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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYH11, NDE1
(Q1934fs +1 more)
Duplication
(frameshift variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
MYH11, NDE1
(V1759I +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GConflicting classifications of pathogenicity
MYH11, NDE1
(K1652Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
MYH11, NDE1
(K1628del +1 more)
Microsatellite
(inframe_deletion +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GConflicting classifications of pathogenicity
MYH11, NDE1
(R1583W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
MYH11, NDE1
(E1501K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
MYH11, NDE1
(A1468V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
MYH11, NDE1
(R1352Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 4
+3 more
GConflicting classifications of pathogenicity
MYH11, NDE1
Duplication
not provided
GUncertain significance
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