| | LOC130001767, LOC130001768 +1006 more | Copy number gain | See cases | |
| | LOC124210612, LOC124210613 +3786 more | Copy number gain | See cases | |
| | CDKN2B, CDKN2B-AS1 +1214 more | Copy number gain | See cases | |
| | LOC121331326, LOC121331327 +3785 more | Copy number gain | See cases | |
| | LOC126860737, LOC126860738 +3786 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001680, LOC130001681 +1062 more | Copy number gain | See cases | |
| | LOC124210611, LOC124210612 +1120 more | Copy number gain | See cases | |
| | LOC110121197, LOC110121234 +3786 more | Copy number gain | See cases | |
| | LOC121331342, LOC121331343 +3786 more | Copy number gain | See cases | |
| | LOC130001484, LOC130001485 +883 more | Copy number gain | See cases | |
| | LOC130001854, LOC130001855 +1367 more | Copy number gain | See cases | |
| | LOC113839542, LOC113839543 +3786 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001585, LOC130001586 +984 more | Copy number gain | See cases | |
| | LOC130001507, LOC130001508 +899 more | Copy number gain | See cases | |
| | LOC130001746, LOC130001747 +980 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130002189, LOC130002190 +3786 more | Copy number gain | See cases | |
| | SPATA31F3, SPATA31G1 +898 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ALDH1B1, ANKRD18B +360 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Duplication | Anauxetic dysplasia | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (3 prime UTR variant) | Inclusion Body Myopathy, Dominant +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more | |
| | | Deletion (3 prime UTR variant) | Amyotrophic Lateral Sclerosis, Dominant +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more | |
| | | Single nucleotide variant (missense variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more | |
| | | Single nucleotide variant (intron variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more | |
| | | Single nucleotide variant (intron variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more | |
| | | Single nucleotide variant (intron variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more | |
| | | Single nucleotide variant (intron variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more | |
| | | Single nucleotide variant (intron variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more | |
| | | Single nucleotide variant (intron variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more | |
| | | Single nucleotide variant (missense variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more | |
| | | Single nucleotide variant (missense variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (synonymous variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more | |
| | | Single nucleotide variant (missense variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +1 more | |
| | | Single nucleotide variant (missense variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |