ClinVar Miner

List of variants reported as likely benign for primary osteolysis by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Included ClinVar conditions (32):

Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome
Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Hutchinson-Gilford syndrome; Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Hutchinson-Gilford syndrome; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Mandibuloacral dysplasia with type A lipodystrophy; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Mandibuloacral dysplasia with type A lipodystrophy; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive; Laminopathy; Restrictive dermopathy 2
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Mandibuloacral dysplasia with type A lipodystrophy; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive; Restrictive dermopathy 2
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Mandibuloacral dysplasia with type A lipodystrophy; Lethal tight skin contracture syndrome; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Congenital muscular dystrophy due to LMNA mutation
Familial expansile osteolysis
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of bone 2, early-onset
Hajdu-Cheney syndrome
Hutchinson-Gilford syndrome
Hyaline fibromatosis syndrome
Lethal tight skin contracture syndrome; Mandibuloacral dysplasia with type B lipodystrophy
Mandibuloacral dysplasia
Mandibuloacral dysplasia with type A lipodystrophy
Mandibuloacral dysplasia with type B lipodystrophy
Mandibuloacral dysplasia with type B lipodystrophy; Restrictive dermopathy 1
Multicentric carpo-tarsal osteolysis with or without nephropathy
Multicentric carpo-tarsal osteolysis with or without nephropathy; Duane retraction syndrome 3 with or without deafness
Multicentric osteolysis nodulosis arthropathy spectrum
Multicentric osteolysis, nodulosis, and arthropathy
Nestor-Guillermo progeria syndrome
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
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
Primary dilated cardiomyopathy; Charcot-Marie-Tooth disease type 2B1; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Hutchinson-Gilford syndrome; Familial partial lipodystrophy, Dunnigan type; Congenital muscular dystrophy due to LMNA mutation; Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Primary dilated cardiomyopathy; Hutchinson-Gilford syndrome
Winchester syndrome

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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: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003900.5(SQSTM1):c.996A>G (p.Ser332=)	rs141436407	0.00230
NM_018965.4(TREM2):c.399G>T (p.Leu133=)	rs144250872	0.00095
NM_003900.5(SQSTM1):c.924G>A (p.Ala308=)	rs139482113	0.00063
NM_018965.4(TREM2):c.514C>T (p.Pro172Ser)	rs781302866	0.00003

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