| | | Single nucleotide variant (missense variant +1 more) | not provided +14 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Epidermal nevus +31 more | |
| | | Single nucleotide variant (missense variant +1 more) | Connective tissue disorder +17 more | |
| | | Single nucleotide variant (missense variant +2 more) | Connective tissue disorder +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Achondroplasia +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | FGFR3-related disorder +16 more | |
| | | Single nucleotide variant (missense variant +2 more) | Achondroplasia +14 more | |
| | | Single nucleotide variant (missense variant +2 more) | Achondroplasia +15 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Malignant tumor of testis +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor +6 more | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor +5 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | Mastocytosis +4 more | |
| | | Single nucleotide variant (nonsense) | KIT-related disorder +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor +5 more | |
| | | Single nucleotide variant (missense variant) | Mastocytosis +5 more | |
| | | Single nucleotide variant (missense variant) | Mastocytosis +5 more | |
| | | Single nucleotide variant (missense variant) | Malignant tumor of testis +4 more | |
| | | Single nucleotide variant (intron variant) | Breast and/or ovarian cancer +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Carcinoma of pancreas +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Peutz-Jeghers syndrome +3 more | |
| | LOC130062899, STK11 (V338M) | Single nucleotide variant (missense variant) | Carcinoma of pancreas +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Peutz-Jeghers syndrome +5 more | |