ClinVar Miner

List of variants reported as pathogenic for Medium-chain acyl-coenzyme A dehydrogenase deficiency by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
Download table as spreadsheet
HGVS dbSNP
NM_000016.5(ACADM):c.-6_6delinsACCCCGAAGG (p.Met1fs) rs875989865
NM_000016.5(ACADM):c.1012C>T (p.Gln338Ter) rs796051896
NM_000016.5(ACADM):c.1012_1013insTAGAATGAGTTAC (p.Gln338delinsLeuGluTer) rs875989874
NM_000016.5(ACADM):c.1102_1105del (p.Ala369fs) rs387906297
NM_000016.5(ACADM):c.1189dup (p.Tyr397fs) rs875989877
NM_000016.5(ACADM):c.1221_1222del (p.Arg408fs) rs875989860
NM_000016.5(ACADM):c.157C>T (p.Arg53Cys) rs398123072
NM_000016.5(ACADM):c.250C>T (p.Leu84Phe) rs762114560
NM_000016.5(ACADM):c.322_325del (p.Ile108fs) rs875989873
NM_000016.5(ACADM):c.347G>A (p.Cys116Tyr) rs875989859
NM_000016.5(ACADM):c.362C>T (p.Thr121Ile) rs121434283
NM_000016.5(ACADM):c.387+1del rs786204424
NM_000016.5(ACADM):c.443G>A (p.Arg148Lys) rs778906552
NM_000016.5(ACADM):c.449_452del (p.Thr150fs) rs786204642
NM_000016.5(ACADM):c.464T>C (p.Met155Thr) rs875989876
NM_000016.5(ACADM):c.469-1G>A rs875989869
NM_000016.5(ACADM):c.583G>A (p.Gly195Arg) rs121434278
NM_000016.5(ACADM):c.609A>C (p.Leu203Phe) rs751829413
NM_000016.5(ACADM):c.742A>G (p.Arg248Gly) rs875989867
NM_000016.5(ACADM):c.797A>G (p.Asp266Gly) rs201375579
NM_000016.5(ACADM):c.799G>A (p.Gly267Arg) rs121434274
NM_000016.5(ACADM):c.817_829del (p.Ala273fs) rs875989872
NM_000016.5(ACADM):c.881G>C (p.Arg294Thr) rs779759347
NM_000016.5(ACADM):c.926dup (p.Gly310fs) rs875989864
NM_000016.5(ACADM):c.928G>A (p.Gly310Arg) rs747268471
NM_000016.5(ACADM):c.984del (p.Met328fs) rs747610156
NM_000016.5(ACADM):c.985A>C (p.Lys329Gln) rs77931234
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280
NM_000016.6(ACADM):c.216+2T>C rs398123073
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_001286042.1(ACADM):c.10+3660_10+3666dup rs875989875
NM_001286044.1(ACADM):c.-100+1907del rs777998984

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.