| | LOC129992561, LOC129992562 +1409 more | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number gain | See cases | |
| | LOC129389216, LOC129389217 +757 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ENAM, LOC123477761 +360 more | Copy number loss | Piebaldism | |
| | LOC129992618, LOC129992619 +143 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Piebaldism +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Mastocytosis +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Mastocytosis +4 more | GConflicting classifications of pathogenicity |
| | | Duplication | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (5 prime UTR variant) | KIT-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor +1 more | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (synonymous variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (synonymous variant) | Gastrointestinal stromal tumor +1 more | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Indel (missense variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor +1 more | |
| | | Single nucleotide variant (synonymous variant) | Gastrointestinal stromal tumor +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (synonymous variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Insertion (frameshift variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (synonymous variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (synonymous variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (missense variant) | Hereditary breast ovarian cancer syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Gastrointestinal stromal tumor +1 more | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor | |
| | | Indel (missense variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Indel (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor +2 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor +1 more | |
| | | Duplication (splice donor variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (intron variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (intron variant) | Piebaldism +4 more | |
| | | Single nucleotide variant (intron variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (intron variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (intron variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (intron variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (intron variant) | Gastrointestinal stromal tumor | |
| | | Deletion (intron variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (intron variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (intron variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (intron variant) | Gastrointestinal stromal tumor | |
| | | Single nucleotide variant (intron variant) | Mastocytosis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Gastrointestinal stromal tumor | |