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Items: 10

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr20:45354412
GRCh38:
Chr20:46725773
SLC2A10Arterial tortuosity syndromePathogenic
(Sep 10, 2014)
no assertion criteria provided
2.
GRCh37:
Chr20:45354406-45354409
GRCh38:
Chr20:46725767-46725770
SLC2A10Arterial tortuosity syndrome, not providedPathogenic
(Jan 30, 2018)
criteria provided, single submitter
3.
GRCh37:
Chr20:45354100
GRCh38:
Chr20:46725461
SLC2A10Arterial tortuosity syndromePathogenic
(Sep 10, 2014)
no assertion criteria provided
4.
GRCh37:
Chr20:45355548
GRCh38:
Chr20:46726909
SLC2A10Arterial tortuosity syndromePathogenic
(Sep 10, 2014)
no assertion criteria provided
5.
GRCh38:
Chr20:46727466-46729787
SLC2A10Arterial tortuosity syndromePathogenic
(Sep 10, 2014)
no assertion criteria provided
6.
GRCh37:
Chr20:45354367
GRCh38:
Chr20:46725728
SLC2A10Arterial tortuosity syndrome, Cardiovascular phenotypePathogenic/Likely pathogenic
(Apr 1, 2015)
criteria provided, single submitter
7.
GRCh37:
Chr20:45354360
GRCh38:
Chr20:46725721
SLC2A10Arterial tortuosity syndrome, Cardiovascular phenotypePathogenic
(Nov 8, 2016)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr20:45354069
GRCh38:
Chr20:46725430
SLC2A10Arterial tortuosity syndrome, Thoracic aortic aneurysm and aortic dissection, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Apr 21, 2016)
criteria provided, conflicting interpretations
9.
GRCh37:
Chr20:45354951
GRCh38:
Chr20:46726312
SLC2A10Arterial tortuosity syndrome, not providedPathogenic
(Sep 10, 2014)
criteria provided, single submitter
10.
GRCh37:
Chr20:45355548
GRCh38:
Chr20:46726909
SLC2A10Arterial tortuosity syndrome, not provided, Cardiovascular phenotype
Pathogenic
(May 24, 2017)
criteria provided, multiple submitters, no conflicts
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