| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | LOC129995449, SQSTM1 (R68C) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | MRNIP, SQSTM1 (A227T +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Duplication | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (intron variant) | SQSTM1-related disorder | |
| | | Insertion (frameshift variant) | SQSTM1-related disorder | |
| | | Single nucleotide variant (intron variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (intron variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (synonymous variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (missense variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more | |
| | | Duplication (frameshift variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more | |
| | LOC112997583, SQSTM1 (L310fs +1 more) | Deletion (frameshift variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (intron variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (nonsense) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (missense variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (missense variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Duplication (frameshift variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (intron variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (missense variant) | Paget disease of bone 2, early-onset +1 more | |
| | LOC129995449, SQSTM1 (R46P) | Single nucleotide variant (missense variant +1 more) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (missense variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (synonymous variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (synonymous variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (intron variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (missense variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (missense variant) | Paget disease of bone 2, early-onset +1 more | |
| | LOC129995449, SQSTM1 (R46W) | Single nucleotide variant (missense variant +1 more) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (intron variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (nonsense) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (missense variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Indel (intron variant +1 more) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (intron variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (intron variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (missense variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (missense variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Indel (missense variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (missense variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (intron variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (missense variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (missense variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (intron variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Deletion (inframe_deletion) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (intron variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (missense variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (missense variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (synonymous variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (intron variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (intron variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (synonymous variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (missense variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (synonymous variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (synonymous variant) | Paget disease of bone 2, early-onset +2 more | |
| | | Single nucleotide variant (missense variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (synonymous variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (intron variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (intron variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (intron variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (missense variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (missense variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (synonymous variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (intron variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (intron variant) | Paget disease of bone 2, early-onset +1 more | |
| | LOC129995449, SQSTM1 (A65E) | Single nucleotide variant (missense variant +1 more) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (missense variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (missense variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (intron variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (synonymous variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (missense variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (intron variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (missense variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (missense variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (intron variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (intron variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (missense variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (synonymous variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Deletion (frameshift variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (missense variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (missense variant) | Paget disease of bone 2, early-onset +1 more | |