| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | LAMB2-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense) | Pierson syndrome +3 more | |
| | | Duplication (frameshift variant) | LAMB2-related infantile-onset nephrotic syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Pierson syndrome +2 more | |
| | LAMB2, LOC129936738 (C852fs) | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite | LAMB2-related infantile-onset nephrotic syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
Click to view in NCBI Gene