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Items: 5

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr8:30990014
GRCh38:
Chr8:31132498
WRNWerner syndromeLikely pathogenic
(Jun 14, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr8:30969221
GRCh38:
Chr8:31111705
WRNWerner syndromePathogenic
(Nov 17, 2011)
no assertion criteria provided
3.
GRCh37:
Chr8:30922450
Chr8:30922478
GRCh38:
Chr8:31064934
Chr8:31064962
WRNWerner syndromePathogenic
(Jun 1, 2006)
no assertion criteria provided
4.
GRCh37:
Chr8:30938648
GRCh38:
Chr8:31081132
WRNWerner syndromePathogenic
(Dec 6, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr8:30999196
GRCh38:
Chr8:31141680
WRNWerner syndrome, not providedPathogenic
(Dec 14, 2016)
criteria provided, multiple submitters, no conflicts
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