ClinVar Miner

List of variants reported as pathogenic for familial osteosclerosis by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (42):

Autosomal dominant osteopetrosis 1
Autosomal dominant osteopetrosis 2
Autosomal dominant osteopetrosis 2; Autosomal recessive osteopetrosis 4
Autosomal dominant osteopetrosis 2; Autosomal recessive osteopetrosis 4; Hypopigmentation, organomegaly, and delayed myelination and development
Autosomal dominant palmoplantar keratoderma and congenital alopecia; Atrioventricular septal defect and common atrioventricular junction; Craniometaphyseal dysplasia, autosomal recessive; Hypoplastic left heart syndrome 1; Oculodentodigital dysplasia, autosomal recessive; Syndactyly type 3; Oculodentodigital dysplasia; Erythrokeratodermia variabilis et progressiva 3
Autosomal dominant palmoplantar keratoderma and congenital alopecia; Craniometaphyseal dysplasia, autosomal recessive; Oculodentodigital dysplasia, autosomal recessive; Syndactyly type 3; Oculodentodigital dysplasia; Erythrokeratodermia variabilis et progressiva 3
Autosomal recessive osteopetrosis
Autosomal recessive osteopetrosis 1
Autosomal recessive osteopetrosis 1; Mitochondrial complex 1 deficiency, nuclear type 2
Autosomal recessive osteopetrosis 2
Autosomal recessive osteopetrosis 4
Autosomal recessive osteopetrosis 5
Autosomal recessive osteopetrosis 6
Autosomal recessive osteopetrosis 6; Osteopetrosis, autosomal dominant 3
Autosomal recessive osteopetrosis 7
Autosomal recessive osteopetrosis 8
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
Chondrocalcinosis 2; Craniometaphyseal dysplasia, autosomal dominant
Craniodiaphyseal dysplasia, autosomal dominant
Craniodiaphyseal dysplasia, autosomal dominant; Sclerosteosis 1
Craniometaphyseal dysplasia, autosomal dominant
Craniometaphyseal dysplasia, autosomal recessive
Dysosteosclerosis
Exudative vitreoretinopathy 4; Autosomal dominant osteopetrosis 1; Polycystic liver disease 1; Osteoporosis with pseudoglioma
Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Autosomal dominant osteopetrosis 1; Van Buchem disease type 2; Osteoporosis with pseudoglioma; LRP5-related primary osteoporosis
Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Polycystic liver disease 4 with or without kidney cysts
Immunodeficiency 33; Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome; Ectodermal dysplasia and immunodeficiency 1; Incontinentia pigmenti syndrome
Infantile osteopetrosis with neuroaxonal dysplasia
Leukocyte adhesion deficiency 3
Melorheostosis
Melorheostosis; Cardiofaciocutaneous syndrome 3
Melorheostosis; Noonan syndrome 1; Cardiofaciocutaneous syndrome 3
Osteopathia striata with cranial sclerosis
Osteopetrosis
Osteopetrosis with renal tubular acidosis
Osteopetrosis, autosomal dominant 3
Osteopetrosis, autosomal recessive 9
Osteosclerotic metaphyseal dysplasia
Paget disease of bone 2, early-onset; Familial expansile osteolysis; Autosomal recessive osteopetrosis 7
Pyknodysostosis

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg)	rs137853150	0.00019
NM_006019.4(TCIRG1):c.1674-1G>A	rs139617644	0.00019
NM_006019.4(TCIRG1):c.2008C>T (p.Arg670Ter)	rs371263807	0.00010
NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr)	rs762780994	0.00008
NM_006019.4(TCIRG1):c.1554+2T>A	rs761918801	0.00002
NM_000396.4(CTSK):c.136C>T (p.Arg46Trp)	rs371277428	0.00001
NM_000396.4(CTSK):c.436G>C (p.Gly146Arg)	rs74315302	0.00001
NM_006019.4(TCIRG1):c.2066G>A (p.Trp689Ter)	rs1590817956	0.00001
NC_000011.9:g.(67812570_67814899)_(67815440_67816345)del
NM_000067.3(CA2):c.610G>T (p.Glu204Ter)	rs568377824
NM_000396.4(CTSK):c.236G>A (p.Gly79Glu)	rs74315305
NM_000396.4(CTSK):c.505G>A (p.Asp169Asn)	rs2101951545
NM_000396.4(CTSK):c.908G>A (p.Gly303Glu)	rs756250449
NM_006019.4(TCIRG1):c.1114C>T (p.Gln372Ter)	rs776436008
NM_006019.4(TCIRG1):c.1118del (p.Gly373fs)	rs1269558164
NM_006019.4(TCIRG1):c.2324C>G (p.Pro775Arg)	rs2495671613
NM_006019.4(TCIRG1):c.504-6C>A	rs1028394725

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