| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +2 more | |
| | | Single nucleotide variant (missense variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +2 more | |
| | | Single nucleotide variant (missense variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +3 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +5 more | |
| | | Single nucleotide variant (synonymous variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +3 more | |
| | | Single nucleotide variant (synonymous variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +4 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +5 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +3 more | |
| | | Single nucleotide variant (synonymous variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +2 more | |
| | | Single nucleotide variant (missense variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +5 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases | |