2 Matching Annotations
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  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma
    2
    1. ClingenBaseline 21 Oct 2026

      GroupID: V43

      DiseaseAssertion: VHL

      GroupSize: 4

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: French

      GroupAgeRange: N/A

      GroupInfo: Patients are grouped by family.

      FamilyInfo: 4/7 members of this family that underwent genetic testing had the same mutation.

      GroupPresentingHPOs: N/A

      GroupHPOFreeText: Diagnosed with VHL Type 1.

      GroupNotHPOs: HP:0002666 (Pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: Likely 15300849

      SupplementalData: N/A

      Variant: p.L158dup (c.473_474insTTT)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA2573320246, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573320246

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_insertion

      CivicName: L158dup (c.473_474insTTT)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:French DiseaseEntity:VHL Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:473 ProteinPosition:158 AminoAcidChange:N/A ClinVarID:N/A CAID:CA2573320246 MutationType:inframe_insertion CivicName:L158dup(c.473_474insTTT) Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026

      GroupID: V43

      DiseaseAssertion: VHL

      GroupSize: 4

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: French

      GroupAgeRange: N/A

      GroupInfo: Patients are grouped by family.

      FamilyInfo: 4/7 members of this family that underwent genetic testing had the same mutation.

      GroupPresentingHPOs: N/A

      GroupHPOFreeText: Diagnosed with VHL Type 1.

      GroupNotHPOs: HP:0002666 (Pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: Likely 15300849

      SupplementalData: N/A

      Variant: p.L158dup (c.473_474insTTT)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA2573320246, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573320246

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_insertion

      CivicName: L158dup (c.473_474insTTT)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:French DiseaseEntity:VHL Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:473 ProteinPosition:158 AminoAcidChange:N/A ClinVarID:N/A CAID:CA2573320246 MutationType:inframe_insertion CivicName:L158dup(c.473_474insTTT) Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/9829912/