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Links from MedGen

Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIK3CA
(D625N)
Single nucleotide variant
(missense variant)
Cowden syndrome 5
GUncertain significance
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome 5
+1 more
GConflicting classifications of pathogenicity
PIK3CA
(M1T)
Single nucleotide variant
(missense variant +1 more)
Cowden syndrome 5
GUncertain significance
PIK3CA
(N107S)
Single nucleotide variant
(missense variant)
Cowden syndrome 5
GUncertain significance
PIK3CA
(R537Q)
Single nucleotide variant
(missense variant)
Cowden syndrome 5
GUncertain significance
PIK3CA
(C215Y)
Single nucleotide variant
(missense variant)
Cowden syndrome 5
+2 more
GUncertain significance
PIK3CA
(C844R)
Single nucleotide variant
(missense variant)
Cowden syndrome 5
+1 more
GUncertain significance
PIK3CA
(V146I)
Single nucleotide variant
(missense variant)
not provided
+14 more
GUncertain significance
PIK3CA
(K884R)
Single nucleotide variant
(missense variant)
Cowden syndrome
+16 more
GUncertain significance
PIK3CA
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
PIK3CA
Single nucleotide variant
(synonymous variant)
Cowden syndrome 5
+3 more
GBenign/Likely benign
PIK3CA
(P377R)
Single nucleotide variant
(missense variant)
Cowden syndrome
+14 more
GUncertain significance
PIK3CA
(V344M)
Single nucleotide variant
(missense variant)
PIK3CA related overgrowth syndrome
+3 more
GPathogenic
PIK3CA
(K111E)
Single nucleotide variant
(missense variant)
Cowden syndrome 5
GPathogenic
PIK3CA
(N345K)
Single nucleotide variant
(missense variant)
not provided
+14 more
GPathogenic
PIK3CA
(R88Q)
Single nucleotide variant
(missense variant)
PIK3CA related overgrowth syndrome
+4 more
GPathogenic
PIK3CA
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome 5
+3 more
GBenign
PIK3CA
Single nucleotide variant
(intron variant)
Cowden syndrome 5
+3 more
GBenign
PIK3CA
Single nucleotide variant
(synonymous variant)
Cowden syndrome
+2 more
GConflicting classifications of pathogenicity
PIK3CA
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
PIK3CA
Single nucleotide variant
(synonymous variant)
Cowden syndrome
+4 more
GLikely benign
PIK3CA
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
PIK3CA
(E545A +1 more)
Single nucleotide variant
(missense variant +1 more)
Cowden syndrome 5
GPathogenic
PIK3CA
Single nucleotide variant
(synonymous variant)
Cowden syndrome 5
+5 more
GBenign/Likely benign
PIK3CA
(L632*)
Single nucleotide variant
(nonsense)
Cowden syndrome 5
GPathogenic
PIK3CA
(R382K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PIK3CA
(V356I)
Single nucleotide variant
(missense variant)
Cowden syndrome 5
GPathogenic
PIK3CA
(E218K)
Single nucleotide variant
(missense variant)
Cowden syndrome 5
GPathogenic
PIK3CA
(E135K)
Single nucleotide variant
(missense variant)
Cowden syndrome 5
GPathogenic
PIK3CA
(G118D)
Single nucleotide variant
(missense variant)
Cowden syndrome
+2 more
GPathogenic
PIK3CA
(I391M)
Single nucleotide variant
(missense variant)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
GBenign
PIK3CA
Single nucleotide variant
(synonymous variant)
Cowden syndrome
+3 more
GBenign/Likely benign
PIK3CA
(H1047Y)
Single nucleotide variant
(missense variant)
Cowden syndrome
+17 more
GPathogenic
PIK3CA
(G914R)
Single nucleotide variant
(missense variant)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
GPathogenic
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