Links from MedGen
Items: 8
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | | Single nucleotide variant (3 prime UTR variant +2 more) | Partial agenesis of the corpus callosum | |
| | | Single nucleotide variant (missense variant +1 more) | Partial agenesis of the corpus callosum | |
| | | Single nucleotide variant (splice acceptor variant) | TAF8-related condition +3 more | |
| | | Copy number gain | Echogenic fetal bowel +4 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O +10 more | GConflicting classifications of pathogenicity |
| | | Translocation | Hypoplasia of the frontal lobes +11 more | |
| | | Translocation | Partial agenesis of the corpus callosum +1 more | |
| | | Translocation | Interictal epileptiform activity +5 more | |
Click to view in NCBI Gene