Links from PubMed
Items: 13
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Freeman-Sheldon syndrome | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, distal, type 2B3 | |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, distal, type 2B3 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | MYH3-related disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Arthrogryposis, distal, type 2B3 +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | Arthrogryposis, distal, type 2B3 | |
| | | Single nucleotide variant (missense variant) | Freeman-Sheldon syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
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