4 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Identification of intragenic mutations in the Von Hippel — Lindau disease tumour suppressor gene andcorrelation with disease phenotype
    2
    1. ClingenBaseline 05 Nov 2026

      KindredID: 133

      GroupID: 23

      GroupSize: Unknown

      GroupNumberMales: Unknown

      GroupNumberFemales: Unknown

      GroupEthnicity: Unknown

      GroupAgeRange: Unknown

      DiseaseAssertion: VHL

      GroupInfo: Kindred no. 133 describes a family where at least one member (unspecified how many) had this mutation in the VHL gene. No phenotypic information was available for this family.

      GroupPresentingHPOs: N/A

      GroupHPOFreeText: N/A

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G114C (c.340G>T)

      LegacyVariant: p.G185C (c.553G>T)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351751376; https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.340G%3ET

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: G114C (c.340G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline RefSeq:AF010238.1 cDNAposition:340 ProteinPosition:114 AminoAcidChange:GLYtoCYS ClinVarID:N/A CAID:CA351751376 MutationType:missense_variant;transversion FamilyCohort CivicName:G114C(c.340G>T) inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 02 Nov 2026

      KindredID: 40

      GroupID: 22

      GroupSize: Unknown

      GroupNumberMales: Unknown

      GroupNumberFemales: Unknown

      GroupEthnicity: Unknown

      GroupAgeRange: Unknown

      DiseaseAssertion: VHL

      GroupInfo: Kindred no. 40 describes a family where at least one member (unspecified how many) had this mutation in the VHL gene. Pheochromocytoma was observed in this kindred.

      GroupPresentingHPOs: HP:0002666 (Pheochromocytoma)

      GroupHPOFreeText: Pheochromocytoma was observed in this kindred indicating VHL disease type 2.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G114C (c.340G>T)

      LegacyVariant: p.G185C (c.553G>T)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351751376; https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.340G%3ET

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: G114C (c.340G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline RefSeq:AF010238.1 cDNAposition:340 ProteinPosition:114 AminoAcidChange:GLYtoCYS ClinVarID:N/A CAID:CA351751376 MutationType:missense_variant;transversion FamilyCohort CivicName:G114C(c.340G>T) DiseaseEntity:pheochromocytoma inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/7987306/
  3. Oct 2026
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline VHL gene mutations in three Serbian families with von Hippel-Lindau disease
    1
    1. ClingenBaseline 29 Oct 2026
      family A, a c.490G>T/ p.Gly93Cys

      PatientID: AII2

      KindredID: A

      Case: F, 33Y0M, Serbian

      DiseaseAssertion: VHL

      FamilyInfo: Families were selected based on their clinical data and family history. Patient’s mother (AI1) had CNS hemangioblastoma. The patient’s son (AIII3) had severe arterial hypertension since 12Y0M and left pheochromocytoma was found and removed at 24Y0M. The patient’s sister (AII2) has pheochromocytoma and CNS hemangioblastoma. Genetic testing was performed on nine family members and two carried the heterozygous missense variant - current patient and her son. The patient’s mother and sister with VHL were not genetically tested. See pedigree in figure 1.

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: Patient was diagnosed with pheochromocytoma at 33Y0M.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G93C (c.277G>T)

      LegacyVariant: p.G93C (c.490G>T)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223175, https://www.ncbi.nlm.nih.gov/clinvar/variation/223175/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense variant; transversion

      CivicName: G93C (c.277G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transversion DiseaseEntity:VHL DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:33 CivicName:G93C(c.277G>T) cDNAPosition:277 ProteinPosition:93 AminoAcidChange:GLYtoCYS ClinVarID:Yes ClinVarID:223175 FamilyPedigree Familial AssumedRefSeq:AF010238.1 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/17688370/
  5. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan
    1
    1. ClingenBaseline 24 Oct 2026
      Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected.

      GroupID/ KindredID: 40CA

      DiseaseAssertion: VHL

      GroupSize: N/A

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: This germline familial VHL mutation was taken from the Cambridge, Department of Pathology database, with an unknown number of members belonging to Family ID 40CA. Table 4 lists all ID and mutations associated with individuals with pheochromocytoma.

      GroupPresentingHPOs: HP:0002666 (pheochromocytoma)

      GroupHPOFreeText: Described as a VHL family with pheochromocytoma. Other phenotypes are likely, including renal cell carcinoma, however not detailed here.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G114C (c.340G>T)

      LegacyVariant: p.G114C (c.553G>T)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351751376 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.340G>T

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: G114C (c.340G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:pheochromocytoma ProteinPosition:114 cDNAposition:340 CivicName:G114C(c.340G>T) AminoAcidChange:GLYtoCYS MutationType:missense_variant;transversion CAID:CA351751376 ClinVarID:N/A Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/8956040/