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Links from PubMed

Items: 4

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr19:11200292-11223953
LDLRFamilial hypercholesterolemiaLikely pathogenic
(Mar 25, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr19:11234271-11242805
GRCh38:
Chr19:11123595-11132129
LDLRFamilial hypercholesterolemiaPathogenic
(Dec 1, 1992)
no assertion criteria provided
3.
LDLRFamilial hypercholesterolemiaPathogenic
(Mar 13, 1987)
no assertion criteria provided
4.
GRCh37:
Chr19:11231101
GRCh38:
Chr19:11120425
LDLRFamilial hypercholesterolemia, not providedPathogenic/Likely pathogenic
(Mar 30, 2017)
criteria provided, multiple submitters, no conflicts
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