6 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: Analysis of Five Japanese Families
    2
    1. ClingenBaseline 21 Oct 2026
      three familial cases

      PatientID: 5

      KindredID: C

      Case: M, Age Unknown, Japanese

      DiseaseAssertion: Asymptomatic

      FamilyInfo: This mutation was found in a family of 10 individuals; six were found to carry the mutation NM_000551.3:c.464-1G>T the patient carried, and three presented with symptoms. They were identified with hemangioblastomas of the central nervous system and retinal angiomas. The eldest patient also had renal cell carcinoma (patient C-1).

      CasePresentingHPOs: N/A

      CaseHPOFreeText: The paper states that this patient was not yet symptomatic, suggesting they may be too young to show symptoms yet.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: (c.464-1G>T)

      LegacyVariant: (c.677-1G>T)

      ClinVarID: 223221, http://www.ncbi.nlm.nih.gov/clinvar/variation/223221

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: SpliceSite(c.464-1G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Japanese DiseaseEntity:asymptomatic Mutation:Germline RefSeq:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:Yes ClinVarID:223221 MutationType:splice_site_variant CivicName:SpliceSite(c.464-1G>T) FamilyPedigree Familial AssumedRefSeq:AF010238.1 cDNAposition:464 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      three familial cases

      PatientID: 5

      KindredID: C

      Case: M, Age Unknown, Japanese

      DiseaseAssertion: Asymptomatic

      FamilyInfo: This mutation was found in a family of 10 individuals; six were found to carry the mutation NM_000551.3:c.464-1G>T the patient carried, and three presented with symptoms. They were identified with hemangioblastomas of the central nervous system and retinal angiomas. The eldest patient also had renal cell carcinoma (patient C-1).

      CasePresentingHPOs: N/A

      CaseHPOFreeText: The paper states that this patient was not yet symptomatic, suggesting they may be too young to show symptoms yet.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: (c.464-1G>T)

      LegacyVariant: (c.677-1G>T)

      ClinVarID: 223221, http://www.ncbi.nlm.nih.gov/clinvar/variation/223221

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: SpliceSite(c.464-1G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Japanese DiseaseEntity:asymptomatic Mutation:Germline RefSeq:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:Yes ClinVarID:223221 MutationType:splice_site_variant CivicName:SpliceSite(c.464-1G>T) FamilyPedigree Familial AssumedRefSeq:AF010238.1 cDNAposition:464 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5921130/
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germ‐line Mutation Analysis in Patients with von Hippel‐Lindau Disease in Japan: An Extended Study of 77 Families
    2
    1. ClingenBaseline 21 Oct 2026

      PatientID: None

      KindredID: 39

      Case: Sex Unknown, Age Unknown, Japanese

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0009711 (Retinal capillary hemangioma)

      CaseHPOFreeText: Retinal angioma.

      CaseNotHPOs: HP:0005584; HP:0001732; HP:0010797 (Renal cell carcinoma, Abnormality of the pancreas, Hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 8634692

      SupplementalData: N/A

      Variant: p.P86L (c.257C>T)

      LegacyVariant: c.470C>T

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182977, https://www.ncbi.nlm.nih.gov/clinvar/variation/182977/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P86L (c.257C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Japanese DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline RefSeq:AF010238.1 cDNAposition:257 ProteinPosition:86 AminoAcidChange:PROtoLEU ClinVarID:182977 ClinVarID:Yes MutationType:missense_variant;transition CivicName:P86L(c.257C>T) NoFamilyInfo inferred_gene_hgnc:1076 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026

      PatientID: None

      KindredID: 39

      Case: Sex Unknown, Age Unknown, Japanese

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0009711 (Retinal capillary hemangioma)

      CaseHPOFreeText: Retinal angioma.

      CaseNotHPOs: HP:0005584; HP:0001732; HP:0010797 (Renal cell carcinoma, Abnormality of the pancreas, Hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 8634692

      SupplementalData: N/A

      Variant: p.P86L (c.257C>T)

      LegacyVariant: c.470C>T

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182977, https://www.ncbi.nlm.nih.gov/clinvar/variation/182977/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P86L (c.257C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Japanese DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline RefSeq:AF010238.1 cDNAposition:257 ProteinPosition:86 AminoAcidChange:PROtoLEU ClinVarID:182977 ClinVarID:Yes MutationType:missense_variant;transition CivicName:P86L(c.257C>T) NoFamilyInfo inferred_gene_hgnc:1076 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/10761708/
  4. pubmed-ncbi-nlm-nih-gov.proxy1.lib.uwo.ca pubmed-ncbi-nlm-nih-gov.proxy1.lib.uwo.ca
    Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL. Clinical Research Group for VHL in Japan
    2
    1. ClingenBaseline 21 Oct 2026

      GroupID: 39

      Case: Sex Unknown, Age Unknown, Japanese

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0009711(retinal capillary hemangioma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0010797, HP:0002666, HP:0005584 (hemangioblastoma, pheochromocytoma, renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P86L(c.257C>T)

      LegacyVariant: p.P157L (c.470C>T)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182977 https://www.ncbi.nlm.nih.gov/clinvar/variation/182977/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P86L(c.257C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Ethnicity:Japanese DiseaseEntity:retinalcapillaryhemangioma ProteinPosition:86 AminoAcidChange:PROtoLEU Mutation:Germline CivicName:P86L(c.257C>T) cDNAposition:257 MutationType:missense_variant;transition ClinVarID:182977 ClinVarID:Yes NoFamilyInfo AssumedRefSeq:AF010238.1 inferred_gene_hgnc:1076 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026

      GroupID: 39

      Case: Sex Unknown, Age Unknown, Japanese

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0009711(retinal capillary hemangioma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0010797, HP:0002666, HP:0005584 (hemangioblastoma, pheochromocytoma, renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P86L(c.257C>T)

      LegacyVariant: p.P157L (c.470C>T)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182977 https://www.ncbi.nlm.nih.gov/clinvar/variation/182977/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P86L(c.257C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Ethnicity:Japanese DiseaseEntity:retinalcapillaryhemangioma ProteinPosition:86 AminoAcidChange:PROtoLEU Mutation:Germline CivicName:P86L(c.257C>T) cDNAposition:257 MutationType:missense_variant;transition ClinVarID:182977 ClinVarID:Yes NoFamilyInfo AssumedRefSeq:AF010238.1 inferred_gene_hgnc:1076 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    URL

    pubmed-ncbi-nlm-nih-gov.proxy1.lib.uwo.ca/8634692/