NM_003000.3(SDHB):c.287G>A (p.Gly96Asp)Pathogenic
Hereditary cancer-predisposing syndrome|Hereditary pheochromocytoma and paraganglioma|Pheochromocytoma/paraganglioma syndrome 4;Gastrointestinal stromal tumor;Pheochromocytoma|Pheochromocytoma/paraganglioma syndrome 4
β
β
ββ2026β Residue 96
NM_003000.3(SDHB):c.287-1G>CPathogenic
Hereditary pheochromocytoma and paraganglioma|Hereditary cancer-predisposing syndrome|Pheochromocytoma/paraganglioma syndrome 4|Pheochromocytoma;Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 4|not provided
β
β
ββ2026
NM_003000.3(SDHB):c.141G>A (p.Trp47Ter)Pathogenic
Pheochromocytoma;Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 4|not provided|Hereditary cancer-predisposing syndrome|Pheochromocytoma/paraganglioma syndrome 4
β
β
ββ2026β Residue 47
NM_003000.3(SDHB):c.72+1G>TPathogenic
Carney-Stratakis syndrome|Hereditary cancer-predisposing syndrome|not provided|Pheochromocytoma;Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 4|Hereditary pheochromocytoma and paraganglioma|not specified|Gastrointestinal stromal tumor|Pheochromocytoma/paraganglioma syndrome 4|SDHB-related disorder|Inherited phaeochromocytoma and paraganglioma excluding NF1
β
β
ββ2026
NM_003000.3(SDHB):c.784_787dup (p.Ile263fs)Likely pathogenic
not provided|Pheochromocytoma/paraganglioma syndrome 4;Gastrointestinal stromal tumor;Pheochromocytoma|Hereditary cancer-predisposing syndrome
β
β
ββ2026β Residue 263
NM_003000.3(SDHB):c.725G>A (p.Arg242His)Pathogenic
Pheochromocytoma/paraganglioma syndrome 4|Gastrointestinal stromal tumor|Hereditary cancer-predisposing syndrome|not provided|Hereditary pheochromocytoma and paraganglioma|Pheochromocytoma/paraganglioma syndrome 4;Gastrointestinal stromal tumor;Pheochromocytoma|SDHB-related disorder|Mitochondrial complex 2 deficiency, nuclear type 4|Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 4;Gastrointestinal stromal tumor;Mitochondrial complex 2 deficiency, nuclear type 4
β
β
ββ2026β Residue 242
NM_003000.3(SDHB):c.574T>C (p.Cys192Arg)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Hereditary pheochromocytoma and paraganglioma|Gastrointestinal stromal tumor;Pheochromocytoma;Pheochromocytoma/paraganglioma syndrome 4|Pheochromocytoma/paraganglioma syndrome 4|Gastrointestinal stromal tumor|Gastrointestinal stromal tumor;Mitochondrial complex 2 deficiency, nuclear type 4;Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 4
β
β
ββ2026β Residue 192
NM_003000.3(SDHB):c.136C>T (p.Arg46Ter)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Pheochromocytoma;Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 4|Hereditary pheochromocytoma and paraganglioma|Pheochromocytoma/paraganglioma syndrome 4|Gastrointestinal stromal tumor|SDHB-related disorder
β
β
ββ2026β Residue 46
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Pheochromocytoma/paraganglioma syndrome 4|Hereditary pheochromocytoma and paraganglioma|Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 4;Pheochromocytoma|Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 4;Pheochromocytoma|SDHB-related disorder|Pheochromocytoma|Gastrointestinal stromal tumor|Gastrointestinal stromal tumor;Mitochondrial complex 2 deficiency, nuclear type 4;Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 4|Inherited renal cancer|Inherited phaeochromocytoma and paraganglioma excluding NF1
β
β
ββ2026β Residue 46
NM_003000.3(SDHB):c.688C>T (p.Arg230Cys)Pathogenic
Hereditary cancer-predisposing syndrome|Hereditary pheochromocytoma and paraganglioma|not provided|Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 4;Pheochromocytoma|Pheochromocytoma/paraganglioma syndrome 4
β
β
ββ2026β Residue 230
NM_003000.3(SDHB):c.689G>A (p.Arg230His)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Gastrointestinal stromal tumor;Pheochromocytoma;Pheochromocytoma/paraganglioma syndrome 4|Hereditary pheochromocytoma and paraganglioma|Pheochromocytoma/paraganglioma syndrome 4|Pheochromocytoma;Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 4|Mitochondrial complex 2 deficiency, nuclear type 4|Gastrointestinal stromal tumor|Gastrointestinal stromal tumor;Mitochondrial complex 2 deficiency, nuclear type 4;Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 4|Inherited phaeochromocytoma and paraganglioma excluding NF1
β
β
ββ2026β Residue 230
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Pheochromocytoma/paraganglioma syndrome 4|Pheochromocytoma;Pheochromocytoma/paraganglioma syndrome 4;Gastrointestinal stromal tumor|not provided|Pheochromocytoma;Pheochromocytoma/paraganglioma syndrome 4;Carney-Stratakis syndrome|Hereditary pheochromocytoma and paraganglioma|Gastrointestinal stromal tumor
β
β
ββ2026β Residue 214
NM_003000.3(SDHB):c.286G>A (p.Gly96Ser)Pathogenic
Hereditary cancer-predisposing syndrome|Gastrointestinal stromal tumor;Pheochromocytoma;Pheochromocytoma/paraganglioma syndrome 4|not provided|Hereditary pheochromocytoma and paraganglioma|Gastrointestinal stromal tumor|Pheochromocytoma/paraganglioma syndrome 4|Inherited phaeochromocytoma and paraganglioma excluding NF1|Melanoma
β
β
ββ2026β Residue 96
NM_003000.3(SDHB):c.311delinsGG (p.Asn104fs)Pathogenic
Hereditary cancer-predisposing syndrome|Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 4;Pheochromocytoma|not provided|Pheochromocytoma/paraganglioma syndrome 4|Hereditary pheochromocytoma and paraganglioma|SDHB-related disorder
β
β
ββ2026β Residue 104
NM_003000.3(SDHB):c.201-2A>CPathogenic
Gastrointestinal stromal tumor;Pheochromocytoma;Pheochromocytoma/paraganglioma syndrome 4|Hereditary cancer-predisposing syndrome|Pheochromocytoma/paraganglioma syndrome 4
β
β
ββ2026
NM_003000.3(SDHB):c.423+1G>CPathogenic
Carney-Stratakis syndrome|Hereditary cancer-predisposing syndrome|Pheochromocytoma/paraganglioma syndrome 4;Gastrointestinal stromal tumor;Pheochromocytoma
β
β
ββ2026
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter)Pathogenic
Pheochromocytoma/paraganglioma syndrome 4|Hereditary pheochromocytoma and paraganglioma|not provided|Hereditary cancer-predisposing syndrome|Pheochromocytoma/paraganglioma syndrome 4;Gastrointestinal stromal tumor;Pheochromocytoma|Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 4;Pheochromocytoma|Von Hippel-Lindau syndrome
β
β
ββ2026β Residue 90
NM_003000.3(SDHB):c.166_170del (p.Pro56fs)Pathogenic
Hereditary cancer-predisposing syndrome|Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 4;Pheochromocytoma|not specified|Pheochromocytoma|Pheochromocytoma/paraganglioma syndrome 4|not provided|Gastrointestinal stromal tumor;Mitochondrial complex 2 deficiency, nuclear type 4;Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 4;Pheochromocytoma|Gastrointestinal stromal tumor|SDHB-related disorder
β
β
ββ2026β Residue 56
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser)Pathogenic
Hereditary cancer-predisposing syndrome|Carney triad|Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 4;Pheochromocytoma|not provided|Pheochromocytoma/paraganglioma syndrome 4|Hereditary pheochromocytoma and paraganglioma|Gastrointestinal stromal tumor;Hereditary pheochromocytoma and paraganglioma|Gastrointestinal stromal tumor|Gastrointestinal stromal tumor;Mitochondrial complex 2 deficiency, nuclear type 4;Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 4|Inherited phaeochromocytoma and paraganglioma excluding NF1
β
β
ββ2026β Residue 127
NM_003000.3(SDHB):c.572G>A (p.Cys191Tyr)Pathogenic
Renal neoplasm|Pheochromocytoma/paraganglioma syndrome 4;Pheochromocytoma;Gastrointestinal stromal tumor|Pheochromocytoma/paraganglioma syndrome 4|Hereditary cancer-predisposing syndrome
β
β
ββ2026β Residue 191