14 Matching Annotations
  1. Last 7 days
  2. jnnp.bmj.com jnnp.bmj.com
    Reconsideration of biallelic inactivation of theVHL tumour suppressor gene in hemangioblastomas of the central nervous system
    2
    1. ClingenBaseline 21 Oct 2026
      10Cerebellum479 T/CL89PMissenseNINegative

      PatientID: 10

      KindredID: 4

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Patient 10 and 4 are related with the same p.L89P mutation and cerebellar hemangioblastomas. Their exact relation was not clear.

      CohortInfo: A total of 42 CNS haemangioblastoma samples were obtained from 31 patients, who were consecutively treated between 1993 and 1997 at the Department of Neurosurgery of the Freiburg University Medical Centre.

      CasePresentingHPOs: HP:0006880 (cerebellar hemangioblastoma)

      CaseHPOFreeText: Patient presented with a VHL-related tumor in the cerebellum.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L89P (c.266T>C)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.L89P (c.479T>C)

      ClinVarID: 182979 https://www.ncbi.nlm.nih.gov/clinvar/variation/182979/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: L89P (c.266T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:AF010238.1 DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma CivicName:L89P(c.266T>C) cDNAposition:266 AminoAcidChange:LEUtoPRO ProteinPosition:89 MutationType:missense_variant;transition ClinVarID:182979 ClinVarID:Yes Familial inferred_gene_hgnc:1076 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      10Cerebellum479 T/CL89PMissenseNINegative

      PatientID: 10

      KindredID: 4

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Patient 10 and 4 are related with the same p.L89P mutation and cerebellar hemangioblastomas. Their exact relation was not clear.

      CohortInfo: A total of 42 CNS haemangioblastoma samples were obtained from 31 patients, who were consecutively treated between 1993 and 1997 at the Department of Neurosurgery of the Freiburg University Medical Centre.

      CasePresentingHPOs: HP:0006880 (cerebellar hemangioblastoma)

      CaseHPOFreeText: Patient presented with a VHL-related tumor in the cerebellum.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L89P (c.266T>C)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.L89P (c.479T>C)

      ClinVarID: 182979 https://www.ncbi.nlm.nih.gov/clinvar/variation/182979/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: L89P (c.266T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:AF010238.1 DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma CivicName:L89P(c.266T>C) cDNAposition:266 AminoAcidChange:LEUtoPRO ProteinPosition:89 MutationType:missense_variant;transition ClinVarID:182979 ClinVarID:Yes Familial inferred_gene_hgnc:1076 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    jnnp.bmj.com/content/70/5/644
  3. 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
  4. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genetic analysis of von Hippel-Lindau disease
    2
    1. ClingenBaseline 21 Oct 2026

      PatientID: N/A

      KindredID: 23530

      Case: Age unknown, Sex unknown, Ethnicity unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: Paper states familial VHL

      CasePresentingHPOs: HP:0010797; HP:0005584; HP:0001737; HP:0000107 (hemangioblastoma; renal cell carcinoma; pacreatic cysts; renal cyst)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Yes (Specifically Supp. Table S2)

      Variant: p.L89P (c.266T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182979 https://www.ncbi.nlm.nih.gov/clinvar/variation/182979

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: L89P (c.266T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:NM_000551.2 DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticcysts DiseaseEntity:renalcyst AminoAcidChange:LEUtoPRO ProteinPosition:89 cDNAposition:266 CivicName:L89P(c.266T>C) MutationType:missense_variant;transition ClinVarID:182979 ClinVarID:Yes Familial ExperimentalAssay SupplementalData inferred_gene_hgnc:1076 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026

      PatientID: N/A

      KindredID: 23530

      Case: Age unknown, Sex unknown, Ethnicity unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: Paper states familial VHL

      CasePresentingHPOs: HP:0010797; HP:0005584; HP:0001737; HP:0000107 (hemangioblastoma; renal cell carcinoma; pacreatic cysts; renal cyst)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Yes (Specifically Supp. Table S2)

      Variant: p.L89P (c.266T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 182979 https://www.ncbi.nlm.nih.gov/clinvar/variation/182979

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: L89P (c.266T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:NM_000551.2 DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticcysts DiseaseEntity:renalcyst AminoAcidChange:LEUtoPRO ProteinPosition:89 cDNAposition:266 CivicName:L89P(c.266T>C) MutationType:missense_variant;transition ClinVarID:182979 ClinVarID:Yes Familial ExperimentalAssay SupplementalData inferred_gene_hgnc:1076 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/abs/10.1002/humu.21219
  5. academic.oup.com academic.oup.com
    Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma
    2
    1. ClingenBaseline 21 Oct 2026

      PatientID: None

      KindredID: VHL23

      Case: M, 13Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: A total of 190 patients recruited by the COMETE network over 15 years were included in the study.

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: The patient had one malignant pheochromocytoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/SDHB/SDHC/SDHD

      PreviouslyPublished: N/A

      SupplementalData: Table 1 of Supplementary

      Variant: p.L178P (c.533T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 428795, https://www.ncbi.nlm.nih.gov/clinvar/variation/428795/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: The patient had LOH found in the BAC array CGH data.

      MutationType: missense_variant;transition

      CivicName: L178P (c.533T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:13 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:533 ProteinPosition:178 AminoAcidChange:LEUtoPRO ClinVarID:428795 ClinVarID:Yes MutationType:missense_variant;transition CivicName:L178P(c.533T>C) PreviousTesting:RET/SDHB/SDHC/SDHD NoFamilyInfo SupplementalData inferred_gene_hgnc:30832 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026

      PatientID: None

      KindredID: VHL23

      Case: M, 13Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: A total of 190 patients recruited by the COMETE network over 15 years were included in the study.

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: The patient had one malignant pheochromocytoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/SDHB/SDHC/SDHD

      PreviouslyPublished: N/A

      SupplementalData: Table 1 of Supplementary

      Variant: p.L178P (c.533T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 428795, https://www.ncbi.nlm.nih.gov/clinvar/variation/428795/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: The patient had LOH found in the BAC array CGH data.

      MutationType: missense_variant;transition

      CivicName: L178P (c.533T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:13 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:533 ProteinPosition:178 AminoAcidChange:LEUtoPRO ClinVarID:428795 ClinVarID:Yes MutationType:missense_variant;transition CivicName:L178P(c.533T>C) PreviousTesting:RET/SDHB/SDHC/SDHD NoFamilyInfo SupplementalData inferred_gene_hgnc:30832 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    academic.oup.com/hmg/article/20/20/3974/696619
  6. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Identification and In Silico Analysis of Novel von Hippel-Lindau (VHL) Gene Variants from a Large Population
    2
    1. ClingenBaseline 21 Oct 2026

      PatientID: 160

      KindredID: 160

      Case: Sex Unknown, 14Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0009711; HP:0002666; HP:0000107; HP:0001732 (Retinal capillary hemangioma, Pheochromocytoma, Renal cyst, Abnormality of the pancreas)

      CaseHPOFreeText: Retinal hemangioblastoma, pheochromocytoma, renal cystic lesion and pancreatic cyst or tumor.

      CaseNotHPOs: HP:0006770; HP:0010797 (Clear cell renal cell carcinoma, Hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Table S1, S2 and S3

      Variant: p.L178P (c.533T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 428795, https://www.ncbi.nlm.nih.gov/clinvar/variation/428795/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Variant noted as c.533C>T/p.L178P which was assumed to be c.533T>C.

      MutationType: missense_variant;transition

      CivicName: L178P (c.533T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:pheochromocytoma DiseaseEntity:renalcyst DiseaseEntity:abnormalityofthepancreas Mutation:Germline RefSeq:NM_000551.3 cDNAposition:533 ProteinPosition:178 AminoAcidChange:LEUtoPRO ClinVarID:428795 ClinVarID:Yes MutationType:missense_variant;transition CivicName:L178P(c.533T>C) NoFamilyInfo SupplementalData ExperimentalAssay inferred_gene_hgnc:30832 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026

      PatientID: 160

      KindredID: 160

      Case: Sex Unknown, 14Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0009711; HP:0002666; HP:0000107; HP:0001732 (Retinal capillary hemangioma, Pheochromocytoma, Renal cyst, Abnormality of the pancreas)

      CaseHPOFreeText: Retinal hemangioblastoma, pheochromocytoma, renal cystic lesion and pancreatic cyst or tumor.

      CaseNotHPOs: HP:0006770; HP:0010797 (Clear cell renal cell carcinoma, Hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Table S1, S2 and S3

      Variant: p.L178P (c.533T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 428795, https://www.ncbi.nlm.nih.gov/clinvar/variation/428795/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Variant noted as c.533C>T/p.L178P which was assumed to be c.533T>C.

      MutationType: missense_variant;transition

      CivicName: L178P (c.533T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:pheochromocytoma DiseaseEntity:renalcyst DiseaseEntity:abnormalityofthepancreas Mutation:Germline RefSeq:NM_000551.3 cDNAposition:533 ProteinPosition:178 AminoAcidChange:LEUtoPRO ClinVarID:428795 ClinVarID:Yes MutationType:missense_variant;transition CivicName:L178P(c.533T>C) NoFamilyInfo SupplementalData ExperimentalAssay inferred_gene_hgnc:30832 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/21463266/
  7. 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
    2
    1. ClingenBaseline 21 Oct 2026
      Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected.

      GroupID/ KindredID: 3786NCI

      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 3786NCI. Table 4 lists all ID and mutations associated with individuals with pheochromocytoma.

      GroupPresentingHPOs: HP:0002666 (pheochromocytoma)

      GroupHPOFreeText: Described as a VHL family with pheochromocytoma. Other phenotypes are likely, including renal cell carcinoma, however not detailed here.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: 7728151

      SupplementalData: N/A

      Variant: p.L178P (c.533T>C)

      LegacyVariant: p.L178P (c.746T>C)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 428795 https://www.ncbi.nlm.nih.gov/clinvar/variation/428795/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: This paper declares this variant is predicted to compromise the Elongin-binding site by location between codons 157 and 189.

      MutationType: missense_variant; transition

      CivicName: L178P (c.533T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:pheochromocytoma cDNAposition:533 CivicName:L178P(c.533T>C) ProteinPosition:178 AminoAcidChange:LEUtoPRO MutationType:missense_variant;transition ClinVarID:428795 ClinVarID:Yes Familial FamilyCohort inferred_gene_hgnc:30832 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected.

      GroupID/ KindredID: 3786NCI

      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 3786NCI. Table 4 lists all ID and mutations associated with individuals with pheochromocytoma.

      GroupPresentingHPOs: HP:0002666 (pheochromocytoma)

      GroupHPOFreeText: Described as a VHL family with pheochromocytoma. Other phenotypes are likely, including renal cell carcinoma, however not detailed here.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: 7728151

      SupplementalData: N/A

      Variant: p.L178P (c.533T>C)

      LegacyVariant: p.L178P (c.746T>C)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 428795 https://www.ncbi.nlm.nih.gov/clinvar/variation/428795/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: This paper declares this variant is predicted to compromise the Elongin-binding site by location between codons 157 and 189.

      MutationType: missense_variant; transition

      CivicName: L178P (c.533T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:pheochromocytoma cDNAposition:533 CivicName:L178P(c.533T>C) ProteinPosition:178 AminoAcidChange:LEUtoPRO MutationType:missense_variant;transition ClinVarID:428795 ClinVarID:Yes Familial FamilyCohort inferred_gene_hgnc:30832 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/8956040/
  8. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions
    2
    1. ClingenBaseline 21 Oct 2026

      PatientID: 5730

      KindredID: 269

      Case: Sex Unknown, Age Unknown, French

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: Families were recruited from the French VHL Registry. Enrolment in the study required identification of the germline VHL mutation (currently 85% of the families included in the French VHL Registry) and available data regarding renal phenotype. A total of 126 families fulfilled these criteria.

      CasePresentingHPOs: HP:0005584 (Renal cell carcinoma)

      CaseHPOFreeText: Severe renal disease (any solid lesion before 25 years of age, five or more solid lesions within one or two kidneys, or metastasis of renal cell carcinoma). Individual RCC phenotype is noted as positive.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: Paper states that this family is previously reported in PMID 12202531 and/or 9829912, where 1 and 1 individuals respectively with this mutation are reported. It is unclear if one or both of these previously reported groups are the same as the current family. These previously published individuals could alternatively correspond to family 1005.

      SupplementalData: Phenotype and genotype information can be found in Supplementary Table S1.

      Variant: p.L188P (c.563T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 625266, https://www.ncbi.nlm.nih.gov/clinvar/variation/625266/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: L188P (c.563T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:French DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma Mutation:Germline RefSeq:NM_000551.3 cDNAposition:563 ProteinPosition:188 AminoAcidChange:LEUtoPRO ClinVarID:625266 ClinVarID:Yes MutationType:missense_variant;transition CivicName:L188P(c.563T>C) NoFamilyInfo SupplementalData inferred_gene_hgnc:7450 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026

      PatientID: 5730

      KindredID: 269

      Case: Sex Unknown, Age Unknown, French

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: Families were recruited from the French VHL Registry. Enrolment in the study required identification of the germline VHL mutation (currently 85% of the families included in the French VHL Registry) and available data regarding renal phenotype. A total of 126 families fulfilled these criteria.

      CasePresentingHPOs: HP:0005584 (Renal cell carcinoma)

      CaseHPOFreeText: Severe renal disease (any solid lesion before 25 years of age, five or more solid lesions within one or two kidneys, or metastasis of renal cell carcinoma). Individual RCC phenotype is noted as positive.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: Paper states that this family is previously reported in PMID 12202531 and/or 9829912, where 1 and 1 individuals respectively with this mutation are reported. It is unclear if one or both of these previously reported groups are the same as the current family. These previously published individuals could alternatively correspond to family 1005.

      SupplementalData: Phenotype and genotype information can be found in Supplementary Table S1.

      Variant: p.L188P (c.563T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 625266, https://www.ncbi.nlm.nih.gov/clinvar/variation/625266/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: L188P (c.563T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:French DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma Mutation:Germline RefSeq:NM_000551.3 cDNAposition:563 ProteinPosition:188 AminoAcidChange:LEUtoPRO ClinVarID:625266 ClinVarID:Yes MutationType:missense_variant;transition CivicName:L188P(c.563T>C) NoFamilyInfo SupplementalData inferred_gene_hgnc:7450 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/15300849/