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Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HRAS, LRRC56
(F156L +1 more)
Single nucleotide variant
(missense variant +1 more)
Costello syndrome
GPathogenic
COL2A1
(S1269N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COL2A1
(K1243N +1 more)
Single nucleotide variant
(missense variant)
MASS syndrome
GLikely pathogenic
COL2A1
(D65N)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TGFBR1
(L486S +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic/Likely pathogenic
TGFBR1
(G192D +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SMAD3
(E284G +3 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
SMAD3
(V283E +3 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
SMAD3
(F143fs +3 more)
Duplication
(frameshift variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
FBN2
(D537G)
Single nucleotide variant
(missense variant)
Congenital contractural arachnodactyly
GLikely pathogenic
FBN1
(C2565Y)
Single nucleotide variant
(missense variant)
Marfan syndrome
GPathogenic
FBN1
(C2528R)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic/Likely pathogenic
FBN1
(E2205fs)
Duplication
(frameshift variant)
Marfan syndrome
GPathogenic
FBN1
(D2129G)
Single nucleotide variant
(missense variant)
Marfan syndrome
GLikely pathogenic
FBN1
(R1969fs)
Deletion
(frameshift variant)
Marfan syndrome
+1 more
GPathogenic
FBN1
Single nucleotide variant
(splice acceptor variant)
Marfan syndrome
+1 more
GPathogenic
FBN1
(G1594fs)
Deletion
(frameshift variant)
Marfan syndrome
GPathogenic
FBN1
(F1346V)
Single nucleotide variant
(missense variant)
Marfan syndrome
GPathogenic
FBN1
(E1200V)
Single nucleotide variant
(missense variant)
Marfan syndrome
GLikely pathogenic
FBN1
(C1111Y)
Single nucleotide variant
(missense variant)
Marfan syndrome
GPathogenic
FBN1
(C853R)
Single nucleotide variant
(missense variant)
Marfan syndrome
GPathogenic
FBN1
Single nucleotide variant
(intron variant)
Marfan syndrome
GLikely pathogenic
FBN1
(G325fs)
Deletion
(frameshift variant)
Marfan syndrome
GPathogenic
FBN1
(C102R)
Single nucleotide variant
(missense variant)
Marfan syndrome
GLikely pathogenic
COL3A1
(G258A)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, type 4
+1 more
GPathogenic/Likely pathogenic
MYH11
(P127S)
Single nucleotide variant
(missense variant)
Visceral myopathy 1
GLikely pathogenic
FBN1
(G1313S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GConflicting classifications of pathogenicity
FBN1
(Y1004*)
Single nucleotide variant
(nonsense)
Marfan syndrome
+1 more
GPathogenic
FBN1
(T524fs)
Duplication
(frameshift variant)
Marfan syndrome
+2 more
GPathogenic
FBN1
(R1832H)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
SRFBP1, LOX
(W42*)
Single nucleotide variant
(nonsense)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
SMAD3
(Y364C +3 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GConflicting classifications of pathogenicity
TGFBR2
(D522N +10 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SMAD3
(R268H +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CHAMP1
(D622fs)
Deletion
(frameshift variant)
intellectual disability with severe speech impairment
GPathogenic
CHAMP1
(Q590*)
Single nucleotide variant
(nonsense)
intellectual disability with severe speech impairment
GPathogenic
CHAMP1
(R398*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+2 more
GPathogenic
CHAMP1
(P212fs)
Deletion
(frameshift variant)
intellectual disability with severe speech impairment
GPathogenic
FBN1
(D1238N)
Single nucleotide variant
(missense variant)
not specified
+10 more
GConflicting classifications of pathogenicity
FBN1
(G214S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GPathogenic/Likely pathogenic
MYH11
(K1263del +1 more)
Microsatellite
(inframe_deletion)
Aortic aneurysm, familial thoracic 4
+2 more
GConflicting classifications of pathogenicity
FBN1
(I2585T)
Single nucleotide variant
(missense variant)
Marfan syndrome
+11 more
GPathogenic/Likely pathogenic
AP4B1, AP4B1-AS1
(T219fs +2 more)
Deletion
(frameshift variant)
not provided
+3 more
GPathogenic/Likely pathogenic
FBN1
(C748R)
Single nucleotide variant
(missense variant)
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
+2 more
GPathogenic/Likely pathogenic
FBN1
(R240C)
Single nucleotide variant
(missense variant)
Marfan syndrome
+10 more
GPathogenic/Likely pathogenic
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