| | LOC130063041, LOC130063042 +687 more | Copy number gain | See cases | |
| | LOC130062978, LOC130062979 +903 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130063254, LOC130063255 +810 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC121852974, LOC125371451 +193 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant | Cayman type cerebellar ataxia +1 more | |
| | | Single nucleotide variant | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (5 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (5 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (5 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (5 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (intron variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (intron variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Cayman type cerebellar ataxia +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Cayman type cerebellar ataxia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (synonymous variant) | ATCAY-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (synonymous variant) | Cayman type cerebellar ataxia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cayman type cerebellar ataxia +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (intron variant) | Cayman type cerebellar ataxia | |
| | | Duplication (intron variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (intron variant) | Cayman type cerebellar ataxia +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (synonymous variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Cayman type cerebellar ataxia +1 more | |
| | | Single nucleotide variant (intron variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (intron variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (intron variant) | Cayman type cerebellar ataxia | |
| | | 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) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Cayman type cerebellar ataxia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Cayman type cerebellar ataxia +1 more | |
| | | Single nucleotide variant (intron variant) | Cayman type cerebellar ataxia +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |