ClinVar Miner

List of variants reported as pathogenic for GRN-related frontotemporal lobar degeneration with Tdp43 inclusions by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (14):

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
Frontotemporal dementia
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
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ceroid lipofuscinosis 11
Primary progressive non fluent aphasia; Corticobasal syndrome
Semantic dementia

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)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala)	rs63750082	0.00012
NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp)	rs63750424	0.00002
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu)	rs63750083
NM_000021.4(PSEN1):c.488A>G (p.His163Arg)	rs63750590
NM_001377265.1(MAPT):c.2013T>G (p.Asn671Lys)	rs63750756
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu)	rs63751273

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