| | | Single nucleotide variant (missense variant +2 more) | Mitochondrial complex 2 deficiency, nuclear type 3 | |
| | | Single nucleotide variant (nonsense +3 more) | Mitochondrial complex 2 deficiency, nuclear type 3 | |
| | | Single nucleotide variant (splice acceptor variant) | Pheochromocytoma +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Cowden syndrome 3 +6 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (intron variant) | Hereditary pheochromocytoma-paraganglioma +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | Mitochondrial complex 2 deficiency, nuclear type 3 +4 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | Carney-Stratakis syndrome +6 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Pheochromocytoma +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +7 more | |
| | | Single nucleotide variant (missense variant +2 more) | Paragangliomas with sensorineural hearing loss +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not specified +7 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | Mitochondrial complex 2 deficiency, nuclear type 3 +5 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Hereditary cancer-predisposing syndrome +6 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary pheochromocytoma-paraganglioma +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Indel (missense variant +2 more) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (splice acceptor variant) | Carney-Stratakis syndrome +4 more | |
| | | Single nucleotide variant (intron variant) | Pheochromocytoma +8 more | |
| | | Single nucleotide variant (intron variant) | Paragangliomas 1 +5 more | |
| | | Single nucleotide variant (nonsense +2 more) | Mitochondrial complex 2 deficiency, nuclear type 3 +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | Mitochondrial complex 2 deficiency, nuclear type 3 +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +3 more) | Hereditary cancer-predisposing syndrome +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +7 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary cancer-predisposing syndrome +7 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary pheochromocytoma-paraganglioma +6 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary pheochromocytoma-paraganglioma +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +3 more) | Mitochondrial complex 2 deficiency, nuclear type 3 +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +7 more | |
| | | Single nucleotide variant (missense variant +2 more) | Mitochondrial complex 2 deficiency, nuclear type 3 +6 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided +10 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +6 more | |
| | | Single nucleotide variant (missense variant +2 more) | Paragangliomas with sensorineural hearing loss +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary cancer-predisposing syndrome +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Pheochromocytoma +9 more | |
| | | Single nucleotide variant (missense variant +2 more) | Fatal infantile mitochondrial cardiomyopathy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Hereditary cancer-predisposing syndrome +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary cancer-predisposing syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary cancer-predisposing syndrome +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Carney-Stratakis syndrome +9 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided +7 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Deletion (frameshift variant +2 more) | not provided +7 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hereditary pheochromocytoma-paraganglioma +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +8 more | GConflicting classifications of pathogenicity |