8 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Familial and genetic researches on three Chinese families with von Hippel-Lindau disease
    3
    1. ClingenBaseline 02 Nov 2026
      Meanwhile, it was also found that the guanine replaced the 559th cytosine on one patient and two carriers from the third family, which made the 116th leucine replaced by valine.

      PatientID: II-4

      KindredID: 3

      Case: M, Age Unknown (deceased), Chinese

      DiseaseAssertion: CNS Hemangioblastoma

      FamilyInfo: The transition mutation was found and confirmed in 1 patient (II-3) and 2 carriers (III-7, IV-2). 5 members, including II-4, had hemangioblastomas of the CNS, but had all passed away before genetic testing. Could be assumed and deduced the genetics due to pedigree showing future linear relations of this mutation.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L116V (c.346C>G) [assumed]

      LegacyVariant: p.L116V (c.559C>G) [assumed]

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351753642 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.346C%3EG

      gnomAD: N/A

      VariantEvidence: No genetic testing was done prior to death, however family history and presentation leads to this assumption

      MutationType: missense_variant;transversion

      CivicName: L116V (c.346C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:hemangioblastoma Mutation:Germline RefSeq:AF010238.1 CivicName:L116V(c.346C>G) cDNAposition:346 ProteinPosition:116 AminoAcidChange:LEUtoVAL MutationType:missense_variant;transversion CAID:CA351753642 ClinVarID:N/A Familial FamilyPedigree inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 01 Nov 2026
      Meanwhile, it was also found that the guanine replaced the 559th cytosine on one patient and two carriers from the third family, which made the 116th leucine replaced by valine.

      PatientID: IV-2

      KindredID: 3

      Case: M, Age Unknown, Chinese

      DiseaseAssertion: asymptomatic

      FamilyInfo: The transition mutation was found and confirmed in this patient, his great-aunt, and his first-cousin once removed. 5 additional members had hemangioblastomas of the CNS, but had all passed away before genetic testing. Could be assumed and deduced the genetics due to pedigree showing future linear relations of this mutation. His mother, two uncles, and grandfather are all individuals with hemangioblastomas who have passed away.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Stated as carrier, however he is young (likely before the age of onset)

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L116V (c.346C>G)

      LegacyVariant: p.L116V (c.559C>G)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351753642 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.346C%3EG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: L116V (c.346C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:asymptomatic Mutation:Germline RefSeq:AF010238.1 CivicName:L116V(c.346C>G) cDNAposition:346 ProteinPosition:116 AminoAcidChange:LEUtoVAL MutationType:missense_variant;transversion CAID:CA351753642 ClinVarID:N/A Familial FamilyPedigree inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    3. ClingenBaseline 30 Oct 2026
      Meanwhile, it was also found that the guanine replaced the 559th cytosine on one patient and two carriers from the third family, which made the 116th leucine replaced by valine.

      PatientID: II-1

      KindredID: 3

      Case: M, Age Unknown (deceased), Chinese

      DiseaseAssertion: CNS Hemangioblastoma

      FamilyInfo: The transition mutation was found and confirmed in 1 patient (II-3) and 2 carriers (III-7, IV-2). 5 members, including II-1, had hemangioblastomas of the CNS, but had all passed away before genetic testing. Could be assumed and deduced the genetics due to pedigree showing future linear relations of this mutation.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L116V (c.346C>G) [assumed]

      LegacyVariant: p.L116V (c.559C>G) [assumed]

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351753642 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.346C%3EG

      gnomAD: N/A

      VariantEvidence: No genetic testing was done prior to death, however family history and presentation leads to this deduction

      MutationType: missense_variant;transversion

      CivicName: L116V (c.346C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:hemangioblastoma Mutation:Germline RefSeq:AF010238.1 ProteinPosition:116 CivicName:L116V(c.346C>G) cDNAposition:346 AminoAcidChange:LEUtoVAL MutationType:missense_variant;transversion CAID:CA351753642 ClinVarID:N/A Familial FamilyPedigree inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/19133167/
  3. Oct 2026
  4. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genotype–phenotype correlations in von Hippel-Lindau disease
    1
    1. ClingenBaseline 29 Oct 2026

      GroupID: 66

      DiseaseAssertion: assumed VHL

      GroupSize: 3

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: 3 of the 573 patients discussed in this paper were found to have identical variants. This mutation (c.346C>G) was found in 1 VHL family with 3 patients.

      GroupPresentingHPOs: HP:0009711 (retinal capillary hemangioma)

      GroupHPOFreeText: 3 patients had retinal capillary hemangioma (RH), with a mean age of diagnosis of 43Y (RH).

      GroupNotHPOs: HP:0002666; HP:0006880; HP:0005584 (pheochromocytoma; cerebellar hemangioblastoma; renal cell carcinoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table S1.

      Variant: p.L116V (c.346C>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA351753642 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.346C%3EG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: L116V (c.346C>G)

      MultipleGeneVariants: N/A

      CAID:CA351753642 ClinVarID:N/A Familial FamilyCohort DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma SupplementalData Mutation:Germline ExperimentalAssay InheritancePattern:AutosomalDominant RefSeq:NM_000551.2 ProteinPosition:116 cDNAposition:346 MutationType:missense_variant;transversion CivicName:L116V(c.346C>G) AminoAcidChange:LEUtoVAL inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/abs/10.1002/humu.20385
  5. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Familial and genetic researches on three Chinese families with von Hippel-Lindau disease
    4
    1. ClingenBaseline 26 Oct 2026
      Meanwhile, it was also found that the guanine replaced the 559th cytosine on one patient and two carriers from the third family, which made the 116th leucine replaced by valine.

      PatientID: III-2

      KindredID: 3

      Case: F, Age Unknown (deceased), Chinese

      DiseaseAssertion: CNS Hemangioblastoma

      FamilyInfo: The transition mutation was found and confirmed in 1 patient (II-3) and 2 carriers (III-7, IV-2). 5 members, including III-2, had hemangioblastomas of the CNS, but had all passed away before genetic testing. Could be assumed and deduced the genetics due to pedigree showing future linear relations of this mutation.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L116V (c.346C>G) [assumed]

      LegacyVariant: p.L116V (c.559C>G) [assumed]

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351753642 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.346C%3EG

      gnomAD: N/A

      VariantEvidence: No genetic testing was done prior to death, however family history and presentation leads to this deduction

      MutationType: missense_variant;transversion

      CivicName: L116V (c.346C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:hemangioblastoma Mutation:Germline RefSeq:AF010238.1 CivicName:L116V(c.346C>G) cDNAposition:346 ProteinPosition:116 AminoAcidChange:LEUtoVAL MutationType:missense_variant;transversion CAID:CA351753642 ClinVarID:N/A Familial FamilyPedigree inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 26 Oct 2026
      Meanwhile, it was also found that the guanine replaced the 559th cytosine on one patient and two carriers from the third family, which made the 116th leucine replaced by valine.

      PatientID: III-3

      KindredID: 3

      Case: M, Age Unknown (deceased), Chinese

      DiseaseAssertion: CNS Hemangioblastoma

      FamilyInfo: The transition mutation was found and confirmed in 1 patient (II-3) and 2 carriers (III-7, IV-2). 5 members, including III-3, had hemangioblastomas of the CNS, but had all passed away before genetic testing. Could be assumed and deduced the genetics due to pedigree showing future linear relations of this mutation.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L116V (c.346C>G) [assumed]

      LegacyVariant: p.L116V (c.559C>G) [assumed]

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351753642 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.346C%3EG

      gnomAD: N/A

      VariantEvidence: No genetic testing was done prior to death, however family history and presentation leads to this deduction

      MutationType: missense_variant;transversion

      CivicName: L116V (c.346C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:hemangioblastoma Mutation:Germline RefSeq:AF010238.1 CivicName:L116V(c.346C>G) cDNAposition:346 ProteinPosition:116 AminoAcidChange:LEUtoVAL MutationType:missense_variant;transversion CAID:CA351753642 ClinVarID:N/A Familial FamilyPedigree inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    3. ClingenBaseline 24 Oct 2026
      Meanwhile, it was also found that the guanine replaced the 559th cytosine on one patient and two carriers from the third family, which made the 116th leucine replaced by valine.

      PatientID: III-1

      KindredID: 3

      Case: M, Age Unknown (deceased), Chinese

      DiseaseAssertion: CNS Hemangioblastoma

      FamilyInfo: The transition mutation was found and confirmed in 1 patient (II-3) and 2 carriers (III-7, IV-2). 5 members, including III-1, had hemangioblastomas of the CNS, but had all passed away before genetic testing. Could be assumed and deduced the genetics due to pedigree showing future linear relations of this mutation.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L116V (c.346C>G) [assumed]

      LegacyVariant: p.L116V (c.559C>G) [assumed]

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351753642 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.346C%3EG

      gnomAD: N/A

      VariantEvidence: No genetic testing was done prior to death, however family history and presentation leads to this deduction

      MutationType: missense_variant;transversion

      CivicName: L116V (c.346C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:hemangioblastoma Mutation:Germline RefSeq:AF010238.1 ProteinPosition:116 CivicName:L116V(c.346C>G) cDNAposition:346 AminoAcidChange:LEUtoVAL MutationType:missense_variant;transversion CAID:CA351753642 ClinVarID:N/A Familial FamilyPedigree inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    4. ClingenBaseline 21 Oct 2026
      Meanwhile, it was also found that the guanine replaced the 559th cytosine on one patient and two carriers from the third family, which made the 116th leucine replaced by valine.

      PatientID: III-7

      KindredID: 3

      Case: F, Age Unknown, Chinese

      DiseaseAssertion: asymptomatic

      FamilyInfo: The transition mutation was found and confirmed in this patient’s mother (II-3) and 2 carriers, her, and her first-cousin once removed (III-7, IV-2). 5 additional members had hemangioblastomas of the CNS, but had all passed away before genetic testing. Could be assumed and deduced the genetics due to pedigree showing future linear relations of this mutation.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Stated as carrier, however she is young (likely before the age of onset)

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L116V (c.346C>G)

      LegacyVariant: p.L116V (c.559C>G)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351753642 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.346C%3EG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: L116V (c.346C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline RefSeq:AF010238.1 CivicName:L116V(c.346C>G) cDNAposition:346 ProteinPosition:116 AminoAcidChange:LEUtoVAL MutationType:missense_variant;transversion CAID:CA351753642 ClinVarID:N/A Familial FamilyPedigree DiseaseEntity:asymptomatic inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/19133167/