ClinVar Miner

List of variants in gene combination KCNK4, KCNK4-CATSPERZ reported as 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: 2

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_033310.3(KCNK4):c.515C>A (p.Ala172Glu)	rs1565369746
NM_033310.3(KCNK4):c.730G>C (p.Ala244Pro)	rs1189909394

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.