6 Matching Annotations
  1. Last 7 days
  2. www.liebertpub.com www.liebertpub.com
    VHL Germline Mutations in Argentinian Patients with Clinical Diagnoses or Single Typical Manifestations of Type 1 von Hippel-Lindau Disease
    4
    1. ClingenBaseline 04 Nov 2026
      nonsense mutations (6/16)

      PatientID: 11

      KindredID: 11

      Case: 30Y0M, Sex Unknown, Argentinian

      DiseaseAssertion: VHL

      FamilyInfo: No family history

      CasePresentingHPOs: HP:0010797; HP:0009711; HP:0000107; HP:0001737 (hemangioblastoma; retinal capillary hemangioma; renal cyst; pancreatic cysts)

      CaseHPOFreeText: Aged 30Y at diagnosis (genetic testing); fulfils type 1 VHL clinical diagnosis. CNS angiomas, retinal angiomas, renal cysts and pancreatic cysts all diagnosed at 30Y (See Table 1 & 2).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.W88* (c.263G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182978 https://www.ncbi.nlm.nih.gov/clinvar/variation/182978/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: W88* (c.263G>A)

      MultipleGeneVariants: N/A

      Ethnicity:Argentinian DiseaseEntity:VHL DiseaseEntity:hemangioblastoma AgeOfPresentation:hemangioblastoma:30 DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:retinalcapillaryhemangioma:30 DiseaseEntity:renalcyst AgeOfPresentation:renalcyst:30 DiseaseEntity:pancreaticcysts AgeOfPresentation:pancreaticcysts:30 Mutation:Germline RefSeq:NM_000551.3 NonFamilial AminoAcidChange:TRPtoTER ProteinPosition:88 CivicName:W88*(c.263G>A) cDNAposition:263 MutationType:stop_gained ClinVarID:182978 ClinVarID:Yes ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 04 Nov 2026
      one nonsense VHL mutation was detected in a young patient with a solitary central nervous system hemangioblastoma without familial history.

      PatientID: 22

      KindredID: 22

      Case: 13Y0M, Sex Unknown, Argentinian

      DiseaseAssertion: hemangioblastoma

      FamilyInfo: No family history

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: Aged 13Y at diagnosis (genetic testing); does not fulfil type 1 VHL clinical diagnosis. Solitary CNS angiomas diagnosed at 13Y (See Table 1 & 2).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: did not develop other manifestations of the disease during a 5- year follow-up.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.W88* (c.264G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 936684 https://www.ncbi.nlm.nih.gov/clinvar/variation/936684/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: W88* (c.264G>A)

      MultipleGeneVariants: N/A

      ClinVarID:936684 ClinVarID:Yes Ethnicity:Argentinian DiseaseEntity:hemangioblastoma AgeOfPresentation:hemangioblastoma:13 Mutation:Germline RefSeq:NM_000551.3 CivicName:W88*(c.264G>A) cDNAposition:264 ProteinPosition:88 AminoAcidChange:TRPtoTER MutationType:stop_gained NonFamilial ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    3. ClingenBaseline 01 Nov 2026
      frameshift mutations (4/16)

      PatientID: 10

      KindredID: 10

      Case: 30Y0M, Sex Unknown, Argentinian

      DiseaseAssertion: VHL

      FamilyInfo: Thus far, it has not been possible to study the parents or close relatives of this patient.

      CasePresentingHPOs: HP:0010797; HP:0006770; HP:0000107 (hemangioblastoma; clear cell renal cell carcinoma; renal cysts)

      CaseHPOFreeText: Aged 29Y at diagnosis (genetic testing); fulfils type 1 VHL clinical diagnosis. CNS hemangioblastoma diagnosed at 29Y, ccRCC and renal cysts were diagnosed at 30Y (See Table 1 & 2).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: Q73Pfs*59 (c.217dupC)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA2497030271 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2497030271

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_1_frameshift_variant; duplication

      CivicName: Q73Pfs*59 (c.217dupC)

      MultipleGeneVariants: N/A

      Ethnicity:Argentinian DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:renalcyst AgeOfPresentation:hemangioblastoma:29 AgeOfPresentation:renalcyst:30 AgeOfPresentation:clearcellrenalcellcarcinoma:30 MutationType:plus_1_frameshift_variant MutationType:duplication cDNAposition:217 ProteinPosition:73 CivicName:Q73Pfs*59(c.217dupC) AminoAcidChange:GLNtoPRO CAID:CA2497030271 ClinVarID:N/A RefSeq:NM_000551.3 Mutation:Germline ExperimentalAssay NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    4. ClingenBaseline 30 Oct 2026
      nonsense mutations (6/16)

      PatientID: 9

      KindredID: 9

      Case: 25Y0M, Sex Unknown, Argentinian

      DiseaseAssertion: VHL

      FamilyInfo: No family history

      CasePresentingHPOs: HP:0010797; HP:0005584; HP:0001737; HP:0000107 (hemangioblastoma; renal cell carcinoma; pancreatic cysts; renal cyst)

      CaseHPOFreeText: Aged 25Y at diagnosis (genetic testing); fulfils type 1 VHL clinical diagnosis. CNS angiomas diagnosed at 22, ccRCC at 22Y, renal cysts and pancreatic cysts at 22Y (See Table 1 & 2).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

      Ethnicity:Argentinian DiseaseEntity:VHL AgeOfPresentation:hemangioblastoma:22 AgeOfPresentation:clearcellrenalcellcarcinoma:22 AgeOfPresentation:renalcyst:22 AgeOfPresentation:pancreaticcysts:22 Mutation:Germline RefSeq:NM_000551.3 CivicName:R161*(c.481C>T) cDNAposition:481 ProteinPosition:161 AminoAcidChange:ARGtoTER MutationType:stop_gained ClinVarID:2217 ClinVarID:Yes NonFamilial DiseaseEntity:hemangioblastoma DiseaseEntity:clearcellrenalcellcarcinoma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    liebertpub.com/doi/10.1089/gtmb.2016.0204
  3. Oct 2026
  4. www.liebertpub.com www.liebertpub.com
    VHL Germline Mutations in Argentinian Patients with Clinical Diagnoses or Single Typical Manifestations of Type 1 von Hippel-Lindau Disease
    2
    1. ClingenBaseline 29 Oct 2026
      missense mutations (1/16)

      PatientID: 6

      KindredID: 6

      Case: 29Y0M, Sex Unknown, Argentinian

      DiseaseAssertion: VHL

      FamilyInfo: Positive family history

      CasePresentingHPOs: HP:0010797; HP:0009711; HP:0001737; HP:0000107 (hemangioblastoma; retinal capillary hemangioma; pancreatic cysts; renal cysts)

      CaseHPOFreeText: Aged 22Y at diagnosis (genetic testing); fulfils type 1 VHL clinical diagnosis. CNS and retinal hemangioblastoma was diagnosed at 22, pancreatic cysts and renal cysts were diagnosed at 29Y (See Table 1 & 2).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: absence of pheochromocytoma/paraganglioma (pheo/pgl) after 14 years of follow-up.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.C162W (c.486C>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223227 https://www.ncbi.nlm.nih.gov/clinvar/variation/223227/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: C162W (c.486C>G)

      MultipleGeneVariants: N/A

      Ethnicity:Argentinian DiseaseEntity:VHL Familial ClinVarID:Yes ClinVarID:223227 MutationType:missense_variant;transversion CivicName:C162W(c.486C>G) cDNAposition:486 ProteinPosition:162 AminoAcidChange:CYStoTRP DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:pancreaticcysts DiseaseEntity:renalcyst AgeOfPresentation:pancreaticcysts:29 AgeOfPresentation:renalcyst:29 AgeOfPresentation:hemangioblastoma:22 AgeOfPresentation:retinalcapillaryhemangioma:22 Mutation:Germline RefSeq:NM_000551.3 ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 28 Oct 2026
      frameshift mutations (4/16)

      PatientID: 7

      KindredID: 7

      Case: 23Y0M, Sex Unknown, Argentinian

      DiseaseAssertion: VHL

      FamilyInfo: Thus far, it has not been possible to study the parents or close relatives of this patient.

      CasePresentingHPOs: HP:0009711; HP:0000107 (retinal capillary hemangioma; renal cyst)

      CaseHPOFreeText: Aged 22Y at diagnosis (genetic testing); fulfils type 1 VHL clinical diagnosis. Bilateral retinal hemangioblastomas diagnosed at 22Y, and renal cysts were diagnosed at 23Y (See Table 1 & 2).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q132Hfs*45 (c.343_395dup)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA2497030272 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2497030272

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_2_frameshift_variant; duplication

      CivicName: Q132Hfs*45 (c.343_395dup)

      MultipleGeneVariants: N/A

      Ethnicity:Argentinian DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcyst AgeOfPresentation:renalcyst:23 AgeOfPresentation:retinalcapillaryhemangioma:22 Mutation:Germline RefSeq:NM_000551.3 AminoAcidChange:GLNtoHIS ProteinPosition:132 cDNAposition:343 MutationType:duplication MutationType:plus_2_frameshift_variant CivicName:Q132Hfs*45(c.343_395dup) CAID:CA2497030272 ClinVarID:N/A ExperimentalAssay NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    URL

    liebertpub.com/doi/10.1089/gtmb.2016.0204