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Items: 3

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr17:44087784
GRCh38:
Chr17:46010418
MAPTnot providedPathogenic
(Apr 4, 2017)
criteria provided, single submitter
2.
GRCh37:
Chr17:44101427
GRCh38:
Chr17:46024061
MAPTFrontotemporal dementia, not providedPathogenic
(Nov 26, 2014)
criteria provided, single submitter
3.
GRCh37:
Chr17:44087755
GRCh38:
Chr17:46010389
MAPTFrontotemporal dementia, Progressive supranuclear ophthalmoplegia, not provided
Pathogenic
(Aug 30, 2016)
criteria provided, single submitter
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