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Items: 66

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYLK
(P825L +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
NOTCH1
(A2069T)
Single nucleotide variant
(missense variant)
Marfan syndrome
+5 more
GConflicting classifications of pathogenicity
FBN1
(E2846G)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+9 more
GUncertain significance
FBN1
(K2821Q)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GUncertain significance
FBN1
(E2796K)
Single nucleotide variant
(missense variant)
Marfan syndrome
+6 more
GConflicting classifications of pathogenicity
FBN1
(R2776Q)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
FBN1
(E2717K)
Single nucleotide variant
(missense variant)
Marfan syndrome
+8 more
GConflicting classifications of pathogenicity
FBN1
(P2700S)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GConflicting classifications of pathogenicity
FBN1
(H2685R)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
FBN1
(Y2639C)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GPathogenic/Likely pathogenic
FBN1
(R2589G)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
FBN1
(I2585T)
Single nucleotide variant
(missense variant)
Connective tissue dysplasia
+12 more
GPathogenic/Likely pathogenic
FBN1
(E2570K)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
FBN1
(C2535*)
Single nucleotide variant
(nonsense)
Marfan syndrome
+2 more
GPathogenic
FBN1
(G2514R)
Single nucleotide variant
(missense variant)
Marfan syndrome
GPathogenic
FBN1
(P2454T)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GConflicting classifications of pathogenicity
FBN1
(Y2280C)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GConflicting classifications of pathogenicity
FBN1
(C2258G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
FBN1
(C2232S)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GPathogenic/Likely pathogenic
FBN1
Single nucleotide variant
(intron variant)
not provided
+2 more
GPathogenic/Likely pathogenic
FBN1
(Q1735fs)
Duplication
(frameshift variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GPathogenic
FBN1
(R1692del)
Microsatellite
(inframe_deletion)
Marfan syndrome
GPathogenic
FBN1
(C1646S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GPathogenic/Likely pathogenic
FBN1
(R1596*)
Single nucleotide variant
(nonsense)
Marfan syndrome
+9 more
GPathogenic
FBN1
(M1576T)
Single nucleotide variant
(missense variant)
Marfan syndrome
+10 more
GConflicting classifications of pathogenicity
FBN1
(A1560P)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GUncertain significance
FBN1
(T1547I)
Single nucleotide variant
(missense variant)
Marfan syndrome
GBenign
FBN1
(R1530C)
Single nucleotide variant
(missense variant)
Ectopia lentis 1, isolated, autosomal dominant
+11 more
GPathogenic/Likely pathogenic
FBN1
(C1513Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
FBN1
(C1502R)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GPathogenic/Likely pathogenic
FBN1, LOC126862124
Microsatellite
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
FBN1
(C1389S)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GPathogenic
FBN1
Single nucleotide variant
(splice donor variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GPathogenic
FBN1
(I1048T)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GPathogenic/Likely pathogenic
FBN1
(N1046S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely pathogenic
FBN1
(P970L)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
FBN1
(P918fs)
Deletion
(frameshift variant)
Ectopia lentis 1, isolated, autosomal dominant
+8 more
GPathogenic
FBN1
(D893Y)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
FBN1
(A881T)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
FBN1
(G880S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
FBN1
(C748Y)
Single nucleotide variant
(missense variant)
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
+3 more
GPathogenic/Likely pathogenic
FBN1
(Y662D)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FBN1
(R650C)
Single nucleotide variant
(missense variant)
not provided
+10 more
GPathogenic/Likely pathogenic
FBN1
Single nucleotide variant
(intron variant)
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
+10 more
GPathogenic/Likely pathogenic
FBN1
(C596Y)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GPathogenic/Likely pathogenic
FBN1
Single nucleotide variant
(splice acceptor variant)
not provided
+2 more
GPathogenic
FBN1
(R565*)
Single nucleotide variant
(nonsense)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GPathogenic
FBN1
(R545H)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
FBN1
(R545C)
Single nucleotide variant
(missense variant)
not specified
+11 more
GPathogenic
FBN1
(N542S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
FBN1
(C528*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
FBN1
(R525W)
Single nucleotide variant
(missense variant)
Marfan syndrome
+9 more
GUncertain significance
FBN1
(R516Q)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+10 more
GConflicting classifications of pathogenicity
FBN1
(C476G)
Single nucleotide variant
(missense variant)
Marfan syndrome
+4 more
GPathogenic
LOC113939944, FBN1
(R364*)
Single nucleotide variant
(nonsense)
Marfan syndrome
+5 more
GPathogenic/Likely pathogenic
FBN1, LOC113939944
(G363S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FBN1, LOC113939944
(R332C)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GConflicting classifications of pathogenicity
FBN1
(R327fs)
Deletion
(frameshift variant)
Marfan syndrome
+2 more
GPathogenic
FBN1
(G301V)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+12 more
GConflicting classifications of pathogenicity
FBN1
Single nucleotide variant
(splice acceptor variant)
not provided
+3 more
GPathogenic/Likely pathogenic
FBN1
(C145Y)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GPathogenic/Likely pathogenic
FBN1
(K43*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
FBN1
(L11Q)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GUncertain significance
FBN1
Deletion
Marfan syndrome
GPathogenic
MYH11
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
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