Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Seizure +8 more | |
| | | Single nucleotide variant (missense variant) | Seizure +8 more | |
| | | Single nucleotide variant (missense variant) | Hypospadias | |
| | | Single nucleotide variant (missense variant +1 more) | Hypospadias +5 more | |
| | | Single nucleotide variant (missense variant) | Hypospadias | |
| | | Single nucleotide variant (missense variant) | Hypospadias | |
| | | Single nucleotide variant (missense variant +1 more) | Hypospadias | |
| | | Single nucleotide variant (missense variant) | Hypospadias | |
| | | Single nucleotide variant (missense variant +1 more) | Hypospadias +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypospadias | |
| | | Single nucleotide variant (missense variant) | Macrocephaly +3 more | |
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