ClinVar Miner

List of variants studied for thyroid gland carcinoma by Genome-Nilou Lab

Included ClinVar conditions (38):

Bamforth-Lazarus syndrome; Thyroid cancer, nonmedullary, 4
Benign hereditary chorea; Brain-lung-thyroid syndrome; Thyroid cancer, nonmedullary, 1
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
Endometrial carcinoma; Macrocephaly-autism syndrome; Familial meningioma; Squamous cell carcinoma of the head and neck; Bannayan-Riley-Ruvalcaba syndrome; Malignant tumor of prostate; Thyroid cancer, nonmedullary, 2; VACTERL with hydrocephalus; Glioma susceptibility 2; Cowden syndrome 1; Melanoma, cutaneous malignant, susceptibility to, 1
Familial cancer of breast; Classic Hodgkin lymphoma; Ovarian neoplasm; Thyroid cancer, nonmedullary, 1
Familial medullary thyroid carcinoma
Familial medullary thyroid carcinoma; Multiple endocrine neoplasia
Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma; Multiple endocrine neoplasia, type 2
Hereditary insensitivity to pain with anhidrosis; Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1; Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Multiple endocrine neoplasia type 2A
Hirschsprung disease, susceptibility to, 1; Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A
Hurthle cell carcinoma of thyroid
Large congenital melanocytic nevus; Linear nevus sebaceous syndrome; Malignant tumor of urinary bladder; Costello syndrome; Epidermal nevus; Thyroid cancer, nonmedullary, 2
Large congenital melanocytic nevus; Neurocutaneous melanocytosis; Linear nevus sebaceous syndrome; Epidermal nevus; Thyroid cancer, nonmedullary, 2; Noonan syndrome 6; Autoimmune lymphoproliferative syndrome type 4; Colorectal cancer
Medullary thyroid carcinoma
Medullary thyroid carcinoma; Multiple endocrine neoplasia II
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 2B; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B; 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
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia, type 2; Hirschsprung disease
Papillary thyroid carcinoma
Pheochromocytoma; Familial medullary thyroid carcinoma
Primary hyperparathyroidism; Medullary thyroid carcinoma; Parathyroid gland adenoma; Calcium nephrolithiasis; Pancreatic insulin-producing neuroendocrine tumor; Abnormal circulating calcium concentration
Thrombophilia due to thrombin defect; Thyroid cancer, nonmedullary, 5
Thyroid cancer, nonmedullary, 1
Thyroid cancer, nonmedullary, 2
Thyroid cancer, nonmedullary, 4
Thyroid cancer, nonmedullary, 5
Thyroid gland carcinoma
Thyroid gland undifferentiated (anaplastic) carcinoma

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

Total variants: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020975.6(RET):c.3187+47T>C	rs2075912	0.84041
NM_020975.6(RET):c.2307G>T (p.Leu769=)	rs1800861	0.79547
NM_020975.6(RET):c.135A>G (p.Ala45=)	rs1800858	0.79274
NM_020975.6(RET):c.1296A>G (p.Ala432=)	rs1800860	0.74268
NM_020975.6(RET):c.867+48A>G	rs2435352	0.37996

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.