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Links from MedGen

Items: 1 to 100 of 471

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
Single nucleotide variant
(synonymous variant)
Cowden syndrome 6
GUncertain significance
AKT1
(E375K)
Single nucleotide variant
(missense variant)
Cowden syndrome 6
GUncertain significance
AKT1
(N324S)
Single nucleotide variant
(missense variant)
Cowden syndrome 6
GUncertain significance
AKT1
Duplication
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GUncertain significance
AKT1
(E397A)
Single nucleotide variant
(missense variant)
Cowden syndrome 6
GUncertain significance
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
Single nucleotide variant
(synonymous variant)
Cowden syndrome 6
GLikely benign
AKT1
(N54I)
Single nucleotide variant
(missense variant)
Cowden syndrome 6
GUncertain significance
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
(E440K)
Single nucleotide variant
(missense variant)
Cowden syndrome 6
GUncertain significance
AKT1
(P467S)
Single nucleotide variant
(missense variant)
Cowden syndrome 6
GUncertain significance
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
Single nucleotide variant
(synonymous variant)
Cowden syndrome 6
GLikely benign
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
(V145L)
Single nucleotide variant
(missense variant)
Cowden syndrome 6
GUncertain significance
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
(I449F)
Single nucleotide variant
(missense variant)
Cowden syndrome 6
GUncertain significance
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
Deletion
(inframe_deletion)
Cowden syndrome 6
GUncertain significance
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
(I19V)
Single nucleotide variant
(missense variant)
Cowden syndrome 6
GUncertain significance
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
(Y340*)
Single nucleotide variant
(nonsense)
Cowden syndrome 6
GUncertain significance
AKT1
Single nucleotide variant
(synonymous variant)
Cowden syndrome 6
GLikely benign
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
Single nucleotide variant
(synonymous variant)
Cowden syndrome 6
GLikely benign
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
Single nucleotide variant
(synonymous variant)
Cowden syndrome 6
GLikely benign
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GUncertain significance
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
(D453H)
Single nucleotide variant
(missense variant)
Cowden syndrome 6
GUncertain significance
AKT1
(R96W)
Single nucleotide variant
(missense variant)
Cowden syndrome 6
GUncertain significance
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
(E94A)
Single nucleotide variant
(missense variant)
Cowden syndrome 6
GUncertain significance
AKT1
Single nucleotide variant
(synonymous variant)
Cowden syndrome 6
GUncertain significance
AKT1, ZBTB42
Duplication
Cowden syndrome 6
GUncertain significance
AKT1
Duplication
Cowden syndrome 6
GUncertain significance
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GUncertain significance
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
(Q47H)
Single nucleotide variant
(missense variant)
Cowden syndrome 6
GUncertain significance
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
(N31S)
Single nucleotide variant
(missense variant)
Cowden syndrome 6
GUncertain significance
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
Single nucleotide variant
(synonymous variant)
Cowden syndrome 6
GLikely benign
AKT1
(R406H)
Single nucleotide variant
(missense variant)
Cowden syndrome 6
GUncertain significance
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
Duplication
(intron variant)
Cowden syndrome 6
GUncertain significance
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
Single nucleotide variant
(synonymous variant)
Cowden syndrome 6
GLikely benign
AKT1
(F120L)
Single nucleotide variant
(missense variant)
Cowden syndrome 6
GUncertain significance
AKT1
(V145M)
Single nucleotide variant
(missense variant)
Cowden syndrome 6
GUncertain significance
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
(A50T)
Single nucleotide variant
(missense variant)
Cowden syndrome 6
GUncertain significance
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
(L153P)
Single nucleotide variant
(missense variant)
Cowden syndrome 6
GUncertain significance
AKT1
(R466K)
Single nucleotide variant
(missense variant)
Cowden syndrome 6
GUncertain significance
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
Single nucleotide variant
(splice acceptor variant)
Cowden syndrome 6
GUncertain significance
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GUncertain significance
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
Microsatellite
(inframe_insertion)
Cowden syndrome 6
GUncertain significance
AKT1
Single nucleotide variant
(synonymous variant)
Cowden syndrome 6
GLikely benign
AKT1
(P42L)
Single nucleotide variant
(missense variant)
Cowden syndrome 6
GUncertain significance
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
(A139V)
Single nucleotide variant
(missense variant)
Cowden syndrome 6
GUncertain significance
AKT1
(P208A)
Single nucleotide variant
(missense variant)
Cowden syndrome 6
GUncertain significance
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
(C77F)
Single nucleotide variant
(missense variant)
Cowden syndrome 6
GUncertain significance
AKT1
(G373S)
Single nucleotide variant
(missense variant)
Cowden syndrome 6
GUncertain significance
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
(I6T)
Single nucleotide variant
(missense variant)
Cowden syndrome 6
GUncertain significance
AKT1
Single nucleotide variant
(synonymous variant)
Cowden syndrome 6
GLikely benign
AKT1
(M458K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AKT1
Single nucleotide variant
(synonymous variant)
Cowden syndrome 6
GLikely benign
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
(D221G)
Single nucleotide variant
(missense variant)
Cowden syndrome 6
GUncertain significance
AKT1
(I165F)
Single nucleotide variant
(missense variant)
Cowden syndrome 6
GUncertain significance
AKT1
(G254S)
Single nucleotide variant
(missense variant)
Cowden syndrome 6
GUncertain significance
AKT1
(T105S)
Single nucleotide variant
(missense variant)
Cowden syndrome 6
GUncertain significance
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GUncertain significance
AKT1
Single nucleotide variant
(synonymous variant)
Cowden syndrome 6
+1 more
GLikely benign
AKT1
Single nucleotide variant
(synonymous variant)
Cowden syndrome 6
GLikely benign
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
Single nucleotide variant
(intron variant)
Cowden syndrome 6
GLikely benign
AKT1
Single nucleotide variant
(synonymous variant)
Cowden syndrome 6
GLikely benign
AKT1
Single nucleotide variant
(synonymous variant)
Cowden syndrome 6
+2 more
GLikely benign
AKT1
(E247K)
Single nucleotide variant
(missense variant)
Cowden syndrome 6
GUncertain significance
AKT1
(N128I)
Single nucleotide variant
(missense variant)
Cowden syndrome 6
GUncertain significance
AKT1
(R370S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
AKT1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
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