Schwartz-Jampel syndrome: genes and variants
Schwartz-Jampel syndrome is linked to 1 analyzed protein (HSPG2). 6 DNA variants are known to cause it; 205 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: Schwartz-Jampel syndrome type 1
Genes linked to Schwartz-Jampel syndrome
HSPG2: Basement membrane-specific heparan sulfate proteoglycan core protein
6 disease-causing and 204 uncertain variants in HSPG2 are linked to Schwartz-Jampel syndrome.
Weakly linked (only a few uncertain records): GNA11.
Known disease-causing variants in Schwartz-Jampel syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| HSPG2 G3324R | 3324 | Ig-like C2-type 19 | Disease-causing (★★) |
| HSPG2 C3320R | 3320 | Ig-like C2-type 19 | Disease-causing (★★) |
| HSPG2 C375W | 375 | LDL-receptor class A 4 | Disease-causing (★) |
| HSPG2 C344R | 344 | LDL-receptor class A 3 | Disease-causing (★) |
| HSPG2 C1532Y | 1532 | Laminin EGF-like 9 | Disease-causing |
| HSPG2 A2822T | 2822 | Ig-like C2-type 13 | Disease-causing |
Diseases related to Schwartz-Jampel syndrome
- Connective tissue disorder, also linked to HSPG2
Frequently asked questions
Which genes are linked to Schwartz-Jampel syndrome?
In CATVariant, Schwartz-Jampel syndrome is linked to 1 analyzed protein: HSPG2 (Basement membrane-specific heparan sulfate proteoglycan core protein).
How many genetic variants are linked to Schwartz-Jampel syndrome?
256 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 205 are of uncertain significance or have conflicting reports.
Which uncertain variants in Schwartz-Jampel syndrome look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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