7 Matching Annotations
  1. Last 7 days
  2. eje.bioscientifica.com eje.bioscientifica.com
    Germline mutations and genotype–phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma
    2
    1. ClingenBaseline 31 Oct 2026
      32M/14FSB/L PCCFamily history+VHL3c.533T>Ap.(Leu178Gln)Substitution (missense)Disease causing

      PatientID: 32

      KindredID: 32

      Case: M, 14Y0M, Asian Indian

      DiseaseAssertion: pheochromocytoma

      FamilyInfo: Positive family history

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: patient had bilateral pheochromocytoma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/ SDHB/ SDHD/ NF1

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L178Q (c.533T>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 625260 https://www.ncbi.nlm.nih.gov/clinvar/variation/625260/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: L178Q (c.533T>A)

      MultipleGeneVariants: N/A

      DiseaseEntity:pheochromocytoma AssumedRefSeq:NM_000551.3 CivicName:L178Q(c.533T>A) cDNAposition:533 ProteinPosition:178 AminoAcidChange:LEUtoGLN MutationType:missense_variant;transversion ClinVarID:625260 ClinVarID:Yes Familial Mutation:Germline PreviousTesting:NF1/RET/SDHB/SDHD inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 29 Oct 2026
      31M/21ASUnilateral PCCVHL3c.533T>Ap.(Leu178Gln)Substitution (missense)Disease causing

      PatientID: 31

      KindredID: 31

      Case: M, 21Y0M, Asian Indian

      DiseaseAssertion: pheochromocytoma

      FamilyInfo: None - apparently sporadic

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: patient had unilateral pheochromocytoma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/ SDHB/ SDHD/ NF1

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L178Q (c.533T>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 625260 https://www.ncbi.nlm.nih.gov/clinvar/variation/625260/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: L178Q (c.533T>A)

      MultipleGeneVariants: N/A

      DiseaseEntity:pheochromocytoma AssumedRefSeq:NM_000551.3 CivicName:L178Q(c.533T>A) cDNAposition:533 ProteinPosition:178 AminoAcidChange:LEUtoGLN MutationType:missense_variant;transversion ClinVarID:625260 ClinVarID:Yes NoFamilyInfo Mutation:Germline Ethnicity:SouthAsian PreviousTesting:NF1/RET/SDHB/SDHD inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    eje.bioscientifica.com/view/journals/eje/175/4/311.xml
  3. link.springer.com link.springer.com
    Somatic Mutation Analysis of the SDHB , SDHC , SDHD , and RET Genes in the Clinical Assessment of Sporadic and Hereditary Pheochromocytoma
    1
    1. ClingenBaseline 31 Oct 2026

      PatientID: 15

      KindredID: 15

      Case: F, 24Y0M, Ethnicity Unknown

      DiseaseAssertion: Adrenal pheochromocytoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006748 (adrenal pheochromocytoma)

      CaseHPOFreeText: The patient was found to have multiple benign tumour 7 cm in size in her adrenal gland.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/SDHC/SDHB/SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.L178Q(c.533T>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 625260 https://www.ncbi.nlm.nih.gov/clinvar/variation/625260/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: The patient had LOH of SDHC as indicated in Table 1.

      MutationType: missense_variant;transversion

      CivicName: L178Q(c.533T>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 ageofpresentation:adrenalpheochromocytoma:24 DiseaseEntity:adrenalpheochromocytoma NoFamilyInfo PreviousTesting:RET/SDHB/SDHD/SDHC CivicName:L178Q(c.533T>A) cDNAposition:533 ProteinPosition:178 AminoAcidChange:LEUtoGLN ClinVarID:625260 ClinVarID:Yes MutationType:missense_variant;transversion inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    link.springer.com/article/10.1007/s12672-012-0113-y
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Molecular Characterization of a Novel Germline VHL Mutation by Extensive In Silico Analysis in an Indian Family with Von Hippel-Lindau Disease
    1
    1. ClingenBaseline 30 Oct 2026
      another affected relative [III-A, in the pedigree]

      PatientID: III-A

      KindredID: 1

      Case: M, 30Y0M, EthnicityUnknown

      DiseaseAssertion: VHL

      FamilyInfo: Multiple first- and second-degree relatives affected with similar phenotypes. Of these, he is genetically tested and found to share VHL mutations with his uncle (proband).

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Paper asserts that this individual presented with VHL phenotypes but does not specify which.

      CaseNotHPOs: NA

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Information obtained from Figure 1

      Variant: p.L158Q (c.473T>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 376048, https://www.ncbi.nlm.nih.gov/clinvar/variation/376048/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: P86S (c.256C>T) and Splice Region (c.340+5G>C)

      MultipleGeneVariants: Germline, VHL, c.340+5G>C

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL Mutation:Germline RefSeq:NM_000551 AssumedRefSeq:NM_000551.3 cDNAposition:473 ProteinPosition:158 AminoAcidChange:LEUtoGLN ClinVarID:376048 ClinVarID:Yes MultipleVHLVariants MutationType:missense_variant;transversion PreviousTesting: N/A FamilyPedigree Familial SupplementalData CivicName:P86S(c.256C>T)andSpliceRegion(c.340+5G>C) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC4812357/
  5. academic.oup.com academic.oup.com
    Differential Genetic Alterations in von Hippel-Lindau Syndrome-Associated and Sporadic Pheochromocytomas
    2
    1. ClingenBaseline 30 Oct 2026

      PatientID: 18 (tumour 30,31,32)

      KindredID: 3

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: One other members of this patient's family (patient 17) was found to harbour the same VHL gene mutation.

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: The patient had three benign pheochromocytomas.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET

      PreviouslyPublished: 7759077, 9681856

      SupplementalData: N/A

      Variant: p.L178Q(c.533T>A)

      LegacyVariant: p.L178Q(c.746T>A)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 625260 https://www.ncbi.nlm.nih.gov/clinvar/variation/625260/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: L178Q(c.533T>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:AF010238.1 DiseaseEntity:VHL Familial DiseaseEntity:pheochromocytoma PreviousTesting:RET CivicName:L178Q(c.533T>A) cDNAposition:533 ProteinPosition:178 AminoAcidChange:LEUtoGLN ClinVarID:625260 ClinVarID:Yes MutationType:missense_variant;transversion inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 30 Oct 2026

      PatientID: 17 (tumour 29)

      KindredID: 3

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: One other members of this patient's family (patient 18) was found to harbour the same VHL gene mutation.

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: Benign pheochromocytoma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET

      PreviouslyPublished: 7759077, 9681856

      SupplementalData: N/A

      Variant: p.L178Q(c.533T>A)

      LegacyVariant: p.L178Q(c.746T>A)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 625260 https://www.ncbi.nlm.nih.gov/clinvar/variation/625260/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: L178Q(c.533T>A)

      MultipleGeneVariants: N/A

      MutationType:missense_variant;transversion InheritancePattern:AutosomalDominant Familial DiseaseEntity:VHL Mutation:Germline DiseaseEntity:pheochromocytoma PreviousTesting:RET cDNAposition:533 ProteinPosition:178 AminoAcidChange:LEUtoGLN ClinVarID:625260 ClinVarID:Yes CivicName:L178Q(c.533T>A) AssumedRefSeq:AF010238.1 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    academic.oup.com/jcem/article/85/12/4568/2853213
  6. Oct 2026
  7. 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
    1
    1. ClingenBaseline 23 Oct 2026

      PatientID: V80

      KindredID: V80

      Case: Sex Unknown, Age Unknown, French

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: Diagnosed with VHL Type 2B.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: Likely 15300849

      SupplementalData: N/A

      Variant: p.L140Qfs*3 (c.419_420del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA357039, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.419_420del

      gnomAD: N/A

      VariantEvidence: Reported as c.417del2 and mapped to c.419_420del.

      MutationType: deletion; minus_2_frameshift_variant

      CivicName: L140fs (c.419_420del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:419 ProteinPosition:140 AminoAcidChange:LEUtoGLN ClinVarID:N/A CAID:CA357039 MutationType:minus_2_frameshift_variant MutationType:deletion CivicName:L140fs(c.419_420del) NoFamilyInfo Ethnicity:French inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/9829912/