| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LAMB2, LOC129936738 (R863H) | Single nucleotide variant (missense variant) | Pierson syndrome +2 more | GConflicting classifications of pathogenicity |
| | LAMB2, LOC129936738 (S841R) | Single nucleotide variant (missense variant) | LAMB2-related infantile-onset nephrotic syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Pierson syndrome +2 more | |
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