| | | Copy number gain | See cases | |
| | LOC115995524, LOC115995525 +2647 more | Copy number gain | See cases | |
| | LOC129937605, LOC129937606 +484 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129937518, LOC129937519 +248 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Duplication | Charcot-Marie-Tooth disease type 2B | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Deletion (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Microsatellite (inframe_insertion +2 more) | not provided | |
| | ACAD9, CFAP92 (I400T +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | ACAD9, CFAP92 (R532W +1 more) | Single nucleotide variant (missense variant +2 more) | Mitochondrial complex I deficiency +2 more | GPathogenic/Likely pathogenic |
| | ACAD9, CFAP92 (V410fs +1 more) | Deletion (frameshift variant +2 more) | Acyl-CoA dehydrogenase 9 deficiency | |
| | ACAD9, CFAP92 (R532Q +1 more) | Single nucleotide variant (missense variant +2 more) | Acyl-CoA dehydrogenase 9 deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | ACAD9, CFAP92 (A411V +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | ACAD9, CFAP92 (Y418C +1 more) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (3 prime UTR variant +1 more) | not provided | |
| | | Duplication (inframe_insertion +2 more) | not provided | |
| | ACAD9, CFAP92 (T544M +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | ACAD9, CFAP92 (A545G +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | ACAD9, CFAP92 (V423M +1 more) | Single nucleotide variant (missense variant +2 more) | Acyl-CoA dehydrogenase 9 deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | ACAD9, CFAP92 (I554fs +1 more) | Duplication (frameshift variant +2 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | ACAD9, CFAP92 (S548L +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | ACAD9, CFAP92 (R549Q +1 more) | Single nucleotide variant (missense variant +2 more) | Acyl-CoA dehydrogenase 9 deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Acyl-CoA dehydrogenase 9 deficiency +2 more | GConflicting classifications of pathogenicity |
| | CFAP92, ACAD9 (S428T +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | ACAD9, CFAP92 (R552C +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | ACAD9, CFAP92 (I554fs +1 more) | Deletion (frameshift variant +2 more) | not provided | |
| | ACAD9, CFAP92 (R555G +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | ACAD9, CFAP92 (R555C +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | ACAD9, CFAP92 (R432L +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | ACAD9, CFAP92 (R555H +1 more) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | 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) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Deletion (3 prime UTR variant +1 more) | Mitochondrial complex I deficiency +2 more | |
| | | Indel (splice donor variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | ACAD9, CFAP92 (R559C +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | ACAD9, CFAP92 (R559S +1 more) | Single nucleotide variant (missense variant +2 more) | Acyl-CoA dehydrogenase 9 deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +1 more | |
| | ACAD9, CFAP92 (D562N +1 more) | Single nucleotide variant (missense variant +2 more) | not specified +1 more | |
| | ACAD9, CFAP92 (H563Y +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | ACAD9, CFAP92 (H563D +1 more) | Single nucleotide variant (missense variant +2 more) | Acyl-CoA dehydrogenase 9 deficiency | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | ACAD9, CFAP92 (E441K +1 more) | Single nucleotide variant (missense variant +2 more) | Acyl-CoA dehydrogenase 9 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Acyl-CoA dehydrogenase 9 deficiency +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Microsatellite (3 prime UTR variant +1 more) | not provided | |
| | | Microsatellite (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Microsatellite (intron variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |