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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MED12
(R206W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MED12
(V378I)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
MED12
(R1712Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
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