ClinVar Miner

List of variants in gene COL1A2 reported as likely pathogenic for ehlers-danlos syndrome, arthrochalasia type, 2

Included ClinVar conditions (10):

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
Ehlers-danlos syndrome, arthrochalasia type, 2
Infantile cortical hyperostosis; Osteogenesis imperfecta; Ehlers-danlos syndrome, arthrochalasia type, 2
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; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; 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; 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, 2

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)
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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000089.4(COL1A2):c.2380C>T (p.Arg794Trp)	rs759251034	0.00003
NM_000089.4(COL1A2):c.1342G>C (p.Gly448Arg)	rs1584320605
NM_000089.4(COL1A2):c.2011del (p.Arg671fs)	rs2115924490
NM_000089.4(COL1A2):c.2198G>C (p.Gly733Ala)	rs2115931844
NM_000089.4(COL1A2):c.2314G>A (p.Gly772Ser)	rs72658185
NM_000089.4(COL1A2):c.2324G>A (p.Gly775Glu)	rs1792148801
NM_000089.4(COL1A2):c.2405G>T (p.Gly802Val)	rs1562906013
NM_000089.4(COL1A2):c.596G>A (p.Gly199Asp)	rs1554395833

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