| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (intron variant) | Wooly hair-palmoplantar keratoderma syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Wooly hair-palmoplantar keratoderma syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Wooly hair-palmoplantar keratoderma syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Nephrotic syndrome 16 +2 more | |
Click to view in NCBI Gene