs1553127378
rs1553127378
ACADM
1.000 0.080 1 75762691 splice acceptor variant G/C snv
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 0
dbSNP: rs1557446524
rs1557446524
ACADM
1.000 0.080 1 75734857 stop gained G/T snv
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 0