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330988 RESULTS

MAPT Q230R

MUTATIONS MAPT 44060859 GRCh37/hg19 rs63750072 A G g.96899A> G g.94073A> G Exon 4a Point, Missense Coding Unknown. Not applicable. Q230R Frontotemporal Dementia: Benign, Alzheimer's Disease: Unclear PathogenicityAlzheimer's Disease, None This varian

MAPT P202L

MUTATIONS MAPT 44060775 GRCh37/hg19 rs63750417 C T g.96815C> T g.93989C> T Exon 4a Point, Missense Coding Unknown. Not applicable. P202L Frontotemporal Dementia: BenignNone This variant in exon 4a of MAPT is thought to be benign. Originally described accordin

MAPT G86S

MUTATIONS MAPT 44051786 GRCh37/hg19 rs63751135 G A g.87825G> A g.84999G> A Exon 3 Point, Missense Coding No effect on normal splicing of exons 2 or 3; Creation of a predicted phosphorylation site and a predicted O-glycosylation site. Frontal hypometabolism by

MAPT V75A

MUTATIONS MAPT 44051754 GRCh37/hg19 T C g.12051T> C g.84967T> C Exon 3 Point, Missense Coding Unknown, but in silico algorithm did not reach deleteriousness threshold (PHRED-scaled CADD = 13.34). Frontotemporal atrophy and fronto-mesial and parietal left hypo

MAPT T39T

MUTATIONS MAPT 44039820 GRCh37/hg19 rs63750529 G A g.75859G> A g.73033G> A Exon 1 Point, Silent Coding Unknown. Unknown. T39T Frontotemporal Dementia: Unclear PathogenicityNone This silent mutation was identified while screening MAPT in three sets of patient

MAPT T30A

MUTATIONS MAPT 44039791 GRCh37/hg19 A G g.75830A> G g.73004A> G Exon 1 Point, Missense Coding Unknown. Not applicable. T30A Frontotemporal Dementia: BenignNone This polymorphism was identified in one individual from the Bantu Setswana population originating i

PSEN1 L219F

MUTATIONS PSEN1 73659458 GRCh37/hg19 rs63749987 C T g.44674C> T g.61280C> T Exon 7 Point, Missense Coding Decreased Aβ40; increased Aβ42 and the Aβ42/Aβ40 ratio in vitro. Unknown L219F Alzheimer's Disease: Not ClassifiedAlzheimer's Disease This vari

PSEN1 G217D

MUTATIONS PSEN1 73659453 GRCh37/hg19 rs63750444 G A g.44669G> A g.61275G> A Exon 7 Point, Missense Coding Decreased Aβ37/Aβ42 ratio; increased Aβ42/Aβ40. Increased Aβ43 and decreased Aβ37 production. Cotton wool plaques in the cortex, caudate nucleus, putamen

PSEN1 G217R

MUTATIONS PSEN1 73659452 GRCh37/hg19 G C g.44668G> C g.61274G> C Exon 7 Point, Missense Coding Increased Aβ42/Aβ40 in two cell-based assays; decreased Aβ37/Aβ42 in iPSC-derived neurons.  Cotton wool plaques. G217R Alzheimer's Disease: Likely PathogenicAl

PSEN1 H214Y

MUTATIONS PSEN1 73659443 GRCh37/hg19 rs63751003 C T g.44659C> T g.61265C> T Exon 7 Point, Missense Coding Increased Aβ42/Aβ40 and decreased Aβ37/Aβ42 in cultured cells. Unknown; imaging showed cortical atrophy, in one case more prominently in the left hemisph

PSEN1 H214D

MUTATIONS PSEN1 73659443 GRCh37/hg19 C G g.44659C> G g.61265C> G Exon 7 Point, Missense Coding Decreased Aβ37/Aβ42 ratio; Aβ42/Aβ40 similar or greater than that of controls. Reduced production of Aβ37, Aβ38, Aβ39, Aβ40, and Aβ42 peptides, but not Aβ43.  Unkno

PSEN1 I213T

MUTATIONS PSEN1 73659441 GRCh37/hg19 rs63751039 T C g.44657T> C g.61263T> C Exon 7 Point, Missense Coding   Decreased short (Aβ38, Aβ40, and Aβ42), and increased long (Aβ43, Aβ45, Aβ46+) Aβ peptides in cell lysates and knockin mouse brains. Increased Aβ42/Aβ4

PSEN1 I213F

MUTATIONS PSEN1 73659440 GRCh37/hg19 rs63750861 A T g.44656A> T g.61262A> T Exon 7 Point, Missense Coding Increased Aβ40 and Aβ42 secretion, and increased Aβ42/Aβ40 ratio in transfected cells. Unknown I213F Alzheimer's Disease: PathogenicAlzheimer's

PSEN1 G209V

MUTATIONS PSEN1 73659429 GRCh37/hg19 rs63750053 G T g.44645G> T g.61251G> T Exon 7 Point, Missense Coding Abrogated Aβ40 production and drastically reduced Aβ42 production in vitro. Also, caused incomplete endoproteolytic processing of PSEN1. Neuropathology c

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