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Items: 2

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:120510178
GRCh38:
Chr1:119967555
NOTCH2Alagille syndrome 2Pathogenic
(Jul 1, 2006)
no assertion criteria provided
2.
GRCh37:
Chr1:120460386
GRCh38:
Chr1:119917763
NOTCH2Alagille syndrome 2Pathogenic
(Feb 28, 2013)
no assertion criteria provided
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