Links from MedGen
Items: 16
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | | Single nucleotide variant (missense variant) | Pericallosal lipoma +9 more | |
| | | Copy number gain | Facial asymmetry | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +6 more | |
| | | Single nucleotide variant (intron variant) | not provided +9 more | GConflicting classifications of pathogenicity |
| | | Indel (splice acceptor variant) | Two-raphe bicuspid aortic valve +6 more | |
| | | Copy number loss | Frontal bossing +2 more | |
| | | Single nucleotide variant (intron variant) | Cowden syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Rhabdoid tumor predisposition syndrome 2 +6 more | GConflicting classifications of pathogenicity |
| | | Translocation | Cleft soft palate +13 more | |
| | | Translocation | Facial asymmetry +8 more | |
| | | Translocation | Male infertility +14 more | |
| | | Translocation | Delayed speech and language development +9 more | |
| | | Translocation | Corpus callosum, agenesis of +24 more | |
| | | Translocation | Abnormal facial skeleton morphology +18 more | |
| | | Single nucleotide variant (missense variant +1 more) | FGFR3-related chondrodysplasia +25 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | not provided +25 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene