Links from MedGen
Items: 17
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Frontonasal dysplasia with alopecia and genital anomaly +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Frontonasal dysplasia with alopecia and genital anomaly | |
| | | Single nucleotide variant (missense variant) | Frontonasal dysplasia with alopecia and genital anomaly +1 more | |
| | | Single nucleotide variant (synonymous variant) | Parietal foramina 2 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Craniosynostosis 5, susceptibility to +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Frontonasal dysplasia with alopecia and genital anomaly +2 more | |
| | | Deletion (frameshift variant) | Frontonasal dysplasia with alopecia and genital anomaly | |
| | | Deletion (frameshift variant) | Frontonasal dysplasia with alopecia and genital anomaly | |
| | | Single nucleotide variant (missense variant) | Frontonasal dysplasia with alopecia and genital anomaly | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +1 more | |
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