2 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Outcome and genetic analysis of patients affected by retinal capillary hemangioblastoma in von Hippel Lindau syndrome
    1
    1. ClingenBaseline 04 Nov 2026
      P14F8M2433nyOU20/200nn20/20nnn

      PatientID: 14

      KindredID: 8

      Case: M, 35Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: No details regarding family information is provided.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Patient has VHL disease characterized by tumours, but specific types of tumours were not indicated

      CaseNotHPOs: HP:0010797; HP:0009711 (hemangioblastoma, Retinal capillary hemangioma)

      CaseNotHPOFreeText: Patient did not have CNS hemangioblastoma or Retinal capillary hemangiomas.

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.E52* (c.154G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182982, https://www.ncbi.nlm.nih.gov/clinvar/variation/182982/

      CAID: N/A

      gnomAD: 0.00001795, https://gnomad.broadinstitute.org/variant/3-10183685-G-T

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: E52* (c.154G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:stop_gained NoFamilyInfo AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL ClinVarID:182982 CivicName:E52*(c.154G>T) cDNAPosition:154 ProteinPosition:52 AminoAcidChange:GLUtoTER inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC8416136/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Targeted sequencing of crucial cancer causing genes of breast cancer in Saudi patients
    1
    1. ClingenBaseline 31 Oct 2026
      BCB-D-59TP53c.241C > Tp.R81XHetStopgainVHLc.154G > Tp.E52XHomoStopgainMLH1c.208-1G > C–HetSplicing

      PatientID: BCB-D-59

      KindredID: 1

      Case: Sex Unknown, Age Unknown, Saudi

      DiseaseAssertion: Breast carcinoma

      FamilyInfo: No family information reported.

      CasePresentingHPOs: HP:0003002 (breast carcinoma)

      CaseHPOFreeText: Patient has breast carcinoma. No other information is provided.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: Ion AmpliSeq™ BRCA1 and BRCA2 Panel.

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.E52* (c.154G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182982, https://www.ncbi.nlm.nih.gov/clinvar/variation/182982/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: E52* (c.154G>T)

      MultipleGeneVariants: Germline, TP53, c.241C>T (p.R81X); Germline, MLH1, c.208-1G>C (p.E52X)

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:stop_gained AssumedRefSeq:NM_000551.3 DiseaseEntity:breastcarcinoma CivicName:E52*(c.154G>T) cDNAPosition:154 ProteinPosition:52 AminoAcidChange:GLUtoTER ClinVarID:Yes ClinVarID:182982 NoFamilyInfo Ethnicity:Saudi MultipleGeneVariants inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC7499116/