ClinVar Miner

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

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

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)
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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)	rs28940298	0.00009
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_000551.4(VHL):c.464-2A>G	rs5030816
NM_000551.4(VHL):c.482G>A (p.Arg161Gln)	rs730882035
NM_000551.4(VHL):c.500G>A (p.Arg167Gln)	rs5030821
NM_000551.4(VHL):c.506_509delinsCG (p.Leu169fs)

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