3 Matching Annotations
  1. Last 7 days
  2. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genotype–phenotype correlations in von Hippel-Lindau disease
    1
    1. ClingenBaseline 12 Nov 2026

      GroupID: 44

      Case: Age unknown, Sex Unknown, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: 1 of the 573 patients discussed in this paper were found to have this variant. This mutation was found in 1 VHL family with a single patient.

      CasePresentingHPOs: HP:0006880; HP:0002666; HP:0009711; HP:0005584 (cerebellar hemangioblastoma; pheochromocytoma; retinal capillary hemangioma; renal cell carcinoma)

      CaseHPOFreeText: patient had all four of cerebellar hemangioblastoma; pheochromocytoma; retinal capillary hemangioma; renal cell carcinoma, with unknown ages

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table S1.

      Variant: c.341-2A>C

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351753579 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.341-2A%3EC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: Splice Site (c.341-2A>C) 

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:pheochromocytoma DiseaseEntity:retinalcapillaryhemangioma cDNAposition:341 CivicName:SpliceSite(c.341-2A>C) MutationType:splice_site_variant CAID:CA351753579 ClinVarID:N/A Mutation:Germline ExperimentalAssay SupplementalData InheritancePattern:AutosomalDominant NoFamilyInfo RefSeq:NM_000551.2 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/abs/10.1002/humu.20385
  3. eje.bioscientifica.com eje.bioscientifica.com
    Germline mutations and genotype–phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma
    1
    1. ClingenBaseline 09 Nov 2026
      28F/32ASUnilateral PCCVHLIVS 2c.341-2 A>GSplice Site ChangeSplice site changeDisease causingNANANRNR

      PatientID: 28

      KindredID: 28

      Case: F, 32Y0M, Asian Indian

      DiseaseAssertion: pheochromocytoma

      FamilyInfo: None - Apparently sporadic

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: Unilateral pheochromocytoma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/ SDHB/ SDHD/ NF1

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: c.341-2A>G

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 223194 https://www.ncbi.nlm.nih.gov/clinvar/variation/223194/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: Splice Site (c.341-2A>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:pheochromocytoma AssumedRefSeq:NM_000551.3 cDNAposition:341 ClinVarID:223194 MutationType:splice_site_variant PreviousTesting:RET PreviousTesting:SDHB PreviousTesting:SDHD CivicName:SpliceSite(c.341-2A>G) Mutation:Germline ClinVarID:Yes Ethnicity:SouthAsian NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    eje.bioscientifica.com/view/journals/eje/175/4/311.xml
  4. Oct 2026
  5. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Comprehensive characterization of a Canadian cohort of von Hippel-Lindau disease patients
    1
    1. ClingenBaseline 31 Oct 2026
      3 (4%) had splice site variants

      PatientID: 23

      KindredID: 23

      Case: Age, Sex, Ethnicity unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797; HP:0009711 (hemangioblastoma, retinal capillary hemangioma)

      CaseHPOFreeText: patient was recorded with a CNS hemangioblastoma, and a retinal hemangioblastoma

      CaseNotHPOs: HP:0030421; HP:0030405; HP:0006770; HP:0100634 (epididymal tumour, pancreatic endocrine tumour, clear cell renal cell carcinoma, neuroendocrine neoplasm)

      CaseNotHPOFreeText: patient was not recorded to have an epididymal tumor, a pancreatic endocrine tumour (pancreatic neuroendocrine neoplasm), CCRCC, nor a neuroendocrine neoplasm (pheochromocytoma/paraganglioma)

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Yes; see table S1 for VHL subject genetic and manifestation information.

      Variant: c.341-2A>G

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 223194 https://www.ncbi.nlm.nih.gov/clinvar/variation/223194/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Recorded in paper as: IVS1-2A>G; contacted author for confirmation.

      MutationType: splice_site_variant

      CivicName: Splice Site (c.341-2A>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma RefSeq:NM_000551.3 CivicName:SpliceSite(c.341-2A>G) cDNAposition:341 MutationType:splice_site_variant ClinVarID:223194 SupplementalData Mutation:Germline NoFamilyInfo ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/full/10.1111/cge.13613