- The following term was not found in ClinVar: lacerata.
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (inframe_insertion) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Paget disease of bone 3 | |
| | | Single nucleotide variant (missense variant) | Paget disease of bone 3 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Deletion (inframe_deletion) | Café-au-lait macules with pulmonary stenosis +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Linear skin defects with multiple congenital anomalies 3 +1 more | |
| | | Single nucleotide variant (nonsense) | Mitochondrial complex I deficiency, nuclear type 1 +3 more | |
Click to view in NCBI Gene