Table 2. Pathogenic and unknown genetic varaints and their corresponding patient characteristics.
| Patient no. | Diagnosis | Gender | Age at diagnosis | Hereditary | Syndrome criteria | Size (mm) | Unilateral/multiple | Recurrent | Metastatic | Gene | Exon | Somatic/Germline | cDNA | Amino acid substitution | Concluded Pathogenicity |
| 1 | TA PGL | M | 15 | + | PGL4 | - | Multiple | + | − | SDHB | 3 | Germline | c.268C>T | p.Arg90* | Pathogenic |
| 2 | TA PGL | F | 26 | + | PGL4 | - | Multiple | + | − | SDHB | 3 | Germline | c.268C>T | p.Arg90* | Pathogenic |
| 3 | PCC | M | 76 | − | − | 70 | Uni | − | − | VHL | 1 | Somatic | c.163_192del | p.Glu55_Arg64del | Pathogenic |
| 4 | PCC | M | 58 | − | − | 90 | Uni | − | − | VHL | 1 | Somatic | c.193T>A | p.Ser65Thr | Pathogenic |
| 5 | PCC | F | 49 | − | − | 25 | Uni | − | − | VHL | 1 | Somatic | c.193T>G | p.Ser65Ala | Pathogenic |
| 6 | PCC | F | 25 | − | − | 25 | Uni | − | − | VHL | 1 | Somatic | c.238A>G | p.Ser80Gly | Pathogenic |
| 7 | PCC | F | 47 | − | − | 8 | Uni | − | − | VHL | 2 | Somatic | c.458T>A | p.Leu153Gln | Pathogenic |
| 8 | PCC | M | 47 | − | − | 100 | Uni | − | − | VHL | 3 | Somatic | c.475A>G | p.Lys159Glu | Pathogenic |
| 9 | PCC | F | 66 | NA | VHL | 65/60 | Multiple | − | − | VHL | 3 | Germline | c.482G>A | p.Arg161Gln | Pathogenic |
| 10 | PCC | F | 25 | + | VHL | 60/40 | Multiple | − | − | VHL | 3 | Germline | c.499C>T | p.Arg167Trp | Pathogenic |
| 11 | PCC | M | 21 | + | VHL | 40/30 | Multiple | − | − | VHL | 3 | Germline | c.499C>T | p.Arg167Trp | Pathogenic |
| 12 | PCC | F | 25 | + | VHL | 30 | Uni | − | − | VHL | 3 | Germline | c.499C>T | p.Arg167Trp | Pathogenic |
| 13 | PCC | F | 31 | − | − | 40 | Uni | − | − | VHL | 3 | Somatic | c.551T>A | p.Leu184His | Pathogenic |
| 14 | TA PGL | F | 64 | − | − | 20 | Uni | − | − | EPAS1 | 12 | Somatic | c.1586T>C | p.Leu529Pro | Pathogenic |
| 15 | PCC | F | 81 | − | − | 45 | Uni | − | − | EPAS1 | 12 | Somatic | c.1589C>T | p.Ala530Val | Pathogenic |
| 16 | PCC | F | 27 | + | MEN2A | 100 | Uni | − | − | RET | 10 | Germline | c.1826G>C | p.Cys609Ser | Pathogenic |
| 17 | PCC | F | 57 | + | MEN2A | 23 | Multiple | + | − | RET | 10 | Germline | c.1832G>A | p.Cys611Tyr | Pathogenic |
| 18 | PCC | F | 61 | − | − | 15 | Uni | − | − | RET | 11 | NA | c.1891G>T | p.Asp631Tyr | Pathogenic |
| 19 | PCC | F | 29 | + | MEN2A | 30/47 | Multiple | − | − | RET | 11 | Germline | c.1900T>C | p.Cys634Arg | Pathogenic |
| 20 | PCC | F | 47 | − | − | 80 | Uni | − | − | RET | 11 | Somatic | c.1900T>C | p.Cys634Arg | Pathogenic |
| 21 | PCC | M | 29 | + | MEN2A | 20/NA | Multiple | + | − | RET | 11 | Germline | c.1900T>G | p.Cys634Gly | Pathogenic |
| 22 | PCC | F | 57 | − | − | 60 | Uni | − | − | RET | 11 | Somatic | c.1900T>G | p.Cys634Gly | Pathogenic |
| 23 | PCC | F | 30 | + | MEN2A | 20/NA | Multiple | − | − | RET | 11 | Germline | c.1901G>A | p. Cys634Tyr | Pathogenic |
| 24 | PCC | M | 65 | - | MEN2A | 95 | Uni | + | + | RET | 14 | Germline | c.2410G>A | p.Val804Met | Pathogenic |
| 25 | PCC | F | 18 | − | MEN2B | 25 | Uni | + | − | RET | 16 | Germline | c.2753T>C | p.Met918Thr | Pathogenic |
| 26 | PCC | M | 34 | − | MEN2B | 60/60 | Multiple | − | − | RET | 16 | Germline | c.2753T>C | p.Met918Thr | Pathogenic |
| 27 | PCC | M | 45 | − | − | 30 | Uni | NA | NA | RET | 16 | NA | c.2753T>C | p.Met918Thr | Pathogenic |
| 28 | PCC | F | 31 | − | − | 55 | Uni | − | − | RET | 16 | NA | c.2753T>C | p.Met918Thr | Pathogenic |
| 29 | PCC | M | 54 | − | − | 45 | Uni | − | − | H-RAS | 2 | Somatic | c.37G>C | p.Gly13Arg | Pathogenic |
| 30 | PCC | M | 76 | − | − | 76 | Uni | − | − | H-RAS | 3 | Somatic | c.181C>A | p.Gln61Lys | Pathogenic |
| 31 | PCC | M | 36 | − | − | 30 | Uni | − | − | H-RAS | 3 | Somatic | c.181C>A | p.Gln61Lys | Pathogenic |
| 32 | TA PGL | M | 31 | − | − | 100 | Uni | − | − | H-RAS | 3 | Somatic | c.182A>G | p.Gln61Arg | Pathogenic |
| 33 | PCC | M | 45 | − | − | 100 | Uni | − | − | H-RAS | 3 | Somatic | c.182A>G | p.Gln61Arg | Pathogenic |
| 34 | PCC | F | 61 | − | − | 25 | Uni | − | − | SDHC | 5 | Germline | c.328C>T | p.Pro110Ser | Unknown |
| 35 | PCC | M | 55 | − | − | 65 | Uni | − | − | SDHC | 6 | Germline | c.490A>T | p.Met164Val | Unknown |
| 36 | TA PGL | M | 28 | − | − | 20 | Uni | − | − | VHL | 3 | Germline | c.548C>T | p.Ser183Leu | Unknown |
| 37 | PCC | F | 27 | − | − | 50 | Uni | − | − | RET | 13 | Germline | c.2372A>T | p.Tyr791Phe | Unknown |
PCC; Pheochromocytoma, TA PGL; Thoracoabdominal Paraganglioma, NA; Not Available, F; Female, M; Male, MEN2; Multiple Endocrine Neoplasia type 2, PGL4; Familial Paraganglioma type 4, VHL; Von Hippel Lindau, Uni; Unilateral or focal tumour lesion.