NM_003001.5(SDHC):c.214C>T (p.Arg72Cys)Pathogenic
Pheochromocytoma/paraganglioma syndrome 3;Gastrointestinal stromal tumor|not provided|Hereditary cancer-predisposing syndrome|Pheochromocytoma/paraganglioma syndrome 3;Gastrointestinal stromal tumor;Carney-Stratakis syndrome|Pheochromocytoma/paraganglioma syndrome 3
★★☆☆2026→ Residue 72
NM_003001.5(SDHC):c.405+1G>TPathogenic
Pheochromocytoma/paraganglioma syndrome 3|Hereditary cancer-predisposing syndrome|Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 3|not provided|Hereditary pheochromocytoma and paraganglioma
★★☆☆2026
NM_003001.5(SDHC):c.233dup (p.Leu78fs)Pathogenic
Hereditary cancer-predisposing syndrome|Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 3
★★☆☆2026→ Residue 78
NM_003001.5(SDHC):c.2T>G (p.Met1Arg)Pathogenic
Pheochromocytoma/paraganglioma syndrome 3;Gastrointestinal stromal tumor|not provided|Pheochromocytoma/paraganglioma syndrome 3
★★☆☆2026→ Residue 1
NM_003001.5(SDHC):c.43C>T (p.Arg15Ter)Pathogenic
Pheochromocytoma/paraganglioma syndrome 3|Hereditary cancer-predisposing syndrome|Hereditary pheochromocytoma and paraganglioma|not provided|Pheochromocytoma/paraganglioma syndrome 3;Gastrointestinal stromal tumor|Gastrointestinal stromal tumor|SDHC-related disorder|Inherited phaeochromocytoma and paraganglioma excluding NF1|Pheochromocytoma/paraganglioma syndrome 3;Gastrointestinal stromal tumor;Carney-Stratakis syndrome
★★☆☆2026→ Residue 15
NM_003001.5(SDHC):c.224G>A (p.Gly75Asp)Pathogenic
Carney triad|Hereditary cancer-predisposing syndrome|Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 3
★★☆☆2026→ Residue 75
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys)Pathogenic
not specified|Hereditary cancer-predisposing syndrome|Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 3|not provided|Hereditary pheochromocytoma and paraganglioma|Pheochromocytoma/paraganglioma syndrome 3|Gastrointestinal stromal tumor
★★☆☆2025→ Residue 50
NM_003001.5(SDHC):c.21-2A>GPathogenic
Hereditary cancer-predisposing syndrome|Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 3|not provided|Pheochromocytoma/paraganglioma syndrome 3
★★☆☆2025
NM_003001.5(SDHC):c.377A>G (p.Tyr126Cys)Pathogenic
Hereditary cancer-predisposing syndrome|Hereditary pheochromocytoma and paraganglioma|not provided|Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 3|Pheochromocytoma/paraganglioma syndrome 3|SDHC-related disorder|Gastrointestinal stromal tumor|Carney-Stratakis syndrome;Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 3|Inherited phaeochromocytoma and paraganglioma excluding NF1
★★☆☆2025→ Residue 126
NM_003001.5(SDHC):c.1A>G (p.Met1Val)Pathogenic
Pheochromocytoma/paraganglioma syndrome 3|Hereditary cancer-predisposing syndrome|Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 3|not provided
★★☆☆2025→ Residue 1
NM_003001.5(SDHC):c.77+1G>CPathogenic
Pheochromocytoma/paraganglioma syndrome 3|Hereditary cancer-predisposing syndrome
★★☆☆2025
NM_003001.5(SDHC):c.439C>T (p.Gln147Ter)Likely pathogenic
not provided|Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 3|Pheochromocytoma/paraganglioma syndrome 3
★★☆☆2025→ Residue 147
NM_003001.5(SDHC):c.17_18dup (p.Arg7Ter)Pathogenic
not provided|Pheochromocytoma/paraganglioma syndrome 3;Gastrointestinal stromal tumor|Pheochromocytoma/paraganglioma syndrome 3
★★☆☆2025→ Residue 7
NM_003001.5(SDHC):c.380A>G (p.His127Arg)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 3|Gastrointestinal stromal tumor|Pheochromocytoma/paraganglioma syndrome 3|Hereditary pheochromocytoma and paraganglioma|Inherited phaeochromocytoma and paraganglioma excluding NF1
★★☆☆2025→ Residue 127
NM_003001.5(SDHC):c.215G>A (p.Arg72His)Pathogenic
Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 3|not provided|Hereditary cancer-predisposing syndrome|Gastrointestinal stromal tumor|Hereditary pheochromocytoma and paraganglioma|Pheochromocytoma/paraganglioma syndrome 3
★★☆☆2025→ Residue 72
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 3|not provided|Hereditary pheochromocytoma and paraganglioma|Pheochromocytoma/paraganglioma syndrome 3|Carney-Stratakis syndrome|Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 3;Carney-Stratakis syndrome|Gastrointestinal stromal tumor
★★☆☆2025→ Residue 133
NM_003001.5(SDHC):c.387G>A (p.Trp129Ter)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 3|Gastrointestinal stromal tumor|Hereditary pheochromocytoma and paraganglioma
★★☆☆2025→ Residue 129
NM_003001.5(SDHC):c.78-1G>TPathogenic
Pheochromocytoma/paraganglioma syndrome 3;Gastrointestinal stromal tumor|Hereditary cancer-predisposing syndrome|Hereditary pheochromocytoma and paraganglioma
★★☆☆2025
NM_003001.5(SDHC):c.1A>T (p.Met1Leu)Pathogenic
Pheochromocytoma/paraganglioma syndrome 3;Gastrointestinal stromal tumor|Pheochromocytoma/paraganglioma syndrome 3|Hereditary cancer-predisposing syndrome
★★☆☆2025→ Residue 1
NM_003001.5(SDHC):c.379C>A (p.His127Asn)Likely pathogenic
Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 3|not provided
★★☆☆2025→ Residue 127