3 Matching Annotations
  1. Last 7 days
  2. www.e-enm.org www.e-enm.org
    Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population
    2
    1. ClingenBaseline 05 Nov 2026
      7 F/40 PCC VHL 3 c.499C>T (p.Arg167Trp) Pre-NGS Sanger Rt adrenal 4.6 Benign No Hemangioblastoma of brainstem, pancreatic NET, RCC Incidental Noradrenergic

      PatientID: 7

      KindredID: 7

      Case: F, 40Y0M, Korean

      DiseaseAssertion: Assumed VHL

      FamilyInfo: No information provided.

      CasePresentingHPOs: HP:0006748; HP:0005584; HP:0030405; HP:0006880 (adrenal pheochromocytoma, renal cell carcinoma, pancreatic endocrine tumor, cerebellar hemangioblastoma)

      CaseHPOFreeText: The patient presented with adrenal pheochromocytoma. She also had other tumours, including renal cell carcinoma, pancreatic endocrine tumor, cerebellar hemangioblastoma (see table 3).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, NF1, MAX, SDHA/SDHAF2/SDHB/SDHC/SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R167W (c.499C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2218, https://www.ncbi.nlm.nih.gov/clinvar/variation/2218/

      CAID: N/A

      gnomAD: 0.000007954, http://gnomad.broadinstitute.org/variant/3-10191506-C-T

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: R167W (c.499C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transition AssumedRefSeq:NM_000551.3 ClinVarID:Yes ClinVarID:2218 PreviousTesting:RET/NF1/MAX/SDHA/SDHAF2/SDHB/SDHC/SDHD NoFamilyInfo DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:cerebellarhemangioblastoma AgeOfPresentation:adrenalpheochromocytoma:40 CivicName:R167W(c.499C>T) cDNAPosition:499 ProteinPosition:167 AminoAcidChange:ARGtoTRP Ethnicity:Korean inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 04 Nov 2026
      8 F/49 PCC VHL 1 c.262T>C (p.Trp88Arg) Pre-NGS Sanger Bilateral adrenal Metastatic No RCC, hemangioblastoma of cerebellum Incidental Silent

      PatientID: 8

      KindredID: 8

      Case: F, 49Y0M, Korean

      DiseaseAssertion: Assumed VHL

      FamilyInfo: No information provided.

      CasePresentingHPOs: HP:0006748; HP:0005584; HP:0006880 (adrenal pheochromocytoma, renal cell carcinoma, cerebellar hemangioblastoma)

      CaseHPOFreeText: The patient presented with adrenal pheochromocytoma. She also had other tumours, including renal cell carcinoma and cerebellar hemangioblastoma (see table 3).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, NF1, MAX, SDHA/SDHAF2/SDHB/SDHC/SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.W88R (c.262T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 496053, https://www.ncbi.nlm.nih.gov/clinvar/variation/496053/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: W88R (c.262T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transition AssumedRefSeq:NM_000551.3 Ethnicity:Korean NoFamilyInfo PreviousTesting:RET/NF1/MAX/SDHA/SDHAF2/SDHB/SDHC/SDHD ClinVarID:Yes ClinVarID:496053 DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:renalcellcarcinoma AgeOfPresentation:adrenalpheochromocytoma:49 CivicName:W88R(c.262T>C) cDNAPosition:262 ProteinPosition:88 AminoAcidChange:TRPtoARG inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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  3. Oct 2026
  4. www.e-enm.org www.e-enm.org
    Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population
    1
    1. ClingenBaseline 29 Oct 2026
      9 M/53 PCC VHL 1 c.208G>A (p.Glu70Lys) Pre-NGS Sanger Bilateral adrenal 3.5 Metastatic Yes Incidental Noradrenergic

      PatientID: 9

      KindredID: 9

      Case: M, 53Y0M, Korean

      DiseaseAssertion: Adrenal pheochromocytoma

      FamilyInfo: No information provided.

      CasePresentingHPOs: HP:0006748 (adrenal pheochromocytoma)

      CaseHPOFreeText: The patient presented with adrenal pheochromocytoma (see table 3).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, NF1, MAX, SDHA/SDHAF2/SDHB/SDHC/SDHD

      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:AutosomalDominant Mutation:Germline MutationType:missense_variant;transition AssumedRefSeq:NM_000551.3 NoFamilyInfo Ethnicity:Korean DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:adrenalpheochromocytoma:53 ClinVarID:Yes ClinVarID:43598 PreviousTesting:RET/NF1/MAX/SDHA/SDHAF2/SDHB/SDHC/SDHD CivicName:E70K(c.208G>A) cDNAPosition:208 ProteinPosition:70 AminoAcidChange:GLUtoLYS inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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