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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TGFBR2
(F211I +8 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TGFBR2
(R356W +8 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 2
+2 more
GConflicting classifications of pathogenicity
TGFBR2
(V401M +8 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
TGFBR2
(R460C +8 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GPathogenic
TGFBR2
(T516S +10 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 2
+2 more
GUncertain significance
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