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  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 14 Nov 2026
      nt 437 Ins. A 76 FS 437insA Frameshift 2

      GroupID: 5

      DiseaseAssertion: hemangioblastoma

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: 2 out of the 81 patients listed in this hemangioblastoma cohort were found with this c.224insA mutation. Any relation is unknown.

      GroupPresentingHPOs: HP:0010797 (hemangioblastoma)

      GroupHPOFreeText: both patients had hemangioblastoma of the CNS; other phenotypes are unknown.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.F76Lfs*56 (c.224_225insA)

      LegacyVariant: c.437insA

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA432536432 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.224_225insA

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_1_frameshift_variant

      CivicName: F76fs (c.224_225insA)

      MultipleGeneVariants: N/A

      CAID:CA432536432 ClinVarID:N/A DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:AF010238.1 NoFamilyInfo MutationType:plus_1_frameshift_variant ProteinPosition:76 cDNAposition:224 AminoAcidChange:PHEtoLEU CivicName:F76fs(c.224_225insA) 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