Links from MedGen
Items: 7
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | LOC130066420, SOX18 (R56C) | Single nucleotide variant (missense variant) | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome +2 more | |
| | | Single nucleotide variant (nonsense) | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
Click to view in NCBI Gene