8 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    In Silico Analysis Identification of a Novel Germ-Line VHL Mutation in a Patient of Malignant Pheochromocytoma
    2
    1. ClingenBaseline 21 Oct 2026
      This mutation was inherited from the paternal allele

      PatientID: None (father)

      KindredID: 1

      Case: M, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Asymptomatic

      FamilyInfo: No significant family history.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V194G (c.581T>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 428810, https://www.ncbi.nlm.nih.gov/clinvar/variation/428810/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: In silico analysis was performed using the PolyPhen-2 program and SIFT analysis. In the PolyPhen-2 analysis, the prediction score was 1.000, which indicated “probably damaging.” In addition, SIFT analysis of V194G indicated a SIFT score of 0, which indicates a seriously damaging mutation.

      MutationType: missense_variant;transversion

      CivicName: V194G (c.581T>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:581 ProteinPosition:194 AminoAcidChange:VALtoGLY ClinVarID:428810 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:V194G(c.581T>G) Familial DiseaseEntity:Asymptomatic inferred_gene_hgnc:9069 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      This mutation was inherited from the paternal allele

      PatientID: None (father)

      KindredID: 1

      Case: M, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Asymptomatic

      FamilyInfo: No significant family history.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V194G (c.581T>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 428810, https://www.ncbi.nlm.nih.gov/clinvar/variation/428810/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: In silico analysis was performed using the PolyPhen-2 program and SIFT analysis. In the PolyPhen-2 analysis, the prediction score was 1.000, which indicated “probably damaging.” In addition, SIFT analysis of V194G indicated a SIFT score of 0, which indicates a seriously damaging mutation.

      MutationType: missense_variant;transversion

      CivicName: V194G (c.581T>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:581 ProteinPosition:194 AminoAcidChange:VALtoGLY ClinVarID:428810 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:V194G(c.581T>G) Familial DiseaseEntity:Asymptomatic inferred_gene_hgnc:9069 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/24518179/
  3. academic-oup-com.proxy1.lib.uwo.ca academic-oup-com.proxy1.lib.uwo.ca
    Hemangioblastomas and Neurogenic Polyglobulia
    2
    1. ClingenBaseline 21 Oct 2026

      PatientID: 10

      KindredID: 10

      Case: M, 26Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0009713 (spinal hemangioblastoma)

      CaseHPOFreeText: The patient had a spinal hemangioblastoma at the C4/C5 boundary. The patient showed an high-normal Hb values (18.6) which fits the polyglobulia disease criteria. After the spinal hemangioblastoma was removed, the Hb normalized.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S65W(c.194C>G)

      LegacyVariant: p.S65W(c.407C>G)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 43597 https://www.ncbi.nlm.nih.gov/clinvar/variation/43597/

      CAID: CA020099 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.194C%3EG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName:S65W(c.194C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:spinalhemangioblastoma AgeOfPresentation:spinalhemangioblastoma:26 DiseaseEntity:VHL Mutation:Germline MutationType:missense_variant;transversion CivicName:S65W(c.194C>G) cDNAposition:194 ProteinPosition:65 AminoAcidChange:SERtoTRP AssumedRefSeq:AF010238.1 CAID:CA020099 ClinVarID:43597 NoFamilyInfo ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026

      PatientID: 10

      KindredID: 10

      Case: M, 26Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0009713 (spinal hemangioblastoma)

      CaseHPOFreeText: The patient had a spinal hemangioblastoma at the C4/C5 boundary. The patient showed an high-normal Hb values (18.6) which fits the polyglobulia disease criteria. After the spinal hemangioblastoma was removed, the Hb normalized.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S65W(c.194C>G)

      LegacyVariant: p.S65W(c.407C>G)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 43597 https://www.ncbi.nlm.nih.gov/clinvar/variation/43597/

      CAID: CA020099 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.194C%3EG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName:S65W(c.194C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:spinalhemangioblastoma AgeOfPresentation:spinalhemangioblastoma:26 DiseaseEntity:VHL Mutation:Germline MutationType:missense_variant;transversion CivicName:S65W(c.194C>G) cDNAposition:194 ProteinPosition:65 AminoAcidChange:SERtoTRP AssumedRefSeq:AF010238.1 CAID:CA020099 ClinVarID:43597 NoFamilyInfo ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    academic-oup-com.proxy1.lib.uwo.ca/neurosurgery/article/72/6/930/2417731
  4. www.termedia.pl www.termedia.pl
    Endolymphatic sac tumours and von Hippel-Lindau disease – case report, molecular analysis and histopathological characterization
    2
    1. ClingenBaseline 21 Oct 2026
      A 32-year old man was invited to our centre for a consultation at the Polish VHL Registry as a member of a family with suspected von Hippel-Lindau disease (VHL). He had a history of left facial nerve palsy at the age of 19 years due to tumour of the temporal bone. The patient was operated on a few months later and a histopathological diagnosis of choroid plexus papilloma was made. Two years later he was reoperated on due to recurrence and treated with adjunctive radiotherapy. Three years later the patient developed ataxia and was treated surgically because of a cerebellar tumour that was histopathologically diagnosed as haemangioblastoma. Due to recurrence of this tumour the patient was reoperated on two years later. He also had a history of retinal capillary angioma treated by cryo- and laser therapy.

      PatientID: None

      KindredID: 1

      Case: M, 32Y0M, Ethnicity Unknown

      DiseaseAssertion: Assumed VHL

      FamilyInfo: Many of the patient’s family members developed lesions in sites suggesting VHL including multiple central nervous system tumours (probable hemangioblastomas), renal tumours (probable renal cell carcinomas), pancreatic tumours (probable cysts and neuroendocrine tumours), temporal bone tumours (probable ELST), and some of the family members have lost their sight because of retinal detachment (probably in the case of retinal haemangiomas). However, the diagnosis of VHL has not been established in the family. Two of his children were also found to have the NM_000551.3:c.194C>T(S65L) mutation after analysis of blood samples.

      CasePresentingHPOs: HP:0030393; HP:0010797; HP:0009711 (Endolymphatic sac tumour, hemangioblastoma, retinal capillary hemangioma)

      CaseHPOFreeText: The patient had a history of left facial nerve palsy at the age of 19 years due to tumour of the temporal bone with a recurrence two years later (at 21Y). The patient was originally histopathologically diagnosed with choroid plexus papilloma, but was re-diagnosed with an endolymphatic sac tumour on reexamination of the sample. Three years later (24Y) the patient developed ataxia because of a cerebellar tumour that was histopathologically diagnosed as hemangioblastoma. He had a recurrence two years later (26Y). He also had a history of retinal capillary angioma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S65L (c.194C>T)

      LegacyVariant: p.S65L (c.407C>T)

      ClinVarID: 182975, https://www.ncbi.nlm.nih.gov/clinvar/variation/182975/

      gnomAD: 0.000, https://gnomad.broadinstitute.org/variant/3-10183725-C-T

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: S65L(c.194C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:endolymphaticsac DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:endolympahaticsac:19 AgeOfPresentation:endolympahaticsac:21 AgeOfPresentation:hemangioblastoma:24 AgeOfPresentation:hemangioblastoma:26 Mutation:Germline AssumedRefSeq:AF010238.1 ClinVarID:Yes ClinVarID:182983 cDNAposition:194 ProteinPosition:65 AminoAcidChange:SERtoLEU MutationType:missense_variant;transition Familial CivicName:S65L(c.194C>T) inferred_gene_hgnc:1076 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      A 32-year old man was invited to our centre for a consultation at the Polish VHL Registry as a member of a family with suspected von Hippel-Lindau disease (VHL). He had a history of left facial nerve palsy at the age of 19 years due to tumour of the temporal bone. The patient was operated on a few months later and a histopathological diagnosis of choroid plexus papilloma was made. Two years later he was reoperated on due to recurrence and treated with adjunctive radiotherapy. Three years later the patient developed ataxia and was treated surgically because of a cerebellar tumour that was histopathologically diagnosed as haemangioblastoma. Due to recurrence of this tumour the patient was reoperated on two years later. He also had a history of retinal capillary angioma treated by cryo- and laser therapy.

      PatientID: None

      KindredID: 1

      Case: M, 32Y0M, Ethnicity Unknown

      DiseaseAssertion: Assumed VHL

      FamilyInfo: Many of the patient’s family members developed lesions in sites suggesting VHL including multiple central nervous system tumours (probable hemangioblastomas), renal tumours (probable renal cell carcinomas), pancreatic tumours (probable cysts and neuroendocrine tumours), temporal bone tumours (probable ELST), and some of the family members have lost their sight because of retinal detachment (probably in the case of retinal haemangiomas). However, the diagnosis of VHL has not been established in the family. Two of his children were also found to have the NM_000551.3:c.194C>T(S65L) mutation after analysis of blood samples.

      CasePresentingHPOs: HP:0030393; HP:0010797; HP:0009711 (Endolymphatic sac tumour, hemangioblastoma, retinal capillary hemangioma)

      CaseHPOFreeText: The patient had a history of left facial nerve palsy at the age of 19 years due to tumour of the temporal bone with a recurrence two years later (at 21Y). The patient was originally histopathologically diagnosed with choroid plexus papilloma, but was re-diagnosed with an endolymphatic sac tumour on reexamination of the sample. Three years later (24Y) the patient developed ataxia because of a cerebellar tumour that was histopathologically diagnosed as hemangioblastoma. He had a recurrence two years later (26Y). He also had a history of retinal capillary angioma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S65L (c.194C>T)

      LegacyVariant: p.S65L (c.407C>T)

      ClinVarID: 182975, https://www.ncbi.nlm.nih.gov/clinvar/variation/182975/

      gnomAD: 0.000, https://gnomad.broadinstitute.org/variant/3-10183725-C-T

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: S65L(c.194C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:endolymphaticsac DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:endolympahaticsac:19 AgeOfPresentation:endolympahaticsac:21 AgeOfPresentation:hemangioblastoma:24 AgeOfPresentation:hemangioblastoma:26 Mutation:Germline AssumedRefSeq:AF010238.1 ClinVarID:Yes ClinVarID:182983 cDNAposition:194 ProteinPosition:65 AminoAcidChange:SERtoLEU MutationType:missense_variant;transition Familial CivicName:S65L(c.194C>T) inferred_gene_hgnc:1076 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    termedia.pl/Endolymphatic-sac-tumours-and-von-Hippel-Lindau-disease-8211-case-report-molecular-analysis-and-histopathological-characterization,20,12098,1,1.html
  5. journals.lww.com journals.lww.com
    PARS PLANA VITRECTOMY IN ADVANCED CASES OF VON... : RETINA
    2
    1. ClingenBaseline 21 Oct 2026
      detected point germline vhl mutations in 14 patients

      PatientID: 17

      KindredID: 17

      Case: 20Y0M, sex unknown, ethnicity unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

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

      CaseHPOFreeText: See Table 1&2 for retinal capillary hemangioma information

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S65L (c.194C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 182975 https://www.ncbi.nlm.nih.gov/clinvar/variation/182975/

      CAID: N/A

      gnomAD: https://gnomad.broadinstitute.org/variant/3-10183725-C-T

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: S65L (c.194C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 ClinVarID:182975 ClinVarID:Yes CivicName:S65L(c.194C>T) cDNAposition:194 ProteinPosition:65 MutationType:missense_variant;transition AminoAcidChange:SERtoLEU DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:VHL inferred_gene_hgnc:1076 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      detected point germline vhl mutations in 14 patients

      PatientID: 17

      KindredID: 17

      Case: 20Y0M, sex unknown, ethnicity unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

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

      CaseHPOFreeText: See Table 1&2 for retinal capillary hemangioma information

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S65L (c.194C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 182975 https://www.ncbi.nlm.nih.gov/clinvar/variation/182975/

      CAID: N/A

      gnomAD: https://gnomad.broadinstitute.org/variant/3-10183725-C-T

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: S65L (c.194C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 ClinVarID:182975 ClinVarID:Yes CivicName:S65L(c.194C>T) cDNAposition:194 ProteinPosition:65 MutationType:missense_variant;transition AminoAcidChange:SERtoLEU DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:VHL inferred_gene_hgnc:1076 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    journals.lww.com/retinajournal/fulltext/2016/02000/pars_plana_vitrectomy_in_advanced_cases_of_von.13.aspx