| | LOC129995449, SQSTM1 (Y67C) | Single nucleotide variant (missense variant +1 more) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | |
| | | Single nucleotide variant (missense variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | |
| | | Single nucleotide variant (missense variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 +3 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_deletion) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 +2 more | |
| | | Single nucleotide variant (intron variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 +4 more | |
| | | Single nucleotide variant (missense variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +2 more | |
| | | Deletion (frameshift variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | |
| | | Single nucleotide variant (missense variant) | SQSTM1-related condition +4 more | |
| | | Single nucleotide variant (missense variant) | Paget disease of bone 2, early-onset +4 more | |
| | | Single nucleotide variant (synonymous variant) | Paget disease of bone 3 +7 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +7 more | |
| | | Single nucleotide variant (synonymous variant) | Paget disease of bone 2, early-onset +7 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +5 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +6 more | GConflicting classifications of pathogenicity |