NM_004168.4(SDHA):c.1151C>G (p.Ser384Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Pheochromocytoma/paraganglioma syndrome 5;Mitochondrial complex II deficiency, nuclear type 1|Gastrointestinal stromal tumor|Pheochromocytoma/paraganglioma syndrome 5|not provided
★★☆☆2026→ Residue 384
NM_004168.4(SDHA):c.1A>G (p.Met1Val)Pathogenic
Mitochondrial complex II deficiency, nuclear type 1;Pheochromocytoma/paraganglioma syndrome 5|Hereditary cancer-predisposing syndrome|not provided|Pheochromocytoma/paraganglioma syndrome 5
★★☆☆2026→ Residue 1
NM_004168.4(SDHA):c.1526_1527delinsGA (p.Ser509Ter)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Mitochondrial complex II deficiency, nuclear type 1;Pheochromocytoma/paraganglioma syndrome 5|Dilated cardiomyopathy 1GG|Pheochromocytoma/paraganglioma syndrome 5|SDHA-related disorder
★★☆☆2026→ Residue 509
NM_004168.4(SDHA):c.628C>T (p.Arg210Ter)Pathogenic
Pheochromocytoma/paraganglioma syndrome 5;Mitochondrial complex II deficiency, nuclear type 1|Hereditary cancer-predisposing syndrome|Gastrointestinal stromal tumor|Dilated cardiomyopathy 1GG|Pheochromocytoma/paraganglioma syndrome 5|not provided
★★☆☆2026→ Residue 210
NM_004168.4(SDHA):c.667del (p.Asp223fs)Pathogenic
Hereditary cancer-predisposing syndrome|Mitochondrial complex II deficiency, nuclear type 1;Pheochromocytoma/paraganglioma syndrome 5|not provided|Dilated cardiomyopathy 1GG|Pheochromocytoma/paraganglioma syndrome 5|SDHA-related disorder|Neurodegeneration with ataxia and late-onset optic atrophy
★★☆☆2026→ Residue 223
NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer)Pathogenic
Pheochromocytoma/paraganglioma syndrome 5;Mitochondrial complex II deficiency, nuclear type 1|Hereditary cancer-predisposing syndrome|not provided|Dilated cardiomyopathy 1GG|SDHA-related disorder|Pheochromocytoma/paraganglioma syndrome 5|Leigh syndrome
★★☆☆2026→ Residue 126
NM_004168.4(SDHA):c.1316G>A (p.Gly439Glu)Likely pathogenic
Pheochromocytoma/paraganglioma syndrome 5;Mitochondrial complex II deficiency, nuclear type 1|Hereditary cancer-predisposing syndrome
★★☆☆2026→ Residue 439
NM_004168.4(SDHA):c.2T>C (p.Met1Thr)Pathogenic
Mitochondrial complex II deficiency, nuclear type 1;Pheochromocytoma/paraganglioma syndrome 5|Pheochromocytoma/paraganglioma syndrome 5|Hereditary cancer-predisposing syndrome|not provided|Mitochondrial complex II deficiency, nuclear type 1;Dilated cardiomyopathy 1GG
★★☆☆2026→ Residue 1
NM_004168.4(SDHA):c.1765C>G (p.Arg589Gly)Likely pathogenic
Mitochondrial complex II deficiency, nuclear type 1;Pheochromocytoma/paraganglioma syndrome 5|Hereditary cancer-predisposing syndrome
★★☆☆2026→ Residue 589
NM_004168.4(SDHA):c.596_599del (p.Ser199fs)Pathogenic
Pheochromocytoma/paraganglioma syndrome 5|Mitochondrial complex II deficiency, nuclear type 1;Pheochromocytoma/paraganglioma syndrome 5
★★☆☆2026→ Residue 199
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp)Pathogenic
Pheochromocytoma/paraganglioma syndrome 5|Hereditary cancer-predisposing syndrome|Mitochondrial complex II deficiency, nuclear type 1;Pheochromocytoma/paraganglioma syndrome 5|Gastrointestinal stromal tumor|not provided|Dilated cardiomyopathy 1GG
★★☆☆2026→ Residue 589
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)Pathogenic
Pheochromocytoma/paraganglioma syndrome 5|not provided|Hereditary cancer-predisposing syndrome|Mitochondrial complex II deficiency, nuclear type 1;Pheochromocytoma/paraganglioma syndrome 5|Opsoclonus-myoclonus syndrome|Neurodegeneration with ataxia and late-onset optic atrophy;Mitochondrial complex II deficiency, nuclear type 1;Dilated cardiomyopathy 1GG;Pheochromocytoma/paraganglioma syndrome 5|Hereditary pheochromocytoma and paraganglioma|Dilated cardiomyopathy 1GG
★★☆☆2026→ Residue 512
NM_004168.4(SDHA):c.1054C>T (p.Arg352Ter)Pathogenic
Mitochondrial complex II deficiency, nuclear type 1;Pheochromocytoma/paraganglioma syndrome 5|Hereditary cancer-predisposing syndrome|Mitochondrial complex II deficiency, nuclear type 1|Pheochromocytoma/paraganglioma syndrome 5
★★☆☆2026→ Residue 352
NM_004168.4(SDHA):c.862C>T (p.Gln288Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Pheochromocytoma/paraganglioma syndrome 5|Pheochromocytoma/paraganglioma syndrome 5;Mitochondrial complex II deficiency, nuclear type 1
★★☆☆2026→ Residue 288
NM_004168.4(SDHA):c.786del (p.Tyr263fs)Pathogenic
not provided|Mitochondrial complex II deficiency, nuclear type 1;Pheochromocytoma/paraganglioma syndrome 5|Hereditary cancer-predisposing syndrome|Pheochromocytoma/paraganglioma syndrome 5
★★☆☆2026→ Residue 263
NM_004168.4(SDHA):c.688del (p.Glu230fs)Pathogenic
Pheochromocytoma/paraganglioma syndrome 5;Mitochondrial complex II deficiency, nuclear type 1|Hereditary cancer-predisposing syndrome|Pheochromocytoma/paraganglioma syndrome 5|not provided|Dilated cardiomyopathy 1GG;Pheochromocytoma/paraganglioma syndrome 5;Mitochondrial complex II deficiency, nuclear type 1;Neurodegeneration with ataxia and late-onset optic atrophy|Dilated cardiomyopathy 1GG|SDHA-related disorder
★★☆☆2025→ Residue 230
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)Pathogenic
Pheochromocytoma/paraganglioma syndrome 5|Hereditary cancer-predisposing syndrome|Mitochondrial complex II deficiency, nuclear type 1;Pheochromocytoma/paraganglioma syndrome 5|not provided|Leigh syndrome;Mitochondrial complex II deficiency, nuclear type 1;Dilated cardiomyopathy 1GG;Pheochromocytoma/paraganglioma syndrome 5|Neurodegeneration with ataxia and late-onset optic atrophy|Dilated cardiomyopathy 1GG|Mitochondrial complex II deficiency, nuclear type 1;Dilated cardiomyopathy 1GG;Neurodegeneration with ataxia and late-onset optic atrophy;Pheochromocytoma/paraganglioma syndrome 5
★★☆☆2025→ Residue 585
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter)Pathogenic
Pheochromocytoma/paraganglioma syndrome 5|not provided|Hereditary cancer-predisposing syndrome|Mitochondrial complex II deficiency, nuclear type 1;Pheochromocytoma/paraganglioma syndrome 5|Dilated cardiomyopathy 1GG|Dilated cardiomyopathy 1GG;Mitochondrial complex II deficiency, nuclear type 1;Neurodegeneration with ataxia and late-onset optic atrophy;Pheochromocytoma/paraganglioma syndrome 5
★★☆☆2025→ Residue 75
NM_004168.4(SDHA):c.1260+2T>ALikely pathogenic
Mitochondrial complex II deficiency, nuclear type 1;Pheochromocytoma/paraganglioma syndrome 5|not provided
★★☆☆2025
NM_004168.4(SDHA):c.553C>T (p.Gln185Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Mitochondrial complex II deficiency, nuclear type 1;Pheochromocytoma/paraganglioma syndrome 5|Dilated cardiomyopathy 1GG|not provided|Pheochromocytoma/paraganglioma syndrome 5
★★☆☆2025→ Residue 185