| | | Copy number gain | See cases | |
| | | Single nucleotide variant | Carney-Stratakis syndrome +11 more | |
| | | Single nucleotide variant | Paragangliomas 3 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Paragangliomas 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Paragangliomas 3 +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor +3 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Duplication (frameshift variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Duplication (5 prime UTR variant +1 more) | Charcot-Marie-Tooth, Intermediate +9 more | |
| | | Insertion (5 prime UTR variant +1 more) | not provided | |
| | | Insertion (5 prime UTR variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | Hereditary cancer-predisposing syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +3 more) | Paragangliomas 3 +3 more | |
| | | Single nucleotide variant (missense variant +3 more) | Paragangliomas 3 +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (missense variant +3 more) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (missense variant +3 more) | not specified +5 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Gastrointestinal stromal tumor +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant +3 more) | Gastrointestinal stromal tumor +3 more | |
| | | Single nucleotide variant (nonsense +3 more) | Hereditary pheochromocytoma-paraganglioma +4 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | not specified +4 more | |
| | | Single nucleotide variant (missense variant +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +3 more) | Hereditary pheochromocytoma-paraganglioma +4 more | |
| | | Single nucleotide variant (missense variant +3 more) | not provided +3 more | |
| | | Insertion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Paragangliomas 3 +2 more | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (missense variant +3 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Gastrointestinal stromal tumor +5 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Gastrointestinal stromal tumor +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | Paragangliomas 3 +3 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Paragangliomas 3 +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary cancer-predisposing syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Gastrointestinal stromal tumor +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +3 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Paragangliomas 3 +4 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Paragangliomas 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Paragangliomas 3 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary pheochromocytoma-paraganglioma +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary pheochromocytoma-paraganglioma +5 more | |
| | | Single nucleotide variant (missense variant) | Gastrointestinal stromal tumor +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Paragangliomas 3 +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Gastrointestinal stromal tumor +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Gastrointestinal stromal tumor +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary cancer-predisposing syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Gastrointestinal stromal tumor +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | Paragangliomas 3 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Paragangliomas 3 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not specified +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Hereditary pheochromocytoma-paraganglioma +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Gastrointestinal stromal tumor +4 more | GPathogenic/Likely pathogenic |