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Links from MedGen

Items: 1 to 100 of 150

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMAD3
(T57R)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
(S50G +2 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
Single nucleotide variant
(synonymous variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
(Q23*)
Single nucleotide variant
(nonsense)
Aneurysm-osteoarthritis syndrome
GLikely pathogenic
SMAD3
(Y121S +5 more)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
GLikely pathogenic
SMAD3
(N148T +5 more)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
(E101fs +2 more)
Microsatellite
(frameshift variant)
Aneurysm-osteoarthritis syndrome
GLikely pathogenic
SMAD3
(C199R +7 more)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
(W21C)
Single nucleotide variant
(missense variant +1 more)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
(F120L +5 more)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
(E111* +5 more)
Single nucleotide variant
(nonsense)
Aneurysm-osteoarthritis syndrome
GLikely pathogenic
SMAD3
(A112D +3 more)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
(S129F +3 more)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
+1 more
GUncertain significance
SMAD3
(C165fs +3 more)
Indel
(frameshift variant)
Aneurysm-osteoarthritis syndrome
GLikely pathogenic
SMAD3
(P133R +2 more)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
(A34T)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
+1 more
GUncertain significance
SMAD3
(R128C +3 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
SMAD3
(E105fs +2 more)
Deletion
(frameshift variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GPathogenic/Likely pathogenic
SMAD3
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GBenign/Likely benign
SMAD3
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
SMAD3
(M106T +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
LOC130057352, SMAD3
(M1I)
Single nucleotide variant
(missense variant +1 more)
Aneurysm-osteoarthritis syndrome
+1 more
GPathogenic/Likely pathogenic
SMAD3
(P51L +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
(E102K +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
(E102* +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Aneurysm-osteoarthritis syndrome
GLikely pathogenic
LOC130057352, SMAD3
(M1L)
Single nucleotide variant
(missense variant +1 more)
Aneurysm-osteoarthritis syndrome
+1 more
GPathogenic/Likely pathogenic
SMAD3
(A215T +3 more)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
+1 more
GUncertain significance
SMAD3
Single nucleotide variant
(3 prime UTR variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
Single nucleotide variant
(3 prime UTR variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
Single nucleotide variant
(3 prime UTR variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
Single nucleotide variant
(3 prime UTR variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
Single nucleotide variant
(3 prime UTR variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
Single nucleotide variant
(3 prime UTR variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
Single nucleotide variant
(3 prime UTR variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
Single nucleotide variant
(3 prime UTR variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
Single nucleotide variant
(3 prime UTR variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
Single nucleotide variant
(3 prime UTR variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
Single nucleotide variant
(3 prime UTR variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
Single nucleotide variant
(3 prime UTR variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
LOC130057352, SMAD3
Single nucleotide variant
(5 prime UTR variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
Single nucleotide variant
(5 prime UTR variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
(A112T +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
SMAD3
(F106L +2 more)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
+2 more
GUncertain significance
SMAD3
(S159fs +3 more)
Deletion
(frameshift variant)
Aneurysm-osteoarthritis syndrome
GLikely pathogenic
SMAD3
Single nucleotide variant
(intron variant)
Aneurysm-osteoarthritis syndrome
GBenign
SMAD3
(Q321L +3 more)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
GLikely pathogenic
LOC130057352, SMAD3
Single nucleotide variant
(synonymous variant)
Aneurysm-osteoarthritis syndrome
+1 more
GConflicting classifications of pathogenicity
SMAD3
Single nucleotide variant
(synonymous variant)
Aneurysm-osteoarthritis syndrome
+1 more
GConflicting classifications of pathogenicity
SMAD3
(V136F +3 more)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
+1 more
GLikely pathogenic
SMAD3
(P118fs +3 more)
Deletion
(frameshift variant)
Aneurysm-osteoarthritis syndrome
GPathogenic
SMAD3
(R187fs +3 more)
Deletion
(frameshift variant)
Aneurysm-osteoarthritis syndrome
GPathogenic
SMAD3
(A7L +2 more)
Indel
(missense variant)
Aneurysm-osteoarthritis syndrome
GLikely pathogenic
SMAD3
Microsatellite
(5 prime UTR variant +1 more)
Aneurysm-osteoarthritis syndrome
GPathogenic
SMAD3
(E141fs +3 more)
Deletion
(frameshift variant)
Aneurysm-osteoarthritis syndrome
GPathogenic
SMAD3
(R386T +3 more)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD6
(L128F)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
+1 more
GUncertain significance
SMAD6
(P219R)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
+1 more
GUncertain significance
SMAD3
(V303D +3 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
SMAD6
(A80V)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
+1 more
GUncertain significance
SMAD6
(T482S)
Single nucleotide variant
(missense variant +1 more)
Aneurysm-osteoarthritis syndrome
+1 more
GUncertain significance
SMAD3
(P263S +3 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
SMAD6
(R281W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
SMAD6
(P272S)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
+1 more
GUncertain significance
SMAD6
(W14*)
Single nucleotide variant
(nonsense +1 more)
Aortic valve disease 2
+2 more
GUncertain significance
SMAD6
Single nucleotide variant
(synonymous variant +1 more)
Aortic valve disease 2
+1 more
GLikely benign
SMAD6
(M1R)
Single nucleotide variant
(missense variant +2 more)
Aneurysm-osteoarthritis syndrome
+1 more
GUncertain significance
SMAD6
Single nucleotide variant
(synonymous variant +1 more)
Aortic valve disease 2
+1 more
GLikely benign
SMAD6
(P432A)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
+1 more
GUncertain significance
SMAD6
(S385N)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
+1 more
GUncertain significance
SMAD6
(L368V)
Single nucleotide variant
(missense variant +1 more)
Aneurysm-osteoarthritis syndrome
+2 more
GUncertain significance
SMAD6
Single nucleotide variant
(synonymous variant +1 more)
Aneurysm-osteoarthritis syndrome
+2 more
GLikely benign
SMAD3
(L404S +3 more)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
+1 more
GUncertain significance
SMAD3
(S423N +3 more)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
+2 more
GConflicting classifications of pathogenicity
SMAD3
(R420C +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SMAD3
(R90C +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
SMAD3
(R80W +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Aneurysm-osteoarthritis syndrome
+1 more
GUncertain significance
SMAD3
(R373H +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SMAD6
(M93T)
Single nucleotide variant
(missense variant +1 more)
Aneurysm-osteoarthritis syndrome
+3 more
GUncertain significance
SMAD3
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GBenign/Likely benign
SMAD3
(W94L +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Aneurysm-osteoarthritis syndrome
+1 more
GConflicting classifications of pathogenicity
SMAD3
Single nucleotide variant
(3 prime UTR variant)
Aneurysm-osteoarthritis syndrome
+1 more
GLikely benign
SMAD3
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+1 more
GBenign
SMAD3
Single nucleotide variant
(3 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
SMAD3
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+1 more
GUncertain significance
SMAD3
Single nucleotide variant
(3 prime UTR variant)
Aneurysm-osteoarthritis syndrome
+1 more
GLikely benign
SMAD3
Single nucleotide variant
(3 prime UTR variant)
Aneurysm-osteoarthritis syndrome
+1 more
GUncertain significance
SMAD3
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+1 more
GUncertain significance
SMAD3
Single nucleotide variant
(3 prime UTR variant)
Aneurysm-osteoarthritis syndrome
+1 more
GUncertain significance
SMAD3
Single nucleotide variant
(3 prime UTR variant)
Aneurysm-osteoarthritis syndrome
+2 more
GBenign
SMAD3
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign
SMAD3
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+1 more
GUncertain significance
SMAD3
Single nucleotide variant
(3 prime UTR variant)
Aneurysm-osteoarthritis syndrome
+1 more
GConflicting classifications of pathogenicity
SMAD3
Single nucleotide variant
(3 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
SMAD3
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+1 more
GConflicting classifications of pathogenicity
SMAD3
Single nucleotide variant
(3 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
SMAD3
Single nucleotide variant
(3 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
SMAD3
Single nucleotide variant
(3 prime UTR variant)
Aneurysm-osteoarthritis syndrome
+1 more
GUncertain significance
SMAD3
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+1 more
GBenign
SMAD3
Single nucleotide variant
(3 prime UTR variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
SMAD3
Single nucleotide variant
(3 prime UTR variant)
Loeys-Dietz syndrome
+1 more
GUncertain significance
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