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Items: 1 to 100 of 168

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TGFBR1
(A33G)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
(A33V)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
TGFBR1
Single nucleotide variant
(synonymous variant)
Loeys-Dietz syndrome
+1 more
GLikely benign
TGFBR1
Single nucleotide variant
(synonymous variant)
Loeys-Dietz syndrome 1
+4 more
GConflicting classifications of pathogenicity
TGFBR1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
TGFBR1
(G52R)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
(L53F)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
Single nucleotide variant
(5 prime UTR variant +3 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR1
(E60D)
Single nucleotide variant
(missense variant)
TGFBR1-related disorder
+3 more
GUncertain significance
TGFBR1
(K64R)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 1
+3 more
GUncertain significance
TGFBR1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GBenign/Likely benign
TGFBR1
(V65I)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
TGFBR1
(H67Y)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome
+5 more
GConflicting classifications of pathogenicity
TGFBR1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GConflicting classifications of pathogenicity
TGFBR1
(I72L)
Single nucleotide variant
(missense variant)
TGFBR1-related disorder
+4 more
GConflicting classifications of pathogenicity
TGFBR1
(E74K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TGFBR1
(E74D)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
TGFBR1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR1
(R80Q)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome
+1 more
GUncertain significance
TGFBR1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GLikely benign
TGFBR1
(C86R)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR1
(V95M)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome
+1 more
GUncertain significance
TGFBR1
(T98S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GUncertain significance
TGFBR1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
TGFBR1
Single nucleotide variant
(synonymous variant)
Loeys-Dietz syndrome
+1 more
GLikely benign
TGFBR1
(T113A)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
(T114S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
TGFBR1
(T114I)
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
+2 more
GConflicting classifications of pathogenicity
TGFBR1
Single nucleotide variant
(intron variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
(K120E +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
(G120V +4 more)
Single nucleotide variant
(missense variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
(L126V +1 more)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome
+1 more
GUncertain significance
TGFBR1
(P133L +1 more)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome
+1 more
GUncertain significance
TGFBR1
(C135G +1 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)
Loeys-Dietz syndrome
+1 more
GLikely benign
TGFBR1
(V137I +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
TGFBR1
(I139V +1 more)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 1
+4 more
GConflicting classifications of pathogenicity
TGFBR1
(M146L +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
(N150S +1 more)
Single nucleotide variant
(intron variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
(R151C +1 more)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome
+4 more
GUncertain significance
TGFBR1
Single nucleotide variant
(synonymous variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR1
(V153I +1 more)
Single nucleotide variant
(missense variant +1 more)
Multiple self-healing squamous epithelioma
+6 more
GBenign/Likely benign
TGFBR1
(R157P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
TGFBR1
(R161Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome
+2 more
GUncertain significance
TGFBR1
(D163fs +1 more)
Deletion
(frameshift variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GConflicting classifications of pathogenicity
TGFBR1
(D163G +1 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)
Loeys-Dietz syndrome
+1 more
GLikely benign
TGFBR1
(R168L +1 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
(P169A +1 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)
not provided
+5 more
GConflicting classifications of pathogenicity
TGFBR1
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 1
+5 more
GConflicting classifications of pathogenicity
TGFBR1
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome
+3 more
GLikely benign
TGFBR1
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GLikely benign
TGFBR1
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome
+1 more
GLikely benign
TGFBR1
Deletion
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GConflicting classifications of pathogenicity
TGFBR1
Duplication
(intron variant)
Ehlers-Danlos syndrome
+4 more
GBenign/Likely benign
TGFBR1
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR1
Single nucleotide variant
(synonymous variant)
Loeys-Dietz syndrome
+1 more
GLikely benign
TGFBR1
Single nucleotide variant
(synonymous variant)
Loeys-Dietz syndrome 1
+3 more
GConflicting classifications of pathogenicity
TGFBR1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
TGFBR1
(I205V +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GUncertain significance
TGFBR1
(V210A +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GLikely benign
TGFBR1
(Q212L +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
Single nucleotide variant
(synonymous 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
(R225W +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GConflicting classifications of pathogenicity
TGFBR1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GBenign
TGFBR1
(V154I +6 more)
Single nucleotide variant
(missense variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
TGFBR1
Single nucleotide variant
(synonymous variant)
Loeys-Dietz syndrome
+1 more
GLikely benign
TGFBR1
(E238D +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GLikely benign
TGFBR1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GLikely benign
TGFBR1
(R167C +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
TGFBR1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
TGFBR1
Deletion
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
TGFBR1
Deletion
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GBenign/Likely benign
TGFBR1
Single nucleotide variant
(synonymous variant)
Loeys-Dietz syndrome
+3 more
GLikely benign
TGFBR1
Single nucleotide variant
(synonymous variant)
Loeys-Dietz syndrome 1
+2 more
GConflicting classifications of pathogenicity
TGFBR1
Deletion
(nonsense)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
(D204A +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
(Y282H +2 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
TGFBR1
(H208L +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
(H285R +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(non-coding transcript variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
(Y218N +2 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome
+1 more
GUncertain significance
TGFBR1
Single nucleotide variant
(synonymous variant)
Loeys-Dietz syndrome
+1 more
GLikely benign
TGFBR1
(V297I +2 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 1
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TGFBR1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GBenign/Likely benign
TGFBR1
(A314E +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
TGFBR1
(A310V +2 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 1
+4 more
GUncertain significance
TGFBR1
Single nucleotide variant
(synonymous variant +2 more)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
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