ClinVar Miner

List of variants in gene SRGAP1 reported as uncertain significance for differentiated thyroid carcinoma

Included ClinVar conditions (27):

Bamforth-Lazarus syndrome; Thyroid cancer, nonmedullary, 4
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 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 2B; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A
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

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	gnomAD frequency
NM_020762.4(SRGAP1):c.182C>T (p.Thr61Met)	rs778174499	0.00009
NM_020762.4(SRGAP1):c.731_732insAG (p.Leu245fs)	rs2035064004

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