| | LOC130001752, LOC130001753 +1005 more | Copy number gain | See cases | |
| | LOC130001539, LOC130001540 +3785 more | Copy number gain | See cases | |
| | LOC130001810, LOC130001811 +1213 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC113839508, LOC113839509 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC113839555, LOC113839556 +1119 more | Copy number gain | See cases | |
| | LOC130001667, LOC130001668 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001585, LOC130001586 +882 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC116186942, LOC116186943 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001472, LOC130001473 +983 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001652, LOC130001653 +581 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001648, LOC130001649 +898 more | Copy number gain | See cases | |
| | LOC121366033, LOC121366034 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001569, LOC130001570 +897 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001690, LOC130001691 +585 more | Copy number gain | See cases | |
| | LOC130001818, LOC130001819 +690 more | Copy number gain | See cases | |
| | LOC126860615, LOC126860616 +435 more | Copy number gain | See cases | |
| | LOC130001735, LOC130001736 +503 more | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +1 more | |
| | | Deletion (3 prime UTR variant +1 more) | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Coenzyme Q10 deficiency, Oculomotor Apraxia Type +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Coenzyme Q10 deficiency, Oculomotor Apraxia Type +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Coenzyme Q10 deficiency, Oculomotor Apraxia Type +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +1 more | |
| | | Deletion | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Deletion (non-coding transcript variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Indel (frameshift variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (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 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Coenzyme Q10 deficiency, Oculomotor Apraxia Type +1 more | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | |
| | | Single nucleotide variant (missense variant +1 more) | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | |
| | | Deletion (frameshift variant +1 more) | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | |
| | | Single nucleotide variant (nonsense +1 more) | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous 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 (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (intron variant) | not provided | |
| | | Duplication (intron variant) | Coenzyme Q10 deficiency, Oculomotor Apraxia Type +4 more | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |