ClinVar Miner

List of variants reported as likely benign for Cowden disease by Mendelics

Included ClinVar conditions (29):

Autism; Bannayan-Riley-Ruvalcaba syndrome; PTEN hamartoma tumor syndrome; Macrocephaly
Bannayan-Riley-Ruvalcaba syndrome; PTEN hamartoma tumor syndrome; Cowden syndrome
Bannayan-Riley-Ruvalcaba syndrome; PTEN hamartoma tumor syndrome; Cowden syndrome 1
Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3
Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrome 3
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; 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; Megalencephaly-capillary malformation-polymicrogyria syndrome; Congenital macrodactylia; Seborrheic keratosis; Epidermal nevus; Neoplasm of ovary; CLAPO syndrome; CLOVES syndrome; Cowden syndrome 5; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Lung cancer
Familial cancer of breast; Megalencephaly-capillary malformation-polymicrogyria syndrome; Lung carcinoma; Congenital macrodactylia; Seborrheic keratosis; Epidermal nevus; Neoplasm of ovary; CLAPO syndrome; CLOVES syndrome; Carcinoma of colon; Neoplasm of stomach; Cowden syndrome 5; Hepatocellular carcinoma
Familial cancer of breast; Proteus syndrome; Neoplasm of ovary; Cowden syndrome 6; Colorectal cancer
Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Paragangliomas 4; Pheochromocytoma; Cowden syndrome 1
Lhermitte-Duclos disease
Macrocephaly-autism syndrome; Bannayan-Riley-Ruvalcaba syndrome; Cowden syndrome 1
Macrocephaly-autism syndrome; Bannayan-Riley-Ruvalcaba syndrome; PTEN hamartoma tumor syndrome
Macrocephaly-autism syndrome; Bannayan-Riley-Ruvalcaba syndrome; PTEN hamartoma tumor syndrome; Cowden syndrome
Macrocephaly-autism syndrome; Bannayan-Riley-Ruvalcaba syndrome; Proteus-like syndrome; PTEN hamartoma tumor syndrome; Cowden syndrome
Macrocephaly-autism syndrome; Cowden syndrome
Macrocephaly-autism syndrome; Cowden syndrome 1
Macrocephaly-autism syndrome; Familial meningioma; Malignant tumor of prostate; Glioma susceptibility 2; Cowden syndrome 1
Macrocephaly-autism syndrome; Familial meningioma; Malignant tumor of prostate; VACTERL with hydrocephalus; Glioma susceptibility 2; PTEN hamartoma tumor syndrome; Cowden syndrome 1
Macrocephaly-autism syndrome; VACTERL with hydrocephalus; Cowden syndrome 1
PTEN hamartoma tumor syndrome

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_001126049.2(KLLN):c.-956G>T	rs34149102	0.00683
NM_006218.4(PIK3CA):c.-138C>T	rs149946088	0.00383
NM_006218.4(PIK3CA):c.1146-30G>A	rs8192676	0.00308
NM_000314.8(PTEN):c.254-34T>G	rs34047313	0.00200
NM_000314.8(PTEN):c.209+84G>A	rs185262832	0.00199
NM_006218.4(PIK3CA):c.1747-9C>T	rs201779641	0.00046
NM_000314.8(PTEN):c.802-34C>A	rs531071483	0.00039
NM_006218.4(PIK3CA):c.168C>T (p.Tyr56=)	rs200868796	0.00011
NM_000314.8(PTEN):c.-280C>T	rs571072832	0.00002
NM_006218.4(PIK3CA):c.1767T>C (p.Asp589=)	rs199540873	0.00002
NM_006218.4(PIK3CA):c.2418T>C (p.Asp806=)	rs199693043	0.00002
NM_000314.8(PTEN):c.492+31T>C	rs1320105617	0.00001
NM_001382430.1(AKT1):c.1172+4A>C	rs1319947920	0.00001
NM_006218.4(PIK3CA):c.1060-9T>C	rs750875731	0.00001
NM_000314.8(PTEN):c.3448_3463dup	rs763859619
NM_000314.8(PTEN):c.3449_3463dup	rs763859619
NM_000314.8(PTEN):c.-802G>A	rs876661166
NM_000314.8(PTEN):c.210-7_210-3del	rs587780544
NM_000314.8(PTEN):c.493-27G>T	rs1589659262
NM_000314.8(PTEN):c.802-5_802-3dup	rs34003473
NM_006218.4(PIK3CA):c.1743C>T (p.Ala581=)	rs370692448

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