9 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Evaluation of an amplicon-based custom gene panel for the diagnosis of hereditary tumors
    1
    1. ClingenBaseline 09 Nov 2026
      For instance, a patient identified with an SDHD gene mutation actually had von Hippel-Lindau (VHL) syndrome, as determined by the presence of a pathogenic VHL gene variant

      PatientID: 4

      KindredID: 4

      Case: F, 51Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Patient’s mother had duodenal carcinoid and her second son had pheochromocytoma.

      CasePresentingHPOs: (HP:0002666; HP:0030405; HP:0009713 (Pheochromocytoma; pancreatic endocrine tumor; spinal hemangioblastoma)

      CaseHPOFreeText: Patient presented with right pheochromocytoma at 23Y0M and left pheocromoctytoma at 32Y0M, pancreatic endocrine tumor at 32Y0M, and spinal cord hemangioblastoma was suspected.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: BRCA1, BRCA2, TP53, STK11, MLH1, MLH2, MLH6, PMS2, APC, MEN1, RET, NTRK1, PTEN, RB1, SDHD, SDHAF2, SDHC, SDHB, TSC1, TSC2 and WT1 (table 2)

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V166F (c.496G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2224, https://www.ncbi.nlm.nih.gov/clinvar/variation/2224/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: V166F (c.496G>T)

      MultipleGeneVariants: Germline, DHD, c.331G>A (p.Val111Ile); Germline, WT1, c.1249+7G>C (p.?)

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transversion Familial AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:spinalhemangioblastoma DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pheochromocytoma:23 AgeOfPresentation:pancreaticendocrinetumor:32 ClinVarID:Yes ClinVarID:2224 cDNAPosition:496 ProteinPosition:166 CivicName:V166F(c.496G>T) AminoAcidChange:VALtoPHE PreviousTesting:RET/SDHD/SDHC/SDHB/SDHAF2 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/32241160/
  3. www.e-enm.org www.e-enm.org
    Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population
    4
    1. ClingenBaseline 07 Nov 2026
      8 M/34 PGL VHL 1 c.308C>T (p.Pro103Leu) Post-NGS Targeted NGS LP Pancreas 4.2 Metastatic No Incidental Silent

      PatientID: 28

      KindredID: 28

      Case: M, 34Y0M, Korean

      DiseaseAssertion: Paraganglioma

      FamilyInfo: No information provided.

      CasePresentingHPOs: HP:0002668 (paraganglioma)

      CaseHPOFreeText: The patient presented with paraganglioma (see table 3).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, NF1, MAX, SDHA/SDHAF2/SDHB/SDHC/SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P103L (c.308C>T))

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 1488386, https://www.ncbi.nlm.nih.gov/clinvar/variation/1488386/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: P103L (c.308C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transition Ethnicity:Korean AssumedRefSeq:NM_000551.3 ClinVarID:Yes ClinVarID:1488386 DiseaseEntity:paraganglioma AgeOfPresentation:paraganglioma:34 CivicName:P103L(c.308C>T) cDNAPosition:308 ProteinPosition:103 AminoAcidChange:PROtoLEU PreviousTesting:RET/NF1/MAX/SDHA/SDHAF2/SDHB/SDHC/SDHD NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 07 Nov 2026
      5 F/11 PCC VHL 3 c.482G>A (p.Arg161Gln) Post-NGS Targeted NGS P Bilateral adrenal 2.0 Benign Yes Symptomatic Noradrenergic

      PatientID: 5

      KindredID: 5

      Case: F, 11Y0M, Korean

      DiseaseAssertion: Adrenal Pheochromocytoma

      FamilyInfo: No information provided.

      CasePresentingHPOs: HP:0006748 (adrenal pheochromocytoma)

      CaseHPOFreeText: The patient presented with adrenal pheochromocytoma (see table 3)

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, NF1, MAX, SDHA/SDHAF2/SDHB/SDHC/SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: 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

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transition AssumedRefSeq:NM_000551.3 DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:adrenalpheochromocytoma:11 PreviousTesting:RET/NF1/MAX/SDHA/SDHAF2/SDHB/SDHC/SDHD CivicName:R161Q(c.482G>A) cDNAPosition:482 ProteinPosition:161 AminoAcidChange:ARGtoGLN ClinVarID:182983 NoFamilyInfo Ethnicity:Korean ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    3. ClingenBaseline 05 Nov 2026
      7 F/40 PCC VHL 3 c.499C>T (p.Arg167Trp) Pre-NGS Sanger Rt adrenal 4.6 Benign No Hemangioblastoma of brainstem, pancreatic NET, RCC Incidental Noradrenergic

      PatientID: 7

      KindredID: 7

      Case: F, 40Y0M, Korean

      DiseaseAssertion: Assumed VHL

      FamilyInfo: No information provided.

      CasePresentingHPOs: HP:0006748; HP:0005584; HP:0030405; HP:0006880 (adrenal pheochromocytoma, renal cell carcinoma, pancreatic endocrine tumor, cerebellar hemangioblastoma)

      CaseHPOFreeText: The patient presented with adrenal pheochromocytoma. She also had other tumours, including renal cell carcinoma, pancreatic endocrine tumor, cerebellar hemangioblastoma (see table 3).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, NF1, MAX, SDHA/SDHAF2/SDHB/SDHC/SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: 0.000007954, http://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 Mutation:Germline MutationType:missense_variant;transition AssumedRefSeq:NM_000551.3 ClinVarID:Yes ClinVarID:2218 PreviousTesting:RET/NF1/MAX/SDHA/SDHAF2/SDHB/SDHC/SDHD NoFamilyInfo DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:renalcellcarcinoma DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:cerebellarhemangioblastoma AgeOfPresentation:adrenalpheochromocytoma:40 CivicName:R167W(c.499C>T) cDNAPosition:499 ProteinPosition:167 AminoAcidChange:ARGtoTRP Ethnicity:Korean inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    4. ClingenBaseline 04 Nov 2026
      8 F/49 PCC VHL 1 c.262T>C (p.Trp88Arg) Pre-NGS Sanger Bilateral adrenal Metastatic No RCC, hemangioblastoma of cerebellum Incidental Silent

      PatientID: 8

      KindredID: 8

      Case: F, 49Y0M, Korean

      DiseaseAssertion: Assumed VHL

      FamilyInfo: No information provided.

      CasePresentingHPOs: HP:0006748; HP:0005584; HP:0006880 (adrenal pheochromocytoma, renal cell carcinoma, cerebellar hemangioblastoma)

      CaseHPOFreeText: The patient presented with adrenal pheochromocytoma. She also had other tumours, including renal cell carcinoma and cerebellar hemangioblastoma (see table 3).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, NF1, MAX, SDHA/SDHAF2/SDHB/SDHC/SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.W88R (c.262T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 496053, https://www.ncbi.nlm.nih.gov/clinvar/variation/496053/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: W88R (c.262T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transition AssumedRefSeq:NM_000551.3 Ethnicity:Korean NoFamilyInfo PreviousTesting:RET/NF1/MAX/SDHA/SDHAF2/SDHB/SDHC/SDHD ClinVarID:Yes ClinVarID:496053 DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:cerebellarhemangioblastoma DiseaseEntity:renalcellcarcinoma AgeOfPresentation:adrenalpheochromocytoma:49 CivicName:W88R(c.262T>C) cDNAPosition:262 ProteinPosition:88 AminoAcidChange:TRPtoARG inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    e-enm.org/journal/view.php
  4. Nov 2026
  5. erc.bioscientifica.com erc.bioscientifica.com
    Genetics of pheochromocytoma and paraganglioma in Spanish pediatric patients
    1
    1. ClingenBaseline 02 Nov 2026
      1515, 17FbPCC, TA PGLHTN, sDMNENoNoVHLc.284C>Gbp.(Pro95Arg)No

      PatientID: 15

      KindredID: 1

      Case: F, 17Y0M, Spanish

      DiseaseAssertion: VHL

      FamilyInfo: None

      CohortInfo: 36 pediatric patients with pheochromocytomas and/or parangangliomas.

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

      CaseHPOFreeText: The patient was admitted due to hypertension and secondary diabetes mellitus. She was found to have a norepinephrine secreting bilateral pheochromocytoma at age 15 and a thoracic-abdominal paraganglioma at age 17.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127, MAX

      PreviouslyPublished: Yes source unknown.

      SupplementalData: N/A

      Variant: p.P95R (c.284C>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351750809 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.284C%3EG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: P95R (c.284C>G)

      MultipleGeneVariants: N/A

      MutationType:missense_variant;transversion InheritancePattern:AutosomalDominant Ethnicity:Spanish DiseaseEntity:VHL Mutation:Germline AssumedRefSeq:NM_000551.3 NonFamilial DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:15 DiseaseEntity:Paraganglioma AgeofPresentation:Paraganglioma:17 PreviousTesting:RET/SDHA/SDHB/SDHC/SDHD/SDHAF2/TMEM127/MAX cDNAposition:284 ProteinPosition:95 AminoAcidChange:PROtoARG CAID:CA351750809 ClinVarID:N/A inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    erc.bioscientifica.com/view/journals/erc/20/3/L1.xml
  6. Oct 2026
  7. www.e-enm.org www.e-enm.org
    Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population
    1
    1. ClingenBaseline 29 Oct 2026
      9 M/53 PCC VHL 1 c.208G>A (p.Glu70Lys) Pre-NGS Sanger Bilateral adrenal 3.5 Metastatic Yes Incidental Noradrenergic

      PatientID: 9

      KindredID: 9

      Case: M, 53Y0M, Korean

      DiseaseAssertion: Adrenal pheochromocytoma

      FamilyInfo: No information provided.

      CasePresentingHPOs: HP:0006748 (adrenal pheochromocytoma)

      CaseHPOFreeText: The patient presented with adrenal pheochromocytoma (see table 3).

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, NF1, MAX, SDHA/SDHAF2/SDHB/SDHC/SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.E70K (c.208G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 43598, https://www.ncbi.nlm.nih.gov/clinvar/variation/43598/

      CAID: N/A

      gnomAD: 0.000004365, https://gnomad.broadinstitute.org/variant/3-10183739-G-A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: E70K (c.208G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transition AssumedRefSeq:NM_000551.3 NoFamilyInfo Ethnicity:Korean DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:adrenalpheochromocytoma:53 ClinVarID:Yes ClinVarID:43598 PreviousTesting:RET/NF1/MAX/SDHA/SDHAF2/SDHB/SDHC/SDHD CivicName:E70K(c.208G>A) cDNAPosition:208 ProteinPosition:70 AminoAcidChange:GLUtoLYS inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    e-enm.org/journal/view.php
  8. erc.bioscientifica.com erc.bioscientifica.com
    Genetics of pheochromocytoma and paraganglioma in Spanish pediatric patients
    2
    1. ClingenBaseline 29 Oct 2026
      813MPCC–NENorA, cH (12 years)VHLc.500G>Abp.(Arg167Gln)

      PatientID: 8

      KindredID: 4

      Case: M, 13Y0M, Spanish

      DiseaseAssertion: VHL

      FamilyInfo: None

      CohortInfo: 36 pediatric patients with pheochromocytomas and/or parangangliomas.

      CasePresentingHPOs: HP:0002666, HP:0009711, HP:0006880 (pheochromocytoma, retinal capillary hemangioma, cerebellar hemangioblastoma)

      CaseHPOFreeText: The patient had a benign pheochromocytoma that was secreting norepinephrine at age 13. The patient had a retinal angioma and cerebellar hemangioma at age 12.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127, MAX

      PreviouslyPublished: Yes source unknown.

      SupplementalData: N/A

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVar: 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.500 G >A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant AssumedRefSeq:NM_000551.3 Mutation:Germline DiseaseEntity:pheochromocytoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:cerebellarhemangioblastoma AgeOfPresentation:pheochromocytoma:13 AgeOfPresentation:RetinalCapillaryHemangioma:12 AgeOfPresentation:cerebellarhemangioblastoma:12 NonFamilial PreviousTesting:RET/SDHA/SDHB/SDHC/SDHD/SDHAF2/TMEM127/MAX ClinVarID:2216 ClinVarID:Yes CivicName:R167Q(c.500G>A) cDNAposition:500 ProteinPosition:167 AminoAcidChange:ARGtoGLN MutationType:missense_variant;transition DiseaseEntity:VHL Ethnicity:Spanish inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
    2. ClingenBaseline 24 Oct 2026
      510, 17MbPCCLPNEYes (17 years/lung)NoVHLc.499C>T (de novo)bp.(Arg167Gln)No

      PatientID: 5

      KindredID: 7

      Case: M, 17Y0M, Spanish

      DiseaseAssertion: VHL

      FamilyInfo: No family history, assumed de-novo, but unclear if parents were tested to confirm de-novo assertion.

      CohortInfo: 36 pediatric patients with pheochromocytomas and/or parangangliomas.

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: The patient had a benign bilateral pheochromocytoma that was secreting norepinephrine at age 10. At age 17, the pheochromocytoma reoccured but this time was malignant and metastasized to the lungs.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127, MAX

      PreviouslyPublished: Yes source unknown.

      SupplementalData: N/A

      Variant: p.R167W (c.499C>T) *The authors of this paper have seemingly called the wrong protein change for this variant.

      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

      Mutation:Germline Ethnicity:Spanish DiseaseEntity:VHL PreviousTesting:RET/SDHA/SDHB/SDHC/SDHD/SDHAF2/TMEM127/MAX NonFamilial DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:10 AgeOfPresentation:pheochromocytoma:17 AssumedRefSeq:NM_000551.3 CivicName:R167W(c.499C>T) cDNAposition:499 ProteinPosition:167 AminoAcidChange:ARGtoTRP ClinVarID:2218 ClinVarID:Yes MutationType:missense_variant;transition InheritancePattern:DeNovoAssertion inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    erc.bioscientifica.com/view/journals/erc/20/3/L1.xml