Gene entry
SDHD
succinate dehydrogenase complex subunit D
- Chromosome
- 11
- Cytoband
- 11q23.1
- Variants (rsID)
- 33
SDHD is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11q23.1). Its official name is “succinate dehydrogenase complex subunit D”. The reference table lists 33 variants (rsID) for this gene.
Clinically classified variants
31 reference-table entries with clinical significance.
- rs11214077Benignsingle nucleotide variantCarcinoid tumor of intestine|Pheochromocytoma|Hereditary cancer-predisposing syndrome|Paragangliomas 1|Carney-Stratakis syndrome|Cowden syndrome 3|Paragangliomas with sensorineural hearing loss|Pheochromocytoma|Carney-Stratakis syndrome
- rs192332761Conflicting interpretationssingle nucleotide variantHereditary pheochromocytoma-paraganglioma|Hereditary cancer-predisposing syndrome|Pheochromocytoma|Carney-Stratakis syndrome|Paragangliomas with sensorineural hearing loss|Cowden syndrome 3|Paragangliomas 1
- rs201372601Conflicting interpretationssingle nucleotide variantMitochondrial complex 2 deficiency, nuclear type 3|Hereditary pheochromocytoma-paraganglioma|Hereditary cancer-predisposing syndrome|Pheochromocytoma|Paragangliomas with sensorineural hearing loss|Carney-Stratakis syndrome|Cowden syndrome 3
- rs202198133Conflicting interpretationssingle nucleotide variantMitochondrial complex 2 deficiency, nuclear type 3|Cowden syndrome 3|Carney-Stratakis syndrome|Pheochromocytoma|Paragangliomas 1|Mitochondrial complex II deficiency, nuclear type 1
- rs34677591Conflicting interpretationssingle nucleotide variantCowden syndrome 3|Paragangliomas 1|Pheochromocytoma|Hereditary cancer-predisposing syndrome|Carney-Stratakis syndrome|Mitochondrial complex 2 deficiency, nuclear type 3|Cowden syndrome 3|Paragangliomas with sensorineural hearing loss|Pheochromocytoma|Carney-Stratakis syndrome
- rs587776644Likely pathogenicsingle nucleotide variantParagangliomas 1|Pheochromocytoma
- rs876659276Likely pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome
- rs104894302Pathogenicsingle nucleotide variantParagangliomas 1|Hereditary cancer-predisposing syndrome|Cowden syndrome 3|Paragangliomas with sensorineural hearing loss|Pheochromocytoma|Carney-Stratakis syndrome
- rs104894303Pathogenicsingle nucleotide variantParagangliomas 1|Hereditary cancer-predisposing syndrome|Cowden syndrome 3|Pheochromocytoma|Carney-Stratakis syndrome|Paragangliomas with sensorineural hearing loss
- rs104894304Pathogenicsingle nucleotide variantParagangliomas 1|Hereditary pheochromocytoma-paraganglioma|Hereditary cancer-predisposing syndrome|Cowden syndrome 3|Paragangliomas with sensorineural hearing loss|Pheochromocytoma|Carney-Stratakis syndrome
- rs104894306Pathogenicsingle nucleotide variantParagangliomas 1|Pheochromocytoma|Hereditary cancer-predisposing syndrome|Cowden syndrome 3|Paragangliomas with sensorineural hearing loss|Pheochromocytoma|Carney-Stratakis syndrome
- rs104894307Pathogenicsingle nucleotide variantCarotid body paraganglioma|Cowden syndrome 3|Paragangliomas with sensorineural hearing loss|Pheochromocytoma|Carney-Stratakis syndrome
- rs104894308Pathogenicsingle nucleotide variantParagangliomas 1|Hereditary cancer-predisposing syndrome|Paragangliomas 1|Cowden syndrome 3|Pheochromocytoma|Carney-Stratakis syndrome
- rs104894309Pathogenicsingle nucleotide variantPheochromocytoma|Hereditary cancer-predisposing syndrome|Cowden syndrome 3|Paragangliomas with sensorineural hearing loss|Pheochromocytoma|Carney-Stratakis syndrome|Paragangliomas 1
- rs104894310Pathogenicsingle nucleotide variantPheochromocytoma|Pheochromocytoma|Cowden syndrome 3|Carney-Stratakis syndrome|Paragangliomas with sensorineural hearing loss
- rs1060503769Pathogenicsingle nucleotide variantPheochromocytoma|Paragangliomas 1|Paragangliomas with sensorineural hearing loss|Carney-Stratakis syndrome|Pheochromocytoma|Cowden syndrome 3
- rs1060503770Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Paragangliomas with sensorineural hearing loss|Carney-Stratakis syndrome|Pheochromocytoma|Cowden syndrome 3
- rs1060503773PathogenicDeletionPheochromocytoma|Paragangliomas 1|Hereditary cancer-predisposing syndrome|Paragangliomas with sensorineural hearing loss|Carney-Stratakis syndrome|Pheochromocytoma|Cowden syndrome 3
- rs121908983PathogenicDeletionParagangliomas 1
- rs587776649PathogenicDeletionCarney-Stratakis syndrome|Hereditary cancer-predisposing syndrome|Hereditary pheochromocytoma-paraganglioma|Paragangliomas 1|Cowden syndrome 3|Carney-Stratakis syndrome|Pheochromocytoma
- rs587782210Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Pheochromocytoma|Paragangliomas 1|Carney-Stratakis syndrome|Cowden syndrome 3
- rs786202403Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Carney-Stratakis syndrome|Paragangliomas with sensorineural hearing loss|Cowden syndrome 3|Pheochromocytoma
- rs786205436Pathogenicsingle nucleotide variantMitochondrial complex 2 deficiency, nuclear type 3|Fatal infantile mitochondrial cardiomyopathy
- rs80338842Pathogenicsingle nucleotide variantParagangliomas 1|Hereditary pheochromocytoma-paraganglioma|Hereditary cancer-predisposing syndrome|Cowden syndrome 3|Paragangliomas with sensorineural hearing loss|Pheochromocytoma|Carney-Stratakis syndrome
- rs80338843Pathogenicsingle nucleotide variantParagangliomas 1|Pheochromocytoma|Hereditary pheochromocytoma-paraganglioma|Hereditary cancer-predisposing syndrome|Cowden syndrome 3|Paragangliomas with sensorineural hearing loss|Pheochromocytoma|Carney-Stratakis syndrome
- rs80338844Pathogenicsingle nucleotide variantPheochromocytoma|Paragangliomas 1|Hereditary pheochromocytoma-paraganglioma|Paragangliomas 1 with sensorineural hearing loss|Hereditary cancer-predisposing syndrome|Mitochondrial complex II deficiency, nuclear type 1|Paragangliomas 1|Pheochromocytoma|Carney-Stratakis syndrome|Mitochondrial complex II deficiency, nuclear type 1|Cowden syndrome 3|Paragangliomas with sensorineural hearing loss|Pheochromocytoma|Carney-Stratakis syndrome
- rs80338846Pathogenicsingle nucleotide variantHereditary pheochromocytoma-paraganglioma
- rs878854589PathogenicDuplicationParagangliomas 1|Pheochromocytoma|Carney-Stratakis syndrome|Paragangliomas with sensorineural hearing loss|Pheochromocytoma|Carney-Stratakis syndrome|Cowden syndrome 3
- rs878854594Pathogenicsingle nucleotide variantParagangliomas with sensorineural hearing loss|Pheochromocytoma|Carney-Stratakis syndrome|Cowden syndrome 3|Pheochromocytoma
- rs587776647Uncertain significanceDeletionParagangliomas 1|Hereditary cancer-predisposing syndrome
- rs765102002Uncertain significancesingle nucleotide variantCarney-Stratakis syndrome|Pheochromocytoma|Paragangliomas 1|Cowden syndrome 3
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.
