ClinVar Miner

List of variants reported as likely pathogenic for familial multiple meningioma by Solve-RD Consortium

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)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000314.8(PTEN):c.1004G>A (p.Arg335Gln)	rs1085308040
NM_000314.8(PTEN):c.356T>C (p.Val119Ala)
NM_002430.3(MN1):c.3903G>A (p.Trp1301Ter)	rs1601319501

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