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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057352, SMAD3
Indel
(5 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
LOC130057352, SMAD3
Single nucleotide variant
(5 prime UTR variant)
not specified
+2 more
GBenign
LOC130057352, SMAD3
Single nucleotide variant
(5 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
LOC130057352, SMAD3
Single nucleotide variant
(5 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
LOC130057352, SMAD3
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GUncertain significance
LOC130057352, SMAD3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
LOC130057352, SMAD3
(F7fs)
Deletion
(frameshift variant)
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic
LOC130057352, SMAD3
Single nucleotide variant
(synonymous variant)
Aneurysm-osteoarthritis syndrome
+2 more
GBenign/Likely benign
LOC130057352, SMAD3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
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