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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYLK
(R1487* +2 more)
Single nucleotide variant
(nonsense)
Aortic aneurysm, familial thoracic 7
GPathogenic
MYLK
(Q1458* +2 more)
Single nucleotide variant
(nonsense)
Aortic aneurysm, familial thoracic 7
GPathogenic