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: rs754359356
rs754359356
ACADM
1.000 0.080 1 75740069 missense variant T/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 0
dbSNP: rs764942250
rs764942250
ACADM
1.000 0.080 1 75734788 splice region variant T/G snv 4.0E-05
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 0
dbSNP: rs766140986
rs766140986
ACADM
1.000 0.080 1 75761228 missense variant C/T 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 0
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: 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: rs777998984
rs777998984
ACADM
1.000 0.080 1 75734829 frameshift variant G/- del 1.6E-05 2.8E-05
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 0
dbSNP: rs779759347
rs779759347
ACADM
1.000 0.080 1 75750482 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 		0.700 0
dbSNP: rs796051896
rs796051896
ACADM
1.000 0.080 1 75761188 stop gained C/G;T snv
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 0
dbSNP: rs796051901
rs796051901
ACADM
1.000 0.080 1 75750481 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: 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: rs866388216
rs866388216
ACADM
1.000 0.080 1 75740111 splice donor variant G/A 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 0
dbSNP: rs875989854
rs875989854
ACADM
0.925 0.160 1 75734798 missense variant C/G;T snv 8.0E-06
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 0
dbSNP: rs875989860
rs875989860
ACADM
1.000 0.080 1 75762717 frameshift variant AA/- delins 1.4E-05
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 0
dbSNP: rs875989864
rs875989864
ACADM
1.000 0.080 1 75750524 frameshift variant -/T delins 4.0E-06; 4.0E-06
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 0
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: rs875989867
rs875989867
ACADM
1.000 0.080 1 75749452 missense variant A/G snv
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 0
dbSNP: rs875989869
rs875989869
ACADM
1.000 0.080 1 75739979 splice acceptor variant G/A snv
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 0
dbSNP: rs875989872
rs875989872
ACADM
1.000 0.080 1 75749525 frameshift variant GCAATGGGAGCTT/- delins
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 0
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: rs875989874
rs875989874
ACADM
1.000 0.080 1 75761187 stop gained -/TAGAATGAGTTAC delins
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: rs875989876
rs875989876
ACADM
1.000 0.080 1 75734867 missense variant T/C snv 1.4E-05
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 0
dbSNP: rs875989877
rs875989877
ACADM
1.000 0.080 1 75761364 frameshift variant -/T delins
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 0
dbSNP: rs879234543
rs879234543
ACADM
1.000 0.080 1 75762690 splice acceptor variant A/C;T snv
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 0
dbSNP: rs886042087
rs886042087
ACADM
1.000 0.080 1 75734825 frameshift variant AAA/-;AA delins 2.1E-05
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.700 0