| | LOC130006930, LOC130006931 +1199 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | Pheochromocytoma +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hereditary pheochromocytoma-paraganglioma | |
| | | Deletion | Carney-Stratakis syndrome +4 more | |
| | | Duplication | Paragangliomas 1 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hereditary pheochromocytoma-paraganglioma | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | SDHD-related condition | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | Carney-Stratakis syndrome +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Pheochromocytoma +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Pheochromocytoma +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pheochromocytoma +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary pheochromocytoma-paraganglioma | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pheochromocytoma +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pheochromocytoma +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pheochromocytoma +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Carney-Stratakis syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pheochromocytoma +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Microsatellite (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pheochromocytoma +3 more | |
| | | Duplication (frameshift variant +1 more) | Carney-Stratakis syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Paragangliomas with sensorineural hearing loss +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cowden syndrome 3 +3 more | |
| | | Deletion (frameshift variant +1 more) | Pheochromocytoma +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | |
| | | Deletion (frameshift variant +1 more) | Paragangliomas 1 +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Paragangliomas with sensorineural hearing loss +4 more | |
| | | Single nucleotide variant (nonsense +1 more) | Carney-Stratakis syndrome +4 more | |
| | | Single nucleotide variant (nonsense +1 more) | Paragangliomas with sensorineural hearing loss +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pheochromocytoma +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Deletion (frameshift variant +1 more) | Carney-Stratakis syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Pheochromocytoma +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +7 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Carney-Stratakis syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Paragangliomas with sensorineural hearing loss +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Carney-Stratakis syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pheochromocytoma +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary pheochromocytoma-paraganglioma +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cowden syndrome 3 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pheochromocytoma +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Carney-Stratakis syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pheochromocytoma +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pheochromocytoma +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pheochromocytoma +5 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pheochromocytoma +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex 2 deficiency, nuclear type 3 +5 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pheochromocytoma +4 more | |
| | | Single nucleotide variant (nonsense +1 more) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pheochromocytoma +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pheochromocytoma +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Cowden syndrome 3 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex 2 deficiency, nuclear type 3 +6 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cowden syndrome 3 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Paragangliomas with sensorineural hearing loss +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Paragangliomas with sensorineural hearing loss +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary pheochromocytoma-paraganglioma +5 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Paragangliomas with sensorineural hearing loss +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pheochromocytoma +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Deletion (splice donor variant) | Carney-Stratakis syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pheochromocytoma +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pheochromocytoma +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Carney-Stratakis syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pheochromocytoma +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pheochromocytoma +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pheochromocytoma +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pheochromocytoma +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pheochromocytoma +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Carney-Stratakis syndrome +4 more | |
| | | Single nucleotide variant (nonsense +1 more) | Paragangliomas 1 +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cowden syndrome 3 +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Carney-Stratakis syndrome +3 more | |
| | | Indel (splice donor variant) | Hereditary cancer-predisposing syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Pheochromocytoma +4 more | |
| | | Single nucleotide variant (splice donor variant) | Pheochromocytoma +3 more | |
| | | Single nucleotide variant (splice donor variant) | Pheochromocytoma | |
| | | Duplication (intron variant) | Paragangliomas with sensorineural hearing loss +3 more | |
| | | Deletion (intron variant) | Cowden syndrome 3 +3 more | |
| | | Single nucleotide variant (intron variant) | Pheochromocytoma +4 more | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome +4 more | |