| | | 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 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +5 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +5 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (inframe_deletion +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified +4 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | 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 (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 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +4 more | |
| | | Duplication (intron variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +5 more | |
| | | Single nucleotide variant (intron variant) | not specified +4 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +5 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +5 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +2 more | GPathogenic/Likely pathogenic |
| | | 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) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified +4 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | 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 (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Amyotrophic Lateral Sclerosis, Dominant +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Fanconi anemia complementation group G +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | Inclusion Body Myopathy, Dominant +5 more | |
| | | Copy number gain | See cases | |