| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | Familial melanoma +6 more | |
| | | Single nucleotide variant (missense variant +2 more) | Melanoma-pancreatic cancer syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Melanoma-pancreatic cancer syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Melanoma-pancreatic cancer syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Melanoma and neural system tumor syndrome +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Familial melanoma +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene