| | LOC125467786, LOC125467787 +1203 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | Charcot-Marie-Tooth disease X-linked recessive 4 +8 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | RAB33A, AIFM1 (A549V +2 more) | Single nucleotide variant (missense variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Severe X-linked mitochondrial encephalomyopathy +4 more | |
| | RAB33A, AIFM1 (P548S +2 more) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | AIFM1, RAB33A (S207G +2 more) | Single nucleotide variant (missense variant +2 more) | Combined oxidative phosphorylation deficiency +2 more | |
| | AIFM1, RAB33A (E533K +2 more) | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth Neuropathy X +4 more | |
| | AIFM1, RAB33A (E192V +2 more) | Single nucleotide variant (missense variant +2 more) | AIFM1-related condition +3 more | |
| | AIFM1, RAB33A (G525E +2 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | RAB33A, AIFM1 (D515N +2 more) | Single nucleotide variant (missense variant +2 more) | Combined oxidative phosphorylation deficiency +4 more | |
| | AIFM1, RAB33A (T173A +2 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +3 more | |
| | AIFM1, RAB33A (L163F +2 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | RAB33A, AIFM1 (S501C +2 more) | Single nucleotide variant (missense variant +2 more) | Combined oxidative phosphorylation deficiency +2 more | |
| | AIFM1, RAB33A (D160Y +2 more) | Single nucleotide variant (missense variant +2 more) | Combined oxidative phosphorylation deficiency +2 more | |
| | AIFM1, RAB33A (I491V +2 more) | Single nucleotide variant (missense variant +2 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Inborn genetic diseases +3 more | |
| | AIFM1, RAB33A (D150N +2 more) | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth Neuropathy X +4 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Charcot-Marie-Tooth Neuropathy X +2 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | AIFM1, RAB33A (Q140E +2 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | AIFM1-related condition +6 more | |
| | AIFM1, RAB33A (R459I +2 more) | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth Neuropathy X +3 more | GConflicting classifications of pathogenicity |
| | AIFM1, RAB33A (R451Q +2 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | RAB33A, AIFM1 (G109E +2 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | AIFM1-related condition +7 more | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | AIFM1, RAB33A (R422W +2 more) | Single nucleotide variant (missense variant +2 more) | AIFM1-related condition +5 more | GPathogenic/Likely pathogenic |
| | AIFM1, RAB33A (I410V +2 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | Inborn genetic diseases +7 more | |
| | AIFM1, RAB33A (N399I +2 more) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | RAB33A, AIFM1 (P402T +2 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | RAB33A, AIFM1 (V395G +2 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | AIFM1, RAB33A (V391L +2 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | RAB33A, AIFM1 (T387A +2 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | AIFM1, RAB33A (G382S +2 more) | Single nucleotide variant (missense variant +2 more) | Combined oxidative phosphorylation deficiency +3 more | |
| | AIFM1, RAB33A (V374I +2 more) | Single nucleotide variant (missense variant +2 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Charcot-Marie-Tooth Neuropathy X +3 more | |
| | AIFM1, RAB33A (M364V +2 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | AIFM1, RAB33A (V24L +2 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | AIFM1, RAB33A (V361I +2 more) | Single nucleotide variant (missense variant +2 more) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X +2 more | |
| | AIFM1, RAB33A (E15A +2 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | Charcot-Marie-Tooth Neuropathy X +6 more | |
| | AIFM1, RAB33A (E346K +2 more) | Single nucleotide variant (missense variant +2 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | AIFM1, RAB33A (L344F +2 more) | Single nucleotide variant (missense variant +2 more) | Charcot-Marie-Tooth Neuropathy X +2 more | GConflicting classifications of pathogenicity |
| | AIFM1, RAB33A (I339M +2 more) | Single nucleotide variant (missense variant +2 more) | Combined oxidative phosphorylation deficiency +2 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, RAB33A (E336K +1 more) | Single nucleotide variant (5 prime UTR variant +3 more) | Charcot-Marie-Tooth Neuropathy X +3 more | GConflicting classifications of pathogenicity |
| | AIFM1, RAB33A (F330Y +1 more) | Single nucleotide variant (5 prime UTR variant +3 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Combined oxidative phosphorylation deficiency +5 more | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined oxidative phosphorylation deficiency +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined oxidative phosphorylation deficiency +5 more | |
| | AIFM1, RAB33A (T300S +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | RAB33A, AIFM1 (R294Q +1 more) | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth Neuropathy X +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | AIFM1, RAB33A (I266V +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | AIFM1, RAB33A (P260A +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | AIFM1, RAB33A (D237V +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X +2 more | |
| | AIFM1, RAB33A (V221M +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | AIFM1, RAB33A (D216N +1 more) | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation deficiency +2 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth Neuropathy X +8 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | AIFM1, LOC126863317 +1 more | Single nucleotide variant (intron variant) | not provided | |
| | AIFM1, RAB33A (R201K +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | AIFM1, RAB33A (F193S +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | AIFM1, RAB33A (P165L +1 more) | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth Neuropathy X +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |