ClinVar Miner

List of variants reported as benign for PTEN hamartoma tumor syndrome by ClinGen PTEN Variant Curation Expert Panel

Included ClinVar conditions (20):

Bannayan-Riley-Ruvalcaba syndrome
Congenital dyserythropoietic anemia, type II; Cowden syndrome 7
Cowden syndrome
Cowden syndrome 1
Cowden syndrome 3
Cowden syndrome 4
Cowden syndrome 5
Cowden syndrome 6
Cowden syndrome 7
Endometrial carcinoma; Macrocephaly/autism syndrome; Meningioma, familial; Squamous cell carcinoma of the head and neck; Bannayan-Riley-Ruvalcaba syndrome; Malignant tumor of prostate; Follicular thyroid carcinoma; VACTERL association with hydrocephalus; Glioma susceptibility 2; Cowden syndrome 1; Cutaneous malignant melanoma 1
Familial cancer of breast; Megalencephaly cutis marmorata telangiectatica congenita; Lung cancer; Congenital macrodactylia; Keratosis, seborrheic; Epidermal nevus; Neoplasm of ovary; Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth; Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi; Carcinoma of colon; Neoplasm of stomach; Cowden syndrome 5; Hepatocellular carcinoma
Gastrointestinal stroma tumor; Paraganglioma and gastric stromal sarcoma; Paragangliomas 4; Pheochromocytoma; Cowden syndrome 1
Lhermitte-Duclos disease
Macrocephaly/autism syndrome; Bannayan-Riley-Ruvalcaba syndrome; Cowden syndrome 1
Macrocephaly/autism syndrome; Cowden syndrome 1
Macrocephaly/autism syndrome; Meningioma, familial; Malignant tumor of prostate; VACTERL association with hydrocephalus; Glioma susceptibility 2; PTEN hamartoma tumor syndrome; Cowden syndrome 1
Macrocephaly/autism syndrome; VACTERL association with hydrocephalus; Cowden syndrome 1
PTEN hamartoma tumor syndrome
Paraganglioma and gastric stromal sarcoma; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3
Proteus syndrome

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Total variants: 7

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HGVS	dbSNP
NM_000314.6(PTEN):c.-1059C>G	rs144620057
NM_000314.6(PTEN):c.-903G>A	rs1044322
NM_000314.7(PTEN):c.-9C>G	rs11202592
NM_000314.7(PTEN):c.1026+32T>G	rs555895
NM_000314.7(PTEN):c.210-7_210-3del	rs587780544
NM_000314.7(PTEN):c.79+35C>T	rs190707033
NM_001126049.1(KLLN):c.-671A>G	rs70937047

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