Links from MedGen
Items: 13
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Lymphatic malformation 3 | |
| | | Single nucleotide variant (missense variant) | Lymphatic malformation 3 | |
| | | Single nucleotide variant (missense variant) | Lymphatic malformation 3 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Duplication (frameshift variant) | Lymphatic malformation 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Lymphatic malformation 3 | |
| | | Deletion (inframe_deletion) | Spastic paraplegia | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Hypomyelinating leukodystrophy 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Spastic paraplegia +7 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +6 more | |
| | | Single nucleotide variant (missense variant) | Lymphatic malformation 3 | |
| | | Single nucleotide variant (missense variant) | Lymphatic malformation 3 | |
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