| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (intron variant) | Autosomal recessive nonsyndromic hearing loss 97 +3 more | |
| | | Single nucleotide variant (missense variant) | Papillary renal cell carcinoma type 1 +5 more | |
| | | Single nucleotide variant (missense variant) | not specified +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Renal cell carcinoma +5 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +5 more | |
Click to view in NCBI Gene