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Items: 42

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL3A1
(P179fs)
Deletion
(frameshift variant)
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic
COL3A1
(G393D)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
COL3A1
(G402S)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
COL3A1
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+2 more
GPathogenic
COL5A2
(G1092D)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 2
GUncertain significance
COL5A2
(G270S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 2
GUncertain significance
TGFBR2
(R497* +10 more)
Single nucleotide variant
(nonsense)
Loeys-Dietz syndrome
+4 more
GPathogenic/Likely pathogenic
TGFBR2
Single nucleotide variant
(splice donor variant)
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic
TGFBR2
(R537C +10 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GPathogenic/Likely pathogenic
MYLK, MYLK-AS1
(S1759P +4 more)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm, familial thoracic 7
+1 more
GPathogenic/Likely pathogenic
MYLK
Single nucleotide variant
(splice donor variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
TGFBR1
Single nucleotide variant
(splice acceptor variant)
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic
TGFBR1
Single nucleotide variant
(splice donor variant)
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic
COL5A1
(G835A)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
FBN1
(L2836fs)
Duplication
(frameshift variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
FBN1
(C2652*)
Single nucleotide variant
(nonsense)
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic
FBN1
(Y2596*)
Single nucleotide variant
(nonsense)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GPathogenic
FBN1
Deletion
(frameshift variant)
Marfan syndrome
+4 more
GPathogenic
FBN1
(D2135fs)
Duplication
(frameshift variant)
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic
FBN1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
FBN1
(T1746fs)
Duplication
(frameshift variant)
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic
FBN1
(R1469P)
Single nucleotide variant
(missense variant)
Marfan syndrome
GLikely pathogenic
FBN1
(E1065fs)
Deletion
(frameshift variant)
Marfan syndrome
+1 more
GPathogenic/Likely pathogenic
FBN1
(Y1004*)
Single nucleotide variant
(nonsense)
Marfan syndrome
+2 more
GPathogenic/Likely pathogenic
FBN1
(E966*)
Single nucleotide variant
(nonsense)
Marfan syndrome
+1 more
GPathogenic
FBN1
(A882V)
Single nucleotide variant
(missense variant)
Marfan syndrome
+11 more
GPathogenic/Likely pathogenic
FBN1
(R861*)
Single nucleotide variant
(nonsense)
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
+12 more
GPathogenic/Likely pathogenic
FBN1
(C853fs)
Duplication
(frameshift variant)
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic
FBN1
(C769Y)
Single nucleotide variant
(missense variant)
Marfan syndrome
+2 more
GPathogenic/Likely pathogenic
FBN1
Single nucleotide variant
(splice acceptor variant)
Marfan syndrome
+1 more
GPathogenic
FBN1
Single nucleotide variant
(intron variant)
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
+10 more
GPathogenic/Likely pathogenic
FBN1
(C474W)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
FBN1, LOC113939944
(R364*)
Single nucleotide variant
(nonsense)
Marfan syndrome
+5 more
GPathogenic/Likely pathogenic
FBN1
(C209Y)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
FBN1, LOC130057019
(Y20C)
Single nucleotide variant
(missense variant)
Marfan syndrome
GUncertain significance
MYH11, NDE1
(R1758Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
NDE1, MYH11
(K1628Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+6 more
GUncertain significance
MYH11
(M1V)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
COL1A1
(P978S)
Single nucleotide variant
(missense variant)
Osteogenesis imperfecta type I
+8 more
GConflicting classifications of pathogenicity
COL1A1
(A348T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
+7 more
GConflicting classifications of pathogenicity
SLC2A10
(R132W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SLC2A10
(Y216*)
Single nucleotide variant
(nonsense)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GPathogenic/Likely pathogenic
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