ClinVar Miner

List of variants studied for benign endocrine neoplasm by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (35):

Adrenocortical adenoma
Aldosterone-producing adrenal cortex adenoma
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 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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003002.4(SDHD):c.33C>A (p.Cys11Ter)	rs104894309
NM_017849.4(TMEM127):c.208del (p.Asp70fs)
NM_017849.4(TMEM127):c.410-1G>C

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