ClinVar for Gene (Select 125110346) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 657387	NC_000015.10:g.(?_66703239)_(67190556_?)del	LOC130057348, LOC130057349 +33 more	Deletion	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 584398	NC_000015.10:g.(?_66703239)_(67066380_?)del	LOC110120917, LOC111413015 +19 more	Deletion	Aortic valve disease 2 +1 more	GConflicting classifications of pathogenicity
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057816, LOC130057817 +1763 more	Copy number gain	See cases	GPathogenic

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