10 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel–Lindau (VHL) disease
    4
    1. ClingenBaseline 21 Oct 2026

      PatientID: 9

      KindredID: 9

      Case: F, 16Y0M, Korean

      DiseaseAssertion: VHL

      FamilyInfo: No family history of VHL.

      CohortInfo: 26 Korean patients with more than one HAB in the CNS or eye, a single HAB in the CNS or retina plus a visceral manifestation (multiple renal, pancreatic or hepatic cysts, pheochromocytoma and RCC) and positive family history plus any one of the above manifestations.

      CasePresentingHPOs: HP:0009711 (Retinal capillary hemangioma)

      CaseHPOFreeText: Diagnosed with VHL Type 1.

      CaseNotHPOs: HP:0002666; HP:0005584; HP:0010797 (Pheochromocytoma, Renal cell carcinoma, Hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.E70K (c.208G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 43598, https://www.ncbi.nlm.nih.gov/clinvar/variation/43598/

      CAID: N/A

      gnomAD: 0.000004365, https://gnomad.broadinstitute.org/variant/3-10183739-G-A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: E70K (c.208G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:DeNovoAssertion Ethnicity:Korean DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:208 ProteinPosition:70 AminoAcidChange:GLUtoLYS ClinVarID:43598 ClinVarID:Yes MutationType:missense_variant;transition CivicName:E70K(c.208G>A) NonFamilial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026

      PatientID: 12

      KindredID: 12

      Case: F, 41Y0M, Korean

      DiseaseAssertion: VHL

      FamilyInfo: Daughter has the same mutation and presented with CNS hemangioblastoma.

      CohortInfo: 26 Korean patients with more than one HAB in the CNS or eye, a single HAB in the CNS or retina plus a visceral manifestation (multiple renal, pancreatic or hepatic cysts, pheochromocytoma and RCC) and positive family history plus any one of the above manifestations.

      CasePresentingHPOs: HP:0005584 (Renal cell carcinoma)

      CaseHPOFreeText: Other phenotypes presented but not specified (one or more of: pancreatic cyst or tumor, renal or hepatic cyst). Diagnosed with VHL Type 1.

      CaseNotHPOs: HP:0002666; HP:0009711; HP:0010797 (Pheochromocytoma, Retinal capillary hemangioma, Hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: https://doi.org/10.3803/jkes.2006.21.3.239

      SupplementalData: N/A

      Variant: p.Q73* (c.217C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223164, https://www.ncbi.nlm.nih.gov/clinvar/variation/223164/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition; stop_gained

      CivicName: Q73* (c.217C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Korean DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:217 ProteinPosition:73 AminoAcidChange:GLNtoTER ClinVarID:223164 ClinVarID:Yes MutationType:missense_variant;transition MutationType:stop_gained CivicName:Q73*(c.217C>T) Familial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    3. ClingenBaseline 21 Oct 2026

      PatientID: 9

      KindredID: 9

      Case: F, 16Y0M, Korean

      DiseaseAssertion: VHL

      FamilyInfo: No family history of VHL.

      CohortInfo: 26 Korean patients with more than one HAB in the CNS or eye, a single HAB in the CNS or retina plus a visceral manifestation (multiple renal, pancreatic or hepatic cysts, pheochromocytoma and RCC) and positive family history plus any one of the above manifestations.

      CasePresentingHPOs: HP:0009711 (Retinal capillary hemangioma)

      CaseHPOFreeText: Diagnosed with VHL Type 1.

      CaseNotHPOs: HP:0002666; HP:0005584; HP:0010797 (Pheochromocytoma, Renal cell carcinoma, Hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.E70K (c.208G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 43598, https://www.ncbi.nlm.nih.gov/clinvar/variation/43598/

      CAID: N/A

      gnomAD: 0.000004365, https://gnomad.broadinstitute.org/variant/3-10183739-G-A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: E70K (c.208G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:DeNovoAssertion Ethnicity:Korean DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:208 ProteinPosition:70 AminoAcidChange:GLUtoLYS ClinVarID:43598 ClinVarID:Yes MutationType:missense_variant;transition CivicName:E70K(c.208G>A) NonFamilial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    4. ClingenBaseline 21 Oct 2026

      PatientID: 12

      KindredID: 12

      Case: F, 41Y0M, Korean

      DiseaseAssertion: VHL

      FamilyInfo: Daughter has the same mutation and presented with CNS hemangioblastoma.

      CohortInfo: 26 Korean patients with more than one HAB in the CNS or eye, a single HAB in the CNS or retina plus a visceral manifestation (multiple renal, pancreatic or hepatic cysts, pheochromocytoma and RCC) and positive family history plus any one of the above manifestations.

      CasePresentingHPOs: HP:0005584 (Renal cell carcinoma)

      CaseHPOFreeText: Other phenotypes presented but not specified (one or more of: pancreatic cyst or tumor, renal or hepatic cyst). Diagnosed with VHL Type 1.

      CaseNotHPOs: HP:0002666; HP:0009711; HP:0010797 (Pheochromocytoma, Retinal capillary hemangioma, Hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: https://doi.org/10.3803/jkes.2006.21.3.239

      SupplementalData: N/A

      Variant: p.Q73* (c.217C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223164, https://www.ncbi.nlm.nih.gov/clinvar/variation/223164/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition; stop_gained

      CivicName: Q73* (c.217C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Korean DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:217 ProteinPosition:73 AminoAcidChange:GLNtoTER ClinVarID:223164 ClinVarID:Yes MutationType:missense_variant;transition MutationType:stop_gained CivicName:Q73*(c.217C>T) Familial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/25078357/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma
    2
    1. ClingenBaseline 21 Oct 2026
      7M–1c.233A > Gp.Asn78Ser11414––14, M14, B4

      PatientID: 7

      KindredID: 7

      Case: M, 14Y0M, Korean

      DiseaseAssertion: VHL

      FamilyInfo: None

      CohortInfo: Thirteen unrelated patients with germline VHL mutations who were diagnosed with VHL disease were evaluated.

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

      CaseHPOFreeText: The patient was found to have a CNS hemangioblastoma, retinal capillary hemangioma, multiple pancreatic cysts and bilateral renal cysts at age 14. MRI of the brain showed a tiny well-enhanced nodule at the cervicomedullary junction with an adjacent prominent vascular structure.

      CaseNotHPOs: HP:0005584, HP:0002666 (renal cell carcinoma, pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.N78S (c.233A>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 93326 https://www.ncbi.nlm.nih.gov/clinvar/variation/93326/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: N78S (c.233A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline Ethnicity:Korean DiseaseEntity:VHL AgeOfPresentation:hemangioblastoma:14 DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticcysts AgeofPresentation:pancreaticcysts:14 DiseaseEntity:renalcyst AgeOfPresentation:renalcyst:14 DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:RetinalCapillaryHemangioma:14 CivicName:N78S(c.233A>G) cDNAposition:233 ProteinPosition:78 AminoAcidChange:ASNtoSER ClinVarID:93326 ClinVarID:Yes MutationType:missense_variant;transition NonFamilial AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:583 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      7M–1c.233A > Gp.Asn78Ser11414––14, M14, B4

      PatientID: 7

      KindredID: 7

      Case: M, 14Y0M, Korean

      DiseaseAssertion: VHL

      FamilyInfo: None

      CohortInfo: Thirteen unrelated patients with germline VHL mutations who were diagnosed with VHL disease were evaluated.

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

      CaseHPOFreeText: The patient was found to have a CNS hemangioblastoma, retinal capillary hemangioma, multiple pancreatic cysts and bilateral renal cysts at age 14. MRI of the brain showed a tiny well-enhanced nodule at the cervicomedullary junction with an adjacent prominent vascular structure.

      CaseNotHPOs: HP:0005584, HP:0002666 (renal cell carcinoma, pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.N78S (c.233A>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 93326 https://www.ncbi.nlm.nih.gov/clinvar/variation/93326/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: N78S (c.233A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline Ethnicity:Korean DiseaseEntity:VHL AgeOfPresentation:hemangioblastoma:14 DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticcysts AgeofPresentation:pancreaticcysts:14 DiseaseEntity:renalcyst AgeOfPresentation:renalcyst:14 DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:RetinalCapillaryHemangioma:14 CivicName:N78S(c.233A>G) cDNAposition:233 ProteinPosition:78 AminoAcidChange:ASNtoSER ClinVarID:93326 ClinVarID:Yes MutationType:missense_variant;transition NonFamilial AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:583 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC4955248/
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Clinical features of pancreatic involvement in von Hippel-Lindau disease: a retrospective study of 55 cases in a single center
    2
    1. ClingenBaseline 21 Oct 2026

      PatientID: 6

      KindredID: 6

      Case: F, 29Y0M, Korean

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: 55 patients treated at Asan Medical Center in Korea treated between January 1995 and February 2013 clinically diagnosed with VHL disease and presenting with pancreatic lesions.

      CasePresentingHPOs: HP:0001737, HP:0030405 (pancreatic cysts, pancreatic endocrine tumor)

      CaseHPOFreeText: The patient presented with serous cystadenoma and pancreatic endocrine tumour at age 26. She was followed up 35.8 months later when her disease was reported to have progressed.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P86S (c.256C>T)

      LegacyVariant:N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 178692 https://www.ncbi.nlm.nih.gov/clinvar/variation/178692/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P86S (c.256C>T)

      MultipleGeneVariants: N/A

      MutationType:missense_variant;transition InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL Ethnicity:Korean NoFamilyInfo DiseaseEntity:pancreaticcysts DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pancreaticendocrinetumor:26 AgeOfPresentation:pancreaticcysts:26 cDNAposition:256 ProteinPosition:86 AminoAcidChange:PROtoSER ClinVarID:178692 CivicName:P86S(c.256C>T) ClinVarID:Yes inferred_gene_hgnc:3603 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026

      PatientID: 6

      KindredID: 6

      Case: F, 29Y0M, Korean

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: 55 patients treated at Asan Medical Center in Korea treated between January 1995 and February 2013 clinically diagnosed with VHL disease and presenting with pancreatic lesions.

      CasePresentingHPOs: HP:0001737, HP:0030405 (pancreatic cysts, pancreatic endocrine tumor)

      CaseHPOFreeText: The patient presented with serous cystadenoma and pancreatic endocrine tumour at age 26. She was followed up 35.8 months later when her disease was reported to have progressed.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P86S (c.256C>T)

      LegacyVariant:N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 178692 https://www.ncbi.nlm.nih.gov/clinvar/variation/178692/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P86S (c.256C>T)

      MultipleGeneVariants: N/A

      MutationType:missense_variant;transition InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL Ethnicity:Korean NoFamilyInfo DiseaseEntity:pancreaticcysts DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pancreaticendocrinetumor:26 AgeOfPresentation:pancreaticcysts:26 cDNAposition:256 ProteinPosition:86 AminoAcidChange:PROtoSER ClinVarID:178692 CivicName:P86S(c.256C>T) ClinVarID:Yes inferred_gene_hgnc:3603 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/25562111/
  5. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Three novel VHL germline mutations in Korean patients with von Hippel-Lindau disease and pheochromocytomas
    2
    1. ClingenBaseline 21 Oct 2026

      PatientID: A-V5

      KindredID: A-V5

      Case: F, 37Y0M, Korean

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002666; HP:0030405 (Pheochromocytoma, Pancreatic endocrine tumor)

      CaseHPOFreeText: Bilateral pheochromocytoma and pancreatic islet cell carcinoma. Diagnosed with VHL type 2.

      CaseNotHPOs: HP:0010797; HP:0009711; HP:0001737; HP:0005584 (Hemangioblastoma, Pancreatic cysts, Renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 25078357

      SupplementalData: N/A

      Variant: p.A149T (c.445G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223213, https://www.ncbi.nlm.nih.gov/clinvar/variation/223213/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: A149T (c.445G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Korean DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:pheochromocytoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:445 ProteinPosition:149 AminoAcidChange:ALAtoTHR ClinVarID:223213 ClinVarID:Yes MutationType:missense_variant;transition CivicName:A149T(c.445G>A) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026

      PatientID: A-V5

      KindredID: A-V5

      Case: F, 37Y0M, Korean

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002666; HP:0030405 (Pheochromocytoma, Pancreatic endocrine tumor)

      CaseHPOFreeText: Bilateral pheochromocytoma and pancreatic islet cell carcinoma. Diagnosed with VHL type 2.

      CaseNotHPOs: HP:0010797; HP:0009711; HP:0001737; HP:0005584 (Hemangioblastoma, Pancreatic cysts, Renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 25078357

      SupplementalData: N/A

      Variant: p.A149T (c.445G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223213, https://www.ncbi.nlm.nih.gov/clinvar/variation/223213/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: A149T (c.445G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Korean DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:pheochromocytoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:445 ProteinPosition:149 AminoAcidChange:ALAtoTHR ClinVarID:223213 ClinVarID:Yes MutationType:missense_variant;transition CivicName:A149T(c.445G>A) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/16142346/