Links from MedGen
Items: 8
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Gastroesophageal reflux +11 more | |
| | | Single nucleotide variant (missense variant) | Aspiration pneumonia +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Myopathy +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 1 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Lynch syndrome | |
Click to view in NCBI Gene