6 Matching Annotations
  1. Oct 2026
  2. jmg-bmj-com.uhn.idm.oclc.org jmg-bmj-com.uhn.idm.oclc.org
    Evidence for genetic anticipation in vonHippel-Lindau syndrome
    3
    1. ClingenBaseline 29 Oct 2026

      PatientID: 8 (Cousin)

      KindredID: 17

      Case: F, 4Y0M, Ethnicity Unknown

      DiseaseAssertion: Asymptomatic

      FamilyInfo: 6 members of this family tested positive for the c.496_506del germline variant of the VHL gene. ID 4 presented with CNS hemangioblastoma, retinal angioma and renal and pancreatic abnormalities. ID 1 and 25 were asymptomatic.ID 22 presented with CNS hemangioblastoma. ID 5 presented with retinal angioma. 2 members were assumed to have the variant but were not genetically confirmed (ID 20 and ID 11). ID 11 and 20 presented with CNS hemangioblastoma.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0005584; HP:0002666; HP:0010797; HP:0000077; HP:0001732; HP:0009711 (Renal cell carcinoma, Pheochromocytoma, Hemangioblastoma, Abnormality of the kidney, Abnormality of the pancreas, Retinal capillary hemangioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table 1.

      Variant: p.V166Sfs*4 (c.496_506del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223229, https://www.ncbi.nlm.nih.gov/clinvar/variation/223229/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/AVariantEvidence: It is unclear from the publication if this variant is reported according to legacy (AF010238.1) or NM_000551.3 reference sequence. Clinical notes from the case confirm the reference sequence to be NM_000551.3.

      MutationType: deletion; minus_2_frameshift_variant

      CivicName: V166SFS*4 (c.496_506del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:Asymptomatic Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:496 ProteinPosition:166 AminoAcidChange:VALtoSER ClinVarID:223229 ClinVarID:Yes MutationType:deletion MutationType:minus_2_frameshift_variant CivicName:V166Sfs*4(c.496_506del) Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 25 Oct 2026

      PatientID: 5 (Aunt)

      KindredID: 17

      Case: F, 38Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: 6 members of this family tested positive for the c.496_506del germline variant of the VHL gene. ID 4 presented with CNS hemangioblastoma, retinal angioma and renal and pancreatic abnormalities. ID 1, 25 and 8 were asymptomatic.ID 22 presented with CNS hemangioblastoma. 2 members were assumed to have the variant but were not genetically confirmed (ID 20 and ID 11). ID 11 and 20 presented with CNS hemangioblastoma.

      CasePresentingHPOs: HP:0009711 (Retinal capillary hemangioma)

      CaseHPOFreeText: This patient presented with retinal angioma (16Y).

      CaseNotHPOs: HP:0005584; HP:0002666; HP:0010797; HP:0000077; HP:0001732 (Renal cell carcinoma, Pheochromocytoma, Hemangioblastoma, Abnormality of the kidney, Abnormality of the pancreas)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table 1.

      Variant: p.V166Sfs*4 (c.496_506del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223229, https://www.ncbi.nlm.nih.gov/clinvar/variation/223229/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: It is unclear from the publication if this variant is reported according to legacy (AF010238.1) or NM_000551.3 reference sequence. Clinical notes from the case confirm the reference sequence to be NM_000551.3.

      MutationType: deletion; minus_2_frameshift_variant

      CivicName: V166SFS*4 (c.496_506del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:retinalcapillaryhemangioma:16 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:496 ProteinPosition:166 AminoAcidChange:VALtoSER ClinVarID:223229 ClinVarID:Yes MutationType:deletion MutationType:minus_2_frameshift_variant CivicName:V166Sfs*4(c.496_506del) Familial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    3. ClingenBaseline 21 Oct 2026

      PatientID: 1 (Proband)

      KindredID: 17

      Case: F, 3Y0M, Ethnicity Unknown

      DiseaseAssertion: Asymptomatic

      FamilyInfo: 6 members of this family tested positive for the c.496_506del germline variant of the VHL gene. ID 4 presented with CNS hemangioblastoma, retinal angioma and renal and pancreatic abnormalities. ID 25 and 8 were asymptomatic.ID 22 presented with CNS hemangioblastoma. ID 5 presented with retinal angioma. 2 members were assumed to have the variant but were not genetically confirmed (ID 20 and ID 11). ID 11 and 20 presented with CNS hemangioblastoma.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0005584; HP:0002666; HP:0010797; HP:0000077; HP:0001732; HP:0009711 (Renal cell carcinoma, Pheochromocytoma, Hemangioblastoma, Abnormality of the kidney, Abnormality of the pancreas, Retinal capillary hemangioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table 1.

      Variant: p.V166Sfs*4 (c.496_506del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223229, https://www.ncbi.nlm.nih.gov/clinvar/variation/223229/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: It is unclear from the publication if this variant is reported according to legacy (AF010238.1) or NM_000551.3 reference sequence. Clinical notes from the case confirm the reference sequence to be NM_000551.3.

      MutationType: deletion; minus_2_frameshift_variant

      CivicName: V166SFS*4 (c.496_506del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:Asymptomatic Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:496 ProteinPosition:166 AminoAcidChange:VALtoSER ClinVarID:223229 ClinVarID:Yes MutationType:deletion MutationType:minus_2_frameshift_variant CivicName:V166Sfs*4(c.496_506del) Familial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    jmg-bmj-com.uhn.idm.oclc.org/content/55/6/395
  3. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Comprehensive characterization of a Canadian cohort of von Hippel-Lindau disease patients
    3
    1. ClingenBaseline 24 Oct 2026
      c.496_506del11 (p.Val166Serfs*4) in seven individuals, belonging to two pedigrees.

      PatientID: 44

      KindredID: 44

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797; HP:0006770 (hemangioblastoma; clear cell renal cell carcinoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0100634; HP:0030405; HP:0009711; HP:0030421 (Neuroendocrine neoplasm, pancreatic neuroendocrine neoplasm, retinal capillary hemangioma, Epididymal neoplasm)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 29437867 (likely family 17 - see here for more info)

      SupplementalData: Yes; see table S1 for VHL subject genetic and manifestation information.

      Variant: p.V166Sfs*4 (c.496_506del11)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223229 https://www.ncbi.nlm.nih.gov/clinvar/variation/223229/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_2_frameshift_variant

      CivicName: V166Sfs*4 (c.496_506del)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:clearcellrenalcellcarcinoma Mutation:Germline RefSeq:NM_000551.3 SupplementalData ProteinPosition:166 CivicName:V166Sfs*4(c.496_506del) cDNAposition:496 AminoAcidChange:VALtoSER MutationType:minus_2_frameshift_variant ClinVarID:223229 ClinVarID:Yes NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 22 Oct 2026
      c.496_506del11 (p.Val166Serfs*4) in seven individuals, belonging to two pedigrees.

      PatientID: 65

      KindredID: 65

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0006770; HP:0100634; HP:0030405; HP:0009711; HP:0030421 (clear cell renal cell carcinoma; Neuroendocrine neoplasm, pancreatic neuroendocrine neoplasm, retinal capillary hemangioma, Epididymal neoplasm)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 29437867 (likely family 17 - see here for more info)

      SupplementalData: Yes; see table S1 for VHL subject genetic and manifestation information.

      Variant: p.V166Sfs*4 (c.496_506del11)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223229 https://www.ncbi.nlm.nih.gov/clinvar/variation/223229/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_2_frameshift_variant

      CivicName: V166Sfs*4 (c.496_506del)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:hemangioblastoma ProteinPosition:166 CivicName:V166Sfs*4(c.496_506del) cDNAposition:496 AminoAcidChange:VALtoSER MutationType:minus_2_frameshift_variant ClinVarID:Yes ClinVarID:223229 NoFamilyInfo Mutation:Germline RefSeq:NM_000551.3 SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    3. ClingenBaseline 21 Oct 2026
      c.496_506del11 (p.Val166Serfs*4) in seven individuals, belonging to two pedigrees.

      PatientID: 82

      KindredID: 82

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0009711; HP:0010797 (retinal capillary hemangioma, hemangioblastoma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0006770; HP:0100634; HP:0030405; HP:0030421 (clear cell renal cell carcinoma; Neuroendocrine neoplasm, pancreatic neuroendocrine neoplasm, Epididymal neoplasm)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 29437867 (likely family 17 - see here for more info)

      SupplementalData: Yes; see table S1 for VHL subject genetic and manifestation information.

      Variant: p.V166Sfs*4 (c.496_506del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223229 https://www.ncbi.nlm.nih.gov/clinvar/variation/223229/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_2_frameshift_variant

      CivicName: V166Sfs*4 (c.496_506del)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma ClinVarID:Yes ClinVarID:223229 SupplementalData Mutation:Germline NoFamilyInfo RefSeq:NM_000551.3 ProteinPosition:166 CivicName:V166Sfs*4(c.496_506del) cDNAposition:496 AminoAcidChange:VALtoSER MutationType:minus_2_frameshift_variant inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    URL

    onlinelibrary.wiley.com/doi/full/10.1111/cge.13613