5 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genotype-phenotype correlations in Chinese von Hippel–Lindau disease patients
    1
    1. ClingenBaseline 04 Nov 2026

      PatientID: 107

      KindredID: 36

      Case: M, 18Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: The proband's mother presented with a CNS hemangioblastoma and retinal angioma at age 29, but passed away before the mutation could be confirmed.

      CasePresentingHPOs: HP:0010797; HP:0009711 (Hemangioblastoma, Retinal capillary hemangioma)

      CaseHPOFreeText: The proband presented with a CNS hemangioblastoma and retinal angioma at age 18.

      CaseNotHPOs: HP:0005584; HP:0001737; HP:0001732; HP:0002666 (Renal cell carcinoma, Pancreatic cysts, Abnormality of the pancreas, Pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: This cohort was also published in a later paper by Wang et al., 2018 (PMID: 29330336).

      SupplementalData: Patient and family genotype-phenotype information is listed in Supplementary Table 1.

      Variant: p.H110Pfs*49 (c.329delA)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 560741, https://www.ncbi.nlm.nih.gov/clinvar/variation/560741/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: H110PFS*49 (c.329delA)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:hemangioblastoma:18 AgeOfPresentation:retinalcapillaryhemangioma:18 MutationType:minus_1_frameshift_variant ClinVarID:560741 ClinVarID:Yes cDNAposition:329 ProteinPosition:110 AminoAcidChange:HIStoPRO CivicName:H110PFS*49(c.329delA) SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5503545/
  3. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genotype–phenotype correlations in von Hippel-Lindau disease
    1
    1. ClingenBaseline 03 Nov 2026

      GroupID: 70

      DiseaseAssertion: assumed VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: 2 of the 573 patients discussed in this paper were found to have identical variants. This mutation (c.395A>C) was found in 1 VHL family with 2 patients.

      GroupPresentingHPOs: HP:0009711; HP:0006880; HP:0005584 (retinal capillary hemangioma; cerebellar hemangioblastoma; renal cell carcinoma)

      GroupHPOFreeText: 1/2 patient had cerebellar hemangioblastoma (CHB) at 18Y, 1/2 had retinal capillary hemangioma (RH) at 37Y, and 1/2 had RCC at 49Y. Unclear as to which of the two patients these HPOs are paired to.

      GroupNotHPOs: HP:0002666 (pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table S1.

      Variant: p.Q132P (c.395A>C)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 496063 https://www.ncbi.nlm.nih.gov/clinvar/variation/496063/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: Q132P (c.395A>C)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL Familial FamilyCohort DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:renalcellcarcinoma AgeOfPresentation:cerebellarhemangioblastoma:18 AgeOfPresentation:retinalcapillaryhemangioma:37 AgeOfPresentation:renalcellcarcinoma:49 Mutation:Germline ExperimentalAssay InheritancePattern:AutosomalDominant ClinVarID:Yes ClinVarID:496063 RefSeq:NM_000551.2 SupplementalData MutationType:missense_variant;transversion cDNAposition:395 ProteinPosition:132 AminoAcidChange:GLNtoPRO CivicName:Q132P(c.395A>C) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/abs/10.1002/humu.20385
  4. Oct 2026
  5. jamanetwork.com jamanetwork.com
    Molecular Characterization and Ophthalmic Investigation of a Large Family With Type 2A von Hippel–Lindau Disease
    1
    1. ClingenBaseline 29 Oct 2026
      Twelve (75%) of 16 gene carriers were found to have ocular hemangioblastomas(Figure 1 and Figure 2), and 7 of these had bilateral disease (Table 1). The mean number of angiomas was 3.3. However, 1 individual had 22 angiomas, most of which were in an area of previous exudative retinal detachment (see the "Comment" section) (Table 2). Exclusion of this individual resulted in a mean number of angiomas of 2.1. Six eyes had optic disc angiomas (Figure 2). Six of the 19 eyes with ocular hemangioblastomas had visual acuity less than 20/40. Two patients had no light perception in one or both eyes. The average age at diagnosis of ocular angiomatosis was 37 years.

      PatientID: 6

      KindredID: 1

      Case: Sex Unknown, 60Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Significant family history. Pedigree follows 8 generations (see Figure 3). Family immigrated to Iowa, US, from Baden-Baden, Germany, in 1832; Likely sharing a common ancestor to the traced lineage of the Black Forest region of Germany.

      CasePresentingHPOs: HP:0002666; HP:0009711 (pheochromocytoma; retinal capillary hemangioma)

      CaseHPOFreeText: 49Y at first pheochromocytoma and ocular angioma (retinal capillary hemangioma). Total of 3 ocular angiomas and 1 pheochromocytoma.

      CaseNotHPOs: HP:0010797; HP:0005584 (hemangioblastoma, renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y98H (c.292T>C)

      LegacyVariant: p.Y98H (c.505T>C)

      CaseProblemVariantFreeText: N/A

      ClinVar: 2223 https://www.ncbi.nlm.nih.gov/clinvar/variation/2223/

      CAID: N/A

      gnomAD: 0.00001343 https://gnomad.broadinstitute.org/variant/3-10183823-T-C

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: Y98H (c.292T>C)

      MultipleGeneVariants: N/A

      DiseaseEntity:pheochromocytoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:VHL InheritancePattern:AutosomalDominant AssumedRefSeq:AF010238.1 Mutation:Germline AgeOfPresentation:pheochromocytoma:49 AgeOfPresentation:retinalcapillaryhemangioma:49 CivicName:Y98H(c.292T>C) cDNAposition:292 ProteinPosition:98 AminoAcidChange:TYRtoHIS MutationType:missense_variant;transition ClinVarID:2223 ClinVarID:Yes Familial FamilyPedigree inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    jamanetwork.com/journals/jamaophthalmology/fullarticle/268695
  6. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A case of carotid body paraganglioma and haemangioblastoma of the spinal cord in a patient with the N131K missense mutation in the VHL gene
    1
    1. ClingenBaseline 27 Oct 2026
      Case reportThe female patient, aged 49, reported pains in her second and third finger of the right hand that she had had for 2 years. Initial diagnosis revealed isthmus carpalis and the patient was operated on without much success—no improvement was noticed.A year later, intensifying root pains of Root C5 and C6 on the right side were the reason for performing an MRI scan of the cervical spine. The findings from the study showed an intramedullary lesion of 1.5 cm in diameter, localized at the height of C5–C6 with accompanying syrinx stretching from C3 to C7. The patient was consulted neurosurgically several times, but refused to submit to a surgical treatment. Gradually, the pains extended to the entire forearm of the upper right limb, and numbness appeared of both lower limbs. She met the clinical diagnostic criteria for VHL disease [11]. Sequencing of the VHL gene revealed the presence of the 393C>A (N131K) missense mutation (Fig. 1) [12]. VHL disease was also diagnosed in her relatives (shown in Fig. 2).

      PatientID: III:2 (case)

      KindredID: 1

      Case: F, 49Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: VHL disease was diagnosed in her relatives - although no genetic testing was directly performed on them prior to death. 2/3 of her siblings and her father were affected. Her father had retinal hemangioblastoma at 30Y, CNS hemangioblastoma at 40Y and died at 41Y. Her older brother had kidney cancer and died at 48Y, and her sister had retinal hemangioblastoma at 13Y and CNS hemangioblastoma at 29Y. The case’s daughter tested negative and their other living sister.

      CasePresentingHPOs: HP:0009711; HP:0000107; HP:0009713; HP:0002668 (retinal capillary hemangioblastoma; renal cysts; spine hemangioblastoma; paraganglioma)

      CaseHPOFreeText: patient at retinal hemangioblastoma at 22Y. At 47Y she reported pains in her second and third finger of the right hand. She developed large carotid body paraganglioma at the common carotid artery bifurcation, (49Y) coexisting with a hemangioblastoma situated intramedullary in region C5/C6 (the right-sided dorsal part of the spinal cord) at 47Y). 1 year after the hemangioblastoma resection, the spinal symptoms receded and the carotid body paraganglioma still was asymptomatic. Motor issues and Babinski syndrome were also observed.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.N131K (c.393C>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 420074 https://www.ncbi.nlm.nih.gov/clinvar/variation/420074/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: N131K (c.393C>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:paraganglioma DiseaseEntity:spinalhemangioblastoma DiseaseEntity:renalcyst AgeOfPresentation:retinalcapillaryhemangioma:22 AgeOfPresentation:paraganglioma:49 AgeOfPresentation:spinalhemangioblastoma:47 ClinVarID:420074 ClinVarID:Yes cDNAposition:393 ProteinPosition:131 AminoAcidChange:ASNtoLYS MutationType:missense_variant;transversion CivicName:N131K(c.393C>A) Familial FamilyPedigree inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC3092932/
  7. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genotype-phenotype correlations in Chinese von Hippel–Lindau disease patients
    1
    1. ClingenBaseline 25 Oct 2026

      PatientID: 272

      KindredID: 106

      Case: F, 51Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: The proband, patient 272, has a daughter and a father who both passed away before diagnosis/ before they could undergo genetic testing. The proband's daughter (patient 273) had a CNS hemangioblastoma at age 13, and the proband's father (patient 274) had a CNS hemangioblastoma at age 30.

      CasePresentingHPOs: HP:0001737; HP:0001732; HP:0010797 HP:0009711; HP:0005584 (Pancreatic cysts, Abnormality of the pancreas, Hemangioblastoma, Retinal capillary hemangioma, Renal cell carcinoma)

      CaseHPOFreeText: The proband presented with a retinal angioma at 49, and at 51 presented with a CNS hemangioblastoma, renal cell carcinoma, and multiple pancreatic cysts/tumors.

      CaseNotHPOs: HP:0002666 (Pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: This cohort was also published in a later paper by Wang et al., 2018 (PMID: 29330336).

      SupplementalData: Patient and family genotype-phenotype information is listed in Supplementary Table 1.

      Variant: Exon 2 Deletion (c.341-?_463+?del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: exon_loss_variant

      CivicName: Exon 2 Deletion

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma DiseaseEntity:abnormalityofthepancreas DiseaseEntity:pancreaticcysts AgeOfPresentation:hemangioblastoma:51 AgeOfPresentation:retinalcapillaryhemangioma:49 AgeOfPresentation:renalcellcarcinoma:51 AgeOfPresentation:pancreaticcysts:51 AgeOfPresentation:abnormalityofthepancreas:51 MutationType:exon_loss_variant UnregisteredVariant CivicName:Exon2Deletion Familial SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5503545/