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Gene Mutations
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| Records Return:
(6)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| ACADVL | 609575 | 201475 | 17p13.1 | 1118T>C; I373T | | VLCAD DEFICIENCY | 1 |
| ACADVL | 609575 | 201475 | 17p13.1 | 1258A>C | | VLCAD DEFICIENCY | 1 |
| ACADVL | 609575 | 201475 | 17p13.1 | 1358G>A; R453Q | | VLCAD DEFICIENCY | 1 |
| ACADVL | 609575 | 201475 | 17p13.1 | 364A>G | | VLCAD DEFICIENCY | 1 |
| ACADVL | 609575 | 201475 | 17p13.1 | c.848T>C (p.Val283Ala) | | VLCAD DEFICIENCY | 1 |
| ACADVL | 609575 | 201475 | 17p13.1 | IVS11DS, G-A, +1 | 0002 | ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD | 1 |
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