| | ADAM19, ADAMTS2 +1166 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129995246, LOC129995247 +622 more | Copy number gain | See cases | |
| | LOC129995359, LOC129995360 +386 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | ADAMTS2, B4GALT7 +325 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron 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) | not provided | |
| | | Single nucleotide variant (intron variant) | Bone Paget disease +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Paget disease of bone 3 | |
| | | Single nucleotide variant (intron variant +1 more) | Paget disease of bone 3 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Paget disease of bone 3 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Paget disease of bone 3 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Paget disease of bone 3 | |
| | | Single nucleotide variant (missense variant +2 more) | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | |
| | | Single nucleotide variant (missense variant +2 more) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | 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) | See cases | |
| | | 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 +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | 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 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | 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 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | SQSTM1-related disorder +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +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 (synonymous variant +1 more) | 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 | |
| | | Single nucleotide variant (missense variant +1 more) | Paget disease of bone 3 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +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) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more | |
| | | Deletion (inframe_deletion +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more | |
| | | Single nucleotide variant (missense 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 +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 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | SQSTM1-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more | |
| | | Duplication (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more | |
| | | Indel (inframe_indel +1 more) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | 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 | |
| | LOC129995449, SQSTM1 (R46P) | Single nucleotide variant (missense variant +1 more) | Paget disease of bone 2, early-onset +1 more | |
| | SQSTM1, LOC129995449 (L47V) | Single nucleotide variant (missense variant +1 more) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Paget disease of bone 2, early-onset +1 more | |
| | LOC129995449, SQSTM1 (A52S) | Single nucleotide variant (missense variant +1 more) | SQSTM1-related disorder +2 more | |
| | SQSTM1, LOC129995449 (A53V) | Single nucleotide variant (missense variant +1 more) | Paget disease of bone 2, early-onset +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | 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 | |
| | LOC129995449, SQSTM1 (F55L) | Single nucleotide variant (missense variant +1 more) | Paget disease of bone 3 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Paget disease of bone 2, early-onset +1 more | |
| | LOC129995449, SQSTM1 (L58del) | Deletion (inframe_deletion +1 more) | 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 +2 more | |
| | LOC129995449, SQSTM1 (R59fs) | Duplication (intron variant +1 more) | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | |
| | LOC129995449, SQSTM1 (P60S) | Single nucleotide variant (missense variant +1 more) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more | |
| | LOC129995449, SQSTM1 (G61S) | Single nucleotide variant (intron variant +1 more) | Paget disease of bone 3 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Paget disease of bone 2, early-onset +3 more | |
| | | Indel (intron variant +1 more) | Paget disease of bone 2, early-onset +1 more | |
| | SQSTM1, LOC129995449 (G62V) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |