3 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Histopathology and Molecular Genetics of Multiple Cysts and Microcystic (Serous) Adenomas of the Pancreas in von Hippel-Lindau Patients
    1
    1. ClingenBaseline 26 Oct 2026
      nt 393 del G, codon 137, exon 1, stop

      PatientID: 6

      KindredID: 6

      Case: F, 42Y0M, Ethnicity unknown

      DiseaseAssertion: VHL

      FamilyInfo: Familial association - patient was selected from the group of familial VHL patients. This VHL germline mutation was detected in a close relative.

      CasePresentingHPOs: HP:0001737; HP:0010797; HP:0030405 (pancreatic cysts; hemangioblastoma; pancreatic endocrine tumour)

      CaseHPOFreeText: 2 single benign cysts, 6 macroscopic (and 1 microscopic) microcystic adenomas

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Val62Cysfs*5 (c.180delG)

      LegacyVariant: p.V137Cfs*5 (c.393delG)

      ClinVarID: 182986 https://www.ncbi.nlm.nih.gov/clinvar/variation/182986/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: V62fs (c.180delG)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pancreaticcysts DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:hemangioblastoma Mutation:Germline AssumedRefSeq:AF010238.1 Familial CivicName:V62fs(c.180delG) cDNAposition:180 ProteinPosition:62 AminoAcidChange:VALtoCYS MutationType:minus_1_frameshift_variant ClinVarID:182986 ClinVarID:Yes inferred_gene_hgnc:1076 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC1885721/
  3. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genotype–phenotype correlations in von Hippel-Lindau disease
    1
    1. ClingenBaseline 24 Oct 2026

      GroupID: 85

      Case: 27Y0M, Sex Unknown, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: 1 of the 573 patients discussed in this paper were found to have this variant. This mutation (c.538A>G) was found in 1 VHL family with a single patient.

      CasePresentingHPOs: HP:0005584 (renal cell carcinoma)

      CaseHPOFreeText: patient had RCCs diagnosed at 27Y

      CaseNotHPOs: HP:0009711; HP:0006880; HP:0002666 (retinal capillary hemangioma; cerebellar hemangioblastoma; pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table S1.

      Variant: p.I180V (c.538A>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 161401 https://www.ncbi.nlm.nih.gov/clinvar/variation/161401/

      CAID: N/A

      gnomAD: 0.00001061 https://gnomad.broadinstitute.org/variant/3-10191545-A-G

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: I180V (c.538A>G)

      MultipleGeneVariants: N/A

      ClinVarID:161401 ClinVarID:Yes DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma AgeOfPresentation:renalcellcarcinoma:27 cDNAposition:538 cDNAposition:180 AminoAcidChange:ILEtoVAL CivicName:I180V(c.538A>G) MutationType:missense_variant;transition Mutation:Germline ExperimentalAssay InheritancePattern:AutosomalDominant NoFamilyInfo RefSeq:NM_000551.2 SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/10.1002/humu.20385
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan
    1
    1. ClingenBaseline 24 Oct 2026
      Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected.

      GroupID/ KindredID: 3563NCI

      DiseaseAssertion: VHL

      GroupSize: N/A

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: This germline familial VHL mutation was taken from the National Cancer Institute database, with an unknown number of members belonging to Family ID 3563NCI. Table 3 lists all ID and mutations associated with individuals possessing renal carcinoma, without phechromocytoma.

      GroupPresentingHPOs: HP:0005548 (renal cell carcinoma)

      GroupHPOFreeText: Described as a VHL familywith RCC, without pheochromocytoma. Other phenotypes are likely, however not detailed in this publication

      GroupNotHPOs: HP:0002666 (pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: 7728151; 9829911

      SupplementalData: N/A

      Variant: p.V62Cfs*5 (c.180delG)

      LegacyVariant: (c.393delG)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182986 https://www.ncbi.nlm.nih.gov/clinvar/variation/182986/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: This paper declares this variant is predicted to compromise the Elongin-binding site by truncating the protein.

      MutationType: minus_1_frameshift_variant

      CivicName: V62fs (c.180delG)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:renalcellcarcinoma cDNAposition:180 CivicName:V62fs(c.180delG) ProteinPosition:62 MutationType:minus_1_frameshift_variant AminoAcidChange:VALtoCYS ClinVarID:182986 ClinVarID:Yes Familial FamilyCohort inferred_gene_hgnc:1076 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/8956040/