ClinVar Miner

List of variants reported as pathogenic for Ehlers-Danlos syndrome, cardiac valvular type by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (11):

Ehlers-Danlos syndrome, cardiac valvular type
Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta
Ehlers-Danlos syndrome, cardiac valvular type; Osteogenesis imperfecta type I; Ehlers-danlos syndrome, arthrochalasia type, 2
Ehlers-Danlos syndrome, cardiac valvular type; Osteogenesis imperfecta; Ehlers-danlos syndrome, arthrochalasia type, 2
Infantile cortical hyperostosis; Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-danlos syndrome, arthrochalasia type, 2; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, cardiac valvular type; Osteoporosis; Ehlers-danlos syndrome, arthrochalasia type, 2; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
Osteogenesis imperfecta with normal sclerae, dominant form; Postmenopausal osteoporosis; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-Danlos syndrome, arthrochalasia type
Osteogenesis imperfecta with normal sclerae, dominant form; Postmenopausal osteoporosis; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-danlos syndrome, arthrochalasia type, 2
Osteogenesis imperfecta, perinatal lethal; Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-Danlos syndrome, arthrochalasia type

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser)	rs72656387	0.00001
NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser)	rs66619856
NM_000089.4(COL1A2):c.1127G>T (p.Gly376Val)	rs67543427
NM_000089.4(COL1A2):c.1136G>A (p.Gly379Glu)	rs121912912
NM_000089.4(COL1A2):c.1523G>T (p.Gly508Val)
NM_000089.4(COL1A2):c.1937G>T (p.Gly646Val)	rs72658150
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser)	rs72659319
NM_000089.4(COL1A2):c.964G>A (p.Gly322Ser)	rs72656394
NM_000089.4(COL1A2):c.982G>A (p.Gly328Ser)	rs66612022

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.