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Items: 1 to 100 of 966

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057806, LOC130057807
+1763 more
Copy number gain
See cases
GPathogenic
SMAD6
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
SMAD6
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
SMAD6
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
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
SMAD6
(M1fs)
Deletion
(frameshift variant +2 more)
SMAD6-related disorder
GUncertain significance
SMAD6
(M1V)
Single nucleotide variant
(missense variant +2 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(M1K)
Single nucleotide variant
(missense variant +2 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(M1T)
Single nucleotide variant
(missense variant +2 more)
Aortic valve disease 2
+1 more
GUncertain significance
SMAD6
(F2fs)
Duplication
(frameshift variant +2 more)
Radioulnar synostosis
GPathogenic
SMAD6
(M1R)
Single nucleotide variant
(missense variant +2 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(F2V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMAD6
(R3K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
SMAD6
(R3S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMAD6
Single nucleotide variant
(synonymous variant +1 more)
Aortic valve disease 2
GLikely benign
SMAD6
(G8fs)
Duplication
(frameshift variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(R6C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SMAD6
Single nucleotide variant
(synonymous variant +1 more)
Aortic valve disease 2
GLikely benign
SMAD6
(S7P)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(S7*)
Single nucleotide variant
(nonsense +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(L9fs)
Deletion
(frameshift variant +1 more)
Radioulnar synostosis
GPathogenic
SMAD6
Single nucleotide variant
(non-coding transcript variant +1 more)
Aortic valve disease 2
GLikely benign
SMAD6
(L9V)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
+1 more
GUncertain significance
SMAD6
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+1 more
GLikely benign
SMAD6
(L9Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMAD6
(L9P)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(V10L)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(V10G)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(R11Q)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(R12*)
Single nucleotide variant
(nonsense +1 more)
Aortic valve disease 2
+1 more
GConflicting classifications of pathogenicity
SMAD6
(R12Q)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(W14fs)
Deletion
(frameshift variant +1 more)
not provided
GLikely pathogenic
SMAD6
(L13H)
Single nucleotide variant
(missense variant +1 more)
Radioulnar synostosis
GLikely pathogenic
SMAD6
(L13R)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(W14R)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
SMAD6
(W14*)
Single nucleotide variant
(nonsense +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(W14*)
Single nucleotide variant
(nonsense +1 more)
Aneurysm-osteoarthritis syndrome
+1 more
GUncertain significance
SMAD6
(R15*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SMAD6
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
GLikely benign
SMAD6
(R15G)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
+1 more
GUncertain significance
SMAD6
(R17S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMAD6
(R17H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMAD6
(V18fs)
Deletion
(frameshift variant +1 more)
SMAD6-related disorder
GUncertain significance
SMAD6
(V18G)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
+1 more
GUncertain significance
SMAD6
(V19F)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(V19L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMAD6
(D21N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GBenign/Likely benign
SMAD6
Single nucleotide variant
(synonymous variant +1 more)
Aortic valve disease 2
GLikely benign
SMAD6
(R22Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMAD6
(E23fs)
Deletion
(frameshift variant +1 more)
Radioulnar synostosis
GPathogenic
SMAD6
(E23K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMAD6
(E24G)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
+1 more
GUncertain significance
SMAD6
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+1 more
GLikely benign
SMAD6
Duplication
(inframe_insertion +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
Deletion
(inframe_deletion +1 more)
Aortic valve disease 2
+3 more
GUncertain significance
SMAD6
Single nucleotide variant
(synonymous variant +1 more)
Aortic valve disease 2
+1 more
GLikely benign
SMAD6
Microsatellite
(inframe_insertion +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(S27G)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
+1 more
GLikely benign
SMAD6
(S27N)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
Duplication
(inframe_insertion +1 more)
Heart, malformation of
+2 more
GUncertain significance
SMAD6
Single nucleotide variant
(synonymous variant +1 more)
Aortic valve disease 2
GLikely benign
SMAD6
(G28S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
SMAD6
Single nucleotide variant
(synonymous variant +1 more)
Aortic valve disease 2
+1 more
GLikely benign
SMAD6
(G29S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMAD6
Deletion
(inframe_deletion +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
Duplication
(non-coding transcript variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(G29A)
Single nucleotide variant
(missense variant +1 more)
Thoracic aortic aneurysm
GLikely pathogenic
SMAD6
(G30A)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(G33del)
Deletion
(inframe_deletion +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(G31S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
SMAD6
Single nucleotide variant
(synonymous variant +1 more)
Aortic valve disease 2
GLikely benign
SMAD6
Microsatellite
(inframe_insertion +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
Single nucleotide variant
(synonymous variant +1 more)
Aortic valve disease 2
+2 more
GBenign/Likely benign
SMAD6
(G33S)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(G33C)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
Single nucleotide variant
(synonymous variant +1 more)
Aortic valve disease 2
GLikely benign
SMAD6
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+1 more
GLikely benign
SMAD6
(E35G)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
+1 more
GUncertain significance
SMAD6
(D36fs)
Duplication
(frameshift variant +1 more)
Radioulnar synostosis
GPathogenic
SMAD6
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
GLikely benign
SMAD6
(E44fs)
Duplication
(frameshift variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(D36Y)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(D36N)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(D36A)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(D36V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMAD6
(D36G)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
+1 more
GUncertain significance
SMAD6
(S38R)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(L39V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SMAD6
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign
SMAD6
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+3 more
GBenign/Likely benign
SMAD6
(R42*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SMAD6
(R42Q)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
+1 more
GUncertain significance
SMAD6
(A43P)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(P45R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
SMAD6
Single nucleotide variant
(synonymous variant +1 more)
Aortic valve disease 2
GLikely benign
SMAD6
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+1 more
GLikely benign
SMAD6
(A46fs)
Deletion
(frameshift variant +1 more)
Radioulnar synostosis
GPathogenic
SMAD6
(A46V)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(P47S)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GBenign
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