ClinVar Miner

List of variants in gene REST reported as uncertain significance for malignant mixed neoplasm

Included ClinVar conditions (20):

Aniridia 1; Drash syndrome; Frasier syndrome; Meacham syndrome; Mesothelioma, malignant; Nephrotic syndrome, type 4; Wilms tumor 1; 11p partial monosomy syndrome
Autosomal dominant nonsyndromic hearing loss 27; Wilms tumor 6; Fibromatosis, gingival, 5
Beckwith-Wiedemann syndrome; Wilms tumor 1; Silver-Russell syndrome 1; Silver-Russell syndrome 3
Drash syndrome; Frasier syndrome; Meacham syndrome; Mesothelioma, malignant; Nephrotic syndrome, type 4; Wilms tumor 1
Drash syndrome; Frasier syndrome; Nephrotic syndrome, type 4; Wilms tumor 1
Drash syndrome; Frasier syndrome; Wilms tumor 1
Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Glioma susceptibility 3; Familial prostate cancer
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3; Melanoma, cutaneous malignant, susceptibility to, 1
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3; Tracheoesophageal fistula
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3; Familial prostate cancer
Keipert syndrome; Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1
Nephroblastoma
Uterine carcinosarcoma
Wilms tumor 1
Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1
Wilms tumor 2
Wilms tumor 5
Wilms tumor 6

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005612.5(REST):c.2989A>G (p.Met997Val)	rs373733071	0.00011
NM_005612.5(REST):c.1344A>G (p.Ile448Met)	rs778247936	0.00004
NM_005612.5(REST):c.1902G>A (p.Met634Ile)	rs777213931	0.00002
NM_005612.5(REST):c.1639G>T (p.Val547Leu)	rs754696564	0.00001
NM_005612.5(REST):c.1367A>G (p.Asp456Gly)
NM_005612.5(REST):c.1583A>G (p.His528Arg)
NM_005612.5(REST):c.1701G>C (p.Glu567Asp)
NM_005612.5(REST):c.1881G>T (p.Gln627His)	rs1720922537
NM_005612.5(REST):c.1882G>A (p.Val628Met)

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