5 Matching Annotations
  1. Last 7 days
  2. journals.lww.com journals.lww.com
    Six weeks into the 2019 coronavirus disease (COVID-19)... : Chinese Medical Journal
    1
    1. ClingenBaseline 04 Nov 2026

      PatientID: 16

      KindredID: 16

      Case: F, 50Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0009726; HP:0010797 (Renal neoplasm, Hemangioblastoma)

      CaseHPOFreeText: Patient 16 had genetic testing and was found to have a germline mutation c.286C>T (Gln96*).

      CaseNotHPOs:None

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q96* (c.286C>T)

      LegacyVariant: c.499C>T

      CaseProblemVariantFreeText: N/A

      ClinVar: 428804, https://www.ncbi.nlm.nih.gov/clinvar/variation/428804/

      CAID: CA351750811

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_transition

      CivicName: Q96* (c.286C>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:hemangioblastoma DiseaseEntity:renalneoplasm DiseaseEntity:VHL Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:286 ProteinPosition:96 AminoAcidChange:GLNtoTER ClinVarID:428804 CAiD:CA351750811 MutationType:missense_variant;transition CivicName:Q96*(c.286C>T) Familial ClinVarID:Yes Ethnicity:Chinese inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    journals.lww.com/cmj/fulltext/2007/11020/management_of_solid_renal_tumour_associated_with.22.aspx
  3. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genetic characterization and structural analysis of VHL Spanish families to define genotype–phenotype correlations
    1
    1. ClingenBaseline 02 Nov 2026

      GroupID/ KindredID: F66

      Case: Sex unknown, 12Y0M, Spanish

      DiseaseAssertion: assumed VHL

      FamilyInfo: familial antecedents found of pancreatic cysts

      CasePresentingHPOs: HP:0009711 (retinal capillary hemangioma)

      CaseHPOFreeText: Multiple lesions on their retinal hemangioblastoma. Age of onset is 12Y0M.

      CaseNotHPOs: HP:0006880; HP:0002666; HP:0000107; HP:0001737; HP:0006770 (cerebellar hemangioblastoma, pheochromocytoma, renal cysts, pancreatic cysts, clear cell renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q96* (c.286C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 428804 https://www.ncbi.nlm.nih.gov/clinvar/variation/428804/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Q96* (c.286C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Familial Mutation:Germline Ethnicity:Spanish DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma RefSeq:AF010238.1 CivicName:Q96*(c.286C>T) cDNAposition:286 AminoAcidChange:GLNtoTER ProteinPosition:96 MutationType:stop_gained ClinVarID:428804 ClinVarID:Yes ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/abs/10.1002/humu.10309
  4. 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 01 Nov 2026

      PatientID: None

      KindredID: 25

      Case: Sex Unknown, Age Unknown, Japanese

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0005584; HP:0001732; HP:0009711 (Renal cell carcinoma, Abnormality of the pancreas, Retinal capillary hemangioma)

      CaseHPOFreeText: Retinal angioma, renal cell carcinoma and pancreatic cyst or tumor (unspecified).

      CaseNotHPOs: HP:0010797 (Hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 8634692

      SupplementalData: N/A

      Variant: p.Q96_P97delinsH (c.288_290del)

      LegacyVariant: c.501_503del

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA2573106244, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.288_290del

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_deletion; deletion

      CivicName: Q96_P97delinsH (c.288_290del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Japanese DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:abnormalityofthepancreas Mutation:Germline RefSeq:AF010238.1 cDNAposition:288 ProteinPosition:96 AminoAcidChange:GLNtoHIS ClinVarID:N/A CAID:CA2573106244 MutationType:deletion MutationType:inframe_deletion CivicName:Q96_P97delinsH(c.288_290del) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/10761708/
  5. Oct 2026
  6. 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 23 Oct 2026

      GroupID: 90

      DiseaseAssertion: VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: Japanese

      GroupAgeRange: N/A

      GroupInfo: 2 individuals from a single family (ID 90).

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

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

      GroupNotHPOs: HP:0009711 (Retinal capillary hemangioma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q96del (c.287_289del)

      LegacyVariant: c.498_500del

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA645524809, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.287_289del

      gnomAD: N/A

      VariantEvidence: Variant reported as c.498_500del and mapped to c.285_287del which is equivalent to c.287_289del.

      MutationType: deletion; inframe_deletion

      CivicName: Q96del (c.287_289del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Japanese DiseaseEntity:VHL DiseaseEntity:abnormalityofthepancreas DiseaseEntity:hemangioblastoma DiseaseEntity:renalcellcarcinoma Mutation:Germline RefSeq:AF010238.1 cDNAposition:287 ProteinPosition:96 AminoAcidChange:N/A ClinVarID:N/A CAID:CA645524809 MutationType:inframe_deletion MutationType:deletion CivicName:Q96del(c.287_289del) Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/10761708/
  7. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Exploring the role of defective fibronectin matrix assembly in the VHL-associated CNS hemangioblastoma
    1
    1. ClingenBaseline 21 Oct 2026
      PMID: 29813026

      PatientID: 1

      KindredID: 1

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: hemangioblastoma

      FamilyInfo: N/A - Not specified

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: VHL syndromic HB

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q96_P102del (c.287_307del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA2573106190 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573106190

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_deletion

      CivicName: Q96_P102del (c.287_307del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:Q96_P102del(c.287_307del) ProteinPosition:96 cDNAposition:287 MutationType:inframe_deletion CAID:CA2573106190 ClinVarID:N/A NoFamilyInfo ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/29813026/