Links from MedGen
Items: 9
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Familial expansile osteolysis +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial expansile osteolysis | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | TNFRSF11A-related disorder +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Bone Paget disease +5 more | |
| | | Duplication (inframe_insertion) | not provided +2 more | |
| | | Duplication (inframe_insertion) | Familial expansile osteolysis | |
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