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Links from MedGen

Items: 1 to 100 of 367

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TGFBR1
(R323S +9 more)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome
GLikely pathogenic
TGFBR2
(M434K +8 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome
GPathogenic
SMAD3
Single nucleotide variant
(splice donor variant +1 more)
Loeys-Dietz syndrome
+1 more
GLikely pathogenic
SMAD3
Single nucleotide variant
(splice donor variant)
Loeys-Dietz syndrome
GLikely pathogenic
TGFBR1
(G353V +2 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome
GPathogenic
COL5A1, LOC101448202
(T1583M)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, classic type, 1
+2 more
GConflicting classifications of pathogenicity
FBN2
(G798S)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome
+1 more
GUncertain significance
TGFBR2
(K153fs +1 more)
Deletion
(frameshift variant)
not specified
+2 more
GConflicting classifications of pathogenicity
TGFBR2
(R364W +8 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+6 more
GConflicting classifications of pathogenicity
SMAD3
Single nucleotide variant
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
+2 more
GLikely benign
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GUncertain significance
TGFBR1
Duplication
(3 prime UTR variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
+2 more
GLikely benign
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
+2 more
GLikely benign
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GLikely benign
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
+2 more
GLikely benign
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GConflicting classifications of pathogenicity
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GLikely benign
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GLikely benign
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GLikely benign
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GLikely benign
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GLikely benign
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
TGFBR1
Deletion
(3 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GLikely benign
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GBenign
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GLikely benign
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GLikely benign
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GBenign
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GLikely benign
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GLikely benign
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GLikely benign
TGFBR1
Microsatellite
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GUncertain significance
TGFBR1
Deletion
(3 prime UTR variant)
Loeys-Dietz syndrome 1
+2 more
GLikely benign
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TGFBR1
Microsatellite
(3 prime UTR variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TGFBR1
Insertion
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GUncertain significance
TGFBR1
Insertion
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GBenign
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
TGFBR1
Insertion
(3 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GLikely benign
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
TGFBR1
Duplication
(3 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GLikely benign
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GLikely benign
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GLikely benign
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign/Likely benign
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GLikely benign
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GLikely benign
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GLikely benign
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GLikely benign
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GBenign
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GLikely benign
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GLikely benign
TGFBR1
Deletion
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GLikely benign
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GUncertain significance
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