ClinVar Miner

List of variants in gene TREM2 reported as likely pathogenic for primary osteolysis

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

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)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_018965.4(TREM2):c.197C>T (p.Thr66Met)	rs201258663	0.00004
NM_018965.4(TREM2):c.132G>A (p.Trp44Ter)	rs104894001	0.00001
NM_018965.4(TREM2):c.233G>A (p.Trp78Ter)	rs104893998	0.00001
NM_018965.4(TREM2):c.313del (p.Ala105fs)	rs386834141	0.00001
NM_018965.4(TREM2):c.377T>G (p.Val126Gly)	rs121908402	0.00001
NM_018965.4(TREM2):c.482+2T>C	rs386834144	0.00001
NM_018965.4(TREM2):c.269del (p.Gly90fs)	rs386834140
NM_018965.4(TREM2):c.40+4_40+6del	rs386834142
NM_018965.4(TREM2):c.40G>T (p.Glu14Ter)	rs386834143
NM_018965.4(TREM2):c.41-1G>C

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