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  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
    6
    1. ClingenBaseline 05 Nov 2026
      21F/35ASUnilateral PCCVHL3c.548C>G (Novel)p.(Ser183Trp)Substitution (missense)Disease causing

      PatientID: 21

      KindredID: 21

      Case: F, 35Y0M, Asian Indian

      DiseaseAssertion: pheochromocytoma

      FamilyInfo: None - apparently sporadic

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: unilateral pheochromocytoma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/ SDHB/ SDHD/ NF1

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.S183W (c.548C>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 219158 https://www.ncbi.nlm.nih.gov/clinvar/variation/219158/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: S183W (c.548C>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:pheochromocytoma AssumedRefSeq:NM_000551.3 cDNAposition:548 AminoAcidChange:SERtoTRP MutationType:missense_variant;transversion CivicName:S183W(c.548C>G) ClinVarID:219158 ClinVarID:Yes PreviousTesting:NF1/RET/SDHB/SDHD Ethnicity:SouthAsian Mutation:Germline NoFamilyInfo ProteinPosition:183 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 05 Nov 2026
      27F/26FSB/L PCC+sPGLPNETVHL3c.499C>Tp.(Arg167Trp)Substitution (missense)Disease causing

      PatientID: 27

      KindredID: 27

      Case: F, 26Y0M, Asian Indian

      DiseaseAssertion: Assumed VHL

      FamilyInfo: Positive family history

      CasePresentingHPOs: HP:0002666; HP:0002668; HP:0030405 (pheochromocytoma; paraganglioma; pancreatic endocrine tumor)

      CaseHPOFreeText: patient had bilateral pheochromocytoma and sympathetic paraganglioma; and PNETs

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/ SDHB/ SDHD/ NF1

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R167W (c.499C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2218 https://www.ncbi.nlm.nih.gov/clinvar/variation/2218/

      CAID: N/A

      gnomAD: 0.000007954 https://gnomad.broadinstitute.org/variant/3-10191506-C-T

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: R167W (c.499C>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:paraganglioma DiseaseEntity:pancreaticendocrinetumor AssumedRefSeq:NM_000551.3 Familial ClinVarID:Yes ClinVarID:2218 Ethnicity:SouthAsian Mutation:Germline PreviousTesting:NF1/RET/SDHB/SDHD MutationType:missense_variant;transition CivicName:R167W(c.499C>T) cDNAposition:499 ProteinPosition:167 AminoAcidChange:ARGtoTRP inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    3. 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
    4. ClingenBaseline 31 Oct 2026
      23F/45ASUnilateral PCCVHL1c.224_226delTCTp.(Phe76del)DeletionDisease causing

      PatientID: 23

      KindredID: 23

      Case: F, 45Y0M, Asian Indian

      DiseaseAssertion: pheochromocytoma

      FamilyInfo: None - apparently sporadic

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: unilateral pheochromocytoma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/ SDHB/ SDHD/ NF1

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.F76del (c.224_226delTCT)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA357012 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.224_226delTCT

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_deletion

      CivicName: F76del (c.224_226delTCT)

      MultipleGeneVariants: N/A

      DiseaseEntity:pheochromocytoma AssumedRefSeq:NM_000551.3 CivicName:F76del(c.224_226delTCT) cDNAposition:224 ProteinPosition:76 MutationType:inframe_deletion CAID:CA357012 ClinVarID:N/A PreviousTesting:NF1/RET/SDHB/SDHD Ethnicity:SouthAsian Mutation:Germline NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    5. ClingenBaseline 30 Oct 2026
      16F/20FSB/L PCCFamily history+VHL3c.482G>Ap.(Arg161Gln)Substitution (missense)Disease causing

      PatientID: 16

      KindredID: 16

      Case: F, 20Y0M, Asian Indian

      DiseaseAssertion: pheochromocytoma

      FamilyInfo: positive family history

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: bilateral pheochromocytoma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/ SDHB/ SDHD/ NF1

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161Q (c.482G>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 182983 https://www.ncbi.nlm.nih.gov/clinvar/variation/182983/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: R161Q (c.482G>A)

      MultipleGeneVariants: N/A

      DiseaseEntity:pheochromocytoma AssumedRefSeq:NM_000551.3 CivicName:R161Q(c.482G>A) cDNAposition:482 ProteinPosition:161 AminoAcidChange:ARGtoGLN MutationType:missense_variant;transition ClinVarID:182983 ClinVarID:Yes PreviousTesting:NF1/RET/SDHB/SDHD Ethnicity:SouthAsian Mutation:Germline Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    6. ClingenBaseline 30 Oct 2026
      17F/6FSUnilateral PCCFamily history+VHL3c.482G>Ap.(Arg161Gln)Substitution (missense)Disease causing

      PatientID: 17

      KindredID: 17

      Case: F, 6Y0M, Asian Indian

      DiseaseAssertion: pheochromocytoma

      FamilyInfo: positive family history

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: unilateral pheochromocytoma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/ SDHB/ SDHD/ NF1

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161Q (c.482G>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 182983 https://www.ncbi.nlm.nih.gov/clinvar/variation/182983/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: R161Q (c.482G>A)

      MultipleGeneVariants: N/A

      DiseaseEntity:pheochromocytoma AssumedRefSeq:NM_000551.3 CivicName:R161Q(c.482G>A) cDNAposition:482 ProteinPosition:161 AminoAcidChange:ARGtoGLN MutationType:missense_variant;transition ClinVarID:182983 ClinVarID:Yes Familial 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. ascopubs.org ascopubs.org
    Genetic Testing in Pheochromocytoma or Functional Paraganglioma | Journal of Clinical Oncology
    1
    1. ClingenBaseline 30 Oct 2026
      missense

      GroupID: 2

      Case: Age, Sex, Ethnicity unknown

      DiseaseAssertion: Neuroendocrine neoplasm (pheochromocytoma or paraganglioma)

      FamilyInfo: This mutation (p.G93D (c.278G>A)) was found in a patient with a family history and/or a syndromic presentation.

      CasePresentingHPOs: HP:0100634 (Neuroendocrine neoplasm)

      CaseHPOFreeText: Patients with a pheochromocytoma or a functional paraganglioma were recruited from several different French clinical centers participating in several clinical research networks (Cortico et Medullosurrènale: les Tumeurs Endocrines, Paragan-Glioma Network, Groupe des Tumeurs Endocrines)

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, NF1, SDHB/SDHC/SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G93D (c.278G>A)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 496054 https://www.ncbi.nlm.nih.gov/clinvar/variation/496054/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: G93D (c.278G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:neuroendocrineneoplasm Mutation:Germline RefSeq:NM_000551.2 CivicName:G93D(c.278G>A) ProteinPosition:93 AminoAcidChange:GLYtoASP cDNAposition:278 MutationType:missense_variant;transition Familial ClinVarID:496054 ClinVarID:Yes PreviousTesting:NF1 PreviousTesting:RET PreviousTesting:SDHB PreviousTesting:SDHC PreviousTesting:SDHD inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ascopubs.org/doi/10.1200/JCO.2005.03.1484
  4. Oct 2026
  5. eje.bioscientifica.com eje.bioscientifica.com
    Germline mutations and genotype–phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma
    2
    1. 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
    2. ClingenBaseline 28 Oct 2026
      15M/12FSUnilateral PCC+sPGLRenal and pancreatic cystsFamily history+VHL1c.293A>C (Novel)p.(Tyr98Ser)Substitution (missense)Disease causing

      PatientID: 15

      KindredID: 15

      Case: M, 12Y0M, Asian Indian

      DiseaseAssertion: assumed VHL

      FamilyInfo: Positive family history

      CasePresentingHPOs: HP:0002666; HP:0002668; HP:0000107; HP:0001737 (pheochromocytoma; paraganglioma; renal cyst; pancreatic cysts)

      CaseHPOFreeText: unilateral pheochromocytoma with sympathetic paraganglioma. Renal and pancreatic cysts

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/ SDHB/ SDHD/ NF1

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y98S (c.293A>C)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 219160 https://www.ncbi.nlm.nih.gov/clinvar/variation/219160/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: Y98S (c.293A>C)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:paraganglioma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts CivicName:Y98S(c.293A>C) cDNAposition:293 ProteinPosition:98 AminoAcidChange:TYRtoSER MutationType:missense_variant;transversion ClinVarID:219160 ClinVarID:Yes PreviousTesting:NF1/RET/SDHB/SDHD Ethnicity:SouthAsian Mutation:Germline Familial AssumedRefSeq:NM_000551.3 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
  6. ascopubs.org ascopubs.org
    Genetic Testing in Pheochromocytoma or Functional Paraganglioma | Journal of Clinical Oncology
    1
    1. ClingenBaseline 26 Oct 2026
      Arg167Trp

      GroupID: 9

      DiseaseAssertion: Neuroendocrine neoplasm (pheochromocytoma or paraganglioma)

      GroupSize: 3

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: Ethnicity unknown

      GroupAgeRange: N/A

      GroupInfo: This mutation (p.R167W (c.499C>T)) was found in 3 patients, 2 with a family history and/or a syndromic presentation, and 1 patient with an apparently sporadic presentation.

      GroupPresentingHPOs: HP:0100634 (Neuroendocrine neoplasm)

      GroupHPOFreeText: Patients with a pheochromocytoma or a functional paraganglioma were recruited from several different French clinical centers participating in several clinical research networks (Cortico et Medullosurrènale: les Tumeurs Endocrines, Paragan-Glioma Network, Groupe des Tumeurs Endocrines)

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: RET, NF1, SDHB/SDHC/SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R167W (c.499C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2218 https://www.ncbi.nlm.nih.gov/clinvar/variation/2218/

      CAID: N/A

      gnomAD: 0.000007954 https://gnomad.broadinstitute.org/variant/3-10191506-C-T

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: R167W (c.499C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:neuroendocrineneoplasm Mutation:Germline RefSeq:NM_000551.2 CivicName:R167W(c.499C>T) cDNAposition:499 ProteinPosition:167 AminoAcidChange:ARGtoTRP MutationType:missense_variant;transition Familial ClinVarID:2218 ClinVarID:Yes PreviousTesting:RET PreviousTesting:SDHB PreviousTesting:SDHC PreviousTesting:SDHD PreviousTesting:NF1 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ascopubs.org/doi/10.1200/JCO.2005.03.1484