ClinVar Miner

List of variants in gene CHMP2B reported as benign for behavioral variant of frontotemporal dementia

Included ClinVar conditions (45):

Alzheimer disease 3; Frontotemporal dementia
Alzheimer disease 3; Frontotemporal dementia; Pick disease; Acne inversa, familial, 3
Alzheimer disease 3; Frontotemporal dementia; Pick disease; Dilated cardiomyopathy 1U; Acne inversa, familial, 3
Amyotrophic lateral sclerosis type 1
Amyotrophic lateral sclerosis type 10
Amyotrophic lateral sclerosis type 10; TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 11
Amyotrophic lateral sclerosis type 11; Bilateral parasagittal parieto-occipital polymicrogyria; Charcot-Marie-Tooth disease type 4J; Yunis-Varon syndrome
Amyotrophic lateral sclerosis type 11; Charcot-Marie-Tooth disease type 4J
Amyotrophic lateral sclerosis type 12
Amyotrophic lateral sclerosis type 15
Amyotrophic lateral sclerosis type 18
Amyotrophic lateral sclerosis type 19
Amyotrophic lateral sclerosis type 1; Charcot-Marie-Tooth disease axonal type 2CC
Amyotrophic lateral sclerosis type 1; Perry syndrome
Amyotrophic lateral sclerosis type 1; Perry syndrome; Neuronopathy, distal hereditary motor, type 7B
Amyotrophic lateral sclerosis type 1; Spastic tetraplegia and axial hypotonia, progressive
Amyotrophic lateral sclerosis type 20
Amyotrophic lateral sclerosis type 21
Amyotrophic lateral sclerosis type 22
Amyotrophic lateral sclerosis type 6
Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4
Amyotrophic lateral sclerosis type 8
Amyotrophic lateral sclerosis type 8; Adult-onset proximal spinal muscular atrophy, autosomal dominant
Amyotrophic lateral sclerosis type 9
Behavioral variant of frontotemporal dementia
Frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3; Myopathy, distal, with rimmed vacuoles
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
Frontotemporal dementia; Memory impairment; Mental deterioration
Frontotemporal dementia; Parkinson disease, late-onset; Progressive supranuclear palsy-parkinsonism syndrome; Pick disease; Progressive supranuclear ophthalmoplegia
Frontotemporal dementia; Parkinson disease, late-onset; Progressive supranuclear palsy-parkinsonism syndrome; Pick disease; Supranuclear palsy, progressive, 1
Frontotemporal dementia; Parkinsonian disorder; Rigidity; Brain atrophy
Frontotemporal dementia; Pick disease; Progressive supranuclear ophthalmoplegia
Frontotemporal dementia; Primary degenerative dementia of the Alzheimer type, presenile onset
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Charcot-Marie-Tooth disease type 2Y
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3; Amyotrophic lateral sclerosis type 20
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
Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E
Primary open angle glaucoma; Glaucoma, normal tension, susceptibility to; Amyotrophic lateral sclerosis type 12

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: 22

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HGVS	dbSNP	gnomAD frequency
NM_014043.4(CHMP2B):c.312T>C (p.Thr104=)	rs11540913	0.82371
NM_014043.4(CHMP2B):c.27C>T (p.Thr9=)	rs2279720	0.09131
NM_014043.4(CHMP2B):c.372A>C (p.Thr124=)	rs1044499	0.09006
NM_014043.4(CHMP2B):c.*1503G>C	rs1060238	0.03503
NM_014043.4(CHMP2B):c.*1190G>T	rs115892684	0.02804
NM_014043.4(CHMP2B):c.*231T>C	rs17189270	0.01035
NM_014043.4(CHMP2B):c.-151C>A	rs77328592	0.01035
NM_014043.4(CHMP2B):c.560G>A (p.Ser187Asn)	rs78268395	0.00705
NM_014043.4(CHMP2B):c.*1588C>T	rs11426	0.00691
NM_014043.4(CHMP2B):c.34+8C>T	rs35413339	0.00300
NM_014043.4(CHMP2B):c.*1255G>T	rs144167614	0.00241
NM_014043.4(CHMP2B):c.35-7C>T	rs200912994	0.00133
NM_014043.4(CHMP2B):c.*1610C>T	rs191312397	0.00124
NM_014043.4(CHMP2B):c.*864G>A	rs181777395	0.00079
NM_014043.4(CHMP2B):c.*1408A>G	rs183429826	0.00055
NM_014043.4(CHMP2B):c.*744C>A	rs185167991	0.00048
NM_014043.4(CHMP2B):c.192A>G (p.Gln64=)	rs148750997	0.00029
NM_014043.4(CHMP2B):c.364T>C (p.Leu122=)	rs189313287	0.00029
NM_014043.4(CHMP2B):c.549A>G (p.Ser183=)	rs143178463	0.00016
NM_014043.4(CHMP2B):c.*836T>C	rs189927047	0.00012
NM_014043.4(CHMP2B):c.*1071A>G	rs544589377	0.00003
NM_014043.4(CHMP2B):c.*1376G>C	rs191203869

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