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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOX, SRFBP1
(S99Y +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 10
+1 more
GUncertain significance
LOX, SRFBP1
(M298R +2 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 10
+1 more
GPathogenic/Likely pathogenic
LOX, SRFBP1
(G165R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
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