| | LOC130001537, LOC130001538 +3785 more | Copy number gain | See cases | |
| | LOC130002976, LOC130002977 +3784 more | Copy number gain | See cases | |
| | LOC130001468, LOC130001469 +3785 more | Copy number gain | See cases | |
| | DNAJB5, DNAJB5-DT +3785 more | Copy number gain | See cases | |
| | LOC114827838, LOC116186936 +3785 more | Copy number gain | See cases | |
| | LOC124252641, LOC124252642 +3785 more | Copy number gain | See cases | |
| | LINC03026, LINC03041 +1366 more | Copy number gain | See cases | |
| | LOC114022701, LOC114022702 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110120726, LOC110120727 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | AGTPBP1, LOC126860661 +7 more | Copy number gain | See cases | Gconflicting data from submitters |
| | AGTPBP1, LOC126860661 +7 more | Copy number gain | See cases | |
| | AGTPBP1, LOC126860661 +7 more | Copy number gain | See cases | |
| | AGTPBP1, C9orf153 +31 more | Copy number loss | See cases | |
| | AGTPBP1, LOC126860663 +3 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +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 | |