U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 888

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMAD6
Single nucleotide variant
(synonymous variant +1 more)
Aortic valve disease 2
GLikely benign
SMAD6
Single nucleotide variant
(synonymous variant +1 more)
Aortic valve disease 2
GLikely benign
SMAD6
(K173N)
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
(P47L)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
TBX5
(G53E +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
GUncertain significance
SMAD6
(I466L)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(L360V)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(P263T)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(K242T)
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
(R231S)
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
(D140N)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
TBX5
(S30R)
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
(R91M)
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
(G271A)
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
TBX5
Single nucleotide variant
(intron variant)
Aortic valve disease 2
GLikely benign
TBX5
(L110P +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
GUncertain significance
TBX5
(S91C +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
GUncertain significance
SMAD6
(L165R)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
Single nucleotide variant
(splice donor variant)
Aortic valve disease 2
GUncertain significance
SMAD6
(E169*)
Single nucleotide variant
(non-coding transcript variant +1 more)
Aortic valve disease 2
GUncertain significance
TBX5
Single nucleotide variant
(intron variant)
Aortic valve disease 2
GLikely benign
TBX5
(H114Q +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
GUncertain significance
TBX5
(P287H +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
GUncertain significance
SMAD6
(S333N)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(G88V)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
TBX5
Single nucleotide variant
(synonymous variant)
Aortic valve disease 2
GLikely benign
SMAD6
Single nucleotide variant
(splice acceptor variant)
Aortic valve disease 2
GUncertain significance
SMAD6
(E185K)
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
(S94L)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
TBX5
Single nucleotide variant
(intron variant)
Aortic valve disease 2
GLikely benign
SMAD6
Single nucleotide variant
(synonymous variant +1 more)
Aortic valve disease 2
GLikely benign
SMAD6
(N462fs)
Duplication
(frameshift variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(G399C)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
TBX5
(P484S +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
GUncertain significance
SMAD6
(E489*)
Single nucleotide variant
(nonsense +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(A161S)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(K386N)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
TBX5
(Y380* +1 more)
Single nucleotide variant
(nonsense)
Aortic valve disease 2
GUncertain significance
SMAD6
(G155fs)
Duplication
(frameshift variant +1 more)
Aortic valve disease 2
GUncertain significance
TBX5
(E23Q +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
GLikely pathogenic
TBX5
(R81K +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
GUncertain significance
SMAD6
Single nucleotide variant
(synonymous variant +1 more)
Aortic valve disease 2
GLikely benign
SMAD6
(P117R)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(L207R)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
Single nucleotide variant
(intron variant)
Aortic valve disease 2
GLikely benign
TBX5
(L244P +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
GUncertain significance
TBX5
Deletion
(inframe_deletion)
Aortic valve disease 2
GUncertain significance
SMAD6
(D143V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Aortic valve disease 2
GUncertain significance
TBX5
(P297S +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
GUncertain significance
TBX5
(H177Y +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
GUncertain significance
SMAD6
Single nucleotide variant
(intron variant)
Aortic valve disease 2
GLikely benign
SMAD6
Single nucleotide variant
(synonymous variant +1 more)
Aortic valve disease 2
GLikely benign
SMAD6
Single nucleotide variant
(stop lost +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(D212G)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(E338D)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(G204V)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
Duplication
(inframe_insertion +1 more)
Aortic valve disease 2
GUncertain significance
TBX5
(M343V +1 more)
Single nucleotide variant
(missense variant)
Aortic valve disease 2
GUncertain significance
SMAD6
(K470Q)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(C205G)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(E442fs)
Deletion
(frameshift variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(E489K)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
(N494T)
Single nucleotide variant
(missense variant +1 more)
Aortic valve disease 2
GUncertain significance
SMAD6
Duplication
(inframe_insertion +1 more)
Aortic valve disease 2
GUncertain significance
TBX5
Deletion
(splice acceptor variant)
Aortic valve disease 2
GLikely pathogenic
Format
Items per page
Sort by
Choose Destination