ClinVar Miner

List of variants reported as not provided for PTEN hamartoma tumor syndrome

Included ClinVar conditions (14):

Autism; Bannayan-Riley-Ruvalcaba syndrome; PTEN hamartoma tumor syndrome; Macrocephaly
Bannayan-Riley-Ruvalcaba syndrome
Bannayan-Riley-Ruvalcaba syndrome; PTEN hamartoma tumor syndrome; Cowden syndrome
Bannayan-Riley-Ruvalcaba syndrome; PTEN hamartoma tumor syndrome; Cowden syndrome 1
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; Proteus syndrome; Neoplasm of ovary; Cowden syndrome 6; Colorectal cancer
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; Familial meningioma; Malignant tumor of prostate; VACTERL with hydrocephalus; Glioma susceptibility 2; PTEN hamartoma tumor syndrome; Cowden syndrome 1
PTEN hamartoma tumor syndrome
Proteus syndrome
Proteus-like syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000314.8(PTEN):c.-687G>A
NM_000314.8(PTEN):c.-844T>C	rs587779995
NM_000314.8(PTEN):c.165-1G>C	rs786203847
NM_000314.8(PTEN):c.21G>C (p.Glu7Asp)	rs1554890337
NM_000314.8(PTEN):c.302T>C (p.Ile101Thr)	rs1339631701
NM_000314.8(PTEN):c.377C>T (p.Ala126Val)	rs1114167656
NM_000314.8(PTEN):c.548dup (p.Asn184fs)	rs1554900593
NM_000314.8(PTEN):c.634+3_634+7delinsTCTCATCCTTGAATTT
NM_000314.8(PTEN):c.752G>A (p.Gly251Asp)	rs1554825226
NM_000314.8(PTEN):c.924_928dup (p.Asp310fs)
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys)	rs121434592

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.