ClinVar Miner

List of variants in gene REST reported as likely pathogenic for gingival disorder

Included ClinVar conditions (8):

Autosomal dominant nonsyndromic hearing loss 27; Wilms tumor 6; Fibromatosis, gingival, 5
Epicanthus; Hypertelorism; Esotropia; Hirsutism; Macrotia; Mandibular prognathia; Depressed nasal bridge; Prominent nose; Abnormality of the tongue; Gingival overgrowth; Delayed eruption of primary teeth; Thickened skin; Short columella; Facial hyperostosis; Concave nasal ridge; Long upper lip
Fibromatosis, gingival, 1
Fibromatosis, gingival, 1; Noonan syndrome 4
Fibromatosis, gingival, 5
Gingival disorder
Hypertelorism; Tetralogy of Fallot; Short stature; Hypothyroidism; Constipation; Gingival overgrowth; Joint hypermobility; Thick vermilion border
Seizure; Abnormal facial shape; Gingival overgrowth; Intellectual disability; Generalized hypertrichosis

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_005612.5(REST):c.1310T>A (p.Leu437Ter)	rs1553904077
NM_005612.5(REST):c.2413del (p.Leu805fs)	rs1553904346
NM_005612.5(REST):c.2770C>T (p.Gln924Ter)	rs1284461687
NM_005612.5(REST):c.2865_2866del (p.Asn958fs)	rs1553904481

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