Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (inframe_insertion) | Arthrogryposis, distal, type 1C | |
| | | Single nucleotide variant (missense variant) | Distal arthrogryposis +1 more | GPathogenic/Likely pathogenic |
| | LOC112441444, MYL11 (G163S) | Single nucleotide variant (missense variant) | Distal arthrogryposis +1 more | GPathogenic/Likely pathogenic |
| | LOC112441444, MYL11 (C157R) | Single nucleotide variant (missense variant) | Distal arthrogryposis +1 more | GPathogenic/Likely pathogenic |
| | LOC112441444, MYL11 (C157F) | Single nucleotide variant (missense variant) | Distal arthrogryposis +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene