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    Germline mutations in the new E1' cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma
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    1. ClingenBaseline 30 Oct 2026
      #2Carotid body PGL (34)1c.340+578C>Trs1396223560.05NANANANANAVUS

      PatientID: 2

      KindredID: 2

      Case: Sex Unknown, 35Y0M, Ethnicity Unknown

      DiseaseAssertion: paraganglioma

      FamilyInfo: N/A - not stated

      CasePresentingHPOs: HP:0100635 (Carotid Paraganglioma)

      CaseHPOFreeText: A carotid body PGL diagnosed first at 34Y was found, with follow up of a 1 year duration.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Yes

      Variant: c.340+578C>T

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 849869 https://www.ncbi.nlm.nih.gov/clinvar/variation/849869/

      CAID: N/A

      gnomAD: 0.0005097 https://gnomad.broadinstitute.org/variant/3-10184449-C-T

      VariantEvidence: N/A

      MutationType: splice_site_variant; intron_variant

      CivicName: Splice Site (c.340+578C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline DiseaseEntity:carotidparaganglioma AgeOfPresentation:carotidparaganglioma:34 AssumedRefSeq:NM_000551.3 ClinVarID:849869 ClinVarID:Yes CivicName:SpliceSite(c.340+578C>T) MutationType:splice_site_variant AminoAcidChange:N/A cDNAposition:N/A ProteinPosition:N/A NonFamilial SupplementalData MutationType:intron_variant inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC7387210/