ClinVar Miner

List of variants studied for Cowden disease by Baylor Genetics

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

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

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006363.6(SEC23B):c.74C>A (p.Pro25His)	rs6045440	0.00050
NM_006363.6(SEC23B):c.222-78C>T	rs150393520	0.00026
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys)	rs121913293	0.00001
GRCh37/hg19 10q23.31(chr10:89653441-89654197)
NM_000314.8(PTEN):c.-17G>C	rs1064793744
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)	rs121909231
NM_000314.8(PTEN):c.203A>G (p.Tyr68Cys)	rs876660634
NM_000314.8(PTEN):c.263_264del (p.Tyr88fs)	rs1859964600
NM_000314.8(PTEN):c.367C>G (p.His123Asp)	rs786204931
NM_000314.8(PTEN):c.700C>T (p.Arg234Trp)	rs786201730
NM_001382430.1(AKT1):c.1351C>T (p.Pro451Ser)	rs1892340313
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met)	rs1057519942
NM_006218.4(PIK3CA):c.1610G>A (p.Arg537Gln)	rs1724887307
NM_006218.4(PIK3CA):c.1873G>A (p.Asp625Asn)
NM_006218.4(PIK3CA):c.331A>G (p.Lys111Glu)	rs1057519933
NM_006363.6(SEC23B):c.574A>C (p.Thr192Pro)	rs2060118203

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