3 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma.
    2
    1. ClingenBaseline 31 Oct 2026
      V155L

      PatientID: None

      KindredID: A

      Case: Gender Unknown, Age Unknown, Welsh

      DiseaseAssertion: Asymptomatic

      FamilyInfo: The patient had two sons and a daughter; of these three children, one son carried the mutation and presented with bilateral pheochromocytoma at 11Y, and one daughter carried the mutation and presented with bilateral pheochromocytoma at 17Y.

      CasePresentingHPOs: Asymptomatic

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V84L(c.250G>T)

      LegacyVariant: p.V155L(c.463G>T)

      CaseProblemVariantFreeText: bandshift in exon 1 and genomic sequencing indicated a G>T transversion at nucleotide 463, substituting a valine for leucine at codon 155 (V155L). Leading to NM_000551.3:p.V84L(c.250G>T)

      ClinVarID: 2236, http://www.ncbi.nlm.nih.gov/clinvar/variation/2236

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: V84L(c.250G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Welsh DiseaseEntity:asymptomatic Mutation:Germline RefSeq:N/A AssumedRefSeq:AF010238.1 cDNAposition:250 ProteinPosition:84 AminoAcidChange:VALtoLEU ClinVarID:Yes ClinVarID:2236 MutationType:missense_variant;transversion CivicName:V84L(c.250G>T) PreviousTesting:RET FamilyPedigree Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 30 Oct 2026
      V155L

      PatientID: None

      KindredID: A

      Case: F, 17Y0M, Welsh

      DiseaseAssertion: Pheochromocytoma

      FamilyInfo: The patient had a brother that presented with bilateral pheochromocytoma at 11Y. The patient also had an asymptomatic parent.

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: The patient presented with bilateral pheochromocytoma at 17Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V84L(c.250G>T)

      LegacyVariant: p.V155L(c.463G>T)

      CaseProblemVariantFreeText: bandshift in exon 1 and genomic sequencing indicated a G>T transversion at nucleotide 463, substituting a valine for leucine at codon 155 (V155L). Leading to NM_000551.3:p.V84L(c.250G>T)

      ClinVarID: 2236, http://www.ncbi.nlm.nih.gov/clinvar/variation/2236

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: V84L(c.250G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Welsh DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:17 Mutation:Germline RefSeq:N/A AssumedRefSeq:AF010238.1 cDNAposition:250 ProteinPosition:84 AminoAcidChange:VALtoLEU ClinVarID:Yes ClinVarID:2236 MutationType:missense_variant;transversion CivicName:V84L(c.250G>T) PreviousTesting:RET FamilyPedigree Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC1051741/
  3. Oct 2026
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma.
    1
    1. ClingenBaseline 29 Oct 2026
      V155L

      PatientID: None

      KindredID: A

      Case: M, 11Y0M, Welsh

      DiseaseAssertion: Pheochromocytoma

      FamilyInfo: The patient had a sister that presented with bilateral pheochromocytoma at 17Y. The patient also had an asymptomatic parent.

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: The patient presented with bilateral pheochromocytoma at 11Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V84L(c.250G>T)

      LegacyVariant: p.V155L(c.463G>T)

      CaseProblemVariantFreeText: bandshift in exon 1 and genomic sequencing indicated a G>T transversion at nucleotide 463, substituting a valine for leucine at codon 155 (V155L). Leading to NM_000551.3:p.V84L(c.250G>T)

      ClinVarID: 2236, http://www.ncbi.nlm.nih.gov/clinvar/variation/2236

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: V84L(c.250G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Welsh DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:11 Mutation:Germline RefSeq:N/A AssumedRefSeq:AF010238.1 cDNAposition:250 ProteinPosition:84 AminoAcidChange:VALtoLEU ClinVarID:Yes ClinVarID:2236 MutationType:missense_variant;transversion CivicName:V84L(c.250G>T) PreviousTesting:RET FamilyPedigree Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC1051741/