| | | 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) | 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) | Neurodegeneration, childhood-onset, with cerebellar atrophy | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (synonymous variant) | AGTPBP1-related disorder | |
| | AGTPBP1, LOC130001960 (A19del) | Microsatellite (inframe deletion +1 more) | AGTPBP1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | AGTPBP1-related disorder | |
| | | Single nucleotide variant (missense variant) | AGTPBP1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | AGTPBP1-related disorder | |
| | | Single nucleotide variant (intron variant) | AGTPBP1-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | AGTPBP1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | AGTPBP1-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | AGTPBP1-related disorder | |
| | | Single nucleotide variant (intron variant) | AGTPBP1-related disorder | |
| | | Single nucleotide variant (splice acceptor variant) | Neurodegeneration, childhood-onset, with cerebellar atrophy | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration, childhood-onset, with cerebellar atrophy | |
| | | Single nucleotide variant (intron variant +1 more) | Neurodegeneration, childhood-onset, with cerebellar atrophy | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | 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 (splice donor variant) | Neurodegeneration, childhood-onset, with cerebellar atrophy | |
| | | 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) | Inborn genetic diseases | |
| | | Insertion (inframe_insertion) | 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) | 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 | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Distal tetrasomy 15q | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (nonsense) | Neurodegeneration, childhood-onset, with cerebellar atrophy | |
| | AGTPBP1, LOC130001960 (A6T) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | AGTPBP1, LOC130001960 (A45V) | Indel (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | AGTPBP1-related disorder +1 more | |
| | AGTPBP1, LOC130001960 (R53fs) | Deletion (frameshift variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Neurodegeneration, childhood-onset, with cerebellar atrophy | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration, childhood-onset, with cerebellar atrophy | |
| | | Single nucleotide variant (nonsense) | Neurodegeneration, childhood-onset, with cerebellar atrophy | |
| | AGTPBP1, LOC130001960 (S9fs) | Duplication (frameshift variant) | not provided | |
| | | Deletion (frameshift variant) | Neurodegeneration, childhood-onset, with cerebellar atrophy | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration, childhood-onset, with cerebellar atrophy | |
| | | Single nucleotide variant (nonsense) | Neurodegeneration, childhood-onset, with cerebellar atrophy | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | |
| | | Inversion | Recurrent spontaneous abortion +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (nonsense) | Global developmental delay +1 more | |