2 Matching Annotations
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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A retrospective case study of sunitinib treatment in three patients with Von Hippel-Lindau disease
    2
    1. ClingenBaseline 21 Oct 2026
      In 2012, A blood DNA sequencing analysis revealed a pathogenic VHL mutation c. 232A>T; p. Asn78Tyr in this patient. The same point mutation of VHL was identified in three family members including one sister, one brother and one nephew.

      PatientID: N/A (proband's nephew)

      KindredID: 2

      Case: M, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: The same point mutation of VHL (c. 232A>T; p.Asn78Tyr) was identified in three family members: 2 female and 1 male (one of which is his parent). His grandmother died of stroke at early of 50 years.

      CasePresentingHPOs: unknown

      CaseHPOFreeText: refused for further examinations for VHL-related lesions.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.N78Y (c.232A>T)

      LegacyVariant: N/A

      ClinVar: 223167 https://www.ncbi.nlm.nih.gov/clinvar/variation/223167/

      CAID: CA357056 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.232A%3ET

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: N78Y (c.232A>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline CivicName:N78Y(c.232A>T) cDNAposition:232 ProteinPosition:78 AminoAcidChange:ASNtoTYR MutationType:missense_variant;transversion ClinVarID:223167 ClinVarID:Yes Familial AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      In 2012, A blood DNA sequencing analysis revealed a pathogenic VHL mutation c. 232A>T; p. Asn78Tyr in this patient. The same point mutation of VHL was identified in three family members including one sister, one brother and one nephew.

      PatientID: N/A (proband's nephew)

      KindredID: 2

      Case: M, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: The same point mutation of VHL (c. 232A>T; p.Asn78Tyr) was identified in three family members: 2 female and 1 male (one of which is his parent). His grandmother died of stroke at early of 50 years.

      CasePresentingHPOs: unknown

      CaseHPOFreeText: refused for further examinations for VHL-related lesions.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.N78Y (c.232A>T)

      LegacyVariant: N/A

      ClinVar: 223167 https://www.ncbi.nlm.nih.gov/clinvar/variation/223167/

      CAID: CA357056 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.232A%3ET

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: N78Y (c.232A>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline CivicName:N78Y(c.232A>T) cDNAposition:232 ProteinPosition:78 AminoAcidChange:ASNtoTYR MutationType:missense_variant;transversion ClinVarID:223167 ClinVarID:Yes Familial AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6154838/