ClinVar Miner

List of variants in gene TNFRSF11B reported as benign for hyperostosis

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
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: 15

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HGVS	dbSNP	gnomAD frequency
NM_002546.4(TNFRSF11B):c.401-5T>C	rs3134046	0.93049
NM_002546.4(TNFRSF11B):c.9C>G (p.Asn3Lys)	rs2073618	0.60108
NM_002546.3(TNFRSF11B):c.-223C>T	rs2073617	0.57443
NM_002546.4(TNFRSF11B):c.768A>G (p.Leu256=)	rs2228568	0.09806
NM_002546.4(TNFRSF11B):c.400+4C>T	rs1564858	0.09777
NM_002546.4(TNFRSF11B):c.817+8A>C	rs7844539	0.09748
NM_002546.4(TNFRSF11B):c.30+15C>T	rs3102734	0.09631
NM_002546.4(TNFRSF11B):c.*367G>A	rs7815884	0.08889
NM_002546.4(TNFRSF11B):c.1150T>C (p.Leu384=)	rs1804854	0.08839
NM_002546.4(TNFRSF11B):c.31-7C>T	rs10505344	0.05640
NM_002546.4(TNFRSF11B):c.*583T>A	rs7815440	0.03482
NM_002546.4(TNFRSF11B):c.714G>A (p.Glu238=)	rs11573930	0.02453
NM_002546.4(TNFRSF11B):c.558C>T (p.Ser186=)	rs11573923	0.00484
NM_002546.4(TNFRSF11B):c.841G>A (p.Val281Met)	rs140782326	0.00076
NM_002546.4(TNFRSF11B):c.310G>A (p.Val104Met)	rs11573906	0.00021

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