NM_003002.4(SDHD):c.342T>A (p.Tyr114Ter)Pathogenic
Hereditary pheochromocytoma and paraganglioma|not specified|Hereditary cancer-predisposing syndrome|Pheochromocytoma;Carney-Stratakis syndrome;Paragangliomas with sensorineural hearing loss;Cowden syndrome 3|Inherited phaeochromocytoma and paraganglioma excluding NF1
★★☆☆2026→ Residue 114
NM_003002.4(SDHD):c.64C>T (p.Arg22Ter)Pathogenic
Pheochromocytoma/paraganglioma syndrome 1|Pheochromocytoma|not provided|Hereditary cancer-predisposing syndrome|Pheochromocytoma;Cowden syndrome 3;Carney-Stratakis syndrome;Paragangliomas with sensorineural hearing loss|Hereditary pheochromocytoma and paraganglioma
★★☆☆2026→ Residue 22
NM_003002.4(SDHD):c.57del (p.Leu20fs)Pathogenic
Carney-Stratakis syndrome|not provided|Hereditary cancer-predisposing syndrome|Hereditary pheochromocytoma and paraganglioma|Pheochromocytoma;Cowden syndrome 3;Carney-Stratakis syndrome;Paragangliomas with sensorineural hearing loss|Carney-Stratakis syndrome;Mitochondrial complex 2 deficiency, nuclear type 3;Pheochromocytoma/paraganglioma syndrome 1|Inherited phaeochromocytoma and paraganglioma excluding NF1
★★☆☆2026→ Residue 20
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)Pathogenic
Pheochromocytoma/paraganglioma syndrome 1|Pheochromocytoma|Hereditary pheochromocytoma and paraganglioma|Hereditary cancer-predisposing syndrome|not provided|Pheochromocytoma;Carney-Stratakis syndrome;Mitochondrial complex II deficiency, nuclear type 1;Pheochromocytoma/paraganglioma syndrome 1|Mitochondrial complex II deficiency, nuclear type 1|Pheochromocytoma;Cowden syndrome 3;Carney-Stratakis syndrome;Paragangliomas with sensorineural hearing loss|Mitochondrial complex 2 deficiency, nuclear type 3|SDHD-related disorder|Inherited phaeochromocytoma and paraganglioma excluding NF1|Carney-Stratakis syndrome;Mitochondrial complex 2 deficiency, nuclear type 3;Pheochromocytoma/paraganglioma syndrome 1
★★☆☆2026→ Residue 81
NM_003002.4(SDHD):c.275A>T (p.Asp92Val)Likely pathogenic
not provided|Hereditary cancer-predisposing syndrome|Pheochromocytoma;Cowden syndrome 3;Paragangliomas with sensorineural hearing loss;Carney-Stratakis syndrome
★★☆☆2026→ Residue 92
NM_003002.4(SDHD):c.317G>T (p.Gly106Val)Pathogenic
Hereditary cancer-predisposing syndrome|Pheochromocytoma/paraganglioma syndrome 1|Pheochromocytoma;Carney-Stratakis syndrome;Cowden syndrome 3;Paragangliomas with sensorineural hearing loss|SDHD-related disorder|not provided
★★☆☆2026→ Residue 106
NM_003002.4(SDHD):c.412G>A (p.Gly138Arg)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Pheochromocytoma;Carney-Stratakis syndrome;Cowden syndrome 3;Paragangliomas with sensorineural hearing loss
★★☆☆2026→ Residue 138
NM_003002.4(SDHD):c.106C>T (p.Gln36Ter)Pathogenic
Pheochromocytoma/paraganglioma syndrome 1|Hereditary cancer-predisposing syndrome|Pheochromocytoma;Cowden syndrome 3;Carney-Stratakis syndrome;Paragangliomas with sensorineural hearing loss
★★☆☆2026→ Residue 36
NM_003002.4(SDHD):c.325C>T (p.Gln109Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Pheochromocytoma;Carney-Stratakis syndrome;Paragangliomas with sensorineural hearing loss;Cowden syndrome 3
★★☆☆2026→ Residue 109
NM_003002.4(SDHD):c.3G>C (p.Met1Ile)Pathogenic
Pheochromocytoma/paraganglioma syndrome 1|Hereditary pheochromocytoma and paraganglioma|Hereditary cancer-predisposing syndrome|Pheochromocytoma;Cowden syndrome 3;Carney-Stratakis syndrome;Paragangliomas with sensorineural hearing loss|not provided
★★☆☆2025→ Residue 1
NM_003002.4(SDHD):c.155C>A (p.Ser52Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Carney-Stratakis syndrome;Pheochromocytoma;Paragangliomas with sensorineural hearing loss;Cowden syndrome 3
★★☆☆2025→ Residue 52
NM_003002.4(SDHD):c.283del (p.Leu95fs)Pathogenic
Carney-Stratakis syndrome;Pheochromocytoma;Cowden syndrome 3;Paragangliomas with sensorineural hearing loss|not provided|Hereditary cancer-predisposing syndrome
★★☆☆2025→ Residue 95
NM_003002.4(SDHD):c.14G>A (p.Trp5Ter)Pathogenic
Pheochromocytoma;Cowden syndrome 3;Carney-Stratakis syndrome;Paragangliomas with sensorineural hearing loss|Hereditary cancer-predisposing syndrome|Pheochromocytoma/paraganglioma syndrome 1|not provided
★★☆☆2025→ Residue 5
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Pheochromocytoma|Hereditary pheochromocytoma and paraganglioma|Pheochromocytoma;Cowden syndrome 3;Carney-Stratakis syndrome;Paragangliomas with sensorineural hearing loss|Mitochondrial complex 2 deficiency, nuclear type 3|Pheochromocytoma/paraganglioma syndrome 1
★★☆☆2025→ Residue 107
NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys)Pathogenic
Pheochromocytoma/paraganglioma syndrome 1|Hereditary pheochromocytoma and paraganglioma|Hereditary cancer-predisposing syndrome|not provided|Pheochromocytoma;Cowden syndrome 3;Carney-Stratakis syndrome;Paragangliomas with sensorineural hearing loss
★★☆☆2025→ Residue 114
NM_003002.4(SDHD):c.341_342del (p.Tyr114fs)Pathogenic
Hereditary cancer-predisposing syndrome|Pheochromocytoma;Cowden syndrome 3;Carney-Stratakis syndrome;Paragangliomas with sensorineural hearing loss
★★☆☆2025→ Residue 114
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr)Pathogenic
Pheochromocytoma/paraganglioma syndrome 1|Hereditary pheochromocytoma and paraganglioma|Hereditary cancer-predisposing syndrome|not provided|Pheochromocytoma/paraganglioma syndrome 4|Pheochromocytoma;Cowden syndrome 3;Carney-Stratakis syndrome;Paragangliomas with sensorineural hearing loss
★★☆☆2025→ Residue 92
NM_003002.4(SDHD):c.197G>A (p.Trp66Ter)Pathogenic
not provided|Cowden syndrome 3;Pheochromocytoma;Paragangliomas with sensorineural hearing loss;Carney-Stratakis syndrome
★★☆☆2025→ Residue 66
NM_003002.4(SDHD):c.416T>C (p.Leu139Pro)Pathogenic
Pheochromocytoma/paraganglioma syndrome 1|Hereditary pheochromocytoma and paraganglioma|not provided|Hereditary cancer-predisposing syndrome
★★☆☆2025→ Residue 139
NM_003002.4(SDHD):c.298_301del (p.Thr100fs)Pathogenic
Hereditary cancer-predisposing syndrome|Hereditary pheochromocytoma and paraganglioma|Pheochromocytoma;Carney-Stratakis syndrome;Cowden syndrome 3;Paragangliomas with sensorineural hearing loss
★★☆☆2025→ Residue 100