Links from MedGen
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (inframe_deletion) | Primary dilated cardiomyopathy +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Multiple joint contractures +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant) | Multiple joint contractures +2 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa 39 +15 more | |
| | | Single nucleotide variant (missense variant) | Cognitive impairment +12 more | |
| | | Deletion (frameshift variant +1 more) | Usher syndrome type 2A | |
| | | Copy number loss | Ventriculomegaly +6 more | |
| | | Deletion (frameshift variant) | Ventriculomegaly +4 more | |
| | | Single nucleotide variant (nonsense) | Polyhydramnios +1 more | |
| | | Deletion (frameshift variant) | Retinitis pigmentosa 39 +22 more | |
Click to view in NCBI Gene