| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC129992813, PKD2 (G51fs) | Deletion (frameshift variant +1 more) | Autosomal dominant polycystic kidney disease +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Polycystic kidney disease 2 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Polycystic kidney disease 2 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | not provided +3 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +3 more | |
| | | Deletion (frameshift variant +1 more) | not provided +2 more | |
| | | Deletion (inframe_deletion +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
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