ClinVar Miner

List of variants reported as likely benign for PTEN hamartoma tumor syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (16):

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
Cowden syndrome; Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
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; Ovarian cancer; Cowden syndrome 6; Colorectal cancer
Familial cancer of breast; Proteus syndrome; Ovarian neoplasm; 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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000314.8(PTEN):c.*1745G>A	rs116248217	0.00644
NM_000314.8(PTEN):c.132C>T (p.Gly44=)	rs150651961	0.00168
NM_000314.8(PTEN):c.*421T>C	rs141648241	0.00051
NM_000314.8(PTEN):c.234C>T (p.Thr78=)	rs35917308	0.00016
NM_000314.8(PTEN):c.*601A>G	rs371547288	0.00008
NM_000314.8(PTEN):c.855A>G (p.Glu285=)	rs751888926	0.00003
NM_000314.6(PTEN):c.-1027C>A	rs587781128
NM_000314.8(PTEN):c.*1131del	rs547262170
NM_000314.8(PTEN):c.*666dup	rs543873570
NM_000314.8(PTEN):c.-534G>T	rs886047385
NM_000314.8(PTEN):c.-675C>T	rs876661258

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