6 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 03 Nov 2026
      The cytosine replaced the 716th guanine on four patients and three carriers of virulence gene from the first family, which made the 168th serine replaced by threonine.

      PatientID: III-2

      KindredID: 1

      Case: M, Age Unknown, Chinese

      DiseaseAssertion: CNS Hemangioblastoma

      FamilyInfo: The transversion mutation was found and confirmed in 4 patients (II-2, III-2, III-6, III-10, III-11) and 3 carriers (III-3, III-9, III-14). At least 5 additional members had VHL phenotypes, but had all passed away before genetic testing. Could be assumed and deduced their genetics due to pedigree showing future linear relations of this mutation all in generation III.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S168T (c.503G>C)

      LegacyVariant: p.S168T (c.716G>C)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351756183 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.503G%3EC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: S168T (c.503G>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese DiseaseEntity:hemangioblastoma Mutation:Germline RefSeq:AF010238.1 CAID:CA351756183 ClinVarID:N/A CivicName:S168T(c.503G>C) cDNAposition:503 ProteinPosition:168 AminoAcidChange:SERtoTHR MutationType:missense_variant;transversion Familial FamilyPedigree inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 30 Oct 2026
      The cytosine replaced the 716th guanine on four patients and three carriers of virulence gene from the first family, which made the 168th serine replaced by threonine.

      PatientID: II-1

      KindredID: 1

      Case: M, Age Unknown (deceased), Chinese

      DiseaseAssertion: assumed VHL

      FamilyInfo: The transversion mutation was found and confirmed in 4 patients (II-2, III-2, III-6, III-10, III-11) and 3 carriers (III-3, III-9, III-14). At least 5 additional members had VHL phenotypes, but had all passed away before genetic testing. Could be assumed and deduced their genetics due to pedigree showing future linear relations of this mutation all in generation III.

      CasePresentingHPOs: HP:0010797; HP:0009726 (hemangioblastoma; renal neoplasm)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S168T (c.503G>C) [assumed]

      LegacyVariant: p.S168T (c.716G>C) [assumed]

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351756183 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.503G%3EC

      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: S168T (c.503G>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:hemangioblastoma DiseaseEntity:renalneoplasm CivicName:S168T(c.503G>C) cDNAposition:503 AminoAcidChange:SERtoTHR MutationType:missense_variant;transversion ProteinPosition:168 CAID:CA351756183 ClinVarID:N/A Familial FamilyPedigree inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    3. ClingenBaseline 30 Oct 2026
      The cytosine replaced the 716th guanine on four patients and three carriers of virulence gene from the first family, which made the 168th serine replaced by threonine.

      PatientID: II-6

      KindredID: 1

      Case: M, Age Unknown (deceased), Chinese

      DiseaseAssertion: pancreatic cancer

      FamilyInfo: The transversion mutation was found and confirmed in 4 patients (II-2, III-2, III-6, III-10, III-11) and 3 carriers (III-3, III-9, III-14). At least 5 additional members had VHL phenotypes, but had all passed away before genetic testing. Could be assumed and deduced their genetics due to pedigree showing future linear relations of this mutation all in generation III.

      CasePresentingHPOs: HP:0002894 (neoplasm of the pancreas)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S168T (c.503G>C) [assumed]

      LegacyVariant: p.S168T (c.716G>C) [assumed]

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351756183 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.503G%3EC

      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: S168T (c.503G>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline Ethnicity:Chinese RefSeq:AF010238.1 DiseaseEntity:neoplasmofthepancreas cDNAposition:503 ProteinPosition:168 MutationType:missense_variant;transversion CivicName:S168T(c.503G>C) AminoAcidChange:SERtoTHR CAID:CA351756183 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. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Familial and genetic researches on three Chinese families with von Hippel-Lindau disease
    2
    1. ClingenBaseline 29 Oct 2026
      The cytosine replaced the 716th guanine on four patients and three carriers of virulence gene from the first family, which made the 168th serine replaced by threonine.

      PatientID: II-5

      KindredID: 1

      Case: M, Age Unknown (deceased), Chinese

      DiseaseAssertion: pancreatic cancer

      FamilyInfo: The transversion mutation was found and confirmed in 4 patients (II-2, III-2, III-6, III-10, III-11) and 3 carriers (III-3, III-9, III-14). At least 5 additional members had VHL phenotypes, but had all passed away before genetic testing. Could be assumed and deduced their genetics due to pedigree showing future linear relations of this mutation all in generation III.

      CasePresentingHPOs: HP:0002894 (neoplasm of the pancreas)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S168T (c.503G>C) [assumed]

      LegacyVariant: p.S168T (c.716G>C) [assumed]

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351756183 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.503G%3EC

      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: S168T (c.503G>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:neoplasmofthepancreas CAID:CA351756183 ClinVarID:N/A CivicName:S168T(c.503G>C) cDNAposition:503 ProteinPosition:168 AminoAcidChange:SERtoTHR MutationType:missense_variant;transversion Familial FamilyPedigree inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 22 Oct 2026
      The cytosine replaced the 716th guanine on four patients and three carriers of virulence gene from the first family, which made the 168th serine replaced by threonine.

      PatientID: III-14

      KindredID: 1

      Case: M, Age Unknown, Chinese

      DiseaseAssertion: asymptomatic

      FamilyInfo: The transversion mutation was found and confirmed in 4 patients (II-2, III-2, III-6, III-10, III-11) and 3 carriers (III-3, III-9, III-14). At least 5 additional members had VHL phenotypes, but had all passed away before genetic testing. Could be assumed and deduced their genetics due to pedigree showing future linear relations of this mutation all in generation III.

      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.S168T (c.503G>C)

      LegacyVariant: p.S168T (c.716G>C)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351756183 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.503G%3EC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: S168T (c.503G>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:asymptomatic CivicName:S168T(c.503G>C) cDNAposition:503 ProteinPosition:168 AminoAcidChange:SERtoTHR MutationType:missense_variant;transversion CAID:CA351756183 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/
  5. 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
    1
    1. ClingenBaseline 26 Oct 2026

      GroupID: 63

      DiseaseAssertion: VHL

      GroupSize: 3

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: Japanese

      GroupAgeRange: N/A

      GroupInfo: 3 individuals from a single family (ID 63).

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

      GroupHPOFreeText: CNS hemangioblastoma (2/3), renal cell carcinoma (3/3) and pancreatic cyst or tumor (unspecified) (1/3).

      GroupNotHPOs: HP:0009711 (Retinal capillary hemangioma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S168Tfs*2 (c.503_513del)

      LegacyVariant: c.716_726del (c.716del11bp)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA2573131812, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573131812

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: deletion; minus_2_frameshift_variant

      CivicName: S168Tfs*2 (c.503_513del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Japanese DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:abnormalityofthepancreas DiseaseEntity:renalcellcarcinoma Mutation:Germline RefSeq:AF010238.1 cDNAposition:503 ProteinPosition:168 AminoAcidChange:SERtoTHR ClinVarID:N/A CAID:CA2573131812 MutationType:minus_2_frameshift_variant MutationType:deletion CivicName:S168Tfs*2(c.503_513del) Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/10761708/