Links from MedGen
Items: 12
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | RPL17, RPL17-C18orf32 (T113fs +3 more) | Deletion (frameshift variant) | Autism +9 more | |
| | | Single nucleotide variant (missense variant) | not provided +12 more | |
| | | Copy number loss | Pes valgus +9 more | |
| | SYNGAP1, SYNGAP1-AS1 (R687*) | Single nucleotide variant (nonsense) | See cases +15 more | GPathogenic/Likely pathogenic |
| | | Translocation | Anteriorly placed anus +13 more | |
| | | Translocation | Narrow nasal base +9 more | |
| | | Inversion | Global developmental delay +14 more | |
| | | Inversion | Prominent forehead +9 more | |
| | | Single nucleotide variant (missense variant) | Sotos syndrome +16 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +13 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Pfeiffer syndrome +25 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Pulmonary arterial hypertension | |
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