ClinVar Miner

List of variants in gene SDHAF2 reported as pathogenic for hereditary pheochromocytoma-paraganglioma

Included ClinVar conditions (38):

Autism; Pheochromocytoma; Global developmental delay; Hypospadias; Tall stature; Paraganglioma
Carney-Stratakis syndrome; Paragangliomas 4; Pheochromocytoma
Carney-Stratakis syndrome; Pheochromocytoma; Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 1
Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1
Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3
Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Mitochondrial complex 2 deficiency, nuclear type 3
Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrome 3
Charcot-Marie-Tooth disease type 1B; Variegate porphyria; Migraine, familial hemiplegic, 2; Paragangliomas 3
Charcot-Marie-Tooth disease type 2A1; Neuroblastoma; Pheochromocytoma
Charcot-Marie-Tooth disease type 2A1; Pheochromocytoma; Neuroblastoma, susceptibility to, 1
Chuvash polycythemia; Pheochromocytoma; Von Hippel-Lindau syndrome; Nonpapillary renal cell carcinoma
Congenital central hypoventilation; Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A
Congenital central hypoventilation; Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Renal hypodysplasia/aplasia 1; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A
Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Paragangliomas 3
Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Paragangliomas 4; Pheochromocytoma; Cowden syndrome 1
Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Paragangliomas 4; Pheochromocytoma; Mitochondrial complex 2 deficiency, nuclear type 4
Gastrointestinal stromal tumor; Hereditary pheochromocytoma-paraganglioma
Gastrointestinal stromal tumor; Mitochondrial complex II deficiency, nuclear type 1; Hereditary pheochromocytoma-paraganglioma; Paragangliomas 5
Gastrointestinal stromal tumor; Paragangliomas 3
Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma
Hereditary pheochromocytoma-paraganglioma
Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A
Leigh syndrome; Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Paragangliomas 5
Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Paragangliomas 5
Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Paragangliomas 5; Neurodegeneration with ataxia and late-onset optic atrophy
Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5
Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B; Pheochromocytoma; Multiple endocrine neoplasia type 2A
Paragangliomas 1
Paragangliomas 2
Paragangliomas 3
Paragangliomas 4
Paragangliomas 4; Pheochromocytoma
Paragangliomas 5
Pheochromocytoma
Pheochromocytoma; Familial medullary thyroid carcinoma
Pheochromocytoma; Paraganglioma
Pheochromocytoma; Paragangliomas 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_017841.4(SDHAF2):c.165G>A (p.Trp55Ter)	rs774508076	0.00002
NM_017841.4(SDHAF2):c.29del (p.Ser10fs)	rs1339037960	0.00001
NM_017841.4(SDHAF2):c.37-2A>G	rs1344681005	0.00001
NC_000011.9:g.(?_61205087)_(61213543_?)del
NM_017841.4(SDHAF2):c.124del (p.Asp42fs)	rs2134892263
NM_017841.4(SDHAF2):c.130C>T (p.Gln44Ter)	rs2134892271
NM_017841.4(SDHAF2):c.177dup (p.Asp60Ter)	rs1554984631
NM_017841.4(SDHAF2):c.199del (p.Arg67fs)	rs949388785
NM_017841.4(SDHAF2):c.216T>A (p.Tyr72Ter)	rs778397152
NM_017841.4(SDHAF2):c.229_230del (p.Arg77fs)	rs1336819076
NM_017841.4(SDHAF2):c.232G>A (p.Gly78Arg)	rs113560320
NM_017841.4(SDHAF2):c.23C>A (p.Ser8Ter)	rs1254052531
NM_017841.4(SDHAF2):c.267del (p.Phe89fs)	rs766035180
NM_017841.4(SDHAF2):c.283C>T (p.Gln95Ter)
NM_017841.4(SDHAF2):c.28del (p.Ser10fs)	rs1861838658
NM_017841.4(SDHAF2):c.295_296del (p.Glu99fs)
NM_017841.4(SDHAF2):c.305_306insA (p.Asn103fs)	rs753554501
NM_017841.4(SDHAF2):c.315T>A (p.Tyr105Ter)	rs750979204
NM_017841.4(SDHAF2):c.32C>A (p.Ser11Ter)
NM_017841.4(SDHAF2):c.89C>G (p.Ser30Ter)

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