Links from PubMed
Items: 13
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive Alport syndrome +1 more | |
| | | Deletion (inframe_deletion) | Autosomal recessive Alport syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive Alport syndrome | |
| | | Deletion (inframe_deletion) | Benign familial hematuria +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice donor variant) | Autosomal recessive Alport syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense) | Kidney damage +4 more | |
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