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    Germline mutations and genotype–phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma
    2
    1. ClingenBaseline 21 Oct 2026
      14F/11ASB/L PCC+sPGLVHL3c.500G>Ap.(Arg167Gln)Substitution (missense)Disease causingProbably damaging score 1.000DamagingNRNR

      PatientID: 14

      KindredID: 14

      Case: F, 11Y0M, Asian Indian

      DiseaseAssertion: assumed VHL

      FamilyInfo: None - Apparently sporadic

      CasePresentingHPOs: HP:0002666; HP:0002668 (pheochromocytoma, paraganglioma)

      CaseHPOFreeText: Bilateral pheochromocytoma and sympathetic PGL

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/ SDHB/ SDHD/ NF1

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R167Q (c.500G>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2216 https://www.ncbi.nlm.nih.gov/clinvar/variation/2216/

      CAID: N/A

      gnomAD: 0.000003977 https://gnomad.broadinstitute.org/variant/3-10191507-G-A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: R167Q (c.500G>A)

      MultipleGeneVariants: N/A

      DiseaseEntity:paraganglioma DiseaseEntity:VHL DiseaseEntity:pheochromocytoma AssumedRefSeq:NM_000551.3 CivicName:R167Q(c.500G>A) cDNAposition:500 ProteinPosition:167 AminoAcidChange:ARGtoGLN MutationType:missense_variant;transition ClinVarID:2216 MutationType:missense_variant;transversion PreviousTesting:RET PreviousTesting:SDHB PreviousTesting:SDHD Mutation:Germline ClinVarID:Yes Ethnicity:SouthAsian NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 21 Oct 2026
      14F/11ASB/L PCC+sPGLVHL3c.500G>Ap.(Arg167Gln)Substitution (missense)Disease causingProbably damaging score 1.000DamagingNRNR

      PatientID: 14

      KindredID: 14

      Case: F, 11Y0M, Asian Indian

      DiseaseAssertion: assumed VHL

      FamilyInfo: None - Apparently sporadic

      CasePresentingHPOs: HP:0002666; HP:0002668 (pheochromocytoma, paraganglioma)

      CaseHPOFreeText: Bilateral pheochromocytoma and sympathetic PGL

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/ SDHB/ SDHD/ NF1

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R167Q (c.500G>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2216 https://www.ncbi.nlm.nih.gov/clinvar/variation/2216/

      CAID: N/A

      gnomAD: 0.000003977 https://gnomad.broadinstitute.org/variant/3-10191507-G-A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: R167Q (c.500G>A)

      MultipleGeneVariants: N/A

      DiseaseEntity:paraganglioma DiseaseEntity:VHL DiseaseEntity:pheochromocytoma AssumedRefSeq:NM_000551.3 CivicName:R167Q(c.500G>A) cDNAposition:500 ProteinPosition:167 AminoAcidChange:ARGtoGLN MutationType:missense_variant;transition ClinVarID:2216 MutationType:missense_variant;transversion PreviousTesting:RET PreviousTesting:SDHB PreviousTesting:SDHD Mutation:Germline ClinVarID:Yes Ethnicity:SouthAsian NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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