Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cowden syndrome 6 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Uterine carcinosarcoma +13 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hemihypertrophy +6 more | |
| | | Single nucleotide variant (missense variant) | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | |
| | | Single nucleotide variant (missense variant) | KRAS-related disorder +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Li-Fraumeni syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Li-Fraumeni syndrome 1 +4 more | GPathogenic/Likely pathogenic |
| | | Insertion | Breast adenocarcinoma | |
| | | Deletion | Breast adenocarcinoma | |
| | | Deletion | Breast adenocarcinoma | |
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