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Links from MedGen

Items: 1 to 100 of 17939

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAT2A
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
MAT2A
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR2
(T23R)
Single nucleotide variant
(missense variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR1
Single nucleotide variant
(synonymous variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR1
Deletion
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
SMAD3
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR1
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR1
(V222M +7 more)
Single nucleotide variant
(missense variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR2
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
MAT2A
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR1
(D226N +9 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MAT2A
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
SMAD3
(M10V +3 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
LOC130057352, SMAD3
(R14P)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR2
(P245A +8 more)
Single nucleotide variant
(intron variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MAT2A
(I154V)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR2
(N389K +8 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MAT2A
(D220N)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR2
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR2
(M222I +10 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
Single nucleotide variant
(synonymous variant +3 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR2
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR2
(P26L)
Single nucleotide variant
(missense variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR2
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
SMAD3
(P16A +5 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
SMAD3
(P133S +4 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR2
(I164T +8 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MAT2A
Duplication
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GBenign
TGFBR2
(T132S +3 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
Single nucleotide variant
(synonymous variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR2
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR1
(L256del +9 more)
Deletion
(inframe_deletion +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR2
(K344R +8 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR2
(P113R +3 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR2
(C413Y +10 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
SMAD3
Microsatellite
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR2
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
MAT2A
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
SMAD3
(M156V +5 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
SMAD3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR1
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
MAT2A
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
SMAD3
(D6E +5 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MAT2A
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
SMAD3
(N232S +5 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
SMAD3
(V76F +3 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR2
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
SMAD3
(S192N +4 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
(C112Y +9 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic
SMAD3
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR2
(C396Y +8 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
TGFBR2
(L395P +8 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
MAT2A
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR2
(T274M +8 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR2
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
SMAD3
(D49H)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
SMAD3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
SMAD3
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR1
Duplication
(intron variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR2
(A21S)
Single nucleotide variant
(missense variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR2
(E134A +3 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
SMAD3
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
SMAD3
(P133S +3 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
Single nucleotide variant
(splice donor variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
TGFBR2
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR2
(S352R +8 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MAT2A
(E128D)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
MAT2A
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR2
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
FBN1
Single nucleotide variant
(splice acceptor variant)
Marfan syndrome
+1 more
GPathogenic
FBN1
(T526fs)
Deletion
(frameshift variant)
Marfan syndrome
+1 more
GPathogenic
FBN1
Single nucleotide variant
(intron variant)
Marfan syndrome
+1 more
GLikely benign
FBN1
(D2122G)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GUncertain significance
FBN1
(C150F)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GLikely pathogenic
FBN1
(S2424*)
Single nucleotide variant
(nonsense)
Marfan syndrome
+1 more
GPathogenic
FBN1
(C896fs)
Duplication
(frameshift variant)
Marfan syndrome
+1 more
GPathogenic
FBN1
(C221fs)
Duplication
(frameshift variant)
Marfan syndrome
+1 more
GPathogenic
FBN1
(D1028A)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GUncertain significance
FBN1
(N2533K)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
Marfan syndrome
+1 more
GUncertain significance
FBN1
Single nucleotide variant
(intron variant)
Marfan syndrome
+1 more
GLikely benign
FBN1
(C231fs)
Deletion
(frameshift variant)
Marfan syndrome
+1 more
GPathogenic
FBN1
(C2686*)
Single nucleotide variant
(nonsense)
Marfan syndrome
+1 more
GPathogenic
FBN1
Single nucleotide variant
(intron variant)
Marfan syndrome
+1 more
GLikely benign
FBN1
(S2828*)
Single nucleotide variant
(nonsense)
Marfan syndrome
+1 more
GPathogenic
FBN1
(T2747fs)
Deletion
(frameshift variant)
Marfan syndrome
+1 more
GPathogenic
FBN1
Single nucleotide variant
(synonymous variant)
Marfan syndrome
+1 more
GUncertain significance
FBN1
(P237fs)
Deletion
(frameshift variant)
Marfan syndrome
+1 more
GPathogenic
FBN1
Single nucleotide variant
(intron variant)
Marfan syndrome
+1 more
GLikely benign
FBN1
Insertion
(inframe_insertion)
Marfan syndrome
+1 more
GUncertain significance
FBN1
Deletion
(splice acceptor variant)
Marfan syndrome
+1 more
GPathogenic
FBN1
Deletion
(intron variant)
Marfan syndrome
+1 more
GLikely benign
FBN1
(P2391R)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GUncertain significance
FBN1
(Y1664fs)
Insertion
(frameshift variant)
Marfan syndrome
+1 more
GPathogenic
FBN1
(G127V)
Single nucleotide variant
(missense variant)
Marfan syndrome
+1 more
GUncertain significance
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