| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | NTRK1-related condition +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene