| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Hereditary insensitivity to pain with anhidrosis +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary insensitivity to pain with anhidrosis | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary insensitivity to pain with anhidrosis | |
| | | Single nucleotide variant (missense variant) | Hereditary insensitivity to pain with anhidrosis | |
| | | Single nucleotide variant (missense variant) | Hereditary insensitivity to pain with anhidrosis | |
| | | Single nucleotide variant (missense variant) | Familial medullary thyroid carcinoma +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary insensitivity to pain with anhidrosis +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
Click to view in NCBI Gene