ClinVar Miner

List of variants in gene combination LOC107303340, VHL reported as pathogenic for benign endocrine neoplasm

Included ClinVar conditions (23):

Adenoma of the adrenal gland
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
Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3
Charcot-Marie-Tooth disease, type 2A1; Neuroblastoma; Pheochromocytoma
Congenital central hypoventilation; Hirschsprung disease 1; Multiple endocrine neoplasia, type 2b; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia, type 2a
Congenital central hypoventilation; Hirschsprung disease 1; Multiple endocrine neoplasia, type 2b; Pheochromocytoma; Renal hypodysplasia/aplasia 1; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia, type 2a
Diabetes mellitus type 1; Diabetes mellitus, insulin-dependent, 20; Maturity-onset diabetes of the young, type 3; Type 2 diabetes mellitus; Hepatic adenomas, familial; Renal cell carcinoma, nonpapillary
Erythrocytosis, familial, 2; Pheochromocytoma; Von Hippel-Lindau syndrome; Renal cell carcinoma, nonpapillary
Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Paragangliomas 4; Pheochromocytoma; Cowden syndrome 1
Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma
Gastrointestinal stromal tumor; Parathyroid adenoma; Thyroid adenoma (disease); Chronic diarrhea; Diabetes mellitus; Hypertensive disorder
Hepatic adenomas, familial
Parathyroid adenoma
Parathyroid adenoma; Hypercalcemia; Hypertrophic cardiomyopathy; Hypocalciuria
Pheochromocytoma
Pheochromocytoma; Hereditary Paraganglioma-Pheochromocytoma Syndromes
Pheochromocytoma; Paraganglioma
Pheochromocytoma; Paragangliomas 1
Primary hyperparathyroidism; Medullary thyroid carcinoma; Parathyroid adenoma; Calcium nephrolithiasis; Pancreatic insulin-producing neuroendocrine tumor; Abnormal concentration of calcium in blood

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: 2

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HGVS	dbSNP
NM_000551.3(VHL):c.499C>T (p.Arg167Trp)	rs5030820
NM_000551.4(VHL):c.562C>G (p.Leu188Val)	rs5030824

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