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Items: 3

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr19:11216264
GRCh38:
Chr19:11105588
LDLRE228QFamilial hypercholesterolemias, Familial hypercholesterolemiaPathogenic/Likely pathogenic
(Mar 25, 2016)
criteria provided, multiple submitters, no conflictsVCV000251393
2.
GRCh37:
Chr19:11216264
GRCh38:
Chr19:11105588
LDLRE228*Familial hypercholesterolemias, not provided, Familial hypercholesterolemia
Pathogenic/Likely pathogenic
(Aug 11, 2011)
criteria provided, multiple submitters, no conflictsVCV000226333
3.
GRCh37:
Chr19:11216264
GRCh38:
Chr19:11105588
LDLRE207K, E228KAortic dissection, Carotid artery occlusion, Internal carotid artery dissection,
Carotid artery dissection, Stroke, not provided,
Familial hypercholesterolemia, Familial hypercholesterolemias
Pathogenic/Likely pathogenic
(Jul 20, 2012)
criteria provided, multiple submitters, no conflictsVCV000003691
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