| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | HSPG2, LOC126805655 (Q2183P +1 more) | Single nucleotide variant (missense variant) | Schwartz-Jampel syndrome +1 more | |
| | HSPG2, LOC126805655 (V2174M +1 more) | Single nucleotide variant (missense variant) | Schwartz-Jampel syndrome | |
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