| | | 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) | Inborn genetic diseases | |
| | | Deletion | RASopathy | |
| | | Duplication | not provided | |
| | | 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (synonymous variant) | ATCAY-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | 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 | |
| | | 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) | Inborn genetic diseases | |
| | | 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (intron variant) | Cayman type cerebellar ataxia | |
| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (nonsense) | 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 | |
| | | 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) | Inborn genetic diseases | |
| | | 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (intron variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (missense 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) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (synonymous variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (synonymous variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (missense variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Cayman type cerebellar ataxia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Cayman type cerebellar ataxia | |
| | | Single nucleotide variant (3 prime UTR variant) | Cayman type cerebellar ataxia | |