Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1565825132
rs1565825132
T 0.700 GeneticVariation CLINVAR

dbSNP: rs63750869
rs63750869
0.020 GeneticVariation BEFREE The V363I mutation of the microtubule-associated protein tau gene has previously been associated with a case of primary progressive nonfluent aphasia with variable penetrance. 21343707

2011

dbSNP: rs553119528
rs553119528
GRN
0.020 GeneticVariation BEFREE We recently reported a Spanish family with progressive non-fluent aphasia and dementia in which a novel C521Y mutation segregates with disease. 20028451

2010

dbSNP: rs553119528
rs553119528
GRN
0.020 GeneticVariation BEFREE We identified a novel Cys521Tyr progranulin gene variant in a PNFA family that potentially disrupts disulphide bridging causing protein misfolding. 19020205

2009

dbSNP: rs63750869
rs63750869
0.020 GeneticVariation BEFREE Progressive nonfluent aphasia associated with a new mutation V363I in tau gene. 17712160

2007

dbSNP: rs1026683055
rs1026683055
GRN
0.010 GeneticVariation BEFREE We identified a known mutation of MAPT (p.Pro301Leu, c.902C>T) in four patients from an autosomal dominant FTD family with behavioral variant FTD (bvFTD) and progressive nonfluent aphasia (PNFA) phenotypes, and a novel mutation in MAPT (p.Leu48Val, c.142 G>C) in a sporadic progressive supranuclear palsy patient. 27439681

2016

dbSNP: rs1038579230
rs1038579230
VCP
0.010 GeneticVariation BEFREE We identified a known mutation of MAPT (p.Pro301Leu, c.902C>T) in four patients from an autosomal dominant FTD family with behavioral variant FTD (bvFTD) and progressive nonfluent aphasia (PNFA) phenotypes, and a novel mutation in MAPT (p.Leu48Val, c.142 G>C) in a sporadic progressive supranuclear palsy patient. 27439681

2016

dbSNP: rs267604921
rs267604921
0.010 GeneticVariation BEFREE As a result, 2 novel mutations in MAPT (p.D177V and p.P513A) were identified in a sporadic and familial patient with PNFA respectively, and one known mutation in MAPT (p.N279K) was detected in an FTD-parkinsonism family. 27311648

2016

dbSNP: rs533610448
rs533610448
0.010 GeneticVariation BEFREE As a result, 2 novel mutations in MAPT (p.D177V and p.P513A) were identified in a sporadic and familial patient with PNFA respectively, and one known mutation in MAPT (p.N279K) was detected in an FTD-parkinsonism family. 27311648

2016

dbSNP: rs63750756
rs63750756
0.010 GeneticVariation BEFREE As a result, 2 novel mutations in MAPT (p.D177V and p.P513A) were identified in a sporadic and familial patient with PNFA respectively, and one known mutation in MAPT (p.N279K) was detected in an FTD-parkinsonism family. 27311648

2016

dbSNP: rs63751273
rs63751273
0.010 GeneticVariation BEFREE We identified a known mutation of MAPT (p.Pro301Leu, c.902C>T) in four patients from an autosomal dominant FTD family with behavioral variant FTD (bvFTD) and progressive nonfluent aphasia (PNFA) phenotypes, and a novel mutation in MAPT (p.Leu48Val, c.142 G>C) in a sporadic progressive supranuclear palsy patient. 27439681

2016

dbSNP: rs762046989
rs762046989
0.010 GeneticVariation BEFREE We identified a known mutation of MAPT (p.Pro301Leu, c.902C>T) in four patients from an autosomal dominant FTD family with behavioral variant FTD (bvFTD) and progressive nonfluent aphasia (PNFA) phenotypes, and a novel mutation in MAPT (p.Leu48Val, c.142 G>C) in a sporadic progressive supranuclear palsy patient. 27439681

2016

dbSNP: rs762104961
rs762104961
0.010 GeneticVariation BEFREE We identified a known mutation of MAPT (p.Pro301Leu, c.902C>T) in four patients from an autosomal dominant FTD family with behavioral variant FTD (bvFTD) and progressive nonfluent aphasia (PNFA) phenotypes, and a novel mutation in MAPT (p.Leu48Val, c.142 G>C) in a sporadic progressive supranuclear palsy patient. 27439681

2016

dbSNP: rs63750541
rs63750541
GRN
0.010 GeneticVariation BEFREE In addition, two non-synonymous changes were detected: G168S change in exon 5 was found in a single patient, with no family history, who showed a mixed FTLD/MND picture and A324T change in exon 9 was found in two cases; one case of frontotemporal dementia (FTD) with a sister with FTD+MND and the other in a case of progressive non-fluent aphasia (PNFA) without any apparent family history. 18192287

2008

dbSNP: rs753070659
rs753070659
GRN
0.010 GeneticVariation BEFREE In addition, two non-synonymous changes were detected: G168S change in exon 5 was found in a single patient, with no family history, who showed a mixed FTLD/MND picture and A324T change in exon 9 was found in two cases; one case of frontotemporal dementia (FTD) with a sister with FTD+MND and the other in a case of progressive non-fluent aphasia (PNFA) without any apparent family history. 18192287

2008