ClinVar Miner

List of variants reported as uncertain significance for PTEN hamartoma tumor syndrome by Fulgent Genetics, Fulgent Genetics

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_000314.8(PTEN):c.-666G>A	rs553371022	0.00069
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu)	rs371387815	0.00009
NM_001126049.2(KLLN):c.-1039G>A	rs587779999	0.00004
NM_000314.8(PTEN):c.-765G>A	rs587776674	0.00002
NM_000314.6(PTEN):c.-868G>C	rs587782133
NM_000314.8(PTEN):c.-822G>T	rs587779993
NM_000314.8(PTEN):c.862G>A (p.Glu288Lys)	rs1554825528
NM_000314.8(PTEN):c.914G>A (p.Ser305Asn)	rs587780007
NM_001126049.2(KLLN):c.-736G>C	rs1554889801
NM_001126049.2(KLLN):c.-828C>T	rs786203674

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