ClinVar Miner

List of variants studied for hyperostosis by GeneReviews

Included ClinVar conditions (37):

Bone Paget disease
Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Osteoporosis; Polycystic liver disease 4 with or without kidney cysts
Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Worth disease; Postmenopausal osteoporosis; Autosomal dominant osteopetrosis 1; Van Buchem disease type 2; Osteoporosis with pseudoglioma; Polycystic liver disease 4 with or without kidney cysts
Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Polycystic liver disease 4 with or without kidney cysts
Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17
Chondrosarcoma; Exostoses, multiple, type 1
Craniodiaphyseal dysplasia, autosomal dominant
Craniodiaphyseal dysplasia, autosomal dominant; Sclerosteosis 1
Exostoses
Exostoses, multiple, type 1
Exostoses, multiple, type 2
Exostoses, multiple, type 2; Seizures-scoliosis-macrocephaly syndrome
Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Autosomal dominant osteopetrosis 1; Van Buchem disease type 2; Osteoporosis with pseudoglioma; LRP5-related primary osteoporosis
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of bone 2, early-onset
Hyperactivity; Seizure; Deeply set eye; Intellectual disability; Poor speech; Secondary microcephaly; Exostoses
Hyperphosphatasemia with bone disease
Infantile cortical hyperostosis
Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta
Infantile cortical hyperostosis; Ehlers-Danlos syndrome, cardiac valvular type; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta
Infantile cortical hyperostosis; Ehlers-Danlos syndrome, classic type; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I
Infantile cortical hyperostosis; Osteogenesis imperfecta; Ehlers-danlos syndrome, arthrochalasia type, 2
Multiple congenital exostosis
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I; Osteoporosis; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Osteogenesis imperfecta type I; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
Osteogenesis imperfecta with normal sclerae, dominant form; Postmenopausal osteoporosis; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I
Osteogenesis imperfecta with normal sclerae, dominant form; Postmenopausal osteoporosis; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1
Paget disease of bone 2, early-onset
Paget disease of bone 2, early-onset; Familial expansile osteolysis
Paget disease of bone 2, early-onset; Familial expansile osteolysis; Autosomal recessive osteopetrosis 7
Paget disease of bone 3
Paget disease of bone 3; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
Paget disease of bone 3; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset; Myopathy, distal, with rimmed vacuoles
Paget disease of bone 6
Sclerosteosis 1
Sclerosteosis 2
Short stature; Abnormal facial shape; Oligodontia; Hyperostosis
Worth disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000088.4(COL1A1):c.3040C>T (p.Arg1014Cys)	rs72653170	0.00001
NM_025237.3(SOST):c.220+1G>C	rs952785856
NM_025237.3(SOST):c.220+3A>T	rs2154590472
NM_025237.3(SOST):c.296dup (p.Val100fs)	rs1974122996
NM_025237.3(SOST):c.371G>A (p.Trp124Ter)	rs2154590429
NM_025237.3(SOST):c.372G>A (p.Trp124Ter)	rs104894644
NM_025237.3(SOST):c.376C>T (p.Arg126Ter)	rs104894645
NM_025237.3(SOST):c.444_445delinsAA (p.Cys148_Pro149delinsTer)	rs2154590427
NM_025237.3(SOST):c.499T>C (p.Cys167Arg)	rs2154590425
NM_025237.3(SOST):c.69C>T (p.Gly23=)	rs1461545319
NM_025237.3(SOST):c.79C>T (p.Gln27Ter)	rs2154590473
NM_025237.3(SOST):c.87dup (p.Lys30fs)	rs377648601

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.