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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTNNB1, LOC126806658
(D32Y +1 more)
Single nucleotide variant
(missense variant)
Gastric adenocarcinoma
+10 more
GPathogenic/Likely pathogenic; other
CTNNB1, LOC126806658
(S33C +1 more)
Single nucleotide variant
(missense variant)
Malignant melanoma of skin
+13 more
GLikely pathogenic; other
LOC126806658, CTNNB1
(S33F +1 more)
Single nucleotide variant
(missense variant)
Carcinoma of esophagus
+13 more
GPathogenic/Likely pathogenic; other
CTNNB1, LOC126806658
(G34E +1 more)
Single nucleotide variant
(missense variant)
Malignant neoplasm of body of uterus
+9 more
GPathogenic/Likely pathogenic; other
CTNNB1, LOC126806658
(T41A +1 more)
Single nucleotide variant
(missense variant)
Desmoid tumor
GLikely pathogenic
LOC126806658, CTNNB1
(S45F +1 more)
Single nucleotide variant
(missense variant)
Adrenal cortex carcinoma
+11 more
GPathogenic/Likely pathogenic; other
PIK3CA
(H1047R)
Single nucleotide variant
(missense variant)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
GPathogenic
SET
(E247G +3 more)
Single nucleotide variant
(missense variant)
Hepatocellular carcinoma
Gother
TP53
(R248Q +3 more)
Single nucleotide variant
(missense variant)
Li-Fraumeni syndrome
GPathogenic
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