Links from MedGen
Items: 8
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | LOC121048724, LOC121048725 +160 more | Copy number loss | Esodeviation +7 more | |
| | | Single nucleotide variant (missense variant) | Hypotonia +3 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Disorder of sexual differentiation +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ambiguous genitalia | |
| | | Single nucleotide variant (nonsense) | Finger syndactyly +9 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Generalized hypotonia +4 more | |
| | | Inversion | Ambiguous genitalia +2 more | |
| | | Single nucleotide variant (nonsense) | See cases +9 more | |
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