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Links from MedGen

Items: 1 to 100 of 310

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057352, SMAD3
(M1T)
Single nucleotide variant
(missense variant +1 more)
Aneurysm-osteoarthritis syndrome
GLikely pathogenic
SMAD3
(E52G)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
Duplication
(inframe_insertion +1 more)
Aneurysm-osteoarthritis syndrome
GUncertain significance
LOC130057352, SMAD3
Single nucleotide variant
(5 prime UTR variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
(L125H +5 more)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
(Y127C +3 more)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
LOC130057352, SMAD3
Single nucleotide variant
(synonymous variant)
Aneurysm-osteoarthritis syndrome
GLikely benign
SMAD3
Single nucleotide variant
(synonymous variant +1 more)
Aneurysm-osteoarthritis syndrome
GLikely benign
SMAD3
(R138L +5 more)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
(R41L +2 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
(I55S)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
(K63E)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
(M10T +3 more)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
Single nucleotide variant
(synonymous variant)
Aneurysm-osteoarthritis syndrome
GLikely benign
SMAD3
(S37N)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
Single nucleotide variant
(intron variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
Single nucleotide variant
(intron variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
(E152A +7 more)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
(D115E +5 more)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
LOC130057352, SMAD3
Deletion
(5 prime UTR variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
Single nucleotide variant
(synonymous variant)
Aneurysm-osteoarthritis syndrome
GLikely benign
SMAD3
Deletion
(splice acceptor variant)
Aneurysm-osteoarthritis syndrome
GLikely pathogenic
SMAD3
Single nucleotide variant
(intron variant)
Aneurysm-osteoarthritis syndrome
GLikely benign
SMAD3
(I104M +5 more)
Single nucleotide variant
(missense variant +1 more)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
(P100L +5 more)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
(A101T +5 more)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
Single nucleotide variant
(synonymous variant)
Aneurysm-osteoarthritis syndrome
GLikely benign
SMAD3
(T142S +5 more)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
Single nucleotide variant
(synonymous variant)
Aneurysm-osteoarthritis syndrome
GLikely benign
SMAD3
Single nucleotide variant
(synonymous variant)
Aneurysm-osteoarthritis syndrome
GLikely benign
SMAD3
Single nucleotide variant
(synonymous variant)
Aneurysm-osteoarthritis syndrome
GLikely benign
SMAD3
Single nucleotide variant
(synonymous variant +1 more)
Aneurysm-osteoarthritis syndrome
GLikely benign
SMAD3
(E102fs +2 more)
Insertion
(5 prime UTR variant +1 more)
Aneurysm-osteoarthritis syndrome
GLikely pathogenic
SMAD3
(D115G +5 more)
Single nucleotide variant
(missense variant +1 more)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
Single nucleotide variant
(synonymous variant +1 more)
Aneurysm-osteoarthritis syndrome
GLikely benign
SMAD3
(P133L +5 more)
Single nucleotide variant
(missense variant +1 more)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
Single nucleotide variant
(intron variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
Single nucleotide variant
(synonymous variant)
Aneurysm-osteoarthritis syndrome
GLikely benign
SMAD3
(L205P +7 more)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
LOC130057352, SMAD3
Single nucleotide variant
(5 prime UTR variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
Insertion
(inframe_insertion)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
Insertion
(inframe_indel)
Aneurysm-osteoarthritis syndrome
GUncertain significance
LOC130057352, SMAD3
Single nucleotide variant
(synonymous variant)
Aneurysm-osteoarthritis syndrome
GLikely benign
SMAD3
(E113K +3 more)
Single nucleotide variant
(missense variant +1 more)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
(P103L +3 more)
Single nucleotide variant
(missense variant +1 more)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
Single nucleotide variant
(synonymous variant +1 more)
Aneurysm-osteoarthritis syndrome
GLikely benign
SMAD3
Single nucleotide variant
(intron variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
(P132S +4 more)
Single nucleotide variant
(missense variant +1 more)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
(Q23R)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
(P133S +4 more)
Single nucleotide variant
(missense variant +1 more)
Aneurysm-osteoarthritis syndrome
+1 more
GUncertain significance
SMAD3
(N232S +5 more)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
+1 more
GUncertain significance
SMAD3
(P133S +3 more)
Single nucleotide variant
(missense variant +1 more)
Aneurysm-osteoarthritis syndrome
+1 more
GUncertain significance
LOC130057352, SMAD3
Single nucleotide variant
(synonymous variant)
Aneurysm-osteoarthritis syndrome
+1 more
GLikely benign
LOC130057352, SMAD3
(P9S)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
+1 more
GUncertain significance
SMAD3
(C158Y +5 more)
Single nucleotide variant
(missense variant +1 more)
Aneurysm-osteoarthritis syndrome
+1 more
GUncertain significance
SMAD3
(G125D +3 more)
Single nucleotide variant
(missense variant +1 more)
Aneurysm-osteoarthritis syndrome
+1 more
GConflicting classifications of pathogenicity
SMAD3
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
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
(R173Q +7 more)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
+1 more
GUncertain significance
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
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
SMAD3
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
SMAD3
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
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
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
LOC130057352, SMAD3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GConflicting classifications of pathogenicity
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
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome
+1 more
GConflicting classifications of pathogenicity
SMAD3
(S129F +3 more)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
+1 more
GUncertain significance
SMAD3
(A187V +3 more)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
+2 more
GUncertain significance
SMAD3
(E32D)
Single nucleotide variant
not provided
+2 more
GUncertain significance
SMAD3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
SMAD3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GConflicting classifications of pathogenicity
SMAD3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
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)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
SMAD3
Single nucleotide variant
(synonymous variant)
Aneurysm-osteoarthritis syndrome
+1 more
GLikely benign
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)
Aneurysm-osteoarthritis syndrome
+1 more
GLikely benign
SMAD3
(Y189C +3 more)
Single nucleotide variant
(missense variant)
Aneurysm-osteoarthritis syndrome
GUncertain significance
SMAD3
(D157N +3 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SMAD3
(M106T +2 more)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
SMAD3
Single nucleotide variant
(synonymous variant)
Aneurysm-osteoarthritis syndrome
+1 more
GLikely benign
LOC130057352, SMAD3
(M1I)
Single nucleotide variant
(missense variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GPathogenic/Likely pathogenic
SMAD3
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
SMAD3
(L16V)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
SMAD3
(A158T +3 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
SMAD3
Single nucleotide variant
(synonymous variant +1 more)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
SMAD3
(R225H +3 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
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