ClinVar Miner

List of variants in gene CHMP2B reported as pathogenic 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val)	rs63750818	0.00020
NM_014043.4(CHMP2B):c.311C>A (p.Thr104Asn)	rs281864934
NM_014043.4(CHMP2B):c.442G>T (p.Asp148Tyr)	rs63750653
NM_014043.4(CHMP2B):c.493C>T (p.Gln165Ter)	rs63750355
NM_014043.4(CHMP2B):c.532-1G>C	rs63750652
NM_014043.4(CHMP2B):c.618A>C (p.Gln206His)	rs63751126

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