ClinVar Miner

List of variants reported as pathogenic for benign endocrine neoplasm by OMIM

Included ClinVar conditions (34):

Adrenocortical adenoma
Aldosterone-producing adrenal cortex adenoma
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 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
Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus; Hepatic adenomas, familial; Nonpapillary renal cell carcinoma
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; Paragangliomas 4; Pheochromocytoma
Gastrointestinal stromal tumor; Parathyroid gland adenoma; Thyroid adenoma; Chronic diarrhea; Diabetes mellitus; Hypertensive disorder
Hepatic adenomas, familial
Hepatic hemangioma
Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A
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 4; Pheochromocytoma
Parathyroid gland adenoma
Parathyroid gland adenoma; Hypercalcemia; Hypertrophic cardiomyopathy; Hypocalciuria
Parathyroid gland adenoma; Hypophosphatemic rickets
Pheochromocytoma
Pheochromocytoma; Familial medullary thyroid carcinoma
Pheochromocytoma; Paraganglioma
Pheochromocytoma; Paragangliomas 1
Pheochromocytoma; Polydactyly-macrocephaly syndrome
Primary hyperparathyroidism; Medullary thyroid carcinoma; Parathyroid gland adenoma; Calcium nephrolithiasis; Pancreatic insulin-producing neuroendocrine tumor; Abnormal circulating calcium concentration
Thyroid adenoma

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_004897.5(MINPP1):c.933+34T>A	rs41299159	0.12000
NM_000551.4(VHL):c.562C>G (p.Leu188Val)	rs5030824	0.00004
NM_000551.4(VHL):c.499C>T (p.Arg167Trp)	rs5030820	0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)	rs80338844	0.00001
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)	rs75076352	0.00001
NM_000545.8(HNF1A):c.872dup (p.Gly292fs)	rs587776825
NM_000551.4(VHL):c.188T>C (p.Leu63Pro)	rs104893827
NM_000551.4(VHL):c.191G>C (p.Arg64Pro)	rs104893826
NM_000551.4(VHL):c.277G>A (p.Gly93Ser)	rs5030808
NM_001370259.2(MEN1):c.1654A>T (p.Thr552Ser)	rs121913035
NM_003000.3(SDHB):c.299C>T (p.Ser100Phe)	rs121917755
NM_020975.6(RET):c.1900T>G (p.Cys634Gly)	rs75076352
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)	rs75996173
NM_020975.6(RET):c.1901G>C (p.Cys634Ser)	rs75996173
NM_020975.6(RET):c.1901G>T (p.Cys634Phe)	rs75996173
NM_020975.6(RET):c.1902C>G (p.Cys634Trp)	rs77709286
NM_020975.6(RET):c.2753T>C (p.Met918Thr)	rs74799832
NM_024529.5(CDC73):c.685_688del (p.Arg229fs)	rs760591174

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