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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYLK
(E1561Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYLK
Single nucleotide variant
(splice acceptor variant)
Aortic aneurysm, familial thoracic 7
GUncertain significance