ClinVar Miner

List of variants studied for hyperostosis by Department of Human Genetics, Hannover Medical School

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: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000127.3(EXT1):c.1019G>A (p.Arg340His)	rs119103287
NM_000127.3(EXT1):c.1469del (p.Leu490fs)	rs886039356
NM_000127.3(EXT1):c.654A>C (p.Lys218Asn)
NM_000127.3(EXT1):c.976del (p.Glu326fs)
NM_207122.2(EXT2):c.537-1G>C

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