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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL3A1
(P179fs)
Deletion
(frameshift variant)
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic
COL3A1
(G393D)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
COL3A1
(G402S)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
COL3A1
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+2 more
GPathogenic
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