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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TGFBR2
(R497* +10 more)
Single nucleotide variant
(nonsense)
Loeys-Dietz syndrome
+4 more
GPathogenic/Likely pathogenic
TGFBR2
Single nucleotide variant
(splice donor variant)
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic
TGFBR2
(R537C +10 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GPathogenic/Likely pathogenic
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