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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMAD3
(E102K +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
(I170V +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GBenign/Likely benign
SMAD3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GBenign/Likely benign
SMAD3
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GConflicting classifications of pathogenicity
SMAD3
Single nucleotide variant
(intron variant)
not specified
GBenign
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