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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Clinical and molecular characteristics of East Asian patients with von Hippel–Lindau syndrome
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    1. ClingenBaseline 25 Oct 2026
      missense

      Through blood sample testing, ten affected individuals from 7 families in Singapore were identified with VHL disease. One patient of Chinese ethnicity was found with the c.393C>G (p.Asn131Lys) mutation in the VHL gene and presented with CNS hemangioblastoma, retinal angioma, renal cell carcinoma, renal cysts, and pancreatic cysts. ACMG: PP2, PP4

      ClinVarID:N/A EvidenceStatement CAID:CA351753948 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC4986176/