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Links from MedGen

Items: 1 to 100 of 597

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GLikely benign
PIK3CA
Single nucleotide variant
(synonymous variant)
Cowden syndrome
GLikely benign
PIK3CA
(E476K)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
Single nucleotide variant
(synonymous variant)
Cowden syndrome
GLikely benign
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GLikely benign
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GLikely benign
PIK3CA
Single nucleotide variant
(synonymous variant)
Cowden syndrome
GUncertain significance
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GLikely benign
PIK3CA
Single nucleotide variant
(synonymous variant)
Cowden syndrome
GLikely benign
PIK3CA
Single nucleotide variant
(synonymous variant)
Cowden syndrome
GLikely benign
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GLikely benign
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GLikely benign
PIK3CA
(L21I)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GUncertain significance
PTEN
Deletion
(nonsense +1 more)
Cowden syndrome
GPathogenic
PTEN
Indel
(intron variant)
PTEN hamartoma tumor syndrome
+4 more
Gnot provided
PTEN
(S170fs +1 more)
Deletion
(frameshift variant +1 more)
Cowden syndrome
+1 more
GPathogenic
PIK3CA
Single nucleotide variant
(synonymous variant)
Cowden syndrome
GLikely benign
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GLikely benign
PIK3CA
(R899C)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GLikely benign
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GLikely benign
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GLikely benign
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GLikely benign
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GUncertain significance
PIK3CA
Single nucleotide variant
(synonymous variant)
Cowden syndrome
GLikely benign
PIK3CA
Single nucleotide variant
(synonymous variant)
Cowden syndrome
GLikely benign
PIK3CA
(L156V)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
Single nucleotide variant
(synonymous variant)
Cowden syndrome
GLikely benign
PIK3CA
Single nucleotide variant
(synonymous variant)
Cowden syndrome
GUncertain significance
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GLikely benign
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GLikely benign
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GLikely benign
PIK3CA
(R612*)
Single nucleotide variant
(nonsense)
Cowden syndrome
GUncertain significance
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GUncertain significance
PIK3CA
Single nucleotide variant
(synonymous variant)
Cowden syndrome
GLikely benign
PIK3CA
Single nucleotide variant
(synonymous variant)
Cowden syndrome
GUncertain significance
PIK3CA
(D830V)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
PIK3CA
(Y392C)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GUncertain significance
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GLikely benign
PIK3CA
(V616I)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GLikely benign
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GLikely benign
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome 5
+1 more
GConflicting classifications of pathogenicity
PIK3CA
(P283A)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
(L658F)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
(H875R)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GLikely benign
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GUncertain significance
PIK3CA
Single nucleotide variant
(synonymous variant)
Cowden syndrome
GLikely benign
PIK3CA
(E494Q)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GLikely benign
PIK3CA
(V105A)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
(I311T)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GLikely benign
PIK3CA
(D608E)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GUncertain significance
PIK3CA
(I534L)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GLikely benign
PIK3CA
(S161G)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GUncertain significance
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GLikely benign
PIK3CA
(M1004I)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
Single nucleotide variant
(synonymous variant)
Cowden syndrome
GLikely benign
PIK3CA
Deletion
(intron variant)
Cowden syndrome
GBenign
PIK3CA
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
PIK3CA
(N284S)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
(P377L)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GLikely benign
PIK3CA
(Y165H)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
(A511T)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GLikely benign
PIK3CA
Single nucleotide variant
(synonymous variant)
Cowden syndrome
GLikely benign
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GLikely benign
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GLikely benign
PIK3CA
(M318V)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GLikely benign
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GLikely benign
PIK3CA
Single nucleotide variant
(synonymous variant)
Cowden syndrome
GLikely benign
PIK3CA
(F666Y)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
Single nucleotide variant
(synonymous variant)
Cowden syndrome
GLikely benign
PIK3CA
Deletion
(intron variant)
Cowden syndrome
GLikely benign
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GLikely benign
PIK3CA
(P217S)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
(E722del)
Deletion
(inframe_deletion)
Cowden syndrome
GUncertain significance
PIK3CA
(A150V)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
(Y890D)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
(K132N)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GLikely benign
PIK3CA
(G411A)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
(I427V)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
(R740S)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
PIK3CA
(T324I)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GLikely benign
PIK3CA
(L961S)
Single nucleotide variant
(missense variant)
Cowden syndrome
GUncertain significance
PIK3CA
Microsatellite
(intron variant)
Cowden syndrome
GLikely benign
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome
GLikely benign
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