Links from MedGen
Items: 16
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Seizure +7 more | |
| | | Single nucleotide variant (missense variant) | Microretrognathia +11 more | |
| | FLNA, LOC107988032 (S2550fs +1 more) | Deletion (frameshift variant) | Patent ductus arteriosus +2 more | |
| | | Single nucleotide variant (missense variant) | Patent ductus arteriosus +2 more | |
| | | Single nucleotide variant (nonsense) | Patent ductus arteriosus +2 more | |
| | | Translocation | Delayed speech and language development +19 more | |
| | | Translocation | Hypotonia +11 more | |
| | | Inversion | Patent ductus arteriosus +2 more | |
| | | Inversion | Hypotonia +22 more | |
| | | Translocation | Isolated Pierre-Robin syndrome +14 more | |
| | | Single nucleotide variant (missense variant) | Sacral defect with anterior meningocele +18 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Oto-palato-digital syndrome, type II +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypertrichotic osteochondrodysplasia Cantu type +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | RASopathy | |
| | | Single nucleotide variant (missense variant) | Common Variable Immune Deficiency, Dominant +23 more | GConflicting classifications of pathogenicity; risk factor |
| | | Single nucleotide variant (missense variant) | Joubert syndrome and related disorders +20 more | GPathogenic/Likely pathogenic |
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