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Links from MedGen

Items: 1 to 100 of 1902

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYH11, NDE1
(A1571V +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 4
GUncertain significance
MYH11
(G582R +1 more)
Inversion
(missense variant)
Aortic aneurysm, familial thoracic 4
GUncertain significance
MYH11
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11, NDE1
(E1715Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 4
GUncertain significance
MYH11
(R1282G +1 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 4
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11, NDE1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
(I157V)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 4
GUncertain significance
MYH11
(S378Y +1 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 4
GUncertain significance
MYH11
(T886S +1 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 4
GUncertain significance
MYH11
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
(L225P +1 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 4
GUncertain significance
MYH11
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
GUncertain significance
MYH11
(K12N)
Single nucleotide variant
(missense variant)
MYH11-related condition
+1 more
GUncertain significance
MYH11
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11, NDE1
(I1408N +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 4
GUncertain significance
MYH11
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
Insertion
(intron variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11, NDE1
(E1607G +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 4
GUncertain significance
MYH11, NDE1
(K1795N +1 more)
Single nucleotide variant
(intron variant +1 more)
Aortic aneurysm, familial thoracic 4
GUncertain significance
MYH11, NDE1
(L1449V +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 4
GUncertain significance
MYH11
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
(Q1075H +1 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 4
GUncertain significance
MYH11, NDE1
(E1288A +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 4
GUncertain significance
MYH11
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
(M803T +1 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 4
GUncertain significance
MYH11
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
(K1224E +1 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 4
GUncertain significance
MYH11
Deletion
(intron variant)
Aortic aneurysm, familial thoracic 4
GBenign
MYH11
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
Deletion
(splice donor variant)
Aortic aneurysm, familial thoracic 4
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11, NDE1
(R1490Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 4
GUncertain significance
MYH11
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
(I50V)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 4
GUncertain significance
MYH11
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
(R684C +1 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 4
GUncertain significance
MYH11
(A1104G +1 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 4
GUncertain significance
MYH11
(N602S +1 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 4
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11, NDE1
(R1585K +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 4
GUncertain significance
MYH11
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11, NDE1
Microsatellite
(intron variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
(S352P +1 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 4
GUncertain significance
MYH11
(V911M +1 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 4
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11, NDE1
(E1772Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 4
GUncertain significance
MYH11, NDE1
Deletion
(3 prime UTR variant +1 more)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11, NDE1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11, NDE1
(A1774T +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 4
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11, NDE1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
GUncertain significance
MYH11
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11, NDE1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
GUncertain significance
MYH11
(E1091L +1 more)
Indel
(missense variant)
Aortic aneurysm, familial thoracic 4
GUncertain significance
MYH11, NDE1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11, NDE1
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11, NDE1
Single nucleotide variant
(synonymous variant +1 more)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11, NDE1
Single nucleotide variant
(3 prime UTR variant +1 more)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11, NDE1
(A1821T +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 4
GUncertain significance
MYH11, NDE1
(E1467G +1 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 4
GUncertain significance
MYH11, NDE1
Duplication
(intron variant)
Aortic aneurysm, familial thoracic 4
GUncertain significance
MYH11
(E46K)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 4
GUncertain significance
MYH11
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
MYH11
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 4
GLikely benign
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