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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806792, MYLK
(G54E)
Single nucleotide variant
(5 prime UTR variant +1 more)
Aortic aneurysm, familial thoracic 7
+3 more
GUncertain significance
LOC126806792, MYLK
(E53K)
Single nucleotide variant
(5 prime UTR variant +1 more)
Aortic aneurysm, familial thoracic 7
+1 more
GUncertain significance