3 Matching Annotations
  1. Last 7 days
  2. jnnp.bmj.com jnnp.bmj.com
    The impact of molecular genetic analysis of theVHL gene in patients with haemangioblastomas of the central nervous system
    1
    1. ClingenBaseline 03 Nov 2026
      nt 695 G/C 161 Arg→Pro R161P Missense 1

      PatientID: 33

      GroupID/ KindredID: 33

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: hemangioblastoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: other phenotypes unknown.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161P (c.482G>C)

      LegacyVariant: p.R161P (c.695G>C)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351756111 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.482G%3EC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: R161P (c.482G>C)

      MultipleGeneVariants: N/A

      DiseaseEntity:hemangioblastoma Mutation:Germline NoFamilyInfo AssumedRefSeq:AF010238.1 ClinVarID:N/A CAID:CA351756111 AminoAcidChange:ARGtoPRO MutationType:missense_variant;transversion ProteinPosition:161 cDNAposition:482 CivicName:R161P(c.482G>C) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    jnnp.bmj.com/content/jnnp/67/6/758.full.pdf
  3. www.nejm.org www.nejm.org
    Germ-Line Mutations in Nonsyndromic Pheochromocytoma | NEJM
    1
    1. ClingenBaseline 02 Nov 2026

      PatientID: N/A

      KindredID: 16

      Case: Sex, Age, Ethnicity Unknown

      DiseaseAssertion: pheochromocytoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: Nonsyndromic pheochromocytoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, SDHB, SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161P (c.482G>C)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.R161P (c.695G>C)

      ClinVarID: N/A

      CAID: CA351756111 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.482G%3EC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: R161P (c.482G>C)

      MultipleGeneVariants: N/A

      DiseaseEntity:pheochromocytoma InheritancePattern:AutosomalDominant NoFamilyInfo Mutation:Germline AssumedRefSeq:AF010238.1 ProteinPosition:161 CivicName:R161P(c.482G>C) cDNAposition:482 AminoAcidChange:ARGtoPRO MutationType:missense_variant;transversion CAID:CA351756111 ClinVarID:N/A PreviousTesting:RET/SDHB/SDHD inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    nejm.org/doi/10.1056/NEJMoa020152
  4. Oct 2026
  5. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Sinonasal renal cell-like adenocarcinoma arising in von Hippel Lindau (VHL) syndrome
    1
    1. ClingenBaseline 23 Oct 2026
      Clinical caseA 35-year-old African-American male with VHL syndrome presented with increasing nasal congestion and epistaxis. He had a past history of multiple benign CNS and visceral tumors from VHL syndrome and was known to harbor a pathogenic germline mutation in exon 3 of VHL, R161P (c.482G > C). Computed tomography (CT) imaging showed a right-sided nasal mass.Magnetic resonance imaging (MRI) further characterized a large enhancing mass extending through the right medial orbital wall with extraconal

      PatientID: N/A

      KindredID: 1

      Case: M, 35Y0M, African American

      DiseaseAssertion: VHL

      FamilyInfo: No family information provided. Patient’s had previous genetic testing that confirmed his genetic variant.

      CasePresentingHPOs: HP:0030072; HP:0010797 (Paranasal sinus neoplasm, hemangioblastoma)

      CaseHPOFreeText: Patient with known VHL disease presented with Sinonasal renal cell-like adenocarcinoma (SNRCLA). He also had a history of multiple CNS and visceral tumors consistent with VHL disease.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161P (c.482G>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351756111, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.482G%3EC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: R161P (c.482G>C)

      MultipleGeneVariants: Somatic, MSH6, c.1867C>G (p.Pro623Ala); Somatic, MST1R, (p.Val772Met); Somatic, PIK3C2B, (p.His660Arg)

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transversion ClinVarID:N/A Ethnicity:AfricanAmerican DiseaseEntity:paranasalsinusneoplasm AgeOfPresentation:paranasalsinusneoplasm:35 CAID:CA351756111 NoFamilyInfo DiseaseEntity:VHL AssumedRefSeq:NM_000551.3 CivicName:R161P(c.482G>C) cDNAPosition:482 ProteinPosition:161 AminoAcidChange:ARGtoPRO DiseaseEntity:hemangioblastoma inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/34998175/