ClinVar Miner

List of variants studied for hereditary pheochromocytoma-paraganglioma by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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
		ClinVar version:

Total variants: 28

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)	rs748089700	0.00005
NM_003000.3(SDHB):c.136C>T (p.Arg46Ter)	rs74315370	0.00003
NM_003001.5(SDHC):c.43C>T (p.Arg15Ter)	rs201286421	0.00002
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln)	rs772551056	0.00001
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter)	rs74315366	0.00001
NM_003000.3(SDHB):c.343C>T (p.Arg115Ter)	rs751000085	0.00001
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser)	rs786201095	0.00001
NM_003000.3(SDHB):c.600G>T (p.Trp200Cys)	rs397516836	0.00001
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys)	rs587778661	0.00001
NM_003001.5(SDHC):c.380A>G (p.His127Arg)	rs786203457	0.00001
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter)	rs764575966	0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)	rs80338844	0.00001
NM_003000.3(SDHB):c.260T>C (p.Leu87Ser)	rs727504457
NM_003000.3(SDHB):c.287-1G>C	rs397516833
NM_003000.3(SDHB):c.445_446insTATGG (p.Gln149fs)	rs1553177688
NM_003000.3(SDHB):c.541-1G>T	rs1570945961
NM_003000.3(SDHB):c.600G>A (p.Trp200Ter)	rs397516836
NM_003000.3(SDHB):c.641A>G (p.Gln214Arg)	rs781590955
NM_003000.3(SDHB):c.73-2A>T	rs1474282888
NM_003000.3(SDHB):c.81del (p.Gly28fs)
NM_003001.5(SDHC):c.21-3_22del	rs1553261757
NM_003002.3(SDHD):c.(?_286)_(387_?)del
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter)	rs80338843
NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys)	rs104894304
NM_003002.4(SDHD):c.3G>C (p.Met1Ile)	rs80338842
NM_004168.4(SDHA):c.1631_1647del (p.Gly544fs)
NM_017841.4(SDHAF2):c.305_306insA (p.Asn103fs)	rs753554501
NM_017849.4(TMEM127):c.308del (p.Gly103fs)	rs727503490

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