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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AKT1
(E17K)
Single nucleotide variant
(missense variant)
Cowden syndrome 6
+2 more
GPathogenic
PIK3CA
(E545K)
Single nucleotide variant
(missense variant)
Segmental undergrowth associated with lymphatic malformation
+4 more
GPathogenic/Likely pathogenic
PIK3CA
(Q546E)
Single nucleotide variant
(missense variant)
Uterine carcinosarcoma
+13 more
GPathogenic/Likely pathogenic
PIK3CA
(H1047L)
Single nucleotide variant
(missense variant)
Colorectal cancer
+6 more
GPathogenic
PIK3CA
(H1047R)
Single nucleotide variant
(missense variant)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
GPathogenic
KRAS
(G13D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GConflicting classifications of pathogenicity
TP53
(P151S +2 more)
Single nucleotide variant
(missense variant +1 more)
Li-Fraumeni syndrome 1
+3 more
GPathogenic/Likely pathogenic
TP53
(P151T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
SLC22A18
Insertion
Breast adenocarcinoma
GPathogenic
RB1CC1
Deletion
Breast adenocarcinoma
GPathogenic
RB1CC1
Deletion
Breast adenocarcinoma
GPathogenic
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