Links from MedGen
Items: 8
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (inframe_deletion +1 more) | Lethal congenital contracture syndrome 8 | |
| | | Single nucleotide variant (missense variant +1 more) | Lethal congenital contracture syndrome 8 | |
| | | Single nucleotide variant (missense variant) | Lethal congenital contracture syndrome 8 +1 more | |
| | | Single nucleotide variant (missense variant) | Lethal congenital contracture syndrome 8 | |
| | | Single nucleotide variant (splice donor variant) | Lethal congenital contracture syndrome 8 | |
| | | Single nucleotide variant (missense variant) | Lethal congenital contracture syndrome 8 | |
| | | Single nucleotide variant (missense variant) | Lethal congenital contracture syndrome 8 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Lethal congenital contracture syndrome 8 | |
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