ClinVar Miner

List of variants reported as uncertain significance for inclusion body myopathy with Paget disease of bone and frontotemporal dementia by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (9):

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Inclusion body myopathy and brain white matter abnormalities
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1
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 2
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3; Amyotrophic lateral sclerosis type 20

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_007126.5(VCP):c.41C>T (p.Thr14Ile)	rs1219381953	0.00001
NM_007126.5(VCP):c.30T>A (p.Asp10Glu)	rs1828874096

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