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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TGFB2
Single nucleotide variant
(intron variant)
Loeys-Dietz syndrome 4
+2 more
GUncertain significance
TGFB2
(V207L +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+5 more
GBenign/Likely benign
TGFB2
Single nucleotide variant
(intron variant)
Loeys-Dietz syndrome 4
+1 more
GConflicting classifications of pathogenicity
TGFB2
(R299W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GPathogenic/Likely pathogenic
TGFB2
Deletion
(intron variant)
not specified
+1 more
GBenign
TGFB2
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 4
+3 more
GBenign/Likely benign
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