ClinVar Miner

List of variants reported as likely pathogenic for familial multiple meningioma by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (11):

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 meningioma
Familial meningioma; Coffin-Siris syndrome 5
Familial meningioma; Neurofibromatosis, type 2
Familial meningioma; Neurofibromatosis, type 2; SMARCB1-related schwannomatosis
Familial multiple meningioma
Gorlin syndrome; Medulloblastoma; Familial meningioma; Joubert syndrome 32
Macrocephaly-autism syndrome; Familial meningioma; Glioma susceptibility 2; Familial prostate cancer; 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
Medulloblastoma; Familial meningioma; Joubert syndrome 32; Basal cell nevus syndrome 2

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_000314.8(PTEN):c.212G>A (p.Cys71Tyr)	rs1554897856
NM_000314.8(PTEN):c.764T>G (p.Val255Gly)
NM_000314.8(PTEN):c.823del (p.Trp274_Val275insTer)	rs1860617439

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