| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | AXDND1, NPHS2 (F276fs +1 more) | Deletion (frameshift variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | AXDND1, NPHS2 (R322Q +1 more) | Single nucleotide variant (missense variant +1 more) | Nephrotic syndrome, type 2 | GConflicting classifications of pathogenicity |
| | NPHS2, AXDND1 (R322* +1 more) | Single nucleotide variant (nonsense +1 more) | Idiopathic nephrotic syndrome +2 more | GConflicting classifications of pathogenicity |
| | AXDND1, NPHS2 (E242K +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | AXDND1, NPHS2 (R291W +1 more) | Single nucleotide variant (missense variant +1 more) | Steroid-resistant nephrotic syndrome +3 more | GPathogenic/Likely pathogenic |
| | AXDND1, NPHS2 (V290M +1 more) | Single nucleotide variant (missense variant +1 more) | NPHS2-related disorder +2 more | GPathogenic/Likely pathogenic |
| | AXDND1, NPHS2 (A284V +1 more) | Single nucleotide variant (missense variant +1 more) | Nephrotic syndrome, type 2 +2 more | GPathogenic/Likely pathogenic |
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