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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TGFBR2
(V387L +8 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
TGFBR2
(L452P +8 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GConflicting classifications of pathogenicity
TGFBR2
(V491M +10 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
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