10 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
    2
    1. ClingenBaseline 21 Oct 2026

      PatientID: 162

      KindredID: 62

      Case: F, 14Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: The patient's mother presented with a CNS hemangioblastoma at age 28, and a renal cell carcinoma, multiple pancreatic cysts/tumors, and a pheochromocytoma at age 41.

      CasePresentingHPOs: HP:0010797; HP:0001737; HP:0001732 (Hemangioblastoma, Pancreatic cysts, Abnormality of the pancreas)

      CaseHPOFreeText: The proband presented with a CNS hemangioblastoma and multiple pancreatic cysts/tumors at age 14.

      CaseNotHPOs: HP:0009711; HP:0005584; HP:0002666 (Retinal capillary hemangioma, Renal cell carcinoma, 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.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: missense_variant;transition

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

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticcysts DiseaseEntity:abnormalityofthepancreas AgeOfPresentation:hemangioblastoma:14 AgeOfPresentation:pancreaticcysts:14 AgeOfPresentation:abnormalityofthepancreas:14 AssumedRefSeq:NM_000551.3 cDNAposition:481 ProteinPosition:161 MutationType:missense_variant;transition SupplementalData ClinVarID:Yes ClinVarID:2217 PreviouslyPublished:29330336 AminoAcidChange:ARGtoTER CivicName:R161*(c.481C>T) Familial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026

      PatientID: 162

      KindredID: 62

      Case: F, 14Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: The patient's mother presented with a CNS hemangioblastoma at age 28, and a renal cell carcinoma, multiple pancreatic cysts/tumors, and a pheochromocytoma at age 41.

      CasePresentingHPOs: HP:0010797; HP:0001737; HP:0001732 (Hemangioblastoma, Pancreatic cysts, Abnormality of the pancreas)

      CaseHPOFreeText: The proband presented with a CNS hemangioblastoma and multiple pancreatic cysts/tumors at age 14.

      CaseNotHPOs: HP:0009711; HP:0005584; HP:0002666 (Retinal capillary hemangioma, Renal cell carcinoma, 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.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: missense_variant;transition

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

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticcysts DiseaseEntity:abnormalityofthepancreas AgeOfPresentation:hemangioblastoma:14 AgeOfPresentation:pancreaticcysts:14 AgeOfPresentation:abnormalityofthepancreas:14 AssumedRefSeq:NM_000551.3 cDNAposition:481 ProteinPosition:161 MutationType:missense_variant;transition SupplementalData ClinVarID:Yes ClinVarID:2217 PreviouslyPublished:29330336 AminoAcidChange:ARGtoTER CivicName:R161*(c.481C>T) Familial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5503545/
  3. academic-oup-com.proxy1.lib.uwo.ca academic-oup-com.proxy1.lib.uwo.ca
    Natural History of Supratentorial Hemangioblastomas in von Hippel-Lindau Disease
    2
    1. ClingenBaseline 21 Oct 2026

      PatientID: 8

      KindredID: 8

      Case: M,35Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: Thirteen patients with a supratentorial hemangioblastoma.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: The patient had a meckel cave hemangioblastoma at age 28. The patient had a papillary edema and pituitary stalk hemangioblastoma at age 34. The patient died of VHL disease.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

      LegacyVariant: 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

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline NoFamilyInfo DiseaseEntity:hemangioblastoma AgeOfPresentation:hemangioblastoma:28 AgeOfPresentation:hemangioblastoma:34 CivicName:R161*(c.481C>T) cDNAposition:481 ProteinPosition:161 ClinVarID:2217 ClinVarID:Yes MutationType:stop_gained AssumedRefSeq:NM_000551.3 AminoAcidChange:ARGtoTER inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026

      PatientID: 8

      KindredID: 8

      Case: M,35Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: Thirteen patients with a supratentorial hemangioblastoma.

      CasePresentingHPOs: HP:0010797 (hemangioblastoma)

      CaseHPOFreeText: The patient had a meckel cave hemangioblastoma at age 28. The patient had a papillary edema and pituitary stalk hemangioblastoma at age 34. The patient died of VHL disease.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

      LegacyVariant: 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

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline NoFamilyInfo DiseaseEntity:hemangioblastoma AgeOfPresentation:hemangioblastoma:28 AgeOfPresentation:hemangioblastoma:34 CivicName:R161*(c.481C>T) cDNAposition:481 ProteinPosition:161 ClinVarID:2217 ClinVarID:Yes MutationType:stop_gained AssumedRefSeq:NM_000551.3 AminoAcidChange:ARGtoTER inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    academic-oup-com.proxy1.lib.uwo.ca/neurosurgery/article/67/3/577/2556950
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Anorexia as the first clinical manifestation of von Hippel-Lindau syndrome
    2
    1. ClingenBaseline 21 Oct 2026
      Case reportA 19-year-old woman was referred to our psychiatric inpatient service in June 2017, with the suspicion of AN. At the time of hospital admission, the patient's weight was 28 kg, her height was 1.55 m and her body mass index (BMI) was 11.6 kg/m2. The patient had had no menstrual cycle for at least 1 year. Over the previous 2 years, her food intake had progressively diminished, without an immediately apparent cause. The patient was hungry but felt satiated after ingesting only a small amount of food, and had difficulty swallowing.

      PatientID: N/A (case)

      KindredID: 1

      Case: F, 19Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Non-consanguineous parental relationship; second child; no mention of VHL in the family.

      CasePresentingHPOs: HP:0010797; HP:0001713; HP:0002039; HP:0001824 (Hemangioblastoma; pancreatic cysts; anorexia; weight loss)

      CaseHPOFreeText: Healthy from birth, this patient was referred to a psychiatric inpatient at 19Y with the weight loss and weakness, and the suspicion on anorexia nervosa. AN was not met according to the DSM-5 or ICD-10 (despite anorexic tendencies). There were also no tendencies towards an eating disorder. Patient developed progressive gait abnormality, along with bilateral dysmetria. MRI revealed a massive lesion with vascular characteristics suggestive of a HB in the fourth ventricle causing hypertensive hydrocephalus. Abdominal CT scan revealed cystic lesions throughout the parenchymatous portion of the pancreas, suspected to be related to VHLs. Together, supported the diagnosis of VHL. The patient underwent surgery of the brain, and radiotherapy which proved to work in small degrees.

      CaseNotHPOs: HP:0002666 (pheochromocytoma)

      CaseNotHPOFreeText: All blood tests, urinalysis and chest X‑ray were unremarkable. She also had no pheochromocytoma.

      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

      InheritancePattern:AutosomalDominant Mutation:Germline DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticcysts DiseaseEntity:anorexia AgeOfPresentation:hemangioblastoma:19 AgeOfPresentation:pancreaticcysts:19 AssumedRefSeq:NM_000551.3 cDNAposition:481 CivicName:R161*(c.481C>T) AminoAcidChange:ARGtoTER MutationType:stop_gained ProteinPosition:161 ClinVarID:2217 ClinVarID:Yes NonFamilial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      Case reportA 19-year-old woman was referred to our psychiatric inpatient service in June 2017, with the suspicion of AN. At the time of hospital admission, the patient's weight was 28 kg, her height was 1.55 m and her body mass index (BMI) was 11.6 kg/m2. The patient had had no menstrual cycle for at least 1 year. Over the previous 2 years, her food intake had progressively diminished, without an immediately apparent cause. The patient was hungry but felt satiated after ingesting only a small amount of food, and had difficulty swallowing.

      PatientID: N/A (case)

      KindredID: 1

      Case: F, 19Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Non-consanguineous parental relationship; second child; no mention of VHL in the family.

      CasePresentingHPOs: HP:0010797; HP:0001713; HP:0002039; HP:0001824 (Hemangioblastoma; pancreatic cysts; anorexia; weight loss)

      CaseHPOFreeText: Healthy from birth, this patient was referred to a psychiatric inpatient at 19Y with the weight loss and weakness, and the suspicion on anorexia nervosa. AN was not met according to the DSM-5 or ICD-10 (despite anorexic tendencies). There were also no tendencies towards an eating disorder. Patient developed progressive gait abnormality, along with bilateral dysmetria. MRI revealed a massive lesion with vascular characteristics suggestive of a HB in the fourth ventricle causing hypertensive hydrocephalus. Abdominal CT scan revealed cystic lesions throughout the parenchymatous portion of the pancreas, suspected to be related to VHLs. Together, supported the diagnosis of VHL. The patient underwent surgery of the brain, and radiotherapy which proved to work in small degrees.

      CaseNotHPOs: HP:0002666 (pheochromocytoma)

      CaseNotHPOFreeText: All blood tests, urinalysis and chest X‑ray were unremarkable. She also had no pheochromocytoma.

      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

      InheritancePattern:AutosomalDominant Mutation:Germline DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticcysts DiseaseEntity:anorexia AgeOfPresentation:hemangioblastoma:19 AgeOfPresentation:pancreaticcysts:19 AssumedRefSeq:NM_000551.3 cDNAposition:481 CivicName:R161*(c.481C>T) AminoAcidChange:ARGtoTER MutationType:stop_gained ProteinPosition:161 ClinVarID:2217 ClinVarID:Yes NonFamilial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC7506219/
  5. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    New Insights Into Pheochromocytoma Surveillance of Young Patients With VHL Missense Mutations
    2
    1. ClingenBaseline 21 Oct 2026
      312232N—N—YYYYNc.481 C>T

      PatientID: 31

      KindredID: 22

      Case: Sex Unknown, 32Y0M, Brazilian (Latino/Admixed American)

      DiseaseAssertion: VHL

      FamilyInfo: stated as a familial VHL. 1 other family member (patient 30) with that same mutation was stated with an age of 56. This patient has RCC, renal cysts, pancreatic cysts, and CNS hemangioblastoma and retinal capillary hemangioblastomas.

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

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0002668, HP:0002666; HP:0009711; HP:0030405; (Paraganglioma, pheochromocytoma, retinal capillary hemangioma, pancreatic endocrine tumor)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

      LegacyVariant: 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

      DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:renalcyst DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticcysts Familial ProteinPosition:161 CivicName:R161*(c.481C>T) cDNAposition:481 AminoAcidChange:ARGtoTER ClinVarID:2217 ClinVarID:Yes Mutation:Germline AssumedRefSeq:NM_000551.3 InheritancePattern:AutosomalDominant MutationType:stop_gained Ethnicity:Brazilian Ethnicity:Latino/AdmixedAmerican inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      312232N—N—YYYYNc.481 C>T

      PatientID: 31

      KindredID: 22

      Case: Sex Unknown, 32Y0M, Brazilian (Latino/Admixed American)

      DiseaseAssertion: VHL

      FamilyInfo: stated as a familial VHL. 1 other family member (patient 30) with that same mutation was stated with an age of 56. This patient has RCC, renal cysts, pancreatic cysts, and CNS hemangioblastoma and retinal capillary hemangioblastomas.

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

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0002668, HP:0002666; HP:0009711; HP:0030405; (Paraganglioma, pheochromocytoma, retinal capillary hemangioma, pancreatic endocrine tumor)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

      LegacyVariant: 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

      DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:renalcyst DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticcysts Familial ProteinPosition:161 CivicName:R161*(c.481C>T) cDNAposition:481 AminoAcidChange:ARGtoTER ClinVarID:2217 ClinVarID:Yes Mutation:Germline AssumedRefSeq:NM_000551.3 InheritancePattern:AutosomalDominant MutationType:stop_gained Ethnicity:Brazilian Ethnicity:Latino/AdmixedAmerican inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6735756/
  6. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Characterization of endolymphatic sac tumors and von Hippel–Lindau disease in the International Endolymphatic Sac Tumor Registry
    2
    1. ClingenBaseline 21 Oct 2026
      3 France c.481C>T p.Arg161* Argentina

      GroupID: 24

      DiseaseAssertion: VHL

      GroupSize: 3

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: Three registrants from either France or Argentina have the same mutation of c.481C>T.

      GroupPresentingHPOs: HP:0030393 (Endolymphatic sac tumor)

      GroupHPOFreeText: N/A

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

      LegacyVariant: 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

      DiseaseEntity:VHL DiseaseEntity:endolymphaticsactumor Mutation:Germline RefSeq:NM_000551.3 ProteinPosition:161 cDNAposition:481 AminoAcidChange:ARGtoTER MutationType:stop_gained CivicName:R161*(c.481C>T) CAID:CA020399 ClinVarID:2217 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      3 France c.481C>T p.Arg161* Argentina

      GroupID: 24

      DiseaseAssertion: VHL

      GroupSize: 3

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: Three registrants from either France or Argentina have the same mutation of c.481C>T.

      GroupPresentingHPOs: HP:0030393 (Endolymphatic sac tumor)

      GroupHPOFreeText: N/A

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

      LegacyVariant: 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

      DiseaseEntity:VHL DiseaseEntity:endolymphaticsactumor Mutation:Germline RefSeq:NM_000551.3 ProteinPosition:161 cDNAposition:481 AminoAcidChange:ARGtoTER MutationType:stop_gained CivicName:R161*(c.481C>T) CAID:CA020399 ClinVarID:2217 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/full/10.1002/hed.24067