| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | AIFM1, RAB33A (G407A +2 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | AIFM1, RAB33A (R426H +2 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | AIFM1, RAB33A (K179T +2 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Duplication | Charcot-Marie-Tooth Neuropathy X +1 more | |
| | MIR1468, MIR1587 +2598 more | Copy number gain | Klinefelter syndrome | |
| | | Copy number loss | See cases | |
| | SLITRK2, SLITRK4 +221 more | Copy number loss | not provided | |
| | AIFM1, RAB33A (A439T +2 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | AIFM1, RAB33A (P149L +2 more) | Single nucleotide variant (missense variant +2 more) | Auditory neuropathy spectrum disorder | |
| | AIFM1, RAB33A (V229I +1 more) | Single nucleotide variant (missense variant +1 more) | Auditory neuropathy spectrum disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | AIFM1-related disorder | |
| | AIFM1, LOC130068679 +1 more | Single nucleotide variant (5 prime UTR variant +1 more) | AIFM1-related disorder | |
| | | Single nucleotide variant (intron variant) | AIFM1-related disorder | |
| | AIFM1, RAB33A (M246T +2 more) | Single nucleotide variant (missense variant +2 more) | AIFM1-related disorder | |
| | | Single nucleotide variant (intron variant) | AIFM1-related disorder | |
| | AIFM1, LOC130068679 +1 more | Single nucleotide variant (5 prime UTR variant +1 more) | AIFM1-related disorder | |
| | AIFM1, RAB33A (S163C +1 more) | Single nucleotide variant (missense variant +1 more) | AIFM1-related disorder | |
| | AIFM1, LOC130068679 +1 more (A11G) | Single nucleotide variant (missense variant +1 more) | AIFM1-related disorder | |
| | | Copy number gain | not provided | |
| | | 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) | Charcot-Marie-Tooth Neuropathy X +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 | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | AIFM1, RAB33A (A126V +2 more) | Single nucleotide variant (missense variant +2 more) | Auditory neuropathy | |
| | AIFM1, RAB33A (K297I +1 more) | Single nucleotide variant (missense variant +1 more) | Auditory neuropathy | |
| | AIFM1, RAB33A (T131S +2 more) | Single nucleotide variant (missense variant +2 more) | Auditory neuropathy | |
| | AIFM1, RAB33A (A133V +2 more) | Single nucleotide variant (missense variant +2 more) | Auditory neuropathy | |
| | AIFM1, LOC130068679 +1 more (F2Y) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | AIFM1, RAB33A (R149Q +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | AIFM1, RAB33A (G218R +2 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | AIFM1-related disorder +2 more | |
| | | Single nucleotide variant (intron variant) | Severe X-linked mitochondrial encephalomyopathy | |