| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | AIFM1, LOC130068679 +1 more (R26P) | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation deficiency +1 more | |
| | AIFM1, RAB33A (S207R +2 more) | Single nucleotide variant (missense variant +2 more) | Combined oxidative phosphorylation deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Combined oxidative phosphorylation deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation deficiency +1 more | |
| | AIFM1, LOC130068679 +1 more | Single nucleotide variant (synonymous variant +1 more) | Combined oxidative phosphorylation deficiency +1 more | |
| | AIFM1, RAB33A (E290G +1 more) | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | AIFM1, LOC130068679 +1 more (R33Q) | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | AIFM1, RAB33A (K107R +2 more) | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | AIFM1, RAB33A (V230L +1 more) | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Combined oxidative phosphorylation deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation deficiency +1 more | |
| | AIFM1, RAB33A (G224A +2 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +2 more | |
| | AIFM1, RAB33A (A454G +2 more) | Single nucleotide variant (missense variant +2 more) | Combined oxidative phosphorylation deficiency +1 more | |
| | AIFM1, RAB33A (P129S +1 more) | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | AIFM1, RAB33A (M142V +2 more) | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | AIFM1, RAB33A (E329G +1 more) | Single nucleotide variant (5 prime UTR variant +3 more) | Inborn genetic diseases +2 more | |
| | AIFM1, LOC130068679 +1 more (A11P) | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Combined oxidative phosphorylation deficiency +1 more | |
| | AIFM1, RAB33A (V187I +1 more) | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation deficiency +1 more | |
| | | Insertion (intron variant) | Combined oxidative phosphorylation deficiency +1 more | |
| | | Microsatellite (intron variant) | Combined oxidative phosphorylation deficiency +1 more | |
| | AIFM1, RAB33A (K514R +2 more) | Single nucleotide variant (missense variant +2 more) | Combined oxidative phosphorylation deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation deficiency +1 more | |
| | AIFM1, RAB33A (K86N +1 more) | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation deficiency +1 more | |
| | AIFM1, RAB33A (Y560C +2 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Combined oxidative phosphorylation deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation deficiency +1 more | |
| | AIFM1, RAB33A (G60S +2 more) | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | AIFM1, RAB33A (A516V +2 more) | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | AIFM1, RAB33A (S191L +2 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | AIFM1, RAB33A (T188A +1 more) | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | | Microsatellite (intron variant) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | AIFM1-related condition +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | AIFM1, RAB33A (S371Y +2 more) | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined oxidative phosphorylation deficiency +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Combined oxidative phosphorylation deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation deficiency +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth Neuropathy X +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | AIFM1, RAB33A (T173A +2 more) | Single nucleotide variant (missense variant +2 more) | not provided +3 more | |
| | | Duplication | Combined oxidative phosphorylation deficiency +1 more | |
| | | Duplication | Combined oxidative phosphorylation deficiency +1 more | |
| | | Deletion | Combined oxidative phosphorylation deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | AIFM1, RAB33A (R19Q +2 more) | Single nucleotide variant (missense variant +2 more) | Combined oxidative phosphorylation deficiency +1 more | |
| | AIFM1, RAB33A (L607Q +2 more) | Single nucleotide variant (missense variant +2 more) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined oxidative phosphorylation deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Combined oxidative phosphorylation deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation deficiency +1 more | |
| | AIFM1, RAB33A (V456M +2 more) | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | AIFM1, RAB33A (N237S +1 more) | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation deficiency +1 more | |
| | AIFM1, RAB33A (M1I +2 more) | Single nucleotide variant (missense variant +3 more) | Charcot-Marie-Tooth Neuropathy X +2 more | GConflicting classifications of pathogenicity |
| | AIFM1, LOC130068679 +1 more | Deletion (inframe_deletion +1 more) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | AIFM1, RAB33A (I55T +2 more) | Single nucleotide variant (missense variant +2 more) | Combined oxidative phosphorylation deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | AIFM1, RAB33A (D122N +1 more) | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | AIFM1, LOC130068679 +1 more | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation deficiency +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | AIFM1, RAB33A (R190L +2 more) | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | AIFM1, RAB33A (I216T +1 more) | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | | Deletion (intron variant) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Combined oxidative phosphorylation deficiency +1 more | |