4 Matching Annotations
  1. Last 7 days
  2. iovs.arvojournals.org iovs.arvojournals.org
    Retinal Hemangioblastoma in von Hippel-Lindau Disease: A Clinical and Molecular Study
    2
    1. ClingenBaseline 21 Oct 2026
      473T→C Ts Exon 3 158 CTG L L158P

      GroupID: 42

      Case: Age unknown, Sex unknown, French

      DiseaseAssertion: VHL

      FamilyInfo: N/A - only 1 patient reported here

      CasePresentingHPOs: HP:0009711 (retinal capillary hemangioma)

      CaseHPOFreeText: Other manifestations are possibly but not clearly reported

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: Possibly published in PMID:15300849

      SupplementalData: N/A

      Variant: p.L158P (c.473T>C)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 182980 https://www.ncbi.nlm.nih.gov/clinvar/variation/182980/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: L158P (c.473T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant NoFamilyInfo DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma ClinVarID:Yes ClinVarID:182980 MutationType:missense_variant;transition ProteinPosition:158 cDNAposition:473 CivicName:L158P(c.473T>C) AminoAcidChange:LEUtoPRO AssumedRefSeq:NM_000551.3 Mutation:Germline Ethnicity:French inferred_gene_hgnc:1076 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      473T→C Ts Exon 3 158 CTG L L158P

      GroupID: 42

      Case: Age unknown, Sex unknown, French

      DiseaseAssertion: VHL

      FamilyInfo: N/A - only 1 patient reported here

      CasePresentingHPOs: HP:0009711 (retinal capillary hemangioma)

      CaseHPOFreeText: Other manifestations are possibly but not clearly reported

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: Possibly published in PMID:15300849

      SupplementalData: N/A

      Variant: p.L158P (c.473T>C)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 182980 https://www.ncbi.nlm.nih.gov/clinvar/variation/182980/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: L158P (c.473T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant NoFamilyInfo DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma ClinVarID:Yes ClinVarID:182980 MutationType:missense_variant;transition ProteinPosition:158 cDNAposition:473 CivicName:L158P(c.473T>C) AminoAcidChange:LEUtoPRO AssumedRefSeq:NM_000551.3 Mutation:Germline Ethnicity:French inferred_gene_hgnc:1076 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    iovs.arvojournals.org/article.aspx
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma
    2
    1. ClingenBaseline 21 Oct 2026

      GroupID: V43

      DiseaseAssertion: VHL

      GroupSize: 4

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: French

      GroupAgeRange: N/A

      GroupInfo: Patients are grouped by family.

      FamilyInfo: 4/7 members of this family that underwent genetic testing had the same mutation.

      GroupPresentingHPOs: N/A

      GroupHPOFreeText: Diagnosed with VHL Type 1.

      GroupNotHPOs: HP:0002666 (Pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: Likely 15300849

      SupplementalData: N/A

      Variant: p.L158dup (c.473_474insTTT)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA2573320246, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573320246

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_insertion

      CivicName: L158dup (c.473_474insTTT)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:French DiseaseEntity:VHL Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:473 ProteinPosition:158 AminoAcidChange:N/A ClinVarID:N/A CAID:CA2573320246 MutationType:inframe_insertion CivicName:L158dup(c.473_474insTTT) Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026

      GroupID: V43

      DiseaseAssertion: VHL

      GroupSize: 4

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: French

      GroupAgeRange: N/A

      GroupInfo: Patients are grouped by family.

      FamilyInfo: 4/7 members of this family that underwent genetic testing had the same mutation.

      GroupPresentingHPOs: N/A

      GroupHPOFreeText: Diagnosed with VHL Type 1.

      GroupNotHPOs: HP:0002666 (Pheochromocytoma)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: Likely 15300849

      SupplementalData: N/A

      Variant: p.L158dup (c.473_474insTTT)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA2573320246, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573320246

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_insertion

      CivicName: L158dup (c.473_474insTTT)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:French DiseaseEntity:VHL Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:473 ProteinPosition:158 AminoAcidChange:N/A ClinVarID:N/A CAID:CA2573320246 MutationType:inframe_insertion CivicName:L158dup(c.473_474insTTT) Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/9829912/