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  2. academic.oup.com academic.oup.com
    VHL mutation analysis in patients with isolated central nervous system haemangioblastoma
    2
    1. ClingenBaseline 21 Oct 2026
      B1 Spinal 28 c.582_589delGACACAC N/A 5 y 10 m 

      PatientID: B1

      KindredID: 1

      Case: Sex Unknown, 28Y0M, Ethnicity Unknown

      DiseaseAssertion: Assumed VHL

      FamilyInfo: No testing

      CasePresentingHPOs: HP:0009713, HP:0000107, HP:0001737 (spinal hemangioblastoma, renal cyst, pancreatic cyst)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: no other clinical features were found after the cerebellar hemangioblastoma during 5 years 10 months of follow-up

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.T124Mfs*33 (c.369_375del)

      LegacyVariant: c.582_589delGACACAC

      ClinVarID: N/A

      CAID: CA913189240 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.369_375del

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: T124Mfs*33(c.369_375del)

      MultipleGeneVariants: N/A

      MutationType:minus_1_frameshift_variant InheritancePattern:AutosomalDominant DiseaseEntity:spinalhemangioblastoma DiseaseEntity:VHL DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts AgeOfPresentation:spinalhemangioblastoma:28 AgeOfPresentation:renalcyst:32 AgeOfPresentation:pancreaticcyst:32 Mutation:Germline RefSeq:AF010238.1 cDNAposition:369 ProteinPosition:124 AminoAcidChange:THRtoMET ClinVarID:N/A CAID:CA913189240 CivicName:T124Mfs*33(c.369_375del) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      B1 Spinal 28 c.582_589delGACACAC N/A 5 y 10 m 

      PatientID: B1

      KindredID: 1

      Case: Sex Unknown, 28Y0M, Ethnicity Unknown

      DiseaseAssertion: Assumed VHL

      FamilyInfo: No testing

      CasePresentingHPOs: HP:0009713, HP:0000107, HP:0001737 (spinal hemangioblastoma, renal cyst, pancreatic cyst)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: no other clinical features were found after the cerebellar hemangioblastoma during 5 years 10 months of follow-up

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.T124Mfs*33 (c.369_375del)

      LegacyVariant: c.582_589delGACACAC

      ClinVarID: N/A

      CAID: CA913189240 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.369_375del

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: T124Mfs*33(c.369_375del)

      MultipleGeneVariants: N/A

      MutationType:minus_1_frameshift_variant InheritancePattern:AutosomalDominant DiseaseEntity:spinalhemangioblastoma DiseaseEntity:VHL DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts AgeOfPresentation:spinalhemangioblastoma:28 AgeOfPresentation:renalcyst:32 AgeOfPresentation:pancreaticcyst:32 Mutation:Germline RefSeq:AF010238.1 cDNAposition:369 ProteinPosition:124 AminoAcidChange:THRtoMET ClinVarID:N/A CAID:CA913189240 CivicName:T124Mfs*33(c.369_375del) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    academic.oup.com/brain/article/130/3/836/278946