ClinVar Miner

List of variants studied for frontotemporal dementia with motor neuron disease by Baylor Genetics

Included ClinVar conditions (21):

Amyotrophic lateral sclerosis type 10
Amyotrophic lateral sclerosis type 10; TARDBP-related frontotemporal dementia
Amyotrophic lateral sclerosis type 6
Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4
FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of bone 2, early-onset
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
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 4
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4; Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8
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 lobar degeneration, TARDBP-related
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
Lower motor neuron syndrome with late-adult onset; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Autosomal dominant mitochondrial myopathy with exercise intolerance
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; Herpes simplex encephalitis, susceptibility to, 1; Frontotemporal dementia and/or amyotrophic lateral sclerosis 4; Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu)	rs104893941	0.00129
NM_007126.5(VCP):c.1584C>T (p.Ala528=)	rs147623367	0.00064
NM_007126.5(VCP):c.*4G>T	rs201091341	0.00052
NM_003900.5(SQSTM1):c.1231G>A (p.Gly411Ser)	rs143511494	0.00006
NM_007375.4(TARDBP):c.800A>G (p.Asn267Ser)	rs80356718	0.00003
NM_004960.4(FUS):c.1573C>T (p.Pro525Ser)
NM_007375.4(TARDBP):c.623G>A (p.Arg208Gln)	rs1219922877
NM_013254.4(TBK1):c.1153G>T (p.Glu385Ter)	rs765106259
NM_013254.4(TBK1):c.1588G>A (p.Gly530Arg)	rs2040916858

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