8 Matching Annotations
  1. Last 7 days
  2. www.sciencedirect.com www.sciencedirect.com
    Novel and recurrent germline mutations in the VHL gene in 5 Arab patients with Von Hippel-Lindau disease
    4
    1. ClingenBaseline 21 Oct 2026
      Table 1

      PatientID: N/A

      KindredID: 13

      Case: F, Age Unknown, Indian

      DiseaseAssertion: VHL

      FamilyInfo: Family history not mentioned. Patient’s variant reported as germline.

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: Patient had Unilateral PH (see table 1). Previously published 2018 paper (PMID:29124493) reports patient as an Indian 45Y female.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 29124493

      SupplementalData:  N/A

      Variant: p.F76del (c.227_229del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA357012, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.227_229delTCT

      gnomAD: N/A

      VariantEvidence: Variant reported as c.224_226del and was mapped to c.227_229del.

      MutationType: inframe_deletion

      CivicName: F76del (c.227_229del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Indian Mutation:Germline MutationType:inframe_deletion CivicName:F76del(c.227_229del) cDNAposition:227 ProteinPosition:76 ClinVarID:N/A CAID:CA357012 DiseaseEntity:VHL DiseaseEntity:pheochromocytoma AssumedRefSeq:NM_000551.3 NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      Table 1

      PatientID: N/A

      KindredID: 9

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Family history not mentioned. Patient’s variant reported as germline.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Patient had VHL disease.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 28388566

      SupplementalData:  N/A

      Variant: p.F76del (c.227_229del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA357012, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.227_229delTCT

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_deletion

      CivicName: F76del (c.227_229del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:inframe_deletion CivicName:F76del(c.227_229del) cDNAposition:227 ProteinPosition:76 ClinVarID:N/A CAID:CA357012 DiseaseEntity:VHL NoFamilyInfo AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    3. ClingenBaseline 21 Oct 2026
      Table 1

      PatientID: N/A

      KindredID: 13

      Case: F, Age Unknown, Indian

      DiseaseAssertion: VHL

      FamilyInfo: Family history not mentioned. Patient’s variant reported as germline.

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: Patient had Unilateral PH (see table 1). Previously published 2018 paper (PMID:29124493) reports patient as an Indian 45Y female.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 29124493

      SupplementalData:  N/A

      Variant: p.F76del (c.227_229del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA357012, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.227_229delTCT

      gnomAD: N/A

      VariantEvidence: Variant reported as c.224_226del and was mapped to c.227_229del.

      MutationType: inframe_deletion

      CivicName: F76del (c.227_229del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Indian Mutation:Germline MutationType:inframe_deletion CivicName:F76del(c.227_229del) cDNAposition:227 ProteinPosition:76 ClinVarID:N/A CAID:CA357012 DiseaseEntity:VHL DiseaseEntity:pheochromocytoma AssumedRefSeq:NM_000551.3 NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    4. ClingenBaseline 21 Oct 2026
      Table 1

      PatientID: N/A

      KindredID: 9

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Family history not mentioned. Patient’s variant reported as germline.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Patient had VHL disease.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 28388566

      SupplementalData:  N/A

      Variant: p.F76del (c.227_229del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA357012, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.227_229delTCT

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_deletion

      CivicName: F76del (c.227_229del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:inframe_deletion CivicName:F76del(c.227_229del) cDNAposition:227 ProteinPosition:76 ClinVarID:N/A CAID:CA357012 DiseaseEntity:VHL NoFamilyInfo AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/abs/pii/S2210776220301460
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma
    2
    1. ClingenBaseline 21 Oct 2026
      PMID: 7977367

      KindredID: 17

      DiseaseAssertion: VHL

      GroupSize: Unknown

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: This is a family belonging to prefigure No. 17. They are described as ‘VHL-affected’.

      GroupPresentingHPOs: HP:0005584 (renal cell carcinoma)

      GroupHPOFreeText: RCC-affected; other manifestations are possible but not clear.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.76delF (c.227_229delTTC)

      LegacyVariant: p.147delF (c.437_439del3)

      CaseProblemVariantFreeText: c.224_226 automaps to NM_000551.3:c.227_229delTCT (updated; verified)

      ClinVarID: N/A

      CAID: CA357012 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.227_229del

      gnomAD: N/A

      VariantEvidence:N/A

      MutationType: inframe_deletion

      CivicName: F76del (c.227_229delTCT)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma RefSeq:AF010238.1 Mutation:Germline cDNAposition:227 cDNAposition:229 CivicName:F76del(c.227_229delTCT) ProteinPosition:76 MutationType:inframe_deletion Familial CAID:CA357012 ClinVarID:N/A inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      PMID: 7977367

      KindredID: 17

      DiseaseAssertion: VHL

      GroupSize: Unknown

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: This is a family belonging to prefigure No. 17. They are described as ‘VHL-affected’.

      GroupPresentingHPOs: HP:0005584 (renal cell carcinoma)

      GroupHPOFreeText: RCC-affected; other manifestations are possible but not clear.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.76delF (c.227_229delTTC)

      LegacyVariant: p.147delF (c.437_439del3)

      CaseProblemVariantFreeText: c.224_226 automaps to NM_000551.3:c.227_229delTCT (updated; verified)

      ClinVarID: N/A

      CAID: CA357012 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.227_229del

      gnomAD: N/A

      VariantEvidence:N/A

      MutationType: inframe_deletion

      CivicName: F76del (c.227_229delTCT)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma RefSeq:AF010238.1 Mutation:Germline cDNAposition:227 cDNAposition:229 CivicName:F76del(c.227_229delTCT) ProteinPosition:76 MutationType:inframe_deletion Familial CAID:CA357012 ClinVarID:N/A inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/7977367/
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.
    2
    1. ClingenBaseline 21 Oct 2026
      VHL kindreds for germline mutations and calculated the age related tumour risks for different classes of VHL gene mutations.

      PatientID: None

      KindredID: 134

      Case: Age, sex ethnicity unknown

      DiseaseAssertion: unknown; paper focused only on pheochromocytoma

      FamilyInfo: No specific family info was present; although this was recorded as a family germline mutation belonging to Family ID 134

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Unknown

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 32179488, 17024664

      SupplementalData: N/A

      Variant: p.F76del (c.227_229delTCT)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.F76del (c.440delTCT)

      ClinVarID: N/A

      CAID: CA357012 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.227_229delTCT

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_deletion

      CivicName: F76del (c.227_229delTTC)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline RefSeq:AF010238.1 CivicName:F76del(c.227_229delTCT) cDNAposition:227 ProteinPosition:76 MutationType:inframe_deletion CAID:CA357012 ClinVarID:N/A DiseaseEntity:asymptomatic Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      VHL kindreds for germline mutations and calculated the age related tumour risks for different classes of VHL gene mutations.

      PatientID: None

      KindredID: 134

      Case: Age, sex ethnicity unknown

      DiseaseAssertion: unknown; paper focused only on pheochromocytoma

      FamilyInfo: No specific family info was present; although this was recorded as a family germline mutation belonging to Family ID 134

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Unknown

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 32179488, 17024664

      SupplementalData: N/A

      Variant: p.F76del (c.227_229delTCT)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.F76del (c.440delTCT)

      ClinVarID: N/A

      CAID: CA357012 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.227_229delTCT

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_deletion

      CivicName: F76del (c.227_229delTTC)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline RefSeq:AF010238.1 CivicName:F76del(c.227_229delTCT) cDNAposition:227 ProteinPosition:76 MutationType:inframe_deletion CAID:CA357012 ClinVarID:N/A DiseaseEntity:asymptomatic Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC1050584/