Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | Exstrophy-epispadias complex +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Exstrophy-epispadias complex | |
| | | Single nucleotide variant (missense variant) | Exstrophy-epispadias complex | |
| | LOC126862157, RPL4 (R204L) | Single nucleotide variant (missense variant) | Exstrophy-epispadias complex | |
| | | Single nucleotide variant (missense variant) | Exstrophy-epispadias complex | |
| | HSD11B1, HSD11B1-AS1 (V227fs) | Insertion (frameshift variant) | Exstrophy-epispadias complex | |
| | | Single nucleotide variant (missense variant +1 more) | Exstrophy-epispadias complex | |
| | | Single nucleotide variant (missense variant) | Exstrophy-epispadias complex +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Exstrophy-epispadias complex +2 more | GConflicting classifications of pathogenicity |
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