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Items: 1 to 100 of 3165

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129994229, LOC129994230
+688 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACSL6
+1672 more
Copy number loss
See cases
GPathogenic
LOC129389350, LOC129389351
+377 more
Copy number loss
See cases
GPathogenic
LOC129994580, LOC129994581
+336 more
Copy number loss
See cases
GPathogenic
LOC129994513, LOC129994514
+200 more
Copy number loss
See cases
GPathogenic
ALDH7A1, C5orf63
+49 more
Copy number loss
See cases
GPathogenic
FBN2
Single nucleotide variant
(3 prime UTR variant)
Congenital contractural arachnodactyly
GBenign
FBN2
Single nucleotide variant
(3 prime UTR variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Duplication
(3 prime UTR variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(3 prime UTR variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(3 prime UTR variant)
Congenital contractural arachnodactyly
GBenign
FBN2
Single nucleotide variant
(3 prime UTR variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(3 prime UTR variant)
Congenital contractural arachnodactyly
GBenign
FBN2
Single nucleotide variant
(3 prime UTR variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(3 prime UTR variant)
Congenital contractural arachnodactyly
GBenign
FBN2
Single nucleotide variant
(3 prime UTR variant)
Congenital contractural arachnodactyly
GBenign
FBN2
Single nucleotide variant
(3 prime UTR variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(3 prime UTR variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(3 prime UTR variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(3 prime UTR variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Microsatellite
(3 prime UTR variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(3 prime UTR variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(3 prime UTR variant)
Congenital contractural arachnodactyly
GBenign
FBN2
Single nucleotide variant
(3 prime UTR variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(3 prime UTR variant)
Congenital contractural arachnodactyly
GBenign
FBN2
Single nucleotide variant
(3 prime UTR variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(3 prime UTR variant)
Congenital contractural arachnodactyly
GBenign
FBN2
Single nucleotide variant
(3 prime UTR variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(3 prime UTR variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(3 prime UTR variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(3 prime UTR variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(3 prime UTR variant)
Congenital contractural arachnodactyly
GBenign
FBN2
Single nucleotide variant
(3 prime UTR variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(3 prime UTR variant)
Congenital contractural arachnodactyly
GBenign
FBN2
Deletion
(3 prime UTR variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
Single nucleotide variant
(3 prime UTR variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
Duplication
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FBN2
Duplication
(3 prime UTR variant)
Congenital contractural arachnodactyly
+1 more
GConflicting classifications of pathogenicity
FBN2
Single nucleotide variant
(3 prime UTR variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(3 prime UTR variant)
Congenital contractural arachnodactyly
GBenign
FBN2
Single nucleotide variant
(3 prime UTR variant)
Congenital contractural arachnodactyly
GBenign
FBN2
Single nucleotide variant
(3 prime UTR variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(3 prime UTR variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
Single nucleotide variant
(3 prime UTR variant)
Congenital contractural arachnodactyly
GBenign
FBN2
Microsatellite
(3 prime UTR variant)
Congenital contractural arachnodactyly
+1 more
GLikely benign
FBN2
Single nucleotide variant
(3 prime UTR variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(stop lost)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
(Y2912H)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
Single nucleotide variant
(synonymous variant)
Connective tissue disorder
+5 more
GBenign
FBN2
(L2911I)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
(Q2910R)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
(A2902D)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
Single nucleotide variant
(synonymous variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
(E2901K)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
FBN2
(L2899V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FBN2
(E2898*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
FBN2
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
FBN2
Single nucleotide variant
(synonymous variant)
Congenital contractural arachnodactyly
+1 more
GLikely benign
FBN2
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
FBN2
(Y2894S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FBN2
(Y2894C)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
+2 more
GUncertain significance
FBN2
(D2893V)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
+1 more
GConflicting classifications of pathogenicity
FBN2
(D2893N)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
(D2892G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FBN2
(D2892Y)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GBenign/Likely benign
FBN2
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
FBN2
(N2890D)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
+1 more
GConflicting classifications of pathogenicity
FBN2
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
FBN2
(S2889N)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
(E2888D)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
(L2883P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBN2
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
FBN2
(E2882Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
FBN2
(K2881del)
Microsatellite
(inframe_deletion)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
FBN2
(K2880R)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
FBN2
(I2875V)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(synonymous variant)
Congenital contractural arachnodactyly
+1 more
GLikely benign
FBN2
(T2869K)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
Single nucleotide variant
(synonymous variant)
Congenital contractural arachnodactyly
GUncertain significance
FBN2
(G2866V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
FBN2
(G2866S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
FBN2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
FBN2
Single nucleotide variant
(synonymous variant)
Congenital contractural arachnodactyly
+1 more
GLikely benign
FBN2
(L2863F)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
(K2862T)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
(K2862Q)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
FBN2
(T2858M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FBN2
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
FBN2
Single nucleotide variant
(synonymous variant)
Congenital contractural arachnodactyly
+1 more
GBenign/Likely benign
FBN2
(L2853F)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GBenign
FBN2
Single nucleotide variant
(synonymous variant)
Congenital contractural arachnodactyly
GBenign
FBN2
(N2851S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FBN2
Single nucleotide variant
(synonymous variant)
Macular degeneration, early-onset
+1 more
GUncertain significance
FBN2
(Q2849E)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
FBN2
Single nucleotide variant
(synonymous variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
(H2848R)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GLikely benign
FBN2
(I2847M)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GUncertain significance
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