| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Paget disease of bone 2, early-onset +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +2 more | |
| | | 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 (splice donor variant) | Paget disease of bone 2, early-onset +1 more | |
| | | Single nucleotide variant (missense variant) | Paget disease of bone 2, early-onset +6 more | GConflicting classifications of pathogenicity |
| | | Duplication (inframe_insertion) | not provided | |
| | | Duplication (inframe_insertion) | not provided +2 more | |
| | | Duplication (inframe_insertion) | Paget disease of bone 2, early-onset | |
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