U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 1014

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057816, LOC130057817
+1763 more
Copy number gain
See cases
GPathogenic
LOC130057348, LOC130057349
+33 more
Deletion
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic
LOC110120917, LOC111413015
+19 more
Deletion
Aortic valve disease 2
+1 more
GConflicting classifications of pathogenicity
SMAD3
Single nucleotide variant
(5 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
SMAD3
Single nucleotide variant
(5 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
SMAD3
Single nucleotide variant
(5 prime UTR variant)
Aneurysm-osteoarthritis syndrome
+1 more
GUncertain significance
SMAD3
Single nucleotide variant
(5 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
SMAD3
Single nucleotide variant
(5 prime UTR variant)
Aneurysm-osteoarthritis syndrome
+1 more
GUncertain significance
SMAD3
Single nucleotide variant
(5 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
SMAD3
Single nucleotide variant
(5 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
SMAD3
Single nucleotide variant
(5 prime UTR variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
LOC130057352, SMAD3
Single nucleotide variant
(5 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
LOC130057352, SMAD3
Single nucleotide variant
(5 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
LOC130057352, SMAD3
Single nucleotide variant
(5 prime UTR variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
LOC130057352, SMAD3
Single nucleotide variant
(5 prime UTR variant)
not specified
+2 more
GBenign
LOC130057352, SMAD3
Single nucleotide variant
(5 prime UTR variant)
Loeys-Dietz syndrome
+2 more
GBenign
LOC130057352, SMAD3
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
LOC130057352, SMAD3
Indel
(5 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
LOC130057352, SMAD3
Single nucleotide variant
(5 prime UTR variant)
not specified
+2 more
GBenign
LOC130057352, SMAD3
Single nucleotide variant
(5 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
LOC130057352, SMAD3
Single nucleotide variant
(5 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
LOC130057352, SMAD3
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GUncertain significance
LOC130057352, SMAD3
(M1V)
Single nucleotide variant
(missense variant +1 more)
Aortic aneurysm
GPathogenic
LOC130057352, SMAD3
(M1L)
Single nucleotide variant
(missense variant +1 more)
Aneurysm-osteoarthritis syndrome
+1 more
GPathogenic/Likely pathogenic
LOC130057352, SMAD3
(M1L)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic/Likely pathogenic
LOC130057352, SMAD3
(M1I)
Single nucleotide variant
(missense variant +1 more)
Aneurysm-osteoarthritis syndrome
+1 more
GPathogenic/Likely pathogenic
LOC130057352, SMAD3
(S2W)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
LOC130057352, SMAD3
(S2*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
LOC130057352, SMAD3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
LOC130057352, SMAD3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
LOC130057352, SMAD3
Single nucleotide variant
(synonymous variant)
Aneurysm-osteoarthritis syndrome
+1 more
GConflicting classifications of pathogenicity
LOC130057352, SMAD3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
LOC130057352, SMAD3
(P6L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130057352, SMAD3
(F7fs)
Deletion
(frameshift variant)
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic
LOC130057352, SMAD3
(T8S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
LOC130057352, SMAD3
(I11fs)
Duplication
(frameshift variant)
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic
LOC130057352, SMAD3
(P9S)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
LOC130057352, SMAD3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GBenign/Likely benign
LOC130057352, SMAD3
(P10A)
Single nucleotide variant
(missense variant)
Broad distal phalanx of the thumb
GLikely pathogenic
LOC130057352, SMAD3
Single nucleotide variant
(synonymous variant)
Aneurysm-osteoarthritis syndrome
+1 more
GLikely benign
LOC130057352, SMAD3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC130057352, SMAD3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
LOC130057352, SMAD3
(V12L)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
LOC130057352, SMAD3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
LOC130057352, SMAD3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
SMAD3
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
SMAD3
(L16V)
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
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
SMAD3
Deletion
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
SMAD3
(K19R)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
SMAD3
(K19N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMAD3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
SMAD3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
SMAD3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
SMAD3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
SMAD3
(E22K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMAD3
(N24fs)
Duplication
(frameshift variant)
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic
SMAD3
Single nucleotide variant
(synonymous variant)
Loeys-Dietz syndrome
+3 more
GBenign/Likely benign
SMAD3
(Q23*)
Single nucleotide variant
(nonsense)
Aneurysm-osteoarthritis syndrome
GLikely pathogenic
SMAD3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
SMAD3
(N24S)
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
(N24K)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
SMAD3
(G25V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SMAD3
(E28del)
Microsatellite
(inframe_indel +1 more)
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
(E28*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
SMAD3
(E32*)
Single nucleotide variant
(nonsense)
Isolated thoracic aortic aneurysm
GLikely pathogenic
SMAD3
(A34T)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
SMAD3
(A34E)
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
Deletion
(inframe_deletion)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
SMAD3
(K36*)
Single nucleotide variant
(nonsense)
Familial thoracic aortic aneurysm and aortic dissection
GLikely pathogenic
SMAD3
(S37C)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
SMAD3
(S37fs)
Deletion
(frameshift variant)
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic
SMAD3
(S37I)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
SMAD3
Deletion
(inframe_indel)
not provided
+1 more
GConflicting classifications of pathogenicity
SMAD3
(V39L)
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
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
SMAD3
(K40R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMAD3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
SMAD3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
SMAD3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
SMAD3
(Q47fs)
Deletion
(frameshift variant)
Familial thoracic aortic aneurysm and aortic dissection
GPathogenic
SMAD3
(G46E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMAD3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
SMAD3
(D49Y)
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
(E50K)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
SMAD3
(L51P)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
SMAD3
(L51R)
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
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
GLikely benign
SMAD3
(E52*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
SMAD3
(K53E)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
SMAD3
(A54T)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
SMAD3
(A54G)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
SMAD3
Deletion
(inframe_deletion)
Familial thoracic aortic aneurysm and aortic dissection
GUncertain significance
Format
Items per page
Sort by
Choose Destination