Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | | Copy number loss | Intellectual disability, mild +7 more | |
| | | Copy number gain | Intellectual disability, mild +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +9 more | GPathogenic/Likely pathogenic |
| | SYNGAP1, SYNGAP1-AS1 (R687*) | Single nucleotide variant (nonsense) | not provided +15 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | High palate +6 more | |
| | | Translocation | Cerebral calcification +12 more | |
| | | Translocation | Abnormality of the musculature +11 more | |
| | | Inversion | Hypertelorism +20 more | |
| | | Single nucleotide variant (nonsense) | Hypertelorism +9 more | |
| | | Translocation | Hypertelorism +13 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly +10 more | |
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