| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | TTC21B-AS1, TTC21B (P209L) | Single nucleotide variant (missense variant) | Asphyxiating thoracic dystrophy 4 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Finnish congenital nephrotic syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Finnish congenital nephrotic syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Finnish congenital nephrotic syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | NPHS1-related disorder +2 more | |
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