| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | RASopathy | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Large congenital melanocytic nevus +4 more | |
| | | Single nucleotide variant (missense variant) | Large congenital melanocytic nevus +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Neoplasm of uterine cervix +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | Neoplasm of uterine cervix +5 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Neoplasm of uterine cervix +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Neoplasm of uterine cervix +5 more | |
| | | Single nucleotide variant (missense variant) | Breast neoplasm +3 more | |
| | | Single nucleotide variant (missense variant) | Breast neoplasm +4 more | |
| | | Single nucleotide variant (missense variant) | Breast neoplasm +15 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Adenoid cystic carcinoma +14 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Enchondromatosis +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Gastric adenocarcinoma +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Prostate adenocarcinoma +4 more | |
| | CTNNB1, LOC126806658 (D32N +1 more) | Single nucleotide variant (missense variant) | Juvenile nasopharyngeal angiofibroma | |
| | CTNNB1, LOC126806658 (D32H +1 more) | Single nucleotide variant (missense variant) | Neoplasm of uterine cervix +8 more | |
| | CTNNB1, LOC126806658 (D32Y +1 more) | Single nucleotide variant (missense variant) | Craniopharyngioma +11 more | GPathogenic/Likely pathogenic; other |
| | CTNNB1, LOC126806658 (D32V +1 more) | Single nucleotide variant (missense variant) | Medulloblastoma +8 more | |
| | CTNNB1, LOC126806658 (D32A +1 more) | Single nucleotide variant (missense variant) | Neoplasm of uterine cervix +8 more | |
| | CTNNB1, LOC126806658 (D32G +1 more) | Single nucleotide variant (missense variant) | Neoplasm of uterine cervix +10 more | GPathogenic/Likely pathogenic |
| | CTNNB1, LOC126806658 (S33T +1 more) | Single nucleotide variant (missense variant) | Carcinoma of esophagus +10 more | |
| | CTNNB1, LOC126806658 (S33A +1 more) | Single nucleotide variant (missense variant) | Carcinoma of esophagus +10 more | |
| | CTNNB1, LOC126806658 (S33P +1 more) | Single nucleotide variant (missense variant) | Carcinoma of esophagus +10 more | |
| | CTNNB1, LOC126806658 (S33C +1 more) | Single nucleotide variant (missense variant) | Carcinoma of esophagus +14 more | GLikely pathogenic; other |
| | CTNNB1, LOC126806658 (S33F +1 more) | Single nucleotide variant (missense variant) | Medulloblastoma +13 more | GPathogenic/Likely pathogenic; other |
| | CTNNB1, LOC126806658 (S33Y +1 more) | Single nucleotide variant (missense variant) | Pancreatic adenocarcinoma +13 more | GPathogenic/Likely pathogenic |
| | CTNNB1, LOC126806658 (G34R +1 more) | Single nucleotide variant (missense variant) | Gastric adenocarcinoma +9 more | |
| | CTNNB1, LOC126806658 (G34A +1 more) | Single nucleotide variant (missense variant) | Gastric adenocarcinoma +7 more | |
| | CTNNB1, LOC126806658 (G34E +1 more) | Single nucleotide variant (missense variant) | Medulloblastoma +9 more | GPathogenic/Likely pathogenic; other |
| | CTNNB1, LOC126806658 (G34V +1 more) | Single nucleotide variant (missense variant) | Hepatoblastoma +11 more | GConflicting classifications of pathogenicity |
| | CTNNB1, LOC126806658 (S37A +1 more) | Single nucleotide variant (missense variant) | Carcinoma of esophagus +9 more | |
| | CTNNB1, LOC126806658 (S37P +1 more) | Single nucleotide variant (missense variant) | Neoplasm of stomach +9 more | |
| | CTNNB1, LOC126806658 (S37Y +1 more) | Single nucleotide variant (missense variant) | Neoplasm of stomach +10 more | GPathogenic/Likely pathogenic |
| | CTNNB1, LOC126806658 (S37F +1 more) | Single nucleotide variant (missense variant) | Melanoma +11 more | GPathogenic/Likely pathogenic |
| | CTNNB1, LOC126806658 (S37C +1 more) | Single nucleotide variant (missense variant) | Lung adenocarcinoma +11 more | GPathogenic/Likely pathogenic |
| | CTNNB1, LOC126806658 (T41A +1 more) | Single nucleotide variant (missense variant) | Desmoid tumor | |
| | CTNNB1, LOC126806658 (T41N +1 more) | Single nucleotide variant (missense variant) | Prostate adenocarcinoma +7 more | |
| | CTNNB1, LOC126806658 (T41I +1 more) | Single nucleotide variant (missense variant) | Desmoid disease, hereditary | |
| | CTNNB1, LOC126806658 (S45P +1 more) | Single nucleotide variant (missense variant) | Neoplasm of the large intestine +11 more | GPathogenic/Likely pathogenic |
| | CTNNB1, LOC126806658 (S45C +1 more) | Single nucleotide variant (missense variant) | Prostate adenocarcinoma +8 more | |
| | CTNNB1, LOC126806658 (S45Y +1 more) | Single nucleotide variant (missense variant) | Prostate adenocarcinoma +8 more | GPathogenic/Likely pathogenic |
| | CTNNB1, LOC126806658 (S45F +1 more) | Single nucleotide variant (missense variant) | Neoplasm of the large intestine +11 more | GPathogenic/Likely pathogenic; other |
| | | Single nucleotide variant (missense variant) | Congenital macrodactylia +14 more | |
| | | Single nucleotide variant (missense variant) | Gastric adenocarcinoma +9 more | |
| | | Single nucleotide variant (missense variant) | CLOVES syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | Gastric adenocarcinoma +9 more | |
| | | Single nucleotide variant (missense variant) | Carcinoma of esophagus +17 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Carcinoma of esophagus +15 more | |
| | | Single nucleotide variant (missense variant) | Carcinoma of esophagus +16 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Small cell lung carcinoma +26 more | GPathogenic/Likely pathogenic; drug response |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Ovarian neoplasm | |
| | | Single nucleotide variant (missense variant) | PIK3CA related overgrowth syndrome | |
| | | Single nucleotide variant (missense variant) | Megalencephaly-capillary malformation-polymicrogyria syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +18 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +8 more | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes +1 more | |
| | | Single nucleotide variant (missense variant) | Pancreatic adenocarcinoma +21 more | |
| | | Single nucleotide variant (missense variant) | Lymphoblastic leukemia, acute, with lymphomatous features +5 more | |
| | | Single nucleotide variant (missense variant) | Medulloblastoma +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Melanoma-pancreatic cancer syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Gastric adenocarcinoma +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Melanoma-pancreatic cancer syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pancreatic adenocarcinoma +2 more | |
| | | Single nucleotide variant (missense variant) | Pancreatic adenocarcinoma +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple myeloma +13 more | |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Acute myeloid leukemia +12 more | |
| | | Single nucleotide variant (missense variant +1 more) | Neoplasm of uterine cervix +9 more | |
| | | Single nucleotide variant (missense variant +1 more) | Large congenital melanocytic nevus +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Noonan syndrome and Noonan-related syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Noonan syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Malignant tumor of urinary bladder +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | Costello syndrome | |
| | | Single nucleotide variant (missense variant) | Breast neoplasm +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Pancreatic adenocarcinoma +14 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Proteus syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Neoplasm of the large intestine +5 more | GPathogenic/Likely pathogenic; risk factor |
| | | Single nucleotide variant (missense variant) | Acute myocardial infarction +5 more | GPathogenic/Likely pathogenic; risk factor |
| | | Single nucleotide variant (missense variant) | Brainstem glioma +5 more | |
| | | Single nucleotide variant (missense variant) | Neoplasm of the large intestine +5 more | GLikely pathogenic; risk factor |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | Malignant melanoma of skin +11 more | |
| | | Single nucleotide variant (missense variant) | Adenoid cystic carcinoma +10 more | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Li-Fraumeni syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Li-Fraumeni syndrome | |
| | | Single nucleotide variant (missense variant) | Li-Fraumeni syndrome | |
| | | Single nucleotide variant (missense variant) | Li-Fraumeni syndrome 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Li-Fraumeni syndrome 1 +4 more | GPathogenic/Likely pathogenic |