| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | AGTPBP1-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | AGTPBP1-related disorder | |
| | | 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 (synonymous variant) | AGTPBP1-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration, childhood-onset, with cerebellar atrophy | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration, childhood-onset, with cerebellar atrophy | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration, childhood-onset, with cerebellar atrophy | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration, childhood-onset, with cerebellar atrophy | |
| | | Single nucleotide variant (nonsense) | Global developmental delay +1 more | |
| | | Single nucleotide variant (nonsense) | Neurodegeneration, childhood-onset, with cerebellar atrophy | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration, childhood-onset, with cerebellar atrophy | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration, childhood-onset, with cerebellar atrophy | |
| | | Deletion (nonsense) | AGTPBP1-related disorder | |
| | | Insertion (inframe_insertion) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Neurodegeneration, childhood-onset, with cerebellar atrophy | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration, childhood-onset, with cerebellar atrophy | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Neurodegeneration, childhood-onset, with cerebellar atrophy | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration, childhood-onset, with cerebellar atrophy | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice acceptor variant) | AGTPBP1-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +1 more | |
| | | Single nucleotide variant (intron variant) | AGTPBP1-related disorder | |
| | | Single nucleotide variant (splice donor variant) | Motor polyneuropathy +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration, childhood-onset, with cerebellar atrophy | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice acceptor variant) | Neurodegeneration, childhood-onset, with cerebellar atrophy | |
| | | Single nucleotide variant (synonymous variant) | AGTPBP1-related disorder | |
| | | 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 (nonsense) | Neurodegeneration, childhood-onset, with cerebellar atrophy | |
| | | 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 (synonymous variant) | AGTPBP1-related disorder | |
| | | Single nucleotide variant (nonsense) | Neurodegeneration, childhood-onset, with cerebellar atrophy | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration, childhood-onset, with cerebellar atrophy | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | AGTPBP1-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | AGTPBP1-related disorder | |
| | | Single nucleotide variant (intron variant +1 more) | Neurodegeneration, childhood-onset, with cerebellar atrophy | |
| | | Deletion (frameshift variant) | Neurodegeneration, childhood-onset, with cerebellar atrophy | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | AGTPBP1-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Neurodegeneration, childhood-onset, with cerebellar atrophy | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | AGTPBP1-related disorder | |
| | | 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 | See cases | |
| | | Copy number gain | not provided | |