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Links from MedGen

Items: 1 to 100 of 212

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TGFBR1
(A245V +9 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
(L118M +9 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 1
GLikely pathogenic
TGFBR1
Single nucleotide variant
(splice acceptor variant +1 more)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
(K254E +9 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 1
GLikely pathogenic
TGFBR1
(S260R +9 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 1
GUncertain significance
SMAD2
(R139fs +1 more)
Microsatellite
(frameshift variant)
Loeys-Dietz syndrome 1
GLikely pathogenic
TGFBR1
(G190V +1 more)
Single nucleotide variant
(missense variant +1 more)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
(E242D +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TGFBR1
Insertion
(inframe_insertion +1 more)
Loeys-Dietz syndrome 1
+1 more
GUncertain significance
TGFBR1
Microsatellite
(inframe_deletion)
Loeys-Dietz syndrome 1
+2 more
GUncertain significance
TGFBR1
(L14P)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
+3 more
GUncertain significance
TGFBR1
(R255G +2 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
(D323N +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely pathogenic
TGFBR1
(G137R +2 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 1
GLikely pathogenic
TGFBR1
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 1
+2 more
GConflicting classifications of pathogenicity
TGFBR1
(W281R +2 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 1
GLikely pathogenic
TGFBR1
(L199P +2 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 1
GLikely pathogenic
TGFBR1
(R225W +2 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 1
+1 more
GConflicting classifications of pathogenicity
TGFBR1
(T309M +2 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 1
+2 more
GUncertain significance
TGFBR1
(G30R)
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
+3 more
GUncertain significance
TGFBR1
(T364S +2 more)
Single nucleotide variant
(missense variant)
Multiple self-healing squamous epithelioma
+3 more
GConflicting classifications of pathogenicity
TGFBR1
(D163fs +1 more)
Deletion
(frameshift variant +1 more)
Loeys-Dietz syndrome 1
+1 more
GConflicting classifications of pathogenicity
TGFBR1
Single nucleotide variant
(synonymous variant +1 more)
Loeys-Dietz syndrome 1
+2 more
GLikely benign
TGFBR1
(C347S +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
+1 more
GConflicting classifications of pathogenicity
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
LOC130002223, TGFBR1
Single nucleotide variant
(5 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
LOC130002223, TGFBR1
Single nucleotide variant
(5 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
(Y99C)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 1
+1 more
GUncertain significance
TGFBR1
(C397Y +2 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 1
+1 more
GConflicting classifications of pathogenicity
TGFBR1
(E168D +2 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 1
GLikely pathogenic
TGFBR2
(W504* +10 more)
Single nucleotide variant
(nonsense)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GPathogenic/Likely pathogenic
TGFBR1
(R178C +2 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 1
GConflicting classifications of pathogenicity
TGFBR1
(R151C +1 more)
Single nucleotide variant
(missense variant +1 more)
Multiple self-healing squamous epithelioma
+3 more
GUncertain significance
TGFBR1
(R482S +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GConflicting classifications of pathogenicity
TGFBR1
(H283del +2 more)
Deletion
(inframe_deletion)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
TGFBR1
(A202V +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TGFBR1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GConflicting classifications of pathogenicity
TGFBR1
(Y429H +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
TGFBR1
(H67Y)
Single nucleotide variant
(missense variant)
Multiple self-healing squamous epithelioma
+4 more
GConflicting classifications of pathogenicity
TGFBR1
Microsatellite
(inframe_insertion)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
TGFBR1
(L354P +2 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 1
GLikely pathogenic
TGFBR1
(E245A +2 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 1
GUncertain significance
TGFBR1
(A310V +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GUncertain significance
TGFBR1
(G214S +2 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 1
GLikely pathogenic
TGFBR1
(V297I +2 more)
Single nucleotide variant
(missense variant)
Loeys-Dietz syndrome 1
+2 more
GUncertain significance
TGFBR1
(H283R +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)
not specified
+2 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)
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)
Loeys-Dietz syndrome 1
+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
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