| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Acyl-CoA dehydrogenase 9 deficiency +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ACAD9, LOC126806807 (L300R +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ACAD9, LOC126806807 (V311M) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Acyl-CoA dehydrogenase 9 deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Acyl-CoA dehydrogenase 9 deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Inborn genetic diseases +1 more | |
| | ACAD9, CFAP92 (A411V +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | ACAD9, CFAP92 (I554fs +1 more) | Duplication (frameshift variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | ACAD9, CFAP92 (S548L +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | ACAD9, CFAP92 (I556V +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | ACAD9, CFAP92 (I556T +1 more) | Single nucleotide variant (missense variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (intron variant) | Inborn genetic diseases | |
| | ACAD9, CFAP92 (N569S +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | ACAD9, CFAP92 (V573M +1 more) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | ACAD9, CFAP92 (L471P +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | ACAD9, CFAP92 (R486Q +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
| | ACAD9, CFAP92 (P616S +1 more) | Single nucleotide variant (missense variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |