Links from MedGen
Items: 10
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Cardiomyopathy +3 more | |
| | | Microsatellite (inframe_deletion +1 more) | Congenital omphalocele +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital contracture | |
| | | Single nucleotide variant (synonymous variant) | PIEZO2-related disorder +1 more | |
| | | Single nucleotide variant (nonsense) | Lethal congenital contracture syndrome 11 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Proximal amyotrophy +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +7 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hip contracture +6 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 +14 more | GConflicting classifications of pathogenicity |
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