1. Last 7 days
  2. link.springer.com link.springer.com
    Exploratory Evaluation of Mirabegron-Associated Changes in Bladder Remodeling and Cell-Death-Related Markers in a Rat Model of Bladder Outlet Obstruction
    5
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    link.springer.com/article/10.1007/s00192-026-06941-9
  3. link.springer.com link.springer.com
    Chemo-Optogenetic Control of Protein Activities in Living Cells Using Photoswitchable Molecular Glues
    5
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    link.springer.com/protocol/10.1007/978-1-0716-5687-7_15
  4. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Early Tracheal and Salivary miRNAs in Extremely Preterm Infants Predict Bronchopulmonary Dysplasia‐Related Pulmonary Hypertension
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13711353/
  5. bpspubs.onlinelibrary.wiley.com bpspubs.onlinelibrary.wiley.com
    BPS Publications
    1
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    bpspubs.onlinelibrary.wiley.com/doi/10.1002/prp2.70332
  6. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Ursodeoxycholic Acid Confers Neuroprotection in Rats With Acute Cervical SCI and Attenuates NLRP3/Caspase‐1/GSDMD Pyroptotic Signaling
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13717287/
  7. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Stemonine Alleviates UVB‐Induced Keratinocyte Senescence by Activating SIRT3
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13718312/
  8. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Brain PDGFRβ + Cells Exhibit Diverse Reactive Phenotypes After Stroke Without Requiring KLF4
    7
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    pmc.ncbi.nlm.nih.gov/articles/PMC13723038/
  9. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Assessing the Mutational Consequences of Chronic Arsenic Exposure Using Patient-Derived Tumor Samples and In Vitro Systems
    1
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    onlinelibrary.wiley.com/doi/10.1002/em.70079
  10. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Selective AUTAC‐mediated ATP7B degradation unlocks cuproptosis vulnerability in pancreatic ductal adenocarcinoma
    3
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    pmc.ncbi.nlm.nih.gov/articles/PMC13714097/
  11. currentprotocols.onlinelibrary.wiley.com currentprotocols.onlinelibrary.wiley.com
    Quantitative Multiplexed Rapid Immunoprecipitation and Mass Spectrometry of Endogenous Proteins (qPLEX-RIME) in Cell Lines
    2
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    currentprotocols.onlinelibrary.wiley.com/doi/10.1002/cpz1.70494
  12. onlinelibrary.wiley.com onlinelibrary.wiley.com
    A Species-Dependent Spatial Patterning of FOXP1 and nNOS Protein Expression in the Adult Mammalian Subthalamic Nucleus
    3
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    onlinelibrary.wiley.com/doi/10.1002/cne.70219
  13. chemistry-europe.onlinelibrary.wiley.com chemistry-europe.onlinelibrary.wiley.com
    Synthesis and Biological Evaluation of 5-Arylpyrazoles as Potential MCT 1 Inhibitors Targeting Lactate Transport
    8
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    chemistry-europe.onlinelibrary.wiley.com/doi/full/10.1002/cmdc.70555
  14. chemistry-europe.onlinelibrary.wiley.com chemistry-europe.onlinelibrary.wiley.com
    Development of Trivalent BRD4 PROTACs: Advancing Targeted Protein Degradation Strategies
    1
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    chemistry-europe.onlinelibrary.wiley.com/doi/full/10.1002/cmdc.70536
  15. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Integration of Chemical Probes and Degradomics Reveals That Cathepsin B Functions Primarily as a Dipeptidyl Carboxypeptidase in Macrophages
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13719178/
  16. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Integrated single-cell transcriptomics reveals miR-941 targets CLDN4 to inhibit malignant progression of thyroid cancer through the PI3K/AKT signaling pathway
    1
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    onlinelibrary.wiley.com/doi/full/10.1002/ccs3.70123
  17. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Systems-level phosphoproteomics reveals calcium/calmodulin-dependent protein kinase kinase 2-driven kinase signaling underlying malignant phenotypes in gastric cancer
    1
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    onlinelibrary.wiley.com/doi/10.1002/ccs3.70112
  18. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Photodynamic and Cytotoxic Evaluation of <i>Euphorbia anacampseros</i> Methanolic Extract: Chemical Characterization, Molecular Docking, and Light‐Activated Anticancer Activity
    4
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    onlinelibrary.wiley.com/doi/10.1002/cbdv.71897
  19. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Previously Undescribed Esters and an Alkaloid From <i>Trollius chinensis</i> With Anti‐Inflammatory and Cytotoxic Activities
    4
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    onlinelibrary.wiley.com/doi/10.1002/cbdv.71887
  20. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Comparison of Chemical Components, Anti-Inflammatory Effect and Cytotoxicity to Cancer Cells of Essential Oils From Different Parts of Celosia argentea
    4
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    onlinelibrary.wiley.com/doi/10.1002/cbdv.71885
  21. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Essential Oils of <i>Argyreia capitiformis</i> (Poir.) Ooststr. and <i>Argyreia nasirii</i> D.F. Austin: Chemical Analysis and Biological Activities
    4
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    onlinelibrary.wiley.com/doi/10.1002/cbdv.71880
  22. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Isolation, Structural Elucidation, and Anti-Melanogenic Activity of a Novel Pectic Polysaccharide From Alhagi camelorum Fisch
    1
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    onlinelibrary.wiley.com/doi/10.1002/cbdv.71878
  23. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Phytochemical Profiling and Anticancer Potential of <i>Ipomoea hederifolia</i> L. Root Extract: LC–MS Characterization and Molecular Docking Insights
    1
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    onlinelibrary.wiley.com/doi/10.1002/cbdv.71876
  24. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Integrated Metabolomics and Network Pharmacology Reveal Anti-Aging and Anti-MRSA Activities of Cucumis melo Var. flexuosus
    1
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    onlinelibrary.wiley.com/doi/10.1002/cbdv.71874
  25. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Tricin‐Loaded Liposomes as a Passive Targeting Nanodelivery System for Enhanced Gastric Cancer Therapy
    2
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    pmc.ncbi.nlm.nih.gov/articles/PMC13714443/
  26. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Quinoxaline–Triazole Hybrids: Exploring the Impact of Substituent Architecture on Cytotoxic Potency and Receptor Interaction
    3
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    onlinelibrary.wiley.com/doi/10.1002/cbdv.71770
  27. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Engineering Rapid Payload Release Rate in 1,6-Elimination Processes of Self-Immolative Linkers
    1
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    onlinelibrary.wiley.com/doi/10.1002/anie.9775095
  28. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    ARRDC4 drives Tau pathology via USP14‐mediated deubiquitination and acts as a novel therapeutic target in Alzheimer's disease
    6
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    pmc.ncbi.nlm.nih.gov/articles/PMC13719805/
  29. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A Mechanistic Dissection of Multifaceted Complement Attack in Age‐Related Macular Degeneration Reveals the Superiority of C3 Inhibition
    2
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    pmc.ncbi.nlm.nih.gov/articles/PMC13715677/
  30. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Adaptive Cellular Responsiveness to Electrical Stimulation at the Skin‐Electrode Interface
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13712396/
  31. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    BRCA1 Mutation‐Recognizing Tetrahedral Framework Nucleic Acid Nanoplatform Enables Coordinated PARP/WEE1 Inhibition and STING‐Associated Antitumor Immunity in Ovarian Cancer
    14
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    pmc.ncbi.nlm.nih.gov/articles/PMC13717119/
  32. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    ACROMEGALY AND MYBPC3 MUTATION: A SYNERGISTIC IMPACT ON CARDIOMYOPATHY DEVELOPMENT
    2
    2. ClingenBaseline 05 Nov 2026
      A male patient aged 42

      Case1: 42 year old Male

      DiseaseAssertion: History of acromegaly

      FamilyInfo: N/A

      ParentalTesting: No parental testing done

      CasePresentingHPOs: “elevated levels of growth hormone, and IGF-1”

      CaseHPOFreeText: Genetic analysis revealed a heterozygous nonsense variant in MYBPC3

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: Cardiac MRI revealed normal dimensions of thoracic aorta, no evidence of stenosis or aneurysms

      CasePreviousTesting: An oral glucose tolerance test was performed, growth hormone failed to suppress below 0.88

      Genotyping Method: Echocardiography used to confirm enlarged left atrium, increased septal thickness, mild mitral and tricuspid regurgitation

      Variant: NM_000256.3 c.3408C>G MANE select

      ClinVar: 851340

      CAID: CA380313523

      gnomAD: chr11-47332896

      https://www.ncbi.nlm.nih.gov/clinvar/variation/851340/?term=%22c.3408C%3EG%22%5BVARNAME%5D+AND+%22MYBPC3%22%5BGENE%5D

      inferred_gene_hgnc:7551 inferred_gene_source:CAID Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC13450663/
  33. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Phosphate‐Engineered DNA Reporters Boost CRISPR‐Cas12a Trans‐Cleavage for Rapid and Sensitive Nucleic Acid Detection
    3
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    pmc.ncbi.nlm.nih.gov/articles/PMC13696524/
  34. advanced.onlinelibrary.wiley.com advanced.onlinelibrary.wiley.com
    Plasma Membrane Lipid Asymmetry Dynamically Regulates Passive Diffusion
    14
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    advanced.onlinelibrary.wiley.com/doi/full/10.1002/advs.78435
  35. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Functional annotation of TNNT2 variants of uncertain significance with genome-edited cardiomyocytes
    2
    2. ClingenBaseline 05 Nov 2026
      A 65-year-old woman with severe hypertrophic cardiomyopathy underwent gene panel testing that identified a single variant, TNNT2 E251D

      Case#:A 65-year-old woman with severe hypertrophic cardiomyopathy

      DiseaseAssertion:Severe hypertrophic cardiomyopathy

      FamilyInfo:no information reported

      ParentalTesting:no parental testing reported

      CasePresentingHPOs:HP:0001639

      CaseHPOFreeText: gene panel testing that identified a single variant

      CaseNotHPOs: not found

      CaseNotHPOFreeText: not found

      CasePreviousTesting: gene panel testing that identified a single variant

      Genotyping Method:clinical gene panel testing

      FunctionalAnalysis: rapid insertion of TNNT2 gene variants into induced pluripotent stem cell-differentiated cardiomyocytes (iPSC-CMs) for functional annotation of the variants for (E251D)(Figure B)

      Variant:c.753G>T (p.Glu251Asp)

      ClinVar:not found

      CAID:CA090003

      gnomAD:not found

      AdditionalInfo:not reported

      Gene:TNNT2 HGNC ID:11949 InheritancePattern:NoInheritanceAssertion DiseaseEntity:HCM Variant:Missense Zygosity:NoZygosityAssertion CAID:CA090003 inferred_gene_hgnc:11949 inferred_gene_source:HGNC_body Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC6309910/
  36. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Novel α‐Actin Gene Mutation p.(Ala21Val) Causing Familial Hypertrophic Cardiomyopathy, Myocardial Noncompaction, and Transmural Crypts. Clinical‐Pathologic Correlation
    1
    1. ClingenBaseline 05 Nov 2026
      4 aged 10 (II‐1), 14 (II‐2), 43 (I‐4) and 46 years (I‐5),

      Case#: 1. Patient II-4 43 years

      DiseaseAssertion: Hypertrophic cardiomyopathy and left ventricular noncompaction

      FamilyInfo: Several family members have heart disease. One relative died from cardiac arrest at age 50.

      ParentalTesting: NR

      CasePresentingHPOs: NR

      CaseHPOFreeText: The patient had thickened heart muscle, abnormal heartbeats, and extra ridges and deep spaces in the heart muscle.

      CaseNotHPOs: NR

      CaseNotHPOFreeText: NR

      CasePreviousTesting: ECG, heart monitoring, heart ultrasound, and genetic testing

      Genotyping Method: Next- generation sequencing and sanger sequencing

      FunctionalAnalysis: computer testing suggested the ACTC1 gene change could weaken the protein

      Variant: NM_005159.4:c.62C>T

      Clinvar: 410264

      CAID: CA16614451

      gnomAD: NR

      AdditionalInfo: His heart pumping ability was 55%. This article reported changes in his heart muscle cells.

      Case#: 2 Patient II-5 46 years old

      DiseaseAssertion: HCM and LVNC

      FamilyInfo: Several family members have heart disease. One relative died from cardiac arrest at age 50.

      ParentalTesting: NR

      CasePresentingHPOs: NR

      CaseHPOFreeText: The patient had thickened and enlarged heart muscle, abnormal heartbeats, and deep spaces in his heart muscle. He als had temporary episodes of reduced blood flow to the brain.

      CaseNotHPOs: NR

      CaseNotHPOFreeText: NR

      CasePreviousTesting: ECG, heart monitoring, heart ultrasound, heart MRI, heart biopsy and genetic testing

      Genotyping Method: NGS and sanger sequencing

      FunctionalAnalysis:computer testing suggested the ACTC1 gene change could weaken the protein.

      Variant: NM_005159.4:c.62C>T

      Clinvar: 410264

      CAID: CA16614451

      gnomAD: NR

      AdditionalInfo: His heart pumping ability was 30%. He received a defibrillator and was considered for a heat transplant. He also had a second gene change in TTN.

      Case#: 3 Patient II-1 10 years

      DiseaseAssertion: left ventricular noncompaction

      FamilyInfo: Several family members have heart disease. One relative died from cardiac arrest at age 50.

      ParentalTesting: NR

      CasePresentingHPOs: NR

      CaseHPOFreeText: The patient had extra ridges and deep spaces in his heart muscle. His ECG also showed changes in his heart's electrical activity.

      CaseNotHPOs: NR

      CaseNotHPOFreeText: Normal heart muscle thickness and normal heart pumping ability.

      CasePreviousTesting: ECG, heart monitoring, heart ultrasound, heart biopsy and genetic testing

      Genotyping Method: NGS and sanger sequencing

      FunctionalAnalysis:computer testing suggested the ACTC1 gene change could weaken the protein.

      Variant: NM_005159.4:c.62C>T

      Clinvar: 410264

      CAID: CA16614451

      gnomAD: NR

      AdditionalInfo: His heart pumping ability was 63%.He received medication and remained stable during follow up.

      Case#: 4 Patient III-2 14 years

      DiseaseAssertion: HCM and LVNC

      FamilyInfo: Several family members have heart disease. One relative died from cardiac arrest at age 50.

      ParentalTesting: NR

      CasePresentingHPOs: NR

      CaseHPOFreeText: The patient had thickened heart muscle extra ridges and deep spaces in his heart, and episodes of fast or abnormal hearbeats.

      CaseNotHPOs: NR

      CaseNotHPOFreeText: Heart MRI did not show sign of heart muscle scarring

      CasePreviousTesting: ECG, heart monitoring, heart ultrasound, heart biopsy and genetic testing

      Genotyping Method: NGS and sanger sequencing

      FunctionalAnalysis:computer testing suggested the ACTC1 gene change could weaken the protein.

      Variant: NM_005159.4:c.62C>T

      Clinvar: 410264

      CAID: CA16614451

      gnomAD: NR

      AdditionalInfo: His heart pumping ability was 60%.He received medication and remained stable during follow up.

      CaseInfo Gene:ACTC1 DiseaseEntity:HCM DiseaseEntity:LVNC InheritancePattern:AutosomalDominant Variant:Missense Zygosity:Heterozygous FamilyInfo ClinVarID:410264 CAID:CA16614451 inferred_gene_hgnc:143 inferred_gene_source:Gene_Name Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC5850207/
  37. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A TNNT2 variant in a sporadic case of dilated cardiomyopathy: a case report and review
    2
    2. ClingenBaseline 05 Nov 2026
      A 41-year-old male proband diagnosed with DCM underwent comprehensive clinical evaluation.

      Case#:male, 41, DCM

      DiseaseAssertion:dilated cardiomyopathy

      FamilyInfo:The proband reported that his mother died suddenly at approximately 35 years of age (specific cause unknown). Other family members were healthy with no history of cardiac disease. Written informed consent was obtained from all participants.

      ParentalTesting:no parental testing reported. Sanger sequencing of available family members (daughter, half-brother, maternal uncle and maternal aunt) confirmed that none carried the variant, supporting its de novo origin

      CasePresentingHPOs:HP:0002875, HP:0001644, HP:4000141, HP:6000313

      CaseHPOFreeText: ECG showed sinus bradycardia, occasional atrial premature beats, delayed atrioventricular conduction, left atrial enlargement, left ventricular high voltage, incomplete right bundle branch block, and ST-T changes (Figure 1C). CMR revealed late gadolinium enhancement (LGE) in the basal to mid-septal and anterolateral segments of the left ventricle (Figure 1D).

      CaseNotHPOs:HP:0000822, HP:0003077

      CaseNotHPOFreeText:He denied a history of hyperlipidemia, hypertension, or substance abuse.

      CasePreviousTesting:No reports of previous testing

      Genotyping Method:whole-exome sequencing and Sanger sequencing

      FunctionalAnalysis:not reported

      Variant:c.547C>T p.Arg183Trp

      ClinVar:43628

      CAID:CA004294

      gnomAD:Overall allele frequency: 0.000001239

      AdditionalInfo:not reported

      Gene:TNNT2 HGNC ID:11949 InheritancePattern:DeNovoAssertion DiseaseEntity:DCM Variant:Missense Zygosity:Heterozygous CAID:CA004294 inferred_gene_hgnc:11949 inferred_gene_source:HGNC_body Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC13061692/
  38. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13631086/
  39. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Combined Immune‐Peptide Nanofiber with HSP70/AKT/mTOR Axis Blockade Enhances Photothermal Immunotherapy, Inhibiting Tumor Growth and Recurrence
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13696528/
  40. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene
    3
    1. ClingenBaseline 05 Nov 2026
      This was a boy

      Case2: Full term male

      DiseaseAssertion: poor feeding, respiratory distress, and cyanosis

      FamilyInfo: Healthy non‐consanguineous parents. Positive for HCM on the mother's side: the maternal grandfather died from HCM at the age of 52 years, and a brother of the maternal grandfather was also affected. The parents and siblings of the patient showed no abnormalities on cardiological examination.

      ParentalTesting:

      CasePresentingHPOs: HP:0001714, HP:0011623, HP:0010438

      CaseHPOFreeText: On cardiac catheterisation, both ventricles were found to be hypertrophic. There was mild shunting at the level of the foramen ovale. The pressures in the right ventricle and pulmonary artery were pathologically high, while the pressures in the left atrium and ventricle were normal (though with high A waves). There was a total left to right shunt of 43% of the pulmonary circulation, partly caused by a low muscular ventricular septal defect.

      CaseNotHPOs: NR

      CaseNotHPOFreeText: NR

      CasePreviousTesting: NR

      Genotyping Method: NR

      FunctionalAnalysis: NR

      Variant: NM_001242672.3(TTC34):c.2827C>T (p.Arg943Trp)

      ClinVar: 3329883

      CAID: NR

      gnomAD: 1-2573220-G-A

      AdditionalInfo: NR

      DiseaseEntity:HCM Zygosity:Heterozygous ClinVarID:3329883 UnregisteredVariant FamilyInfo inferred_gene_hgnc:34297 inferred_gene_source:ClinVar Cardiomyopathy Annotation
    2. ClingenBaseline 05 Nov 2026
      A full term girl

      Case1: gestational age 40 weeks female

      DiseaseAssertion: Poor feeding, cyanosis, and difficulty with breathing.

      FamilyInfo: Healthy non‐consanguineous parents. Echocardiographic in the mother and sister were normal. Father had mild dilatation of the left atrium with an abnormal flow pattern in the mitral valve, otherwise healthy.

      ParentalTesting: c.2373_2374insG mutation found in the mother

      CasePresentingHPOs:HP:0025169,

      CaseHPOFreeText: hypertrophic non‐obstructive cardiomyopathy with poor left and right ventricular systolic function. The left ventricular end diastolic diameter measured 17.3 mm (99% of normal), end systolic diameter 12.9 mm (116% of normal), and left ventricular posterior wall 3.6 mm (111% of normal). The intraventricular septum measured 11.8 mm (288% of normal). The shortening fraction of the left ventricle was decreased to 25%. Multiple abnormal small communications with a minimal flow between a coronary artery and the right ventricle were observed in the apical portion of the interventricular septum. There were no structural congenital heart defects.

      CaseNotHPOs: NR

      CaseNotHPOFreeText: NR

      CasePreviousTesting: NR

      Genotyping Method:

      FunctionalAnalysis: NR

      Variant: NM_006073.4(TRDN):c.1624+1G>A

      ClinVar:2152664

      CAID: CA147231745

      gnomAD:NR

      AdditionalInfo:NR

      Gene:MYBPC3 HGNC:7551 InheritancePattern:NoInheritanceAssertion DiseaseEntity:HCM Zygosity:Heterozygous ClinVarID:2152664 CAID:CA147231745 FamilyInfo inferred_gene_hgnc:7551 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC2563166/
  41. advanced.onlinelibrary.wiley.com advanced.onlinelibrary.wiley.com
    The VCPIP1-UBE3A Deubiquitination-Ubiquitination Cascade Contributes to Castration-Resistant Prostate Cancer Progression
    24
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    advanced.onlinelibrary.wiley.com/doi/full/10.1002/advs.78433
  42. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Case Report: Genomic and clinical insights into MYBPC3-related hypertrophic cardiomyopathy in Ecuadorian patients: implications for sudden cardiac death risk
    1
    1. ClingenBaseline 05 Nov 2026
      A 44-year-old male

      Case3: Male, 44,57,17, 2 Native American, European, Guaranda, Zaruma, Ibarra

      DiseaseAssertion: asymmetric septal hypertrophy, dynamic left ventricular outflow tract obstruction, HCM, fatigue and presyncope

      FamilyInfo: family history included parental hypertension and cancer, Relatives had cardiovascular conditions, including a paternal uncle with myocardial infarction at 58, another with a heart murmur, and a grandmother with hypertension

      ParentalTesting: Family history of first degree relatives with myocardial infarction

      CasePresentingHPOs: HP: 000256.3, HP: 033118.3, HP:000540.2 “Gene encodes the cardiac isoform of myosin-binding, Gene encodes an enzyme that is expressed in adult skeletal muscle, gene encodes a ryanodine receptor found in skeletal muscle”

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP: 004168.3, HP: 000384.2, HP: 020433.4

      CaseNotHPOFreeText: “Mutations in gene are linked to Leigh syndrome, mutations to gene are linked to diseases affecting plasma cholesterol, gene encodes a protein to mediate cross talk between cell surface and intracellular ion channels”

      CasePreviousTesting: TruSight Cardio panel for inherited cardiac disorders

      Genotyping Method: Next-generation sequencing (NGS)

      FunctionalAnalysis: N/A

      Variant: NM_000256.3 c.772G>A MANE select

      ClinVar: 42792

      CAID: CA015823

      gnomAD: 0.00003

      https://www.ncbi.nlm.nih.gov/clinvar/variation/42792/?term=%22p.Glu258Lys%22%5BVARNAME%5D+AND+%22MYBPC3%22%5BGENE%5D

      inferred_gene_hgnc:7551 inferred_gene_source:CAID Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC12868290/
  43. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Right coronary artery originated from left coronary sinus associated with children hypertrophic cardiomyopathy: report of two cases and literature review
    2
    1. ClingenBaseline 05 Nov 2026
      two children with HCM

      Case2: 12 year old Male, 9 month old Female

      Disease Assertion:Double atrial and right ventricular hypertrophy, intermittent chest pain and left ventricular hypertrophy

      FamilyInfo: No family history of sudden cardiac death, HCM, or coronary artery disease, granduncle had HCM history and died at 67

      ParentalTesting: Heterozygous mutation myosin binding protein C gene(MYBPC3) is confirmed in mother

      CasePresentingHPOs: “enlarged left and right atria, double ventricular hypertrophy, interventricular septal thickness”

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: TruSight Cardio panel for inherited cardiac disorders

      Genotyping Method: Sanger sequencing

      FunctionalAnalysis: N/A

      Variant: TNN c.50171G>T, NM_000256.3 c.2459G>A MANE select

      ClinVar: 8617

      CAID: CA012326

      gnomAD: chr11-47337534

      https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA012326&

      inferred_gene_hgnc:7551 inferred_gene_source:CAID Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC12917601/
  44. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A case report of a Chinese patient with obstructive hypertrophic cardiomyopathy harboring rare variants in both the MYBPC3 and DSP genes
    2
    2. ClingenBaseline 05 Nov 2026
      The proband was a 40-year-old male

      Case1: 40-year-old Chinese male

      DiseaseAssertion: exertional dyspnea for one year and substernal chest pain for one week.

      FamilyInfo: Father experienced sudden cardiac death (SCD) at the age of 41. Targeted region capture and second-generation high throughput sequencing were performed on the proband’s cousin, cousin sister, and sister. Results demonstrated that all family members carried the MYBPC3 c.1827dupC variant. Pedigree in Fig. 3

      ParentalTesting: NR

      CasePresentingHPOs: HP:0025169, HP:0025168, HP:0031675, HP:0001714,

      CaseHPOFreeText: harsh systolic ejection murmur at the left sternal border (3rd–4th intercostal spaces), accentuated by Valsalva maneuver. Echocardiography revealed the following key findings: severe asymmetric septal hypertrophy, characterized by an interventricular septal thickness (IVsd) at end-diastole of 25–30 mm and a left ventricular posterior wall dimensions (LVPWd) of 21 mm, with a preserved left ventricular ejection fraction (LVEF) of 59%

      CaseNotHPOs: NR

      CaseNotHPOFreeText: NR

      CasePreviousTesting: target-region capture sequencing and second-generation high throughput sequencing were performed to analyze all exons and their Flanking regions. Rare and known variants were validated using Sanger sequencing and cascade screening was carried out for all available relatives

      Genotyping Method: target-region capture sequencing and second-generation high throughput sequencing, Sanger sequencing and cascade screening.

      FunctionalAnalysis:NR

      Variant: NM_000256.3:c.1827dupC, NM_004415.4:c.1324T>C

      ClinVar:NR

      CAID:UnregisteredVariant

      gnomAD:NR

      Gene:MYBPC3 HGNC:7551 InheritancePattern:NoInheritanceAssertion DiseaseEntity:HCM Variant:Missense Zygosity:Heterozygous UnregisteredVariant FamilyInfo inferred_gene_hgnc:7551 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC12812733/pdf/fcvm-12-1630263.pdf
  45. www.sciencedirect.com www.sciencedirect.com
    Subacute administration of human umbilical cord-derived mesenchymal stem cells is associated with neurobehavioral improvement, myeloid immune modulation, and altered HMGB1 dynamics after experimental ischemic stroke
    5
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    sciencedirect.com/science/article/pii/S0006899326004798
  46. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Can Systemic Sarcoidosis and Genetic Cardiomyopathy Coexist?
    4
    1. ClingenBaseline 05 Nov 2026
      A 16-year-old male patient

      Case2: 16-year-old male patient

      DiseaseAssertion: monomorphic VT

      FamilyInfo:NR

      ParentalTesting:NR

      CasePresentingHPOs:HP:0031676, HP:0033118, HP:0032643

      CaseHPOFreeText: Moderately decreased right ventricular (RV) function and moderate RV dilation. moderate myocyte hypertrophy with mild to moderate interstitial fibrosis and rare adipose tissue. Cervical, mediastinal, abdominal, and pelvic FDG-avid lymphadenopathy. myocyte hypertrophy with patchy interstitial fibrosis.

      CaseNotHPOs: NR

      CaseNotHPOFreeText:NR

      CasePreviousTesting:NR

      Genotyping Method:NR

      FunctionalAnalysis:NR

      Variant: NM_001005242.3:c.148_151del

      ClinVar: 45028

      CAID: CA011079

      gnomAD:NR

      AdditionalInfo:NR

      Gene:PKP2 HGNC:9024 InheritancePattern:NoInheritanceAssertion DiseaseEntity:General Zygosity:NoZygosityAssertion ClinVar:45028 CAID:CA011079 MultipleGeneVariants inferred_gene_hgnc:9024 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
    2. ClingenBaseline 05 Nov 2026
      A 39-year-old man

      Case3: 39-year-old man

      DiseaseAssertion: seronegative rheumatoid arthritis

      FamilyInfo: Father was diagnosed with hypertrophic cardiomyopathy

      ParentalTesting: Genetic testing revealed a pathogenic MYBPC3 variant in the patient and his father (c.655G>C [p.Val219Leu])

      CasePresentingHPOs: HP:5210340, HP:0006682, HP:0031971

      CaseHPOFreeText: Rccentric septal hypertrophy with a maximal wall thickness of 1.7 cm, no evidence of outflow tract obstruction, and an LV EF of 65% to 70%. Rare premature ventricular complexes. Mild mediastinal lymphadenopathy, pulmonary sarcoidosis

      CaseNotHPOs: NR

      CaseNotHPOFreeText: NR

      CasePreviousTesting: NR

      Genotyping Method: NR

      FunctionalAnalysis: NR

      Variant: NM_006252.4(PRKAA2):c.148_151del (p.Gln50fs)

      ClinVar:4891957

      CAID:NR

      gnomAD:NR

      AdditionalInfo:NR

      Gene:MYBPC3 HGNC:7551 InheritancePattern:NoInheritanceAssertion DiseaseEntity:HCM Variant:Frameshift Zygosity:NoZygosityAssertion ClinVarID:4891957 FamilyInfo inferred_gene_hgnc:7551 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
    4. ClingenBaseline 05 Nov 2026
      A 59-year-old male

      Case1: 59-year-old male

      DiseaseAssertion: frequent premature ventricular contractions

      FamilyInfo:Significant for dilated cardiomyopathy with multiple sudden cardiac deaths. His sister’s initial genetic testing panel was negative for pathogenic variants at that time

      ParentalTesting:NR

      CasePresentingHPOs: HP:0006682, HP:0025169, HP:0004751, HP:5210340

      CaseHPOFreeText: Transthoracic echocardiogram (TTE) demonstrated a left ventricular (LV) ejection fraction (EF) of 20%-25% and an LV diastolic diameter of 6.6 cm. revealed bulky mediastinal adenopathy. A transbronchial biopsy of lung parenchyma showed noncaseating granulomas, and ultimately the patient was found to have pulmonary sarcoidosis.

      CaseNotHPOs: NR

      CaseNotHPOFreeText: NR

      CasePreviousTesting:NR

      Genotyping Method: NR

      FunctionalAnalysis: NR

      Variant:NM_001458.5(FLNC):c.4737+5G>A

      ClinVar: 934656

      CAID: CA1139660256

      gnomAD: NR

      AdditionalInfo: NR

      InheritancePattern:NoInheritanceAssertion DiseaseEntity:Other Zygosity:NoZygosityAssertion ClinVarID:934656 CAID:CA1139660256 Gene:FLNC HGNC:3756 inferred_gene_hgnc:3756 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC13420677/
  47. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Myozenin 2 Is a Novel Gene for Human Hypertrophic Cardiomyopathy
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC2775141/
  48. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Phenotypic Diversity of Cardiomyopathy Caused by an MYBPC3 Frameshift Mutation in a Korean Family: A Case Report
    1
    1. ClingenBaseline 05 Nov 2026
      74-year-old male was admitted to the Department of Cardiology, Daejeon St. Mary’s Hospital (Daejeon, Korea), for the evaluation of exertional dyspnea (New York Heart Association (NYHA) functional class III), palpitations, and bilateral leg pitting edema for several months.

      Case#: Pedigree I-1; 74-year-old Korean male; admitted for dyspnea (NYHA III), palpitations, and bilateral pitting leg edema over several months

      DiseaseAssertion: Idiopathic restrictive cardiomyopathy (RCM) with biatrial enlargement, in a family with MYBPC3-related cardiomyopathy

      FamilyInfo: Family history of heart disease with two affected daughters (II-2 and II-4), both heterozygous for the same variant and both diagnosed with HCM. Unaffected granddaughter (III-3) tested negative. Both daughters showed asymmetric septal hypertrophy on TTE (18 mm and 17 mm) with mildly dilated LA; daughter II-2 had grade I diastolic dysfunction and mild exertional chest discomfort. CMR confirmed reverse septal curvature hypertrophy consistent with HCM in both daughters, with no LGE in either.⁠

      ParentalTesting: Not performed; the proband is the index case in generation I; his parents were not evaluated. Phase established only through the daughters and granddaughter.

      CasePresentingHPOs:HP:0002094; HP:0001962; HP:0001677; HP:0001635; HP:0001639; HP:0001698

      CaseHPOFreeText: Exertional dyspnea NYHA class III, palpitations, and bilateral leg pitting edema for several months; dyspnea refractory to heart failure medication, with pulmonary venous congestion. ECG and Holter: atrial fibrillation with rare premature ventricular complexes. TTE: RCM with biatrial enlargement and small pericardial effusion. CMR: normal LV chamber size, borderline diffuse LV hypertrophy, very large atria, extensive transmural LGE in the apical wall and mid-myocardial patchy LGE in the ventricular septum. Coronary angiogram normal; no secondary cause of RCM found.⁠

      CaseNotHPOs: HP:0000822; HP:0000819; HP:0001658; HP:0001678

      CaseNotHPOFreeText: Coronary angiogram normal, so no obstructive coronary disease. No secondary cause of RCM identified; no inflammatory, infiltrative, or systemic disease found. No AV block; the rhythm disturbance was atrial fibrillation.

      CasePreviousTesting: Whole exome sequencing (Agilent SureSelect XT Human All Exon v5, Illumina HiSeq2500, GATK. Sanger sequencing of family members showed only the MYBPC3 variant tracked with disease; the other four (KALRN c.1702C>T, KCNH2 c.442C>T, SKI c.30T>G, TTN c.54293T>C) did not correlate with phenotype.⁠

      Genotyping Method: WES in the proband, with annotation via dbNSFP and Ensembl VEP; Sanger sequencing confirmed the MYBPC3 frameshift in the proband (I-1), daughters II-2 and II-4, and its absence in granddaughter III-3 (Fig. 3B).⁠

      FunctionalAnalysis: None performed. CMR showed extensive LGE in the apical LV, and the authors propose that advanced myocardial fibrosis in end-stage HCM can provoke myocardial atrophy, explaining the relatively normal LV chamber size with a predominantly restrictive phenotype hypothesis.⁠

      Variant: MYBPC3 NM_000256.3:c.3313_3314insGG (p.Ala1105Glyfs*85); heterozygous frameshift insertion; absent from gnomAD and the Korean Reference Genome Database.

      ClinVar: 1473634

      CAID: Not reported.

      Gene:MYBPC3

      HGNC: HGNC: 7551

      PMID: 33803538

      gnomAD: Absent per the authors' check of gnomAD as of 8 November 2020, and absent from KRGDB.

      AdditionalInfo: Authors conclude the MYBPC3 frameshift is the pathogenic variant, with the same allele producing RCM in the proband and HCM in both daughters; an example of pleiotropy and variable expressivity within one family. The frameshift has previously been reported in Korean HCM. Poor-prognosis features in RCM cited by the authors: male sex, age over 70, high NYHA class, and LA dimension >60 mm.

      HGNC: 7551 Gene:MYBPC3 InheritancePattern:AutosomalDominant DiseaseEntity:Other Variant:Frameshift Zygosity:Heterozygous FamilyInfo PMID:33803538 inferred_gene_hgnc:7551 inferred_gene_source:Gene_Name Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC8002862/
  49. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Genetic Profile of Left Ventricular Noncompaction Cardiomyopathy in Children—A Single Reference Center Experience
    1
    1. ClingenBaseline 05 Nov 2026
      Left ventricular noncompacti

      Case#: P16, 17 year old male

      DiseaseAssertion: left ventricular noncompaction cardiomyopathy

      FamilyInfo: His mother, sister, and grandfather on his mothers side also had LVNC

      ParentalTesting: NR

      CasePresentingHPOs: NR

      CaseHPOFreeText: The patient had an abnormal structure in the left side of his heart. His heart ultrasound showed extra muscle ridges and deep spaces in the heart muscle.

      CaseNotHPOs: NR

      CaseNotHPOFreeText: The study did not report fainting, heart rhythm problems, blood clots, or heart failure for this patient.

      CasePreviousTesting: Heart ultrasound, ECG, heart MRI, blood tests, and genetic testing.

      Genotyping Method: Next generation sequencing followed by Sanger sequencing to confirm this gene change

      FunctionalAnalysis: NR

      Variant: NM_005159.5:c.329>T

      Clinvar: 2137647

      CAID: CA391631478

      gnomAD: Exact frequency not provided

      AdditionalInfo: The patient's heart pumping ability was 70 %on ultrasound. Researchers classified his ACTC1 variant as a variant of uncertain significance meaning they were not sure whether it causes diseases.

      CaseInfo Gene:ACTC1 DiseaseEntity:LVNC InheritancePattern:AutosomalDominant Variant:Missense Zygosity:Heterozygous FamilyInfo inferred_gene_hgnc:143 inferred_gene_source:Gene_Name Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC9332142/
  50. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Combined PTPN11 and MYBPC3 Gene Mutations in an Adult Patient with Noonan Syndrome and Hypertrophic Cardiomyopathy
    1
    1. ClingenBaseline 05 Nov 2026
      subject (33-year-old female) showed regular psychophysical development

      Case#: 33 year-old female; first cardiologic evaluation at age 24 (LV wall thickness 13 mm); re-evaluated at 33 after recurrent palpitations

      DiseaseAssertion: Noonan syndrome (PTPN11) with sarcomeric hypertrophic cardiomyopathy (MYBPC3); non-obstructive HCM, mild phenotype

      FamilyInfo: Father carries the MYBPC3 c.1790G>A variant and has HCM; the PTPN11 variant was absent in both parents, consistent with de novo. Both parents and the proband's brothers underwent full cardiologic evaluation, no cardiovascular disease in the other family members. Parents declined genetic testing of the underage siblings. Grandparents (I-1, I-2) and II-2, II-3 have unknown phenotypes (pedigree Fig. 2).

      ParentalTesting: Both parents genotyped for the two proband variants (Table 1). Father heterozygous for MYBPC3 c.1790G>A; neither parent carries PTPN11 c.1510A>G, supporting de novo status. Phase between the two variants therefore established as in trans (different genes).

      CasePresentingHPOs: HP:0001639; HP:0001962; HP:0004322; HP:0000271; HP:0001647; HP:0000508

      CaseHPOFreeText: Regular psychophysical development. First echo at 24 showed mild increase in LV wall thickness (13 mm). At 33, presented with several episodes of palpitations; exam showed mild facial dysmorphisms (wide mouth, sloping forehead, prominent nasal bridge, prominent nose, low-set ears), short stature, and a systolic heart murmur. Echo: asymmetric LV hypertrophy, maximum wall thickness 16 mm at the anterior interventricular septum, mild mitral regurgitation, non-obstructive. No other cardiovascular signs.

      CaseNotHPOs: HP:0001635; HP:0001650; HP:0001642; HP:0001250

      CaseNotHPOFreeText: No heart failure, no LV outflow obstruction, no pulmonary stenosis, no other congenital heart defect. No intellectual disability; psychophysical development was regular. No other signs of cardiovascular disease on examination.

      CasePreviousTesting: NGS panel of 325 cardiomyopathy-associated genes (Supplementary Table S1); MAF threshold 5%; variants validated by Sanger sequencing; cascade testing restricted to the two proband variants.

      Genotyping Method: NGS targeted panel (Maxwell 16 DNA extraction, Agilent Alyssa analysis, Illumina Variant Interpreter, in-house pipeline) with Sanger validation; parental Sanger genotyping for the same two variants.

      FunctionalAnalysis: None performed by the authors. They cite prior HeLa cell work showing the MYBPC3 c.1790G>A change causes exon 18 inclusion in the transcript and an almost undetectable 248 bp product.

      Variant 1: PTPN11 NM_002834.3:c.1510A>G (p.Met504Val); heterozygous missense; de novo; classified pathogenic, explains Noonan syndrome

      ClinVar: Not stated in the paper; verify the current record before submitting.

      CAID: N/A

      gnomAD: Not reported in the paper; I have not checked gnomAD for this variant.

      Variant 2: MYBPC3 NM_000256.3:c.1790G>A (p.Arg597Gln); heterozygous missense; exon 18, last nucleotide of the exon, affecting a highly conserved residue and causing a splicing variation; inherited from the father

      ClinVar: Not stated in the paper; authors note it is classified pathogenic/likely pathogenic for HCM in several genetic databases.

      CAID: N/A

      gnomAD: N/A

      PMID: 32824488

      Gene: MYBPC3

      AdditionalInfo: Authors describe this as the first reported young adult with HCM and mild NS carrying variants in both PTPN11 and MYBPC3. Note the terminology problem: the abstract calls them "compound heterozygous," but the variants are in different genes on different chromosomes, so this is digenic (double heterozygosity), not compound heterozygosity. The authors argue the mild phenotype contrasts with the usual expectation that multiple sarcomeric hits worsen the disease, and that red flags justified the broad panel.

      Gene:PTPN11 HGNC:9644 InheritancePattern:DeNovoAssertion DiseaseEntity:Other Variant:Missense Zygosity:Heterozygous UnregisteredVariant MultipleGeneVariants PMID:32824488 inferred_gene_hgnc:9644 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC7463848/
  51. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Air bubbles around the heart: a rare case report of pneumohydropericardium in heart transplantation
    2
    1. ClingenBaseline 05 Nov 2026
      a 40-year-old woman with a history of hypokinetic-dilative cardiomyopathy and heterozygous for TNNT2 gene mutation

      Case#:a 40-year-old woman with a history of hypokinetic-dilative cardiomyopathy and heterozygous for TNNT2 gene mutation

      DiseaseAssertion:hypokinetic-dilative cardiomyopathy

      FamilyInfo: her family appreciated the clear communication, and as her condition improved without further complications, she expressed gratitude for the care provided.

      ParentalTesting:n/r

      CasePresentingHPOs:HP:0001644, HP:0002094, HP:0002094, HP:0001695,

      CaseHPOFreeText:Progressive dyspnea and fatigue began in January 2017. In February 2018, the patient had cardiac arrest due to ventricular fibrillation at 26 weeks’ gestation, followed by emergency caesarean section. She carried a heterozygous TNNT2 variant (c.547C>T, p.Arg183Trp)

      CaseNotHPOs: HP:0031972, HP:0031972

      CaseNotHPOFreeText:Coronary angiography showed no significant stenosis.

      CasePreviousTesting:Testing method and scope

      GenotypingMethod:n/a

      FunctionalAnalysis:not reported

      Variant: c.547C>T p.Arg183Trp)

      Clinvar:not known

      CAID:CA391630526

      gnomAD:n/r

      AdditionalInfo:n/r

      Gene:TNNT2 HGNC ID:11949 InheritancePattern:AutosomalDominant DiseaseEntity:DCM Variant:Missense Zygosity:Heterozygous CAID:CA391630526 inferred_gene_hgnc:11949 inferred_gene_source:HGNC_body Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC11851115/
  52. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC5715713/
  53. advanced.onlinelibrary.wiley.com advanced.onlinelibrary.wiley.com
    Bacteria-Trained, MnO2-Armored Dendritic Cells for Immunotherapy
    1
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    advanced.onlinelibrary.wiley.com/doi/10.1002/adma.75405
  54. advanced.onlinelibrary.wiley.com advanced.onlinelibrary.wiley.com
    CD44-Targeted Antibody-Drug Conjugates Suppress Ovarian Tumor Progression and Remodels Cancer Stem Cell-Associated Molecular Programs
    3
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    advanced.onlinelibrary.wiley.com/doi/full/10.1002/adhm.71897
  55. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Different Phenotypes of Sarcomeric MyBPC3-Cardiomyopathy in the Same Family: Hypertrophic, Left Ventricular Noncompaction and Restrictive Phenotypes (in Association with Sarcoidosis)
    1
    1. ClingenBaseline 05 Nov 2026
      The proband, a 64-year-old male non-smoker, was first admitted to the clinic in June 2014 with complaints of breathlessness during low physical activity, leg edema, infrequent palpitations, occasional pulling pains in the cardiac area and a tendency to hypotension (blood pressure (BP) 100/60 mm Hg).

      Case#: 64-year-old male, non-smoker, first admitted June 2014; Russian family; died 2019 at age 69

      DiseaseAssertion: MYBPC3-related cardiomyopathy with a predominantly restrictive phenotype in combination with left ventricular noncompaction (LVNC) and cardiac sarcoidosis

      FamilyInfo: Son (39) and daughter (35) both heterozygous for the same variant and both have non-obstructive asymmetric HCM, with no LVNC on cardiac CT; both essentially asymptomatic on beta-blocker monotherapy. Five-year SCD risk 4.82% (son) and 2.07% (daughter); ICD implanted in the son, no shocks in three years. Authors mention another family of theirs with a father who died suddenly young and children with HCM and LVNC.

      ParentalTesting: Not performed; the proband is the index case; his parents were not evaluated. Transmission to both children confirmed by Sanger.

      CasePresentingHPOs:HP:0001639

      CaseNotHPOs: N/A

      CasePreviousTesting: N/A

      Genotyping Method: Next-generation sequencing panel; variants confirmed by Sanger.

      FunctionalAnalysis: N/A

      Variant 1: MYBPC3 NM_000256.3:c.278delA; heterozygous frameshift

      Variant 2: KCNJ5 c.464G>A; heterozygous missense

      ClinVar: N/A

      CAID:N/A

      gnomAD: N/A

      Gene:MYBPC3

      PMID:36011256

      Gene:MYBPC3 HGNC:7551 InheritancePattern:AutosomalDominant DiseaseEntity:HCM Variant:Frameshift Zygosity:Heterozygous \ UnregisteredVariant MultipleGeneVariants inferred_gene_hgnc:7551 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC9407345/
  56. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Genetic cardiomyopathy mimicking isolated cardiac sarcoidosis: Diagnostic challenges with positron emission tomography
    2
    2. ClingenBaseline 05 Nov 2026
      a 50‐year‐old male who was clinically diagnosed with isolated CS and prescribed with prednisolone without much effect, and subsequent genetic analysis revealed pathogenic variants in LMNA and TNNT2, representative genes for cardiomyopathy.

      Case#: a 50‐year‐old male who was clinically diagnosed with isolated CS and prescribed with prednisolone without much effect, and subsequent genetic analysis revealed pathogenic variants in LMNA and TNNT2, representative genes for cardiomyopathy.

      DiseaseAssertion:Dilated cardiomyopathy

      FamilyInfo: not reported

      ParentalTesting: He had no family history of heart disease or sudden death

      CasePresentingHPOs:HP:0002094,HP:0005110,HP:0025169, HP:0005110

      CaseHPOFreeText:Progressive cardiac conduction disease: first-degree AV block with left axis deviation on an earlier ECG progressed to high-grade and then complete AV block. At age 50, the patient also had mild dyspnoea on exertion (New York Class ll) and atrial fibrillation. The authors later stated that it was dilated cardiomyopathy.

      CaseNotHPOs:HP:0033608,HP:0002716

      CaseNotHPOFreeText:CT showed no enlarged lymph nodes, pulmonary nodules, or other organ abnormalities

      CasePreviousTesting: whole‐exome sequencing analysis to evaluate the risk of inherited cardiomyopathies and identified two missense variants in TNNT2 (chr1:201364335(hg38), NM_001001430.3, c.422G>A, p.Arg141Gln) and LMNA (chr1:156136096(hg38), NM_170707.4, c.1132A>C, p.Lys378Gln) (Figure 3). Sanger sequencing analysis identified a heterozygous single‐base substitution (c.1132A>C) in the LMNA gene and c.422G>A in the TNNT2 gene (red arrows).

      Genotyping Method:Whole-exome sequencing (WES) identified the variants; Sanger sequencing of the TNNT2 and LMNA variants is shown in Figure 3.

      FunctionalAnalysis:Not reported

      Variant:TNNT2: NM_001001430.3:c.422G>A (p.Arg141Gln),LMNA: NM_170707.4:c.1132A>C (p.Lys378Gln)

      ClinVar:43637

      CAID:CA004540

      gnomAD:not reported

      AdditionalInfo:not reported

      Gene:TNNT2 HGNC ID:11949 InheritancePattern:NoInheritanceAssertion DiseaseEntity:DCM Variant:Missense Zygosity:NoZygosityAssertion CAID:CA004540 inferred_gene_hgnc:11949 inferred_gene_source:HGNC_body Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC12055401/
  57. advanced.onlinelibrary.wiley.com advanced.onlinelibrary.wiley.com
    Plasma-Enabled Multiscale Coupling of Gyroid Architecture and Silver Nanoparticle Biointerfaces Drives Osteogenesis in 3D-Printed Scaffolds
    2
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    advanced.onlinelibrary.wiley.com/doi/10.1002/adhm.71881
  58. advanced.onlinelibrary.wiley.com advanced.onlinelibrary.wiley.com
    Anti-Inflammatory and Neuroactive Effects of Polymer-Coated Iron Oxide Nanoparticles Functionalized With Interleukin 4 for Spinal Cord Injury
    1
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    advanced.onlinelibrary.wiley.com/doi/10.1002/adhm.71858
  59. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Cardiac magnetic resonance findings in two cases of hypertrophic cardiomyopathy with MYH7 and MYBPC3 variants: Limitations of genotype-based phenotypic prediction
    2
    2. ClingenBaseline 05 Nov 2026
      A 40-year-old asymptomatic man

      Case2: 40 year old Male, 37 year old Female

      DiseaseAssertion: HCM, basal septal hypertrophy, dilated phase HCM

      FamilyInfo: Family was notable for end stage HCM in father and in younger brother, family history was notable for HCM in grandmother and sudden cardiac death(SDC) due to HCM in mother

      ParentalTesting: No parental testing done

      CasePresentingHPOs: “Inguinal Hernia surgery, exertional dyspnea”

      CaseHPOFreeText: Transthoracic echocardiography unveiled hypertrophy of the interventricular septum and left ventricular anterior wall, systolic anterior motion of the mitral valve

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: ECG demonstrated a sinus rhythm at 58 bpm with complete right bundle branch block, heart failure progressively worsened

      CasePreviousTesting: Cardiac magnetic resonance reveals ring like late gadolinium enhancement(LGE) as a imaging phenotype

      Genotyping Method: Cardiac magnetic resonance

      FunctionalAnalysis: N/A

      Variant: NM_000257.4 c.2302G>A, NM_000256.3 c.2459G>A MANE select

      ClinVar: 8617

      CAID: CA012326

      gnomAD: chr11-47337534

      https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA012326

      inferred_gene_hgnc:7551 inferred_gene_source:CAID Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC13149905/
  60. febs.onlinelibrary.wiley.com febs.onlinelibrary.wiley.com
    FEBS Press
    2
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    febs.onlinelibrary.wiley.com/doi/10.1002/1873-3468.70494
  61. febs.onlinelibrary.wiley.com febs.onlinelibrary.wiley.com
    DYRK2 inhibition overcomes resistance to SMO inhibitors in Hedgehog-driven tumors
    2
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    febs.onlinelibrary.wiley.com/doi/full/10.1002/1873-3468.70484
  62. dx.doi.org dx.doi.org
    Role of Metabolism in Sensitivity to Quizalofop-P Ethyl in CoAXium Wheat
    1
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    dx.doi.org/10.1021/acsagscitech.6c00716
  63. www.sciencedirect.com www.sciencedirect.com
    MHC II-expressing bone marrow megakaryocytes are noncanonical antigen-presenting cells and activate CD4+ T cells ex vivo
    2
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    sciencedirect.com/science/article/pii/S2211124726013094
  64. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Finding the candidate sequence variants for diagnosis of hypertrophic cardiomyopathy in East Slovak patients
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC6817085/
  65. www.sciencedirect.com www.sciencedirect.com
    Sleep-dependent DNA methylation remodeling in basolateral amygdala fear engrams
    2
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    sciencedirect.com/science/article/pii/S2211124726012696
  66. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Homozygous missense MYBPC3 Pro873His mutation associated with increased risk for heart failure development in hypertrophic cardiomyopathy
    1
    1. ClingenBaseline 05 Nov 2026
      39‐year‐old man presented in 1998 with shortness of breath during exertion

      Case#: Pedigree III:2; male; HCM diagnosed clinically at age 39 (1998); heart transplant after progression to end-stage heart failure

      DiseaseAssertion: Hypertrophic cardiomyopathy (HCM), progressed to end-stage heart failure with systolic dysfunction

      FamilyInfo: No family history of heart disease reported at diagnosis; no known consanguinity. Parents deceased and unavailable for testing. 12 relatives genotyped: one brother (III:3) homozygous, seven first- and second-degree relatives heterozygous. All heterozygotes have normal ECG, normal echo, and no cardiac symptoms. Three children of generation IV (IV:7, IV:8, IV:9) still awaiting results.⁠

      ParentalTesting: Not performed; both parents deceased. Absence of consanguinity stated but not genetically confirmed; parental phase therefore inferred rather than tested.

      CasePresentingHPOs: HP:0001639; HP:0002094 (Dyspnea); HP:0001658; HP:0001678

      CaseHPOFreeText: Exertional dyspnea at age 39 with systolic murmur; IVS 26 mm, posterior wall >16 mm, LVOT peak velocity 2.8 m/s. Pacemaker 1999, extracted 2010 for infection. 2013 circumflex occlusion treated with stent (cholesterol 6.8 mmol/L, LDL 4.6 mmol/L; former smoker). Septum 27 mm, moderate systolic dysfunction, NSVT on Holter → ICD. 2014 AF with severe dyspnea; on beta-blocker, ACE inhibitor, and aldosterone antagonist. 2016 VO₂max 14 mL/kg/min; LVEDP 24 mmHg rising to 38 with exercise, pulmonary pressure 56/27 rising to 70/… systolic. Biopsy: moderate interstitial fibrosis, focal hypertrophy and atrophy, no infiltrative disease.

      CaseNotHPOs: HP:0000822; HP:0000819

      CaseNotHPOFreeText: BP normal throughout, no hypertension. No storage or infiltrative disease on biopsy. Spirometry normal. Narrow QRS, so CRT not indicated.

      CasePreviousTesting: 84-gene cardiomyopathy NGS panel (MYBPC3 100% coverage); MLPA confirmed true homozygosity rather than hemizygous deletion; Sanger cascade in 12 relatives.

      Genotyping Method: NGS panel followed by MLPA confirmation of homozygosity; Sanger for family cascade.

      FunctionalAnalysis: None performed. Biopsy showed interstitial fibrosis with hypertrophy and atrophy, no infiltrative disease. Dominant-negative mechanism proposed, untested.

      Variant: MYBPC3 NM_000256.3:c.2618C>A (p.Pro873His); homozygous missense; C7 domain. (Paper writes "c.2618 G>A" once, C>A is correct.)

      ClinVar: Not stated; conflicting interpretations noted in the literature. Pepper please verifiy for me!

      CAID: N/A

      gnomAD: AF 0.00006781 (14/206,446; 13/97,288 European non-Finnish) per the authors.

      AdditionalInfo: ACMG Class 2 (likely pathogenic) heterozygous. Authors argue homozygosity drove progression to end-stage failure; alternative triggers considered, prior myocarditis (1989) and the 2013 infarct; but judged insufficient to explain severity.

      PMID: 29663722 Gene: MYBPC3 HGNC: HGNC:7551

      openaccess Gene:MYBPC3 PMID:29663722 InheritancePattern:AutosomalDominant DiseaseEntity:HCM Variant:Frameshift Zygosity:Heterozygous UnregisteredVariant MultipleGeneVariants inferred_gene_hgnc:7551 inferred_gene_source:HGNC_body Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC6073032/
  67. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    PhSAN induces PANoptosis via targeting RNF25-mediated endoplasmic reticulum stress
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13594740/
  68. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Late Onset Sporadic Dilated Cardiomyopathy Caused by a Cardiac Troponin T Mutation
    2
    2. ClingenBaseline 05 Nov 2026
      A 70‐year‐old woman, previously healthy with a left ventricular ejection fraction of 50%–55% at age 69, presented with DCM of unknown cause and a 4‐month history progressive heart failure requiring cardiac transplantation.

      Case#:A 70‐year‐old woman, previously healthy with a left ventricular ejection fraction presented with DCM

      DiseaseAssertion:dilated cardiomyopathy and a 4-month history of progressive heart failure

      FamilyInfo:"Family history was negative for IDC or heart failure (Figure 3), although an uncle (II‐3) reportedly had an enlarged heart, and three other relatives (II‐1, II‐2, and III‐4) had cardiac related deaths confirmed by death certificate. The proband’s father (II‐1) died of myocardial failure and pulmonary edema; her mother (II‐2) died of pulmonary embolism; and her sister (III‐4) died suddenly of coronary artery disease in her 60s. Her daughter, the proband’s niece (IV‐3), had a history of palpitations and lower extremity swelling, intermittent numbness, and blanching of the fingers at age 49. Her echocardiogram was normal. Her ECG showed nonspecific ST‐T wave changes and left anterior hemiblock."

      ParentalTesting:no parental testing reported because both parents were deceased. The two offsprings that were reported were tested and carried both variants.

      CasePresentingHPOs:HP:0001644, HP:0001635, HP:0002875, HP:0012378

      CaseHPOFreeText:symptoms of progressive dyspnea on exertion and fatigue that began 2–3 months prior to her presentation. Also, she had an unrelenting progression of symptoms and was hospitalized with advanced NYHA Class IV heart failure 6 weeks later. Lastly, she received a heart transplant.

      CaseNotHPOs:not reported

      CaseNotHPOFreeText:no myocarditis or infiltrative process and no histological evidence of hemochromatosis,

      CasePreviousTesting:Oligonucleotide hybridization‐based DNA sequencing was conducted in the proband for a panel of 19 DCM genes ( Table 1 )

      Genotyping Method:Oligonucleotide hybridization‐based DNA sequencing and genomic DNA was extracted from whole blood and was sequenced in our laboratory in both directions to detect and/or confirm nucleotide variants in TNNT2 in the proband and the proband’s relatives using an Applied Biosystems 3130XL capillary sequencer

      FunctionalAnalysis:R139H (Figure 4): Functional studies in porcine cardiac skinned fibers reconstituted with the mutant R139H troponin T protein showed decreased Ca2+ sensitivity at pH 7, characteristic of DCM.

      Variant:416G>A (R139H) in exon 10 and 690–6G>A in intron 13.

      ClinVar:not found

      CAID:CA004513

      gnomAD:not found

      AdditionalInfo:not reported

      Gene:TNNT2 HGNC ID:11949 InheritancePattern:NoInheritanceAssertion DiseaseEntity:DCM Variant:Missense Variant:Intronic Zygosity:Heterozygous CAID:CA004513 inferred_gene_hgnc:11949 inferred_gene_source:HGNC_body Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC2965560/
  69. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genotype-phenotype correlation in von Hippel-Lindau disease
    2
    1. ClingenBaseline 05 Nov 2026
      2 (50)

      GroupID: 24a

      DiseaseAssertion: VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: a retrospective cohort study from an eye centre in Germany involved 148 VHL patients and their genetic data involved in retinal capillary hemangiomas.

      GroupPresentingHPOs: HP:0009711 (retinal capillary hemangioma)

      GroupHPOFreeText: These 2/4 patients with a P86H (c.257C>A) mutation had retinal capillary hemangiomas. Other VHL manifestations were discussed but not per- variant.

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P86H (c.257C>A)

      LegacyVariant: N/A

      GroupProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351750632 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.257C>A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: P86H (c.257C>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:VHL SupplementalData NoFamilyInfo AminoAcidChange:PROtoHIS ProteinPosition:86 cDNAposition:257 MutationType:missense_variant;transversion CivicName:P86H(c.257C>A) CAID:CA351750632 ClinVarID:N/A inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 05 Nov 2026
      1 (50)

      GroupID: 19a

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      CohortInfo: a retrospective cohort study from an eye centre in Germany involved 148 VHL patients and their genetic data involved in retinal capillary hemangiomas.

      CasePresentingHPOs: HP:0009711 (retinal capillary hemangioma)

      CaseHPOFreeText: This was 1 of 2 patients discussed with this mutation. The individual had retinal hemangiomas; Other VHL manifestations were discussed but not per- variant.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Yes - Supplementary Table S1

      Variant: p.R79G (c.235C>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 411988 https://www.ncbi.nlm.nih.gov/clinvar/variation/411988/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: R79G (c.235C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma ClinVarID:411988 ClinVarID:Yes NoFamilyInfo SupplementalData cDNAposition:235 ProteinPosition:79 CivicName:R79G(c.235C>G) AminoAcidChange:ARGtoGLY MutationType:missense_variant;transversion inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/10.1111/aos.14843
  70. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genotype-phenotype correlations in Chinese von Hippel–Lindau disease patients
    1
    1. ClingenBaseline 05 Nov 2026

      PatientID: 277

      KindredID: 108

      Case: M, 28Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: The proband, patient 277, presented with a CNS hemangioblastoma at age 16, retinal angioma a 20, and renal cell carcinoma at 28. Their father who passed away before diagnosis presented with a CNS hemangioblastoma at 48.

      CasePresentingHPOs: HP:0010797; HP:0009711; HP:0005584 (Hemangioblastoma, Retinal capillary hemangioma, Renal cell carcinoma)

      CaseHPOFreeText: The proband, patient 277, presented with a CNS hemangioblastoma at age 16, retinal angioma a 20, and renal cell carcinoma at 28.

      CaseNotHPOs: HP:0002666; HP:0001737; HP:0001732 (Pheochromocytoma, Pancreatic cysts, Abnormality of the pancreas)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: This cohort was also published in a later paper by Wang et al., 2018 (PMID: 29330336).

      SupplementalData: Patient and family genotype-phenotype information is listed in Supplementary Table 1.

      Variant: Exon 2-3 Deletion (c.341-?_642+?del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: exon_loss_variant

      CivicName: Exon 2-3 Deletion

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma AgeOfPresentation:hemangioblastoma:16 AgeOfPresentation:retinalcapillaryhemangioma:20 AgeOfPresentation:renalcellcarcinoma:28 MutationType:exon_loss_variant CivicName:Exon2-3Deletion UnregisteredVariant Familial SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5503545/
  71. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germ‐line Mutation Analysis in Patients with von Hippel‐Lindau Disease in Japan: An Extended Study of 77 Families
    1
    1. ClingenBaseline 05 Nov 2026

      A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families using SSCP, direct sequencing, and Southern Blot analysis of peripheral blood samples. The L198Gfs*57 (c.592_593del) germline mutation was found in a VHL type 1 patient presenting with CNS hemangioblastoma, retinal angioma, pancreatic cyst or tumor (unspecified) and renal cell carcinoma (family ID 67).

      EvidenceStatement ClinVarID:N/A CAID:CA658795185 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/10761708/
  72. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma
    1
    1. ClingenBaseline 05 Nov 2026
      PMID: 7977367

      PatientID: N/A

      KindredID: A-704 (cell line)

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Renal cell carcinoma

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0005584 (renal cell carcinoma)

      CaseHPOFreeText: Described as sporadic RCC from cell line A-704

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.I180N (c.539T>A)

      LegacyVariant: p.I251N (c.752T>A)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351756277 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.539T%3EA

      gnomAD: N/A

      VariantEvidence:N/A

      MutationType: missense_variant; transversion

      CivicName: I180N (c.539T>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:AF010238.1 DiseaseEntity:renalcellcarcinoma ProteinPosition:180 cDNAposition:539 CivicName:I180N(c.539T>A) AminoAcidChange:ILEtoASN MutationType:missense_variant;transversion NoFamilyInfo CAID:CA351756277 ClinVarID:N/A inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/7977367/
  73. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Von Hippel-Lindau (VHL) disease with pheochromocytoma in the Black Forest region of Germany: evidence for a founder effect
    1
    1. ClingenBaseline 05 Nov 2026
      germline missense mutation at nucleotide 505 (T to C) of the VHL tumor suppressor gene in 14, apparently unrelated, VHL type 2A families from the Black Forest region of Germany.

      GroupID/ KindredID: VHL 2

      DiseaseAssertion: assumed VHL

      GroupSize: 3

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: German

      GroupAgeRange: N/A

      FamilyInfo: 3 affected members belong to this VHL type 2A family. One representative affected member was analyzed with this mutation, and VHL was diagnosed clinically in this index person. It is unclear as to whether the additional patients had this precise mutation, although assumed.

      GroupPresentingHPOs: HP:0009711; HP:0002666 (retinal capillary hemangioma, pheochromocytoma)

      GroupHPOFreeText: all 3 individuals had Pheos, whereas only 1 person had a retinal capillary hemangioma.

      GroupNotHPOs: HP:0010797; HP:0005584; HP:0001737; HP:0009715 (hemangioblastoma, renal cell carcinoma, pancreatic cysts, papillary cystadenoma of the epididymis)

      GroupNotHPOFreeText: No patients had the above tumors

      GroupPreviousTesting: N/A

      PreviouslyPublished: 11134110, 9681856, 11850829

      SupplementalData: N/A

      Variant: p.Y98H (c.292T>C)

      LegacyVariant: p.Y98H (c.505T>C)

      CaseProblemVariantFreeText: N/A

      ClinVar: 2223 https://www.ncbi.nlm.nih.gov/clinvar/variation/2223/

      CAID: N/A

      gnomAD: 0.00001343 https://gnomad.broadinstitute.org/variant/3-10183823-T-C

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: Y98H (c.292T>C)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:pheochromocytoma CivicName:Y98H(c.292T>C) cDNAposition:292 ProteinPosition:98 AminoAcidChange:TYRtoHIS MutationType:missense_variant;transition InheritancePattern:AutosomalDominant Ethnicity:German Mutation:Germline Familial FamilyCohort ClinVarID:Yes ClinVarID:2223 PreviouslyPublished AssumedRefSeq:AF010238.1 ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/7759077/
  74. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Long-term outcomes, branch-specific expressivity, and disease-related mortality in von Hippel-Lindau type 2A
    1
    1. ClingenBaseline 05 Nov 2026

      PatientID: V-10

      KindredID: 1

      Case: F, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Family’s roots were traced to the German town of Leipzig in Saxony, from whence the original 11 siblings had immigrated to America around 1670. The following report is a 2011 updated pedigree on the previously reported Tisherman kindred. At the time of this study, 43/49 patients have undergone mutational analysis revealing the VHL familial mutation (Y112H) and 35/49 patients have clinical VHL manifestations. Phenotypic cumulative lifetime risk was 71% for Pheo/PGL, 15% for hemangioblastoma, 33% for retinal angioma, 3% for renal cell carcinoma, and 3% for pancreatic cysts. 6 members of the family (all deceased; 4 males, 2 females) had suspected VHL and 2 (males) of these were suspected to have had Pheo/PGL.

      CasePresentingHPOs: HP:0002666; HP:0002668 (Pheochromocytoma, Paraganglioma)

      CaseHPOFreeText: Phenotype noted as: Pheo/PGL (unclear which of the two or if both apply to this patient).

      CaseNotHPOs: HP:0005584; HP:0009711 (Renal cell carcinoma, Retinal capillary hemangioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 9201016; 8239848 (no genetic information; only phenotypes)

      SupplementalData: N/A

      Variant: p.Y112H (c.334T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2222, https://www.ncbi.nlm.nih.gov/clinvar/variation/2222/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: Y112H (c.334T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:paraganglioma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:334 ProteinPosition:112 AminoAcidChange:TYRtoHIS ClinVarID:2222 ClinVarID:Yes MutationType:missense_variant;transition CivicName:Y112H(c.334T>C) FamilyPedigree Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/21713522/
  75. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Central Nervous System Hemangioblastoma in a Pediatric Patient Associated With Von Hippel-Lindau Disease: A Case Report and Literature Review
    1
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    pubmed.ncbi.nlm.nih.gov/34109129/
  76. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genetic characterization and structural analysis of VHL Spanish families to define genotype–phenotype correlations
    1
    1. ClingenBaseline 05 Nov 2026

      Thirty-five unrelated patients suspected of having von Hippel-Lindau disease were analyzed and 32 VHL gene variants were found in 35 patients using PCR and SSCP by peripheral blood leukocytes. An association of clear cell renal carcinoma development with a relatively high loss of structural stability in VHL protein missense mutations was discovered. A mutation, F76del(c.227_229del) (noted as g.941_943delTCT in the paper originally) was found in a patient with cerebellar hemangioblastomas, renal cyst, and pancreatic cyst, the pateints age on onset was 31 years old. No family history was mentioned, other than a note of no familial antecedents with the disease.

      CAID:CA357012 EvidenceStatement inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/abs/10.1002/humu.10309
  77. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors.
    1
    1. ClingenBaseline 05 Nov 2026

      PatientID: 1

      KindredID: 95

      Case: Sex, Age, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: one pheochromocytoma was detected in this patient

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      CaseProblemVariantFreeText: N/A

      LegacyVariant: p.R167W (c.712C>T)

      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: LOH detected

      MutationType: missense_variant; transition

      CivicName: R167W (c.499C>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:pheochromocytoma InheritancePattern:AutosomalDominant NoFamilyInfo Mutation:Germline RefSeq:AF010238.1 ClinVarID:2218 ClinVarID:Yes cDNAposition:499 CivicName:R167W(c.499C>T) ProteinPosition:167 AminoAcidChange:ARGtoTRP MutationType:missense_variant;transition inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC1712486/