ClinVar Miner

List of variants reported as likely benign for PTEN hamartoma tumor syndrome by Mendelics

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

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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001126049.2(KLLN):c.-956G>T	rs34149102	0.00683
NM_000314.8(PTEN):c.254-34T>G	rs34047313	0.00200
NM_000314.8(PTEN):c.209+84G>A	rs185262832	0.00199
NM_000314.8(PTEN):c.802-34C>A	rs531071483	0.00039
NM_000314.8(PTEN):c.-280C>T	rs571072832	0.00002
NM_000314.8(PTEN):c.492+31T>C	rs1320105617	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

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