6 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
    4
    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 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
    3. 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
    4. 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. Oct 2026
  4. 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