1. Last 7 days
  2. www.cell.com www.cell.com
    A bioavailable GPX4 inhibitor for ferroptosis induction in vivo and tumor suppression
    4
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    cell.com/cell/abstract/S0092-8674(26)01200-6
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    Passion fruit pectins differentially modulate toll-like receptors, macrophages, and epithelial wound healing according to molecular size
    9
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    sciencedirect.com/science/article/pii/S0144861726011148
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    Chiral cellulose nanocrystal - MXene nanocomposite architectures for resource-efficient energy storage
    2
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    sciencedirect.com/science/article/pii/S0144861726011100
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    Crosstalk Between RARγ-Driven Tumor Cells and Cancer-Associated Fibroblasts Governs Ferroptosis Resistance in Cholangiocarcinoma
    3
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    sciencedirect.com/science/article/pii/S0304383526007111
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    Reduced BNIP1 impairs autophagosome-lysosome fusion in hippocampal neurons and contributes to Alzheimer's disease pathology
    7
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    sciencedirect.com/science/article/pii/S0361923026004739
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    Estrogen-related receptor gamma coordinates glutamine dependence and mitochondrial metabolic flexibility in retinoblastoma
    2
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    sciencedirect.com/science/article/pii/S240558082600436X
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    Frequency-dependent dielectric behavior of aerosol jet-printed nanodiamond thin films
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    sciencedirect.com/science/article/pii/S0169433226029910
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    GLP-1R agonists bind to GLP-1R and enhance FGF21 production in pancreatic β-cells. FGF21 improves β-cell function through both a canonical secretory pathway and a noncanonical intracellular NRF2-dependent pathway.
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    sciencedirect.com/science/article/pii/S2211383526007240
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    MDMA-Assisted Therapy for Veterans with Comorbid Posttraumatic Stress Disorder and Alcohol Use Disorder: Clinical Outcomes from the First Open-Label Pilot Trial
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    sciencedirect.com/science/article/pii/S0741832926002533
  11. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms
    6
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    pmc.ncbi.nlm.nih.gov/articles/PMC13504347/
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    Quantifying the influence of contraction history on ex vivo bladder mechanics using optogenetics
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    sciencedirect.com/science/article/pii/S1742706126007403
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    HP1γ promotes the progression of colorectal cancer through interaction with RBPJ of the Notch signaling pathway
    17
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    pmc.ncbi.nlm.nih.gov/articles/PMC13593721/
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    Does fly larval cooperative behavior protect against parasitic wasps?
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    pmc.ncbi.nlm.nih.gov/articles/PMC13395988/
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    Identification of a human mitochondrial isoform of TRPV1: a thermostat regulating mitochondrial maximal temperature?
    9
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    pmc.ncbi.nlm.nih.gov/articles/PMC13594010/
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    Enhanced biocontrol traits of Pachycrepoideus vindemmiae reared on the alternative host Drosophila virilis
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    pmc.ncbi.nlm.nih.gov/articles/PMC13352209/
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    Interrogating the Escherichia coli Epitranscriptome Via CRISPR Interference and Nanopore Native RNA Sequencing
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    pmc.ncbi.nlm.nih.gov/articles/PMC13592227/
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    The Branching Projection Pattern of Ventral Subicular Cells Revealing the Complex Integrative Role of Key Hippocampal Outputs in Driving Fear and Anxiety
    5
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    pmc.ncbi.nlm.nih.gov/articles/PMC13590909/
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    Somatotopic Organization of Sensory Inputs From Taste Appendages in the Subesophageal Zone and Brain of the Honey Bee Apis mellifera
    4
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    pmc.ncbi.nlm.nih.gov/articles/PMC13737438/
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    Subversion of Atypical Mucin Traps by a Spore‐Coat Effector Blocks Cellular Immunity in Drosophila
    2
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    pmc.ncbi.nlm.nih.gov/articles/PMC13373891/
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    PARK(ing) time–How park deficiency affects the biological clock in a Drosophila model of Parkinson's disease
    2
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    pmc.ncbi.nlm.nih.gov/articles/PMC13404150/
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    Spectraplakin is required for dendritic microtubule organization via a tip-based mechanism in Drosophila
    3
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    pmc.ncbi.nlm.nih.gov/articles/PMC13739272/
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    PUM3 is an essential suppressor of replication stress in homologous recombination deficient breast cancer
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13594191/
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    Senescent T cells within the tumor microenvironment are a potent driver for tumor growth, stemness, and chemotherapy resistance
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    sciencedirect.com/science/article/pii/S2666379126005586
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    Activation of the prelimbic–infralimbic circuitry alleviates dysfunction in conditioned fear processing following traumatic stress in rats
    2
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    sciencedirect.com/science/article/pii/S0278584626003854
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    Opposing excitatory and inhibitory synaptic pathologies drive ZC4H2-associated intellectual disability
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    Diet-induced diabetes driven by proinsulin misfolding reversed by β-cell rest
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    sciencedirect.com/science/article/pii/S2212877826001456
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    Exercise imprints a persistent tumor intrinsic suppressive state in colorectal cancer
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    PD-L1 expression in germinal centers promotes humoral immunity by restricting T follicular regulatory cell differentiation
    1
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    cell.com/immunity/abstract/S1074-7613(26)00414-0
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    TUSC3 serves as a rate-limiting gatekeeper of a glycan-mediated ER triage checkpoint for BMP4/Dpp
    7
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  31. 100.65.209.99:8899 100.65.209.99:8899
    如果下一代基模更强，具身公司还有什么价值？
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  32. Local file Local file
    ProCon: De-extinction
    1
    1. Luis_AA 07 Nov 2026
      This view, however, did not account for sudden cataclysmic environmental events or humanity's impact on the environment, as was evident during Darwin's own lifetime with the disappearance of the great auk, a large flightless bird prevalent on rocky islands along the coastlines of Canada and northern Europe.

      Weak or irrelevant srguement when suddenly bringing up humanity's involvement when talking about Darwin's theory.

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  33. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Homozygous Pro1066Arg MYBPC3 Pathogenic Variant in a 26Mb Region of Homozygosity Associated with Severe Hypertrophic Cardiomyopathy in a Patient of an Apparent Non-Consanguineous Family
    1
    1. ClingenBaseline 07 Nov 2026
      A 35-year-old woman who was a homozygous carrier of the p.(Pro1066Arg) variant

      Case:Female, 35.

      DiseaseAssertion:Hypertrophic cardiomyopathy (HCM) with left ventricular noncompaction (LVNC) and conduction abnormalities.

      Familyinfo:The patient's father had hypertrophic cardiomyopathy and carried a heterozygous MYBPC3 p.(Pro1066Arg) variant. The patient's mother was also heterozygous for the MYBPC3 variant. The patient had one sister who did not have reported cardiac abnormalities and was heterozygous for the MYBPC3 variant. The family was initially considered non-consanguineous. Genetic analysis identified a 26 Mb region of homozygosity, suggesting distant parental relatedness.

      ParentalTesting:Both parents were tested. The father and mother were heterozygous for MYBPC3 c.3197C>G (p.Pro1066Arg). The affected daughter inherited the variant from both parents and was homozygous.

      CasePresentingHPOs:HP:0031992, HP:0001685, HP:0005157, HP:0031295, HP:0001667, HP:0001670, HP:0001712, HP:0005144, HP: 0031195, HP:0030682, HP:0005135, HP: 0006682, HP: 0004763

      CaseHPOFreeText:The patient developed severe cardiac manifestations associated with homozygous MYBPC3 p.(Pro1066Arg). Cardiac MRI showed ventricular hypertrophy, myocardial fibrosis, and features of left ventricular noncompaction. At follow-up, imaging showed asymmetric ventricular wall thickness, with a maximum diastolic thickness of 20 mm in the mid-lateral segment. She also had apical hypokinesia and left atrial enlargement. Electrocardiography and Holter monitoring showed premature ventricular complexes and a 20-beat episode of nonsustained ventricular tachycardia.

      CaseNotHPOs:No specific negative HPO findings were established for the affected daughter in the reported HPO table.

      CaseNOTHPOFreeText:not reported

      CasePreviousTesting:Cardiac MRI, echocardiography, electrocardiography, and 24-hour Holter monitoring were performed. Genetic evaluation was also conducted to identify the MYBPC3 and MYH7 variants.

      GenotypingMethod:Whole-exome sequencing (WES) trio analysis was performed using DNA from the affected daughter and both parents. Family segregation analysis was performed by Sanger sequencing using an Applied Biosystems 3130 sequencer.

      FunctionalAnalysis:No direct functional analysis of the MYBPC3 variant was reported.

      Variant:NM_000256.3 (MYBPC3): c.3197C>G; p.(Pro1066Arg).

      ClinVar: 1171602

      CAID:not reported

      gnomAD:not reported

      AdditionalInfo:The patient was homozygous for the MYBPC3 p.(Pro1066Arg) variant. Both parents carried the variant in the heterozygous state. A 26 Mb region of homozygosity was identified on chromosome 11, supporting the possibility of distant parental relatedness. The variant was initially classified as a variant of uncertain significance and was subsequently reclassified as likely pathogenic following family segregation analysis.

      inferred_gene_hgnc:7551 inferred_gene_source:RefSeq Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC9316903/
  34. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Variant R94C in TNNT2‐Encoded Troponin T Predisposes to Pediatric Restrictive Cardiomyopathy and Sudden Death Through Impaired Thin Filament Relaxation Resulting in Myocardial Diastolic Dysfunction
    2
    1. ClingenBaseline 07 Nov 2026
      proband (IV.3)

      Case#: a 2‐year‐old white girl who was found to have RCM following an evaluation precipitated by the sudden death of her older brother.

      DiseaseAssertion: Restrictive cardiomyopathy

      FamilyInfo: 4‐year‐old brother presented with a sudden cardiac arrest while running on a soccer field and could not be resuscitated. Her father had restrictive physiology and arrhythmias. The TNNT2 variant was found in the father and two children

      ParentalTesting: Father carried the variant. For both paternal grandparents tested negative and the proband inherited the variant from her father.

      CasePresentingHPOs: HP:0001723, HP:0001639, HP:0031295, HP:0030718, HP:0001695

      CaseHPOFreeText: "Her ECG demonstrated criteria for right and left atrial enlargement with marked repolarization abnormality. Echocardiogram revealed mild right atrial and severe left atrial enlargement (left atrial volume, 61.5 cc/m2; normal, 16–28), with mildly increased left ventricular mass and otherwise normal ventricular dimensions. Right and left ventricular systolic function was preserved. "

      CaseNotHPOs: not reported

      CaseNotHPOFreeText: Ventricular dimensions and biventricular systolic function were reported as normal.

      CasePreviousTesting: Cardiomyopathy‐based panel testing (Familion; Transgenomic, Inc., New Haven, CT) was conducted on the proband, demonstrating a single, heterozygous, variant TNNT2‐R94C (c.280C>T).

      Genotyping Method: Clinical genetic testing was performed on family members using the same HCM panel test.

      FunctionalAnalysis: Biophysical experiments using recombinant human TNNT2‐R94C demonstrated impaired cardiac regulation at the molecular level attributed to reduced calcium‐dependent blocking of myosin's interaction with the thin filament.

      Variant: c.835C>T, p.Gln279Ter

      ClinVar: 165549

      CAID: CA004288

      gnomAD: not reported

      AdditionalInfo: not reported

      Gene:TNNT2 HGNC ID:11949 InheritancePattern:AutosomalDominant DiseaseEntity:HCM Variant:Missense Zygosity:Heterozygous inferred_gene_hgnc:11949 inferred_gene_source:HGNC_body Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC7335540/
  35. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Left ventricular non-compaction in a hypermobile adolescent harboring a novel troponin I (TNNI3) variant (p.K106N): a case report
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC13431892/
  36. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A case report: Twin sisters with restrictive cardiomyopathy associated with rare mutations in the cardiac troponin I gene
    3
    1. ClingenBaseline 07 Nov 2026
      Case 1 is the elder twin

      Case1: 11 year old female

      DiseaseAssertion: hypertrophic cardiomyopathy, restrictive cardiomyopathy

      FamilyInfo: twin sister carrier identical mutation, both sisters expired, no family history of cardiomyopathy

      ParentalTesting: sanger sequencing

      CasePresentingHPOs:HP:0001629, HP:0001640, HP:0034314,HP:0002098, HP:0001723

      CaseHPOFreeText:bilateral atrial dilation with mid ventricular hypertrophy, accelerated cardiac sound, liver palpable 2cm below costal margin, cold extremities, cardiac condition was New York Heart Association class (NYHA) III.

      CaseNotHPOs: NR

      CaseNotHPOFreeText: no gallop rhythm, no murmur, no blood test abnormalities, no metabolic disorders

      CasePreviousTesting: cardiac catheterization, cardiac magnetic resonance, echocardiography, Chest Xray, electrocardiography,

      Genotyping Method: sanger sequencing

      FunctionalAnalysis: NR

      Variant: TNNI3 c.574 C>T p.Arg192Cys

      ClinVar: 165510

      CAID: CA021951

      gnomAD:NR

      Zygosity:Heterozygous DiseaseEntity:HCM DiseaseEntity:Other InheritancePattern:AutosomalDominant ClinVarID:165510 CAID:CA021951 inferred_gene_hgnc:11947 inferred_gene_source:CAID Cardiomyopathy Annotation
    3. ClingenBaseline 07 Nov 2026
      Case 2 is her identical twin sister

      Case 2: 15 year old female

      DiseaseAssertion: restrictive cardiomyopathy, hypertrophic cardiomyopathy

      FamilyInfo: twin sister carrier identical mutation, both sisters expired, no family history of cardiomyopathy

      ParentalTesting: Sanger Sequencing

      CasePresentingHPOs:HP:0002875, HP:0001723

      CaseHPOFreeText: Abnormal ECG, LV hypertrophy, enlargement of both atria, high LVEF levels, accelerated cardiac sound, liver was palpable 3 cm, extremities were warm, and cardiac condition was NYHA II.

      CaseNotHPOs:NR

      CaseNotHPOFreeText: no gallop rhythm, no murmur, no blood test abnormalities, no metabolic disorders

      CasePreviousTesting: cardiac catheterization, cardiac auscultation, myocardial disarray with myocyte hypertrophy

      Genotyping Method: Sanger sequencing

      FunctionalAnalysis: NR

      Variant: TNNI3 c.574 C>T p.Arg192Cys

      ClinVar: 165510

      CAID: CA021951

      gnomAD:NR

      Zygosity:Heterozygous DiseaseEntity:HCM DiseaseEntity:Other InheritancePattern:AutosomalDominant ClinVarID:165510 CAID:CA021951 inferred_gene_hgnc:11947 inferred_gene_source:CAID Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC8020042/
  37. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Genetic Screening Reveals Heterogeneous Clinical Phenotypes in Patients with Dilated Cardiomyopathy and Troponin T2 Variants
    3
    2. ClingenBaseline 07 Nov 2026
      half-brother (B.III.6) carries the same pathogenic TNNT2-variant and was diagnosed with mild LV dilatation in early childhood.

      Case#: Male half-brother with mild left ventricular dilation from early childhood and mild left ventricular impairment; latest reported ejection fraction was 51%.

      DiseaseAssertion: DCM

      FamilyInfo: several of the siblings DCM, two died at age of 12, father had DCM, and heart transplant for an individual who later died

      ParentalTesting: father was an obligate carrier

      CasePresentingHPOs: HP:0001644

      CaseHPOFreeText: Mild left ventricular dilation and mildly increased LV volumes

      CaseNotHPOs: not reported

      CaseNotHPOFreeText: not reported

      CasePreviousTesting: panel-based genetic test was conducted in the index patient.

      Genotyping Method: panel-based genetic test was conducted in the index patient. sanger confirmation

      FunctionalAnalysis: not reported

      Variant: c.659_661del p.(Lys220del)

      ClinVar: 43659

      CAID: CA006429

      gnomAD: not reported

      AdditionalInfo: not reported

      Gene:TNNT2 HGNC ID:11949 InheritancePattern:AutosomalDominant DiseaseEntity:DCM Variant:Inframe Zygosity:Heterozygous inferred_gene_hgnc:11949 inferred_gene_source:HGNC_body Cardiomyopathy Annotation
    3. ClingenBaseline 07 Nov 2026
      The patient underwent heart transplantation at the age of 26 months.

      Case#: A 2-year-old girl with dilated cardiomyopathy (DCM) and left ventricular noncompaction, who received a heart transplant at 26 months.

      DiseaseAssertion: DCM with left ventricular noncompaction

      FamilyInfo: Family history revealed that three of the father’s (A.II.2) sisters (A.II.4-A.II.6) died in infancy due to cardiac failure.

      ParentalTesting: The father and paternal grandmother tested positive for the same TNNT2 variant

      CasePresentingHPOs: HP:0001644, HP:0030682, HP:0001635

      CaseHPOFreeText: The heart failure signs began at 2 months and got worse. Then got a heart transplant at 26 months.

      CaseNotHPOs: not reported

      CaseNotHPOFreeText: nothing found

      CasePreviousTesting: a genetic panel test, including the genes LDB3, LMNA, MYH7, MYBPC3, and TNNT2, was performed.

      Genotyping Method: Variants were confirmed in first-degree family members by Sanger sequencing.

      FunctionalAnalysis: not reported

      Variant: c.316G>A (p.Glu106Lys)

      ClinVar: 224775

      CAID: CA088557

      gnomAD: not reported

      AdditionalInfo: not reported

      Gene:TNNT2 HGNC ID:11949 DiseaseEntity:Other InheritancePattern:AutosomalDominant DiseaseEntity:DCM Variant:Missense Zygosity:Heterozygous inferred_gene_hgnc:11949 inferred_gene_source:HGNC_body Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC10145473/
  38. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A De Novo Mutation in ACTC1 and a TTN Variant Linked to a Severe Sporadic Infant Dilated Cardiomyopathy Case
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC11699985/
  39. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Troponin T Mutation as a Cause of Left Ventricular Systolic Dysfunction in a Young Patient with Previous Surgical Correction of Aortic Coarctation
    2
    2. ClingenBaseline 07 Nov 2026
      case of a 19-year-old boy with coarctation of the aorta who complained of mild exertional dyspnea.

      Case#: 19-year-old boy with coarctation of the aorta who complained of mild exertional dyspnea.

      DiseaseAssertion: dilated cardiomyopathy (DCMP). LV systolic dysfunction.

      FamilyInfo: The family history was positive to sudden death (his cousin died, aged 3 months) and to DCMP and heart transplant (HT): a maternal aunt and her son who then died at 42 and 24 years old. Cascade family screening revealed a TNNT2 variant in the mother (II.1) and his cousin (IV.3).

      ParentalTesting: The 19 year old brother's was tested and carried the TNNT2 variant. She was also affected by DCM. The father’s testing status was not reported.

      CasePresentingHPOs: HP:0001680, HP:0002875, HP:0025169, HP:4000141

      CaseHPOFreeText: surgically repaired coarctation of the aorta who complained of mild exertional dyspnea repaired at birth (NYHA class II–III). Cardiac MRI showed a moderately dilated, hypokinetic LV with an ejection fraction of 45%; echocardiography showed an ejection fraction around 42%.

      CaseNotHPOs: not reported

      CaseNotHPOFreeText: Nothing was found that was correlated.

      CasePreviousTesting: genetic investigations through next generation sequencing (NGS) with a panel of 325 genes, known to be associated with cardiomyopathies

      Genotyping Method: targeted next generation sequencing

      FunctionalAnalysis: not reported

      Variant: c.518G>A (p. Arg173Gln)

      ClinVar: 43649

      CAID: CA004727

      gnomAD: not reported

      AdditionalInfo: not reported

      Gene:TNNT2 HGNC ID:11949 InheritancePattern:AutosomalDominant DiseaseEntity:DCM Variant:Missense Zygosity:Heterozygous CAID: CA004727 ClinVarID: 43649 inferred_gene_hgnc:11949 inferred_gene_source:HGNC_body Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC8148585/
  40. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Rare variant mutations identified in pediatric patients with dilated cardiomyopathy
    2
    2. ClingenBaseline 07 Nov 2026
      The proband

      Case#: Female, 6, non-Hispanic white

      DiseaseAssertion: Dilated Cardiomyopathy

      FamilyInfo: Father and Paternal uncle diagnosed with DCM at age 34.

      ParentalTesting: Her father underwent cardiac screening based on family history several years later at age 34

      CasePresentingHPOs: HP:0001640

      CaseHPOFreeText: NA

      CaseNotHPOs: NA

      CaseNotHPOFreeText: Acute viral illness and gastroenteritis

      CasePreviousTesting: NR

      Genotyping Method: Sanger Sequencing

      FunctionalAnalysis: NR

      Variant: NM_001276345.2:c.149A>G

      ClinVar: 2005620

      CAID: CA344207232

      gnomAD: 1:201337304 T / C

      AdditionalInfo: NA

      CaseInfo HGNC:11949 Gene:TNNT2 InheritancePattern:NoInheritanceAssertion DiseaseEntity:DCM Variant:Missense Zygosity:NoZygosityAssertion ClinVarID:2005620 CAID:CA344207232 FamilyInfo inferred_gene_hgnc:11949 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC3072577/
  41. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy
    2
    2. ClingenBaseline 07 Nov 2026
      the male index

      Case#: Male, 65

      DiseaseAssertion: Idiopathic dilated cardiomyopathy

      FamilyInfo:None of his five siblings were affected

      ParentalTesting: NR

      CasePresentingHPOs: HP:0005110

      CaseHPOFreeText: Slow progression to severe heart failure

      CaseNotHPOs: NR

      CaseNotHPOFreeText: NR

      CasePreviousTesting: NR

      Genotyping Method: Bidirectional dna sequencing

      FunctionalAnalysis: NR

      Variant: NM_001276345.2:c.869A>G

      ClinVar: 4881578

      CAID: CA344201883

      gnomAD: NA

      AdditionalInfo: HTX. The index patient carried a known TNNT2 K247R mutation as well as two novel intronic variants in MYH7 (IVS39+7C>A) and MYBPC3 (IVS25+13T>A).

      Gene:TNNT2 HGNC:11949 CaseInfo InheritancePattern:NoInheritanceAssertion DiseaseEntity:DCM Variant:Missense Zygosity:NoZygosityAssertion ClinVarID:4881578 CAID:CA344201883 MultipleGeneVariants inferred_gene_hgnc:11949 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC2986634/
  42. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy
    2
    2. ClingenBaseline 07 Nov 2026
      The proband

      Case#: Female, 20, non-Hispanic white

      DiseaseAssertion: Peripartum cardiomyopathy

      FamilyInfo: NR

      ParentalTesting: NR

      CasePresentingHPOs: HP:0034807, HP:0001640

      CaseHPOFreeText: NA

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: NR

      Genotyping Method: Sanger sequencing

      FunctionalAnalysis: demonstrated decreased calcium sensitivity, which indicated that this mutation was likely to be disease causing

      Variant: NM_001276345.2:c.505C>G

      ClinVar: 2953222

      CAID: CA344204620

      gnomAD: NR

      AdditionalInfo: PPCM was diagnosed one week postpartum.

      Variant:Missense Zygosity:NoZygosityAssertion DiseaseEntity:Other Gene:TNNT2 HGNC:11949 CAID:CA344204620 ClinVarID:2953222 FunctionalAnalysis inferred_gene_hgnc:11949 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC2900861/
  43. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Case report: Rare restrictive cardiomyopathy with ventricular fibrillation as initial symptom rescued by automatic external defibrillator in a pediatric patient
    2
    1. ClingenBaseline 07 Nov 2026
      7-year-old boy

      Case#:7-year-old boy

      DiseaseAssertion: restrictive cardiomyopathy

      FamilyInfo: his parents were in generally good health and other family members denied a history of syncope, sudden death or cardiomyopathy

      ParentalTesting: sanger sequencing

      CasePresentingHPOs:HP:0007185, HP:0001695, HP:0005943, HP:0002516, HP:0001663

      CaseHPOFreeText:electrocardiogram (ECG) revealed Ptf-V 1 < –0.04 mm⋅s and biphasic P waves, indicating left atrial enlargement and the chest X-ray revealed an enlarged heart shadow. The echocardiogram showed biatrial enlargement, especially in the left atrium (LA: 32 mm, RA: 30 mm), decreased diastolic function (E/A = 2.6; E Peak deceleration time 130 ms; Constant volume diastolic time 49 ms), moderate mitral valve regurgitation and left ventricular ejection fraction of 51.8%.

      CaseNotHPOs:HP:0000969

      CaseNotHPOFreeText:Except for bilateral enlargement, cardiac magnetic resonance (CMR) indicated no abnormalities

      CasePreviousTesting: brain MRI, video electrocephalogram, electrocardiogram

      Genotyping Method: sanger sequencing

      FunctionalAnalysis:

      Variant: TNNI3 c.611(exon8)G>A,p.R204H

      ClinVar:177679

      CAID:CA022060

      gnomAD:chr19-55151856-C-T

      Variant:Missense Zygosity:Heterozygous InheritancePattern:NoInheritanceAssertion DiseaseEntity:Other ClinVarID:177679 CAID:CA022060 inferred_gene_hgnc:11947 inferred_gene_source:CAID Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC9691660/
  44. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Multiple Independent Gene Disorders Causing Bardet–Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient
    2
    2. ClingenBaseline 07 Nov 2026
      a 20-year-old, female, adopted Indian patient with over 662 Mb regions of homozy-gosity who presented with intellectual disability, ataxia, schizophrenia, retinal dystrophy, moder-ate-to-severe progressive sensorineural hearing loss (SNHL), congenital hypothyroidism, cleft mi-tral valve with mild mitral valve regurgitation, and dysmorphic features.

      Case#: a 20-year-old, female, adopted Indian patient with over 662 Mb regions of homozy-gosity who presented with intellectual disability, ataxia, schizophrenia, retinal dystrophy, moder-ate-to-severe progressive sensorineural hearing loss (SNHL), congenital hypothyroidism, cleft mi-tral valve with mild mitral valve regurgitation, and dysmorphic features.

      DiseaseAssertion: a cleft mitral valve with mild regurgitation

      FamilyInfo: adopted

      ParentalTesting: not reported

      CasePresentingHPOs: HP:0001249, HP:0001251, HP:0100753, HP:0000556, HP:0000407, HP:0000851, HP:0001633, HP:0001653

      CaseHPOFreeText: cleft mitral valve and dysmorphic features

      CaseNotHPOs: HP:0001638

      CaseNotHPOFreeText: echocardiograms at 18 were normal

      CasePreviousTesting: genetic testing, including targeted panel analysis, exome sequencing on a clinical basis, and a research-based review of her raw clinical exome data, led to identifying at least three causal gene disorders to explain distinct aspects of her complex phenotype.

      Genotyping Method: Genome-wide single-nucleotide polymorphism (SNP) microarray analysis was clinically performed, with no pathogenic deletions or duplications detected.

      FunctionalAnalysis: not reported

      Variant: NM_001001430.2:c.68-1592

      ClinVar: not reported

      CAID: CA032911

      gnomAD: total allele frequency: 0.00004522

      AdditionalInfo: n/r

      Gene:TNNT2 HGNC ID:11949 DiseaseEntity:NoDiseaseAssertion Variant:Missense Zygosity:Homozygous InheritancePattern:NoInheritanceAssertion inferred_gene_hgnc:11949 inferred_gene_source:HGNC_body Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC10452740/
  45. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A novel nonsense mutation in TNNT2 in a Chinese pedigree with hypertrophic cardiomyopathy: A case report
    2
    1. ClingenBaseline 07 Nov 2026
      a 50-year-old man, was diagnosed with HCM at the age of 41 years.

      Case#: A 50-year-old man diagnosed with HCM at age 41, with asymmetric septal hypertrophy and exertional chest discomfort and pain

      DiseaseAssertion: Hypertrophic cardiomyopathy

      FamilyInfo: His third elder sister, niece and daughter were also clinically affected by HCM. The proband's mother and eldest sister had suffered from sudden cardiac death. The proband's father, second elder sister (HCM1 in Fig. 1A), nephew (HCM5 in Fig. 1A) and son (HCM7 in Fig. 1A) were 87, 65, 35, and 14 years old, respectively, and had normal echocardiographic measurements.

      ParentalTesting: The mother had died suddenly; the 87-year-old father had normal echocardiographic measurements. There was no testing reported.

      CasePresentingHPOs: HP:0001639, HP:0005144, HP:0100749, HP:0011712

      CaseHPOFreeText: chest distress and chest pain during exercise for 9 years. He presented with an asymmetric hypertrophic interventricular septum and a maximum interventricular septum thickness of 18.04 mm

      CaseNotHPOs: not reported

      CaseNotHPOFreeText: no findings found in the proband

      CasePreviousTesting: nothing reported in the article

      Genotyping Method: hole exome sequencing (WES) Exons were captured using Sure Select Human All Exon V5 kit. Sequenced by Illumina HiSeq 4000 sequencer.

      FunctionalAnalysis: not reported

      Variant: rs796925245 (g.1:201359630G>A, c.835C>T, p.Gln279Ter) (c.835C>T, p.Gln279Ter)

      ClinVar: 1175037

      CAID: CA088451

      gnomAD: not reported

      AdditionalInfo: n/r

      Gene:TNNT2 HGNC ID:11949 InheritancePattern:AutosomalDominant DiseaseEntity:HCM Variant:Nonsense Zygosity:Heterozygous CAID:CA088451 ClinVarID:1175037 inferred_gene_hgnc:11949 inferred_gene_source:HGNC_body Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC7447477/
  46. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Serine biosynthesis as a novel therapeutic target for dilated cardiomyopathy
    2
    2. ClingenBaseline 07 Nov 2026
      15-year-old patient

      Case#: 15

      DiseaseAssertion: Dilated cardiomyopathy

      FamilyInfo: NR

      ParentalTesting: NR

      CasePresentingHPOs: NA

      CaseHPOFreeText: decreased cardiac contractility

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: NR

      Genotyping Method: Sanger sequencing

      FunctionalAnalysis: NR

      Variant: NM_001276345.2:c.577C>T

      ClinVar: 834548

      CAID: CA088264

      gnomAD: NR

      AdditionalInfo: NA

      Variant:Missense Gene:TNNT2 HGNC:11949 CAID:CA088264 ClinVarID:834548 Zygosity:Homozygous CaseInfo DiseaseEntity:DCM InheritancePattern:NoInheritanceAssertion inferred_gene_hgnc:11949 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC9794189/
  47. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A homozygous variant in cardiac troponin I3, TNNI3, causes severe pediatric restrictive cardiomyopathy
    2
    1. ClingenBaseline 07 Nov 2026
      2-year-old female with severe RCM that is genetically caused by a homozygous TNNI3 nonsense variant, c.406C>T (p.Arg136∗)

      Case1: 2-year-old female

      DiseaseAssertion: restrictive cardiomyopathy, dilated cardiomyopathy

      FamilyInfo:The maternal family history was negative for any form of cardiomyopathy or sudden death. Paternal family history was unknown, the mother (1-II:2) and maternal half-brother (1-III:2) were both heterozygous for the TNNI3 p.Arg136∗ variant, mother (1-II:2, age 20) and half-brother (1-III:2, age 21 months) demonstrated normal heart function on echocardiography. ParentalTesting: Clinical exome sequencing done on mother of proband

      CasePresentingHPOs: HP:0032025, HP:0002140, HP:0005180, HP:0001653, HP:0005117

      CaseHPOFreeText: left-sided facial and extremity weakness, enlarged cardiac silhouette with interstitial opacities, dilated left and right atria, unusual morphology of the chordae tendineae of both atrioventricular valves was noted, leading to a tethering phenomenon

      CaseNotHPOs: HP:0001712,

      CaseNotHPOFreeText: normal systolic function

      CasePreviousTesting: Chest Xray, Echocardiogram, Head CT

      Genotyping Method: clinical exome sequencing

      FunctionalAnalysis: Immunostaining on heart tissue from patient, Quantitative analysis of heart tissue, Transmission electron microscopy with immersion fixed heart samples

      Variant:homozygous TNNI3 nonsense variant, c.406C>T (p.Arg136∗)

      ClinVar:488853

      CAID:CA407440677

      gnomAD:chr19-55154173-G-A v4

      DiseaseEntity:Other DiseaseEntity:DCM Variant:Nonsense Zygosity:Homozygous MultipleGeneVariants InheritancePattern:AutosomalRecessive FunctionalAnalysis ClinVarID:488853 CAID:CA407440677 inferred_gene_hgnc:11947 inferred_gene_source:CAID Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC13096904/
  48. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    MicroRNA expression profiles in familial hypertrophic cardiomyopathy with myosin-binding protein C3 (MYBPC3) gene mutations
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC9206743/
  49. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Mutation Type is Not Clinically Useful in Predicting Prognosis in Hypertrophic Cardiomyopathy
    1
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    pmc.ncbi.nlm.nih.gov/articles/PMC6309993/
  50. www.sciencedirect.com www.sciencedirect.com
    The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients
    2
    1. ClingenBaseline 07 Nov 2026
      7

      Patient7: Male

      CasePresentingHPOs: HP:0002194

      HPOsFreeText: ERT dosage = 20 mg/kg/2 w, CRIM positive

      CaseNotHPOs: HP:0004887

      NotHPOsFreeText: no reversal of HCM

      CaseAddInfo: Symptom onset and diagnosis at 3mo, ERT at 4mo, ERT lasted for 24mo, died at 28mo

      CasePMIDs: 22644586, 14695532

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant: NM_000152.4(GAA):c.655G>A (p.Gly219Arg)

      ClinVar: 189065, https://www.ncbi.nlm.nih.gov/clinvar/variation/189065/

      gnomAD: 1.666e-05, http://exac.broadinstitute.org/variant/17-78079656-G-A

      Individual CaseInfo Variant ClinVarID:189065 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 07 Nov 2026
      11

      Patient11: Female

      CasePresentingHPOs: HP:0004887, HP:0002100, HP:0006597, HP:0200136, HP:0011471

      HPOsFreeText: ERT dosage = 40mg/kg/w, HCM reversal, CRIM positive, able to run, diaphragmatic paralysis required plication at 3yo

      CaseNotHPOs: HP:0009046

      NotHPOsFreeText:

      CaseAddInfo: Symptom onset at 2mo, diagnosis at 4mo, ERT at 5mo, ERT lasted for 67mo, ventilation required at 62mo, currently 6yo

      CasePMIDs: 14695532, 14972326

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant: NM_000152.4(GAA):c.1064T>C (p.Leu355Pro)

      ClinVar: 284093, https://www.ncbi.nlm.nih.gov/clinvar/variation/284093/

      gnomAD: 8.304e-06, http://exac.broadinstitute.org/variant/17-78082197-T-C

      Individual CaseInfo Variant ClinVarID:284093 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    sciencedirect.com/science/article/pii/S221442691730160X
  51. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mass Spectrometry but not Fluorimetry Distinguishes Affected and Pseudodeficienies in Newborn Screening for Pompe Disease
    5
    1. ClingenBaseline 07 Nov 2026

      CaseOPTPD-5: Female, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 1.27 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.1222A>G (p.Met408Val)

      ClinVar: 371235 https://www.ncbi.nlm.nih.gov/clinvar/variation/371235/

      gnomAD: European (Non-Finnish) 1.790e-5, Overall 8.058e-6 http://gnomad.broadinstitute.org/variant/17-78082523-A-G

      CaseAddInfo: One Pompe Mutation allele and Two Pseudodeficency Mutation alleles, Nomenclature indicates patient is homozygous for Variant 1 and Variant 2 is in cis with one copy

      Individual CaseInfo Variant GenotypingMethod ClinVarID:371235 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 07 Nov 2026

      CaseLP2-12: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.43 umol/hr/L, Serum CK at 29 U/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1935C>A (p.Asp645Glu)

      ClinVar: 4029 https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: East Asian 1.729e-3, Overall 1.240e-4 http://gnomad.broadinstitute.org/variant/17-78086721-C-A

      Variant2: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant3: NM_000152.4:c.2482-5T>C

      ClinVar: 558320 https://www.ncbi.nlm.nih.gov/clinvar/variation/558320/

      gnomAD: Not in gnomAD

      CaseAddInfo: Late Onset Pompe Disease, Nomenclature indicates Variants 1 and 2 are in cis one one allele and Variants 2 and 3 are in cis on the other

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4029 ClinVarID:92467 ClinVarID:558320 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    3. ClingenBaseline 07 Nov 2026

      CaseOPOPD-52: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 1.05 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.1843G>A (p.Gly615Arg)

      ClinVar: 188786 https://www.ncbi.nlm.nih.gov/clinvar/variation/188786/

      gnomAD: East Asian 2.223e-4, Overall 1.640e-5 http://gnomad.broadinstitute.org/variant/17-78086465-G-A

      CaseAddInfo: One Pompe Mutation allele and One Pseudodeficency Mutation allele, 1 other patient has the same genotype

      Individual CaseInfo Variant GenotypingMethod ClinVarID:92467 ClinVarID:188786 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    4. ClingenBaseline 07 Nov 2026

      CaseOPOPD-45: Female, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 1.46 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1411_1414delGAGA (p.Glu471Profs)

      ClinVar: 188874 https://www.ncbi.nlm.nih.gov/clinvar/variation/188874/

      gnomAD: East Asian 2.513e-4, Overall 1.781e-5 http://gnomad.broadinstitute.org/variant/17-78083827-CGAGA-C

      Variant2: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      CaseAddInfo: One Pompe Mutation allele and One Pseudodeficency Mutation allele, 1 other has the same genotype

      CaseInfo Individual Variant GenotypingMethod ClinVarID:188874 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    5. ClingenBaseline 07 Nov 2026

      CaseOPOPD-4: Female, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 1.16 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.460_465del (p.Arg154_Thr155del)

      ClinVar: 551306 https://www.ncbi.nlm.nih.gov/clinvar/variation/551306/

      gnomAD: Not in gnomAD

      Variant2: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      CaseAddInfo: One Pompe Mutation and One Pseudodeficency Mutation

      Individual CaseInfo Variant GenotypingMethod ClinVarID:551306 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5524447/
  52. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease
    6
    1. ClingenBaseline 07 Nov 2026
      c.1441T > C(p.Trp481Arg)

      Case59

      HPOsFreeText: See Group Phenotypes

      CasePreviousTesting: Sanger sequencing

      CaseMethod1: Sanger sequencing and PCR Amplification

      CaseMethod2: Whole Exome Sequencing (WES)

      CaseGenotypingMethod: Patients were previously confirmed with Pompe disease by Sanger sequencing to capture the pathogenic variants. The process was repeated as part of the study taking care to amplify the coding regions and exon/intron boundaries to compare with the WES results afterwards.

      Variant1: NM_000152.4:c.1441T>C (p.Trp481Arg)

      ClinVar: 189007 https://www.ncbi.nlm.nih.gov/clinvar/variation/189007/

      gnomAD: African 8.031e-5, Overall 2.126e-5 http://gnomad.broadinstitute.org/variant/17-78084529-T-C

      Variant2: NM_000152.4:c.-32-13T>G

      ClinVar: 4027 https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: Ashkenazi Jewish 5.541e-3, Overall 3.401e-3 http://gnomad.broadinstitute.org/variant/17-78078341-T-G

      CaseAddInfo: Adult Late Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod ClinVarID:189007 ClinVarID:4027 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 07 Nov 2026
      c.925G > A(p.Gly309Arg)

      Case90

      HPOsFreeText: See Group Phenotypes

      CasePreviousTesting: Sanger sequencing

      CaseMethod1: Sanger sequencing and PCR Amplification

      CaseMethod2: Whole Exome Sequencing (WES)

      CaseGenotypingMethod: Patients were previously confirmed with Pompe disease by Sanger sequencing to capture the pathogenic variants. The process was repeated as part of the study taking care to amplify the coding regions and exon/intron boundaries to compare with the WES results afterwards.

      Variant1: NM_000152.4:c.925G>A (p.Gly309Arg)

      ClinVar: 188797 https://www.ncbi.nlm.nih.gov/clinvar/variation/188797/

      gnomAD: Ashkenazi Jewish 1.010e-4, Overall 2.860e-5 http://gnomad.broadinstitute.org/variant/17-78081665-G-A

      Variant2: NM_000152.4:c.-32-13T>G

      ClinVar: 4027 https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: Ashkenazi Jewish 5.541e-3, Overall 3.401e-3 http://gnomad.broadinstitute.org/variant/17-78078341-T-G

      CaseAddInfo: Adult Late Onset Pompe Disease, 1 other patient has the same genotype

      Individual CaseInfo Variant GenotypingMethod ClinVarID:188797 ClinVarID:4027 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    3. ClingenBaseline 07 Nov 2026
      c.2238G > A(p.Trp746*)

      Case69

      HPOsFreeText: See Group Phenotypes

      CasePreviousTesting: Sanger sequencing

      CaseMethod1: Sanger sequencing and PCR Amplification

      CaseMethod2: Whole Exome Sequencing (WES)

      CaseGenotypingMethod: Patients were previously confirmed with Pompe disease by Sanger sequencing to capture the pathogenic variants. The process was repeated as part of the study taking care to amplify the coding regions and exon/intron boundaries to compare with the WES results afterwards.

      Variant1: NM_000152.4:c.2238G>A (p.Trp746*)

      ClinVar: 370904 https://www.ncbi.nlm.nih.gov/clinvar/variation/370904/

      gnomAD: African 4.011e-5, Overall 1.063e-5 http://gnomad.broadinstitute.org/variant/17-78090815-G-A

      Variant2: NM_000152.4:c.-32-13T>G

      ClinVar: 4027 https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: Ashkenazi Jewish 5.541e-3, Overall 3.401e-3 http://gnomad.broadinstitute.org/variant/17-78078341-T-G

      CaseAddInfo: Adult Late Onset Pompe Disease, 1 other patient has the same genotype

      Individual CaseInfo Variant GenotypingMethod ClinVarID:370904 ClinVarID:4027 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    4. ClingenBaseline 07 Nov 2026
      c.2238G > A(p.Trp746*)

      Case35

      HPOsFreeText: See Group Phenotypes

      CasePreviousTesting: Sanger sequencing

      CaseMethod1: Sanger sequencing and PCR Amplification

      CaseMethod2: Whole Exome Sequencing (WES)

      CaseGenotypingMethod: Patients were previously confirmed with Pompe disease by Sanger sequencing to capture the pathogenic variants. The process was repeated as part of the study taking care to amplify the coding regions and exon/intron boundaries to compare with the WES results afterwards.

      Variant1: NM_000152.4:c.2238G>A (p.Trp746*)

      ClinVar: 370904 https://www.ncbi.nlm.nih.gov/clinvar/variation/370904/

      gnomAD: African 4.011e-5, Overall 1.063e-5 http://gnomad.broadinstitute.org/variant/17-78090815-G-A

      Variant2: NM_000152.4:c.1843G>A (p.Gly615Arg)

      ClinVar: 188786 https://www.ncbi.nlm.nih.gov/clinvar/variation/188786/

      gnomAD: East Asian 2.223e-4, Overall 1.640e-5 http://gnomad.broadinstitute.org/variant/17-78086465-G-A

      CaseAddInfo: Infantile Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod ClinVarID:370904 ClinVarID:188786 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    5. ClingenBaseline 07 Nov 2026
      c.2481+102_2646+31del (p.Gly828_Asn882del)

      Case38

      HPOsFreeText: See Group Phenotypes

      CasePreviousTesting: Sanger sequencing

      CaseMethod1: Sanger sequencing and PCR Amplification

      CaseMethod2: Whole Exome Sequencing (WES)

      CaseGenotypingMethod: Patients were previously confirmed with Pompe disease by Sanger sequencing to capture the pathogenic variants. The process was repeated as part of the study taking care to amplify the coding regions and exon/intron boundaries to compare with the WES results afterwards.

      Variant1: NM_000152.4:c.2481+102_2646+31del (p.Gly828_Asn882del) (exon 18 del)

      ClinVar: 4031 https://www.ncbi.nlm.nih.gov/clinvar/variation/4031/

      gnomAD: Not in gnomAD

      Variant2: NM_000152.4:c.1912G>T (p.Gly638Trp)

      CAID: 280954 https://www.ncbi.nlm.nih.gov/clinvar/variation/280954/

      gnomAD: African 6.752e-5, Overall 1.239e-5 http://gnomad.broadinstitute.org/variant/17-78086698-G-T

      CaseAddInfo: Infantile Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4031 ClinVarID:280954 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    6. ClingenBaseline 07 Nov 2026
      c.2560C > T(p.Arg854*)

      Case24

      HPOsFreeText: See Group Phenotypes

      CasePreviousTesting: Sanger sequencing

      CaseMethod1: Sanger sequencing and PCR Amplification

      CaseMethod2: Whole Exome Sequencing (WES)

      CaseGenotypingMethod: Patients were previously confirmed with Pompe disease by Sanger sequencing to capture the pathogenic variants. The process was repeated as part of the study taking care to amplify the coding regions and exon/intron boundaries to compare with the WES results afterwards.

      Variant1: NM_000152.4:c.2560C>T (p.Arg854*)

      ClinVar: 4034 https://www.ncbi.nlm.nih.gov/clinvar/variation/4034/

      gnomAD: African 1.891e-3, Overall 2.090e-4 http://gnomad.broadinstitute.org/variant/17-78092070-C-T

      Variant2: NM_000152.4:c.2459_2461delCTG (p.Ala820del)

      ClinVar: 456404 https://www.ncbi.nlm.nih.gov/clinvar/variation/456404/

      gnomAD: European (Non-Finnish) 6.492e-5, Overall 3.190e-5 http://gnomad.broadinstitute.org/variant/17-78091524-GGCT-G

      CaseAddInfo: Infantile Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4034 ClinVarID:456404 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5907499/
  53. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan
    4
    1. ClingenBaseline 07 Nov 2026
      30

      Patient30: Female, 1 year onset

      CasePresentingHPOs: HP:0001324, HP:0001263 (Muscle weakness, Developmental delay)

      HPOsFreeText: GAA activity 3% from leukocyte

      CaseNotHPOs: HP:0002098, HP:0002240, HP:0001640 (Respiratory distress, Hepatomegaly, Cardiomegaly)

      NotHPOsFreeText: No wheelchair needed, Respiratory Assistance not needed

      CaseAddInfo: LOPD

      Individual CaseInfo ClinVarID:426593 ClinVarID:370637 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 07 Nov 2026
      19

      Patient19: Male, 21 years report, 14 year onset

      CasePresentingHPOs: HP:0001324, HP:0002098 (Muscle weakness, Respiratory distress)

      HPOsFreeText: GAA activity 9.3% from leukocyte, Respiratory Assistance needed

      CaseNotHPOs: HP:0001640, HP:0002240 (Cardiomegaly, Hepatomegaly)

      NotHPOsFreeText: Wheelchair not needed

      CaseAddInfo: LOPD

      Individual CaseInfo ClinVarID:189082 ClinVarID:285197 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5671405/
  54. www.sciencedirect.com www.sciencedirect.com
    Novel GAA mutations in patients with Pompe disease
    1
    1. ClingenBaseline 07 Nov 2026
      1

      Case#: 1, age 36, age 30 (report)

      DiseaseAssertion: Pompe Disease

      FamilyInfo: Family 1, no further information

      CasePresenting HPOs:HP:0002878, HP:0012378, HP:0003546, HP:0001324 (Respiratory failure, fatigue, exercise intolerance, muscle weakness)

      CaseHPOFreeText: myopathy with vacuoles, biopsy with vacuolar myopathy with PAS +

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: single gene sequencing/analysis, 48.47 NaG/AaGIA, 89.61% inhibition of GAA; NaG/AaGIA above 40 and %INH above 87 are in the affected range

      Variants:

      Variant 1:NM_000152.5(GAA):c.1941C>G (p.Cys647Trp)

      ClinVar: 550327

      Variant 2: Not reported

      ParentalGenotypes: N/A

      PreviouslyPublished: N/A

      Individual CaseInfo DiseaseEntity:PompeDisease InheritancePattern:AutosomalRecessive Gene:GAA PreviousTesting:GAAAnalysis Zygosity:Heterozygous ClinvarID:550327 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    sciencedirect.com/science/article/pii/S0378111915001584
  55. www.sciencedirect.com www.sciencedirect.com
    Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease
    1
    1. ClingenBaseline 07 Nov 2026
      Supplement Table 1)

      Patient1: 7yo

      CasePresentingHPOs: HP:0001638

      HPOsFreeText: rhGAA dosage = 20QW, independent walker

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 17days old at ERT start

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.1935C>A (p.Asp645Glu)

      ClinVar: 4029, https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: 0.0001721, http://exac.broadinstitute.org/variant/17-78086721-C-A

      Variant2: NM_000152.4(GAA):c.784G>A (p.Glu262Lys)

      ClinVar: 188806, https://www.ncbi.nlm.nih.gov/clinvar/variation/188806/

      gnomAD: 1.66e-05, http://exac.broadinstitute.org/variant/17-78081447-G-A

      Individual CaseInfo Variant ClinVarID:4029 ClinVarID:188806 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    sciencedirect.com/science/article/pii/S2214426917300423
  56. ojrd.biomedcentral.com ojrd.biomedcentral.com
    Decreased outlet angle of the superior cerebellar artery as indicator for dolichoectasia in late onset Pompe disease
    1
    1. ClingenBaseline 07 Nov 2026
      P2

      Patient2: Female, 37yo

      CasePresentingHPOs: HP:0003077, HP:0001513

      HPOsFreeText: LOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 10yr disease duration, ERT lasted for 33mo

      CasePMIDs: PMID: 25614309

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.1655T>C (p.Leu552Pro)

      ClinVar: 279811, https://www.ncbi.nlm.nih.gov/clinvar/variation/279811/

      gnomAD: n/a

      Variant2: NM_000152.4(GAA):c.1478C>T (p.Pro493Leu)

      ClinVar: 379593, https://www.ncbi.nlm.nih.gov/clinvar/variation/379593/

      gnomAD: 0.00001416, http://gnomad.broadinstitute.org/variant/17-78084566-C-T

      Individual CaseInfo Variant ClinVarID:279811 ClinVarID:379593 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    ojrd.biomedcentral.com/articles/10.1186/s13023-018-0794-6
  57. www.sciencedirect.com www.sciencedirect.com
    Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease
    1
    1. ClingenBaseline 07 Nov 2026
      7

      Case7: Female, 3 years onset, 3 years diagnosis, 27 years report, France

      CasePresentingHPOs: HP:0002540, HP:0002878, HP:0004887 (Inability to walk, Respiratory failure, Respiratory failure requiring assisted ventilation)

      HPOsFreeText: Lost ambulation at 11 years, Started invasive ventilation at 11 years, Started ERT given every other week at a dose of 20 mg/kg at 18 years for 114 months, Peak Anti-rhGAA antibodies at 1:102,400, FVC at 0.22/6 (L / % expected), MIP at 10 (cm H2O), MEP at 10 (cm H2O), Time off ventilation stayed constant at 0 min, Total Motor Function Measure from 23 to 19, 6MWT stayed constant at 0 meters

      CaseNotHPOs: HP:0030148 (Heart murmur)

      NotHPOsFreeText: No adverse reaction to ERT was recorded

      CaseAddInfo: Late Onset Pompe Disease

      Individual CaseInfo ClinVarID:188728 ClinVarID:557292 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    sciencedirect.com/science/article/pii/S1096719217303360
  58. www.liebertpub.com www.liebertpub.com
    Clinical and Molecular Characterization of Infantile-Onset Pompe Disease in Mainland Chinese Patients: Identification of Two Common Mutations | Genetic Testing and Molecular Biomarkers
    2
    1. ClingenBaseline 07 Nov 2026
      PD25

      Patient25: Male, Southern China

      CasePresentingHPOs:

      HPOsFreeText: IOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: c.971dupC (p.Ser325GlufsX5) no ClinVar or CAID

      Variant2: NM_000152.4(GAA):c.1802C>T (p.Ser601Leu)

      ClinVar: 194154, https://www.ncbi.nlm.nih.gov/clinvar/variation/194154/

      gnomAD: n/a

      Individual CaseInfo Variant ClinVarID:194154 UnregisteredVariant inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 07 Nov 2026
      PD10

      Patient10: Male, Southern China

      CasePresentingHPOs:

      HPOsFreeText: IOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.2105G>A (p.Arg702His)

      ClinVar: 426278, https://www.ncbi.nlm.nih.gov/clinvar/variation/426278/

      gnomAD: 6.695e-05, http://exac.broadinstitute.org/variant/17-78087081-G-A

      Variant2: NM_000152.4(GAA):c.2297A>C (p.Tyr766Ser)

      ClinVar: 420102, https://www.ncbi.nlm.nih.gov/clinvar/variation/420102/

      gnomAD: 8.35e-06, http://exac.broadinstitute.org/variant/17-78090874-A-C

      Individual CaseInfo Variant ClinVarID:426278 ClinVarID:420102 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    liebertpub.com/doi/full/10.1089/gtmb.2016.0424
  59. www.sciencedirect.com www.sciencedirect.com
    A Case of Adult-onset Pompe Disease with Cerebral Stroke and Left Ventricular Hypertrophy
    1
    1. ClingenBaseline 07 Nov 2026
      The patient is a 59-year-old Japanese female

      Case: Female, 59yo, Japanese, non-consanguineous family

      CasePresentingHPOs: HP:0002515, HP:0001290, HP:0009055, HP:0002015, HP:0002098, HP:0002315, HP:0007340, HP:0004944, HP:0002138, HP:0001297, HP:0000822, HP:0001288, HP:0002788, HP:0003236, HP:0002119, HP:0002415, HP:0012444, HP:0001922, HP:0012529

      HPOsFreeText: 3mm aneurysm in left middle cerebral artery, underwent cerebral arterial clipping, muscle atrophy more significant in proximal muscles of lower limbs, hypotonia more significant in right thigh, CPK = 327mg/dL, alanine aminotransferase = 44mg/dL, aspartate aminotransferase = 42mg/dL, lactic dehydrogenase = 266mg/dL, low-density lipoprotein = 162mg/dL, flattened diaphragm, left atrial ventricular enlargement with mass = 156g, left ventricular index = 106g/m^2, extensor muscle atrophy, diffuse fibrosis in thighs, multiple infractions, bilateral tortuous irregular cerebral arteries, GAA activity = 1.3 pmol hour^-1 punch^-1, vacuolated platelets, glycogen accumulation, large lysosomes filled with membrane bound deposition in fibroblasts

      CaseNotHPOs: HP:0003691, HP:0012195, HP:0030850, HP:0010535, HP:0000365, HP:0000505, HP:0002111

      NotHPOsFreeText: regurgitation

      CaseAddInfo: Hypertension developed at 40yo and was treated with antihypertensive drugs. Cerebral stroke at 57yo. Father died at 82yo due to cardiac aneurism and arterial thrombosis. Mother had left ventricular hypertrophy and died at 62yo due to colon carcinoma. Sister had psychiatric illness. Her 2 sons were healthy.

      CasePreviousTesting: CT scan, chest x-ray, echocardiogram, MRI, DBS, electron microscopy of blood cells, skin biopsy

      CaseGenotypingMethod: PCR and direct DNA sequencing of GAA gene, cDNA-sequencing analysis

      Variant: NM_000152.4(GAA):c.546G>T (p.Thr182=), homozygous

      ClinVar: 370637, https://www.ncbi.nlm.nih.gov/clinvar/variation/370637/

      gnomAD: n/a

      Individual CaseInfo Variant EnzymeActivity ClinVarID:370637 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    sciencedirect.com/science/article/pii/S1052305718303720
  60. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Three cases of multi‐generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?
    1
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1002/ajmg.a.38369
  61. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Effects of a higher dose of alglucosidase alfa on ventilator‐free survival and motor outcome in classic infantile Pompe disease: an open‐label single‐center study
    1
    1. ClingenBaseline 07 Nov 2026
      7

      Patient7: Male, 3.8mo at ERT start, 3.3yo at study end

      CasePresentingHPOs:

      HPOsFreeText: treated with 40mg/kg/wk, patient had 10 infusion associated reactions

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NC_000017.11:g.(?80118193)(80118357_?)del (c.2481 + 102_2646 + 31del)

      ClinVar: 456368, https://www.ncbi.nlm.nih.gov/clinvar/variation/456368/

      gnomAD: n/a

      Variant2: NM_000152.4(GAA):c.525delT (p.Glu176Argfs)

      ClinVar: 4033, https://www.ncbi.nlm.nih.gov/clinvar/variation/4033/

      gnomAD: 0.00009959, http://gnomad.broadinstitute.org/variant/17-78078909-CT-C

      Individual CaseInfo Variant ClinVarID:456368 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
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    onlinelibrary.wiley.com/doi/full/10.1007/s10545-015-9912-y
  62. link.springer.com link.springer.com
    Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD)
    1
    1. ClingenBaseline 07 Nov 2026
      4

      Patient4: 19yo

      CasePresentingHPOs:

      HPOsFreeText: hyperCKemia, GAA = 24%, BMI = 26.1, normal CTA and CT

      CaseNotHPOs:

      NotHPOsFreeText: No cardiovascular risk

      CaseAddInfo: 12yr disease duration

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant: NM_000152.4(GAA):c.1771C>T (p.Arg591Trp)

      ClinVar: 551782, https://www.ncbi.nlm.nih.gov/clinvar/variation/551782/

      gnomAD: 8.662e-06, http://exac.broadinstitute.org/variant/17-78086393-C-T

      Individual Variant CaseInfo EnzymeActivity ClinVarID:551782 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    link.springer.com/article/10.1007/s10545-015-9913-x
  63. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease
    2
    1. ClingenBaseline 07 Nov 2026
      PD/Pathogenic-9

      CasePD/Pathogenic-9: 3 weeks diagnosis

      HPOsFreeText: GAA activity 8.4 (nmol · h−1 · mg−1), Mean percentage of normal 11.7%

      GenotypingMethod: Newborn Screening Panels

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.2065G>A (p.Glu689Lys)

      ClinVar: 4030 https://www.ncbi.nlm.nih.gov/clinvar/variation/4030/

      gnomAD: East Asian 0.2355, Overall 0.05524 http://gnomad.broadinstitute.org/variant/17-78087041-G-A

      Variant3: NM_000152.4:c.2662G>T (p.Glu888Ter)

      ClinVar: 578595 https://www.ncbi.nlm.nih.gov/clinvar/variation/578595/

      gnomAD: East Asian 2.719e-4, Overall 1.998e-5 http://gnomad.broadinstitute.org/variant/17-78092467-G-T

      CaseAddInfo: Patient has one pseudodeficency allele and one pathogenic allele, Nomenclature claims Variant 1 and 2 are in cis

      Individual CaseInfo Variant GenotypingMethod ClinVarID:92467 ClinVarID:4030 ClinVarID:578595 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 07 Nov 2026
      LOPD-16

      CaseLOPD-16: 2.5 weeks diagnosis

      HPOsFreeText: GAA activity 2.5 (nmol · h−1 · mg−1), Mean percentage of normal 3.6%

      GenotypingMethod: Newborn Screening Panels

      Variant1: NM_000152.4:c.-32-13T>G

      ClinVar: 4027 http://www.ncbi.nlm.nih.gov/clinvar/variation/4027

      gnomAD: Ashkenazi Jewish 5.541e-3, Overall 3.401e-3 http://gnomad.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NM_000152.4:c.2065G>A (p.Glu689Lys)

      ClinVar: 4030 https://www.ncbi.nlm.nih.gov/clinvar/variation/4030/

      gnomAD: East Asian 0.2355, Overall 0.05524 http://gnomad.broadinstitute.org/variant/17-78087041-G-A

      Multiple interpretations of p.W746C possible, below is considered the most likely

      Variant3: NM_000152.4:c.2238G>C (p.Trp746Cys)

      ClinVar: 265160 https://www.ncbi.nlm.nih.gov/clinvar/variation/265160/

      gnomAD: European (Non-Finnish) 5.673e-4, Overall 3.083e-4 http://gnomad.broadinstitute.org/variant/17-78090815-G-C

      CaseAddInfo: Late Onset Pompe Disease, Nomenclature claims Variant 2 and 3 are in cis

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4027 ClinVarID:4030 ClinVarID:265160 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5413112/
  64. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease
    1
    1. ClingenBaseline 07 Nov 2026
      20 mg/kg (N = 16)

      Case10HPOsFreeText: 20 mg/kg GAA treatment, GAA activity at 0.2 pmol/punch/hr, GAA activity at 33% lower limit of normal

      CaseAddInfo: Late Onset Pompe Disease

      CaseGenotypingMethod: Method not described, only that the diagnosis was "confirmed … based on 2 GAA gene mutations"

      Variant1: NM_000152.4:c.-32-13T>G

      ClinVar: 4027 https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: Ashkenazi Jewish 5.541e-3, Overall 3.401e-3 https://gnomad.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NM_000152.4:c.1548G>A (p.Trp516Ter)

      ClinVar: 189025 https://www.ncbi.nlm.nih.gov/clinvar/variation/189025/

      gnomAD: European (Non-Finnish) 1.552e-5, Overall 7.079e-6 https://gnomad.broadinstitute.org/variant/17-78084636-G-A

      CaseAddInfo: Patient is compound heterozygous for this variant

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4027 ClinVarID:189025 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5571484/
  65. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Pompe disease in Austria: clinical, genetic and epidemiological aspects
    2
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    ncbi.nlm.nih.gov/pmc/articles/PMC5760608/
  66. ojrd.biomedcentral.com ojrd.biomedcentral.com
    Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy
    1
    1. ClingenBaseline 07 Nov 2026
      25/F

      Patient25: Female

      CasePresentingHPOs: HP:0004887

      HPOsFreeText: CRIM positive, Anti-rh GGA antibodies maximum titer = ≤ 1:400, tracheostomy, able to sit independently

      CaseNotHPOs: HP:0025156, HP:0002546, HP:0000365

      NotHPOsFreeText: infusion associated reaction

      CaseAddInfo: variants in trans, symptom onset at 2yo, diagnosis at 3yo, ERT at 4yo

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.784G>A (p.Glu262Lys)

      ClinVar: 188806, https://www.ncbi.nlm.nih.gov/clinvar/variation/188806/

      gnomAD: 0.00001417, http://gnomad.broadinstitute.org/variant/17-78081447-G-A

      Individual CaseInfo Variant ClinVarID:188806 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    ojrd.biomedcentral.com/articles/10.1186/s13023-018-0771-0
  67. www.sciencedirect.com www.sciencedirect.com
    Quantification of muscle pathology in infantile Pompe disease
    1
    1. ClingenBaseline 07 Nov 2026
      P7

      Patient7: Male, 4.5mo at diagnosis and ERT

      CasePresentingHPOs:

      HPOsFreeText: classic IOPD, moderate response to ERT, Pompe muscle pathology score = 3.5, Glycogen = 31.4 Vv(PAS + /mf)%, larger empty vacuoles = 38.1 Vv (LEV/mf)%, Autophagic vacuoles = 0,06 %/mf

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: homozygous, biopsy taken from  musculus vastus lateralis

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant: NM_000152.5(GAA):c.2078dup(p.Ala694Glyfs)

      ClinVar: 180143, https://www.ncbi.nlm.nih.gov/clinvar/variation/180143/

      gnomAD: n/a

      Individual Variant CaseInfo ClinVarID:180143 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    sciencedirect.com/science/article/pii/S0960896616307891
  68. www.sciencedirect.com www.sciencedirect.com
    Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease
    1
    1. ClingenBaseline 07 Nov 2026
      2

      CaseVI,2: Adult onset, 61 years diagnosis

      CasePresentingHPOs: HP:0003701, HP:0002795, HP:0003388, HP:0003236, HP:0003198 (Proximal muscle weakness, Abnormal respiration, Easy fatiguability, Increased serum CK, Myopathy)

      HPOsFreeText: GAA activity from dried blood spot: 0.22%, Forced Vital Capacity Seated: 2040 (46%), 6-Minute Walking Test: 418 min, Plasma CK 2.5-5x Normal

      CaseAddInfo: Late-Onset Pompe Disease

      Individual CaseInfo ClinVarID:280063 ClinVarID:4027 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    sciencedirect.com/science/article/pii/S096089661731489X
  69. www.sciencedirect.com www.sciencedirect.com
    Pharmacological Enhancement of Mutated α-Glucosidase Activity in Fibroblasts from Patients with Pompe Disease
    1
    1. ClingenBaseline 07 Nov 2026
      1

      Patient1: Italian

      CasePresentingHPOs:

      HPOsFreeText: non-classic IOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: homozygous

      CasePMIDs:

      CasePreviousTesting:

      CaseGenotypingMethod: method not described

      Variant: NM_000152.4(GAA):c.1655T>C (p.Leu552Pro)

      ClinVar: 278911, https://www.ncbi.nlm.nih.gov/clinvar/variation/279811/

      gnomAD: 0.00003188, https://gnomad.broadinstitute.org/variant/17-78085800-T-C

      Individual CaseInfo Variant ClinVarID:278911 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
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    sciencedirect.com/science/article/pii/S1525001616313107
  70. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Late‐onset pompe disease in Iran: A clinical and genetic report
    1
    1. ClingenBaseline 07 Nov 2026
      6a

      Family 6 - Patients 6a and 6b

      FamilyPresentingHPOs: HP:0007340, HP:0003701, HP:0000467, HP:0003327, HP:0200136, HP:0003691, HP:0003306, HP:0002650, HP:0040081, HP:0002111, HP:0100284

      HPOsFreeText: myopathic muscle unit action potentials, 6a muscle pathology with vacuolar myopathy with glycogen excess

      FamilyNotHPOs: HP:0010628

      Ethnicity: Iranian

      ProbandLabel: 6a, male, 12yo at onset, 25yo at diagnosis

      FamilyAddInfo: 6b (male) dx at 33yo, 6a MRC sum score = 78, 6b MRC sum score = 79, both patients required use of NIV

      FamilyPreviousTesting: Respiratory Evaluation: 6a FVC = 19%, 6b FVC = 38%, 6a CK = 820 U/L, 6b CK = 503 U/L, muscle pathology (examined only in 6a), DBS enzyme activity (with inhibition) for 6a = 0 μmol/L/h, for 6b = 0.21 μmol/L/h, NCS, EMG

      FamilyGenotypingMethod: GAA analyzed with Sanger Sequencing for entire coding region and conserved exon-intron splice junctions, PCR performed for deletion screening

      Variant: NM_000152.4(GAA):c.1979G>A (p.Arg660His)

      ClinVar: 189172, https://www.ncbi.nlm.nih.gov/clinvar/variation/189172/

      gnomAD: 3.279e-05, http://exac.broadinstitute.org/variant/17-78086765-G-A

      Family FamilyInfo GenotypingMethod PreviousTesting Variant EnzymeActivity ClinVarID:189172 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    onlinelibrary.wiley.com/doi/full/10.1002/mus.25413
  71. air.unimi.it air.unimi.it
    Effects of short‐to‐long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)
    1
    1. ClingenBaseline 07 Nov 2026
      7

      Case7: Female, 37 years onset, 38 years diagnosis, Italy

      HPOsFreeText: See Group Phenotypes, ERT started at 40, GAA Activity at ~4.5 pmol/min/mg before ERT and ~5.5 after

      GroupGenotypingMethod: PCR Amplification and GAA Gene Sequencing

      Variant1: NM_000152.4:c.-32-13T>G

      ClinVar: 4027 https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: Ashkenazi Jewish 5.541e-3, Overall 3.401e-3 http://gnomad.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NM_000152.4:c.2237G>A (p.Trp746Ter)

      ClinVar: 280063 https://www.ncbi.nlm.nih.gov/clinvar/variation/280063/

      gnomAD: European (Non-Finnish) 8.834e-6, Overall 3.988e-6 http://gnomad.broadinstitute.org/variant/17-78090814-G-A

      CaseAddInfo: Late Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4027 ClinVarID:280063 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    air.unimi.it/retrieve/handle/2434/514084/879921/Ripolone_et_al-2017-Neuropathology_and_Applied_Neurobiology AIR.pdf
  72. jnnp.bmj.com jnnp.bmj.com
    LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population
    1
    1. ClingenBaseline 07 Nov 2026
      16

      Case#: Patient 16, female

      CasePresentingHPOs: HP:0003325

      CaseAddInfo: onset and diagnosis at 32yo

      VariantAllele1: NM_000152.4(GAA):c.-32-13T>G

      ClinVar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      VariantAllele2: NC_000017.11:g.(?80118193)(80118357_?)del

      ClinVar: 456368, https://www.ncbi.nlm.nih.gov/clinvar/variation/456368/

      gnomAD: n/a

      Individual CaseInfo ClinVarID:4027 ClinVarID:456368 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    jnnp.bmj.com/content/87/1/5
  73. www.sciencedirect.com www.sciencedirect.com
    Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5 years
    1
    1. ClingenBaseline 07 Nov 2026
      11

      Patient11: Female, 39yo at diagnosis, 53yo at ERT

      CasePresentingHPOs:

      HPOsFreeText: anti rh-GAA antibodies titre = 1:400, enzyme (μmol/g/h) = 0.41 (3-20), NIV required only after ERT began, mobility aid required before and after ERT

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 21yr disease duration, variants in trans

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.1548G>A (p.Trp516Ter)

      ClinVar: 189025, https://www.ncbi.nlm.nih.gov/clinvar/variation/189025/

      gnomAD: n/a

      Variant2: NM_000152.4(GAA):c.2799+4A>G

      ClinVar: 286228, https://www.ncbi.nlm.nih.gov/clinvar/variation/286228/

      gnomAD: 8.319e-06, http://exac.broadinstitute.org/variant/17-78092608-A-G

      Individual Variant CaseInfo EnzymeActivity ClinVarID:189025 ClinVarID:286228 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    sciencedirect.com/science/article/pii/S1096719216300129
  74. ojrd.biomedcentral.com ojrd.biomedcentral.com
    Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness
    1
    1. ClingenBaseline 07 Nov 2026
      7

      Patient7: female, Serbian

      CasePresentingHPOs: HP:0003677, HP:0003236, HP:0003325

      HPOsFreeText: CK < 10x increase

      CaseNotHPOs: HP:0002093

      CaseAddInfo: onset in middle age

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant 1: NM_000152.4(GAA):c.2269C>T (p.Gln757Ter)

      ClinVar: 429727, https://www.ncbi.nlm.nih.gov/clinvar/variation/429727/

      gnomAD: n/a

      Variant2: NM_000152.4(GAA):c.-32-13T>G

      Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      Individual CaseInfo Variant ClinVarID:429727 ClinVarID:4027 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    ojrd.biomedcentral.com/articles/10.1186/s13023-017-0722-1
  75. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Von Hippel-Lindau disease in a Newfoundland kindred.
    1
    1. ClingenBaseline 07 Nov 2026
      recognized in a large family that originated in Newfoundland but has some members who live in New Brunswick and Ontario. A collaborative investigation was begun in 1982 to document the number of affected members and the extent of their disease and to improve management of the disease. The condition has been documented in 38 members of the family, 28 living and 10 dead. The most common manifestations are retinal angioma (present in 60% of the gene carriers) and pheochromocytoma (present in 53%). Of the 28 living affected members 14 had been identified before the study began. Only 3 of the 14 patients in whom the disease was subsequently diagnosed presented with symptoms; in the remaining 11 the condition was detected by routine screening. Overall the mean age at the time of diagnosis was 23 years; in the 21 affected members of the fourth generation it was 18 years.

      PatientID: IV-1

      KindredID: 1

      Case: M, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Assumed VHL

      FamilyInfo: 38 family members had been affected at the date of 1986, and 10 had passed away. Pheochromocytoma, cerebellar, spinal and retinal hemangioblastomas, and various cysts were clinical manifestations of VHL seen throughout the family. This patient (IV-1) appears to have inherited this disease from his father, along with many of his siblings. See Fig. 1 for family pedigree.

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: This member had pheochromocytoma which was not further described.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: Although never given at the time of this publication, the germline mutation is confirmed in this family in later publications (PMID 7987306; 29437867) for this specific family. It is only here assumed this member had the VHL mutation.

      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?dataset=gnomad_r2_1

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R167W (c.499C>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:N/A DiseaseEntity:pheochromocytoma cDNAposition:499 CivicName:R167W(c.499C>T) ProteinPosition:167 AminoAcidChange:ARGtoTRP MutationType:missense_variant;transition FamilyPedigree Familial ClinVarID:2218 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC1490656/
  76. 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 07 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 Q73Rfs*86 (c.217del) germline mutation was found in a VHL type 1 patient with hemangioblastomas of the central nervous system and retinal angiomas (family ID 98). The variant was reported as c.428del and mapped to c.215del which is equivalent to c.217del.

      EvidenceStatement ClinVarID:N/A CAID:CA432536422 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/10761708/
  77. link.springer.com link.springer.com
    Von Hippel-Lindau disease and rapidly progressing pheochromocytomas in siblings
    1
    1. ClingenBaseline 07 Nov 2026
      This patient's brother (3 years younger) was followed with the similar accelerated screening protocol of biannual visits with alternating US and plasma catecholamines from the age of 5. At 11 years, the brother had a normal abdominal US, but, 6 months after, he was found to have plasma norepinephrine at 51,506 pmol/L, a 36-fold increase compared to the preceding year. MRI revealed a 3.5 cm adrenal mass, which at retroperitoneoscopic surgery required total adrenalectomy for excision. Pathology confirmed a 2.9 cm pheochromocytoma without residual tumor at the margins. This patient is followed since with a second version of an accelerated regimen. The second iteration of an accelerated regimen consists of biannual plasma catecholamines and visits with annual US. The brother is currently well after 2 years and a half of surveillance.

      PatientID: N/A (younger son of index case)

      KindredID: 1

      Case: M, 13Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: The patient's mother was the index case in this VHL family, as she was diagnosed with bilateral pheochromocytoma at age 23 and underwent bilateral adrenalectomy. Genetic screening of the mother revealed the VHL variant, which prompted screening of family members. DNA sequencing from blood of consenting family members confirmed the presence of the VHL variant in seven family members (three generations from the maternal side) (see figure 1 for familial pedigree). This included the mother (index case), the patient, his brother, maternal grandmother, uncle and two cousins. The brother, who was 3 years older, was asymptomatic until age 7, where an abdominal ultrasound revealed a left adrenal mass. A total adrenalectomy was performed and at age 1 another mouse was found in the right adrenal gland, which was also removed. 6 years later he was asymptomatic. The uncle developed hemangioblastoma, multiple bilateral renal cell carcinomas, bilateral pheochromocytomas, and succumbed to his disease at age 45. The uncle's two daughters both had the mutation. One of which was found to have pheochromocytoma at age 15 due to routine screening. The other 8 year old daughter has not had any manifestations. No phenotype was noted for the grandmother.

      CasePresentingHPOs: HP:0006748 (adrenal pheochromocytoma)

      CaseHPOFreeText: Patient presented with an adrenal mass at 11Y0M, which required total adrenalectomy and remains well 2.5 years later.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V170G (c.509T>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351756196, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.509T%3EG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; tranversion

      CivicName: V170G (c.509T>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transversion AssumedRefSeq:NM_000551.3 Familial FamilyPedigree ClinVarID:N/A CAID:CA351756196 CivicName:V170G(c.509T>G) cDNAPosition:509 ProteinPosition:170 AminoAcidChange:VALtoGLY DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:adrenalpheochromocytoma:11 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    link.springer.com/article/10.1007/s10689-021-00252-2
  78. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions
    2
    1. ClingenBaseline 07 Nov 2026

      GroupID: 237

      DiseaseAssertion: VHL

      GroupSize: 2

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: French

      GroupAgeRange: N/A

      GroupInfo: 2 members of this family were found to harbor a germline large rearrangement of the VHL gene. Member 7398 had no renal involvement. Member 645 presented with severe renal disease (RCC). Families were recruited from the French VHL Registry. Enrolment in the study required identification of the germline VHL mutation (currently 85% of the families included in the French VHL Registry) and available data regarding renal phenotype. A total of 126 families fulfilled these criteria.

      GroupPresentingHPOs: HP:0005584 (Renal cell carcinoma)

      GroupHPOFreeText: Severe renal disease (any solid lesion before 25 years of age, five or more solid lesions within one or two kidneys, or metastasis of renal cell carcinoma).

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: Paper states that this family is previously reported in PMID 12202531, where 12 individuals with this mutation are reported. It is unclear which of the previously reported individuals correspond to which of the currently reported families/individuals (i.e. families 40, 90, 174, 237, 264, 284, 307 or 394).

      SupplementalData: Phenotype and genotype information can be found in Supplementary Table S1.

      Variant: Rearrangement

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: rearrangement_region

      CivicName: Rearrangement

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:French DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma Mutation:Germline RefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:N/A MutationType:rearrangement_region CivicName:Rearrangement Familial FamilyCohort SupplementalData UnregisteredVariant inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    2. ClingenBaseline 07 Nov 2026

      GroupID: 51

      DiseaseAssertion: VHL

      GroupSize: 4

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: French

      GroupAgeRange: N/A

      GroupInfo: 4 members of this family were found to harbor the c.571delC germline variant of the VHL gene. Members 2127, 1184 and 1182 had unknown renal involvement. Member 1183 presented with severe renal disease (RCC). Families were recruited from the French VHL Registry. Enrolment in the study required identification of the germline VHL mutation (currently 85% of the families included in the French VHL Registry) and available data regarding renal phenotype. A total of 126 families fulfilled these criteria.

      GroupPresentingHPOs: HP:0005584 (Renal cell carcinoma)

      GroupHPOFreeText: Severe renal disease (any solid lesion before 25 years of age, five or more solid lesions within one or two kidneys, or metastasis of renal cell carcinoma).

      GroupNotHPOs: N/A

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: Paper states that this family is previously reported in PMID 12202531 and/or 9829912, where 1 and 1 individuals respectively with this mutation are reported. It is unclear if one or both of these previously reported groups are the same as the current family.

      SupplementalData: Phenotype and genotype information can be found in Supplementary Table S1.

      Variant: p.H191Tfs*11 (c.571del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA658795182, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.571del

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: deletion; minus_1_frameshift_variant

      CivicName: H191Tfs*11 (c.571del)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:French DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma Mutation:Germline RefSeq:NM_000551.3 cDNAposition:571 ProteinPosition:191 AminoAcidChange:HIStoTHR ClinVarID:N/A CAID:CA658795182 MutationType:minus_1_frameshift_variant MutationType:deletion CivicName:H191Tfs*11(c.571del) Familial FamilyCohort SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/15300849/
  79. academic.oup.com academic.oup.com
    Familial pheochromocytoma associated with a novel mutation in the von Hippel-Lindau gene
    1
    1. ClingenBaseline 07 Nov 2026
      709 G-->T transversion present in all affected subjects and in four presymptomatic children.

      PatientID: II:9

      KindredID: 1

      Case: M, Age Unknown, Jewish

      DiseaseAssertion: VHL

      FamilyInfo: This kindred of Jewish-Kurdish origin consisted of 3 generations of 25 members. 7 were clinically affected subjects with pheochromocytoma (5 of which had the confirmed mutation - I:1, II:2, II:4, II:7 and II:9, as the other 2, II:5 and II:10 were said to have passed due to complications of the disease - prior to any genetic testing), and 4 others were carriers, or pre-symptomatic (III:1, III:3, III:7 and III:12). Subject 11:7 developed a cerebellar hemangioblastoma 25 yr after his initial diagnosis of pheochromocytoma, leading to the clinical diagnosis of VHL in the kindred.

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

      CaseHPOFreeText: patient had bilateral pheochromocytoma, and extra-adrenal chromafin tumors (abdominal paraganglioma). He also had malignant disease with local recurrence

      CaseNotHPOs: HP:0005584 (renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 33471715

      SupplementalData: N/A

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

      LegacyVariant: p.V166F (c.709G>T)

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      VariantEvidence: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: V166F (c.496G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:paraganglioma Ethnicity:Jewish Familial FamilyPedigree Mutation:Germline AssumedRefSeq:AF010238.1 ClinVarID:2224 ClinVarID:Yes cDNAposition:496 CivicName:V166F(c.496G>T) AminoAcidChange:VALtoPHE ProteinPosition:166 MutationType:missense_variant;transversion inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    academic.oup.com/jcem/article/81/1/147/2649376
  80. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genotype-phenotype correlations in Chinese von Hippel–Lindau disease patients
    3
    1. ClingenBaseline 07 Nov 2026

      PatientID: 25

      KindredID: 7

      Case: M, 58Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: The proband, patient 23, had a brother (patient 24) and father (patient 25) who were both genetically confirmed with the mutation. The brother presented with a CNS hemangioblastoma, renal cell carcinoma, and pancreatic cysts/tumors at age 32. The father presented with renal cell carcinoma and pancreatic cysts/tumors at age 58.

      CasePresentingHPOs: HP:0001737; HP:0001732; HP:0005584 (Pancreatic cysts, Abnormality of the pancreas, Renal cell carcinoma)

      CaseHPOFreeText: The proband's father, patient 25, presented with renal cell carcinoma and multiple pancreatic cysts/tumors.

      CaseNotHPOs: HP:0002666; HP:0009711; HP:0010797 (Pheochromocytoma, Retinal capillary hemangioma, Hemangioblastoma)

      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: p.R69Afs*63 (c.204_205insG)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA913189244; https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.204_205insG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: plus_1_frameshift_variant

      CivicName: R69AFS*63 (c.204_205insG)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline AssumedRefSeq:NM_000551.3 SupplementalData Familial DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:abnormalityofthepancreas DiseaseEntity:pancreaticcysts AgeOfPresentation:renalcellcarcinoma:58 AgeOfPresentation:abnormalityofthepancreas:58 AgeOfPresentation:pancreaticcysts:58 MutationType:plus_1_frameshift_variant ClinvarID:N/A CAID:CA913189244 cDNAposition:204 CivicName:R69AFS*63(c.204_205insG) ProteinPosition:69 AminoAcidChange:ARGtoALA inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 07 Nov 2026

      PatientID: 251

      KindredID: 96

      Case: F, 44Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: The proband (patient 250) presented with a CNS hemangioblastoma at 23, retinal angioma at 17, and multiple pancreatic cysts/tumors at 19. His mother (patient 251) presented with a CNS hemangioblastoma at age 43, retinal angioma at 35, renal cell carcinoma/multiple pancreatic cysts/tumors at 44.

      CasePresentingHPOs: HP:0010797; HP:0009711; HP:0001737; HP:0001732; HP:0005584 (Hemangioblastoma, Retinal capillary hemangioma, Pancreatic cysts, Abnormality of the pancreas, Renal cell carcinoma)

      CaseHPOFreeText: The patient's mother presented with a CNS hemangioblastoma at age 43, retinal angioma at 35, renal cell carcinoma/multiple pancreatic cysts/tumors at 44.

      CaseNotHPOs: HP:0002666 (Pheochromocytoma)

      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 1 Deletion (c.1-?_340+?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 1 Deletion

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma DiseaseEntity:abnormalityofthepancreas DiseaseEntity:pancreaticcysts AgeOfPresentation:hemangioblastoma:43 AgeOfPresentation:retinalcapillaryhemangioma:35 AgeOfPresentation:renalcellcarcinoma:44 AgeOfPresentation:pancreaticcysts:44 AgeOfPresentation:abnormalityofthepancreas:44 MutationType:exon_loss_variant UnregisteredVariant CivicName:Exon1Deletion Familial SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
    3. ClingenBaseline 07 Nov 2026

      A retrospective cohort study included all the VHL patients diagnosed at Peking University First Hospital (Beijing, China) prior to June 1 2016. A total of 291 patients from 115 different families were included for analysis. This mutation was found in family #23 with 4 members genetically confirmed for the mutation and 7 affected members. The male proband (patient 60) was diagnosed with CNS hemangioblastoma at 25Y, retinal angioma at 25Y, renal cell carcinoma at 30Y, multiple pancreatic cysts or tumours at 30Y (mutation confirmed); son of unknown age (patient 61) with no manifestations (mutation confirmed); daughter of unknown age (patient 62) with no manifestations (mutation confirmed); father (patient 63) diagnosed with CNS hemangioblastoma at 35Y and retinal angioma at 35Y (passed away before diagnosis/ before mutation confirmed); Sister (patient 64) diagnosed with CNS hemangioblastoma at 24Y, and multiple pancreatic cysts or tumours at 31Y (passed away before diagnosis/ before mutation confirmed); aunt 1 (patient 65) diagnosed with CNS hemangioblastoma at 35Y; aunt 2 (patient 66) diagnosed with CNS hemangioblastoma at 20Y (passed away before diagnosis/ before mutation confirmed); aunt 3 diagnosed with CNS hemangioblastoma at 44Y (passed away before diagnosis/ before mutation confirmed); son of aunt 3 (patient 67) diagnosed with CNS hemangioblastoma at 26Y (mutation confirmed).This cohort was also published in a paper by Wang et al., 2018 (PMID: 29330336).

      EvidenceStatement ClinVarID:2220 ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5503545/
  81. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genotype-phenotype correlation in von Hippel-Lindau disease
    1
    1. ClingenBaseline 07 Nov 2026
      c.292T > C p.Tyr98His

      216 patients with clinically expected VHL disease due to family history or presence of VHL typical tumours were routinely examined in an eye centre in Germany between January 2019 and January 2020, majority of which were of European descent (~95%). Since data on the genotype–phenotype correlation of the onset of Retinal Hemangioblastoma (RH) is scarce in relation to VHL disease, this study wanted to inversitage the relationship between VHL gene variants (truncating vs single amino acid substitutions) and the ocular phenotype of the disease. 42 different rare VHL gene variants in 148 patients were detected - some of whom had RH and some who did not. Although date of onset of RH, as well as data on central nervous system haemangioblastomas (CNSH), pheochromocytoma/paraganglioma (PPGL), clear cell renal cell carcinoma (ccRCC) and pancreatic neuroendocrine neoplasm (PNEN) were collected, it was not reported on a per patient basis and therefore could not be discussed per variant. Out of the 72 patients with a p.Y98H (c.292T>C) mutation, 57% (41/72) of individuals had RH while the other 43% (31/72) did not. No family information was provided.

      ClinVarID:2223 EvidenceStatement inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/10.1111/aos.14843
  82. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel–Lindau (VHL) disease
    1
    1. ClingenBaseline 07 Nov 2026

      PatientID: 5

      KindredID: 5

      Case: M, 43Y0M, Korean

      DiseaseAssertion: VHL

      FamilyInfo: No family history of VHL.

      CohortInfo: 26 Korean patients with more than one HAB in the CNS or eye, a single HAB in the CNS or retina plus a visceral manifestation (multiple renal, pancreatic or hepatic cysts, pheochromocytoma and RCC) and positive family history plus any one of the above manifestations.

      CasePresentingHPOs: HP:0010797; HP:0005562 (Hemangioblastoma, Multiple renal cysts)

      CaseHPOFreeText: Multiple or bilateral CNS hemangioblastoma and renal cysts. Diagnosed with VHL Type 1. Phenotypes revised from previous reports (see “PreviouslyPublished” section below for PMID).

      CaseNotHPOs: HP:0002666; HP:0009711; HP:0005584 (Pheochromocytoma, Retinal capillary hemangioma, Renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 19270817 and/or 19949673

      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:DeNovoAssertion Ethnicity:Korean DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:multiplerenalcysts Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:208 ProteinPosition:70 AminoAcidChange:GLUtoLYS ClinVarID:43598 ClinVarID:Yes MutationType:missense_variant;transition CivicName:E70K(c.208G>A) NonFamilial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/25078357/
  83. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification
    1
    1. ClingenBaseline 07 Nov 2026
      (a) Southern blot analysis. Genomic DNA (7 μg) was subjected to an Eco RI and Ase I double digest and hybridized with the 32P labeled VHL cDNA probe g7. The upper band corresponds to the wild-type VHL gene, while the lower band represents a VHL pseudogene (Ψ), located on chromosome 1 20. Typically, samples with a rearrangement in the VHL gene exhibit a less intense wild-type VHL band and an abnormal migrating band Lanes 2 and 9 both represent members from family 35. Patient 12 (N) is a carrier of a VHL missense mutation and can be regarded as a normal control in this analysis. (b) Multiplex ligation-dependent probe amplification (MLPA). Peak signals on the electropherogram correspond to eight different probes recognizing exon 1 (four probes), exon 2 (two probes) and exon 3 (two probes) of the VHL gene, while all other peaks represent 21 control probes for other chromosomal loci, including the FANCD2 (3 probes) and IRAK2 (one probe) genes which, similar to VHL, are located on chromosome 3p. In MLPA, a 40–50% reduction of probe signal intensity typically indicates heterozygous deletion of the corresponding genomic sequence. Deleted VHL exons are indicated by a ‘Δ’ sign followed by the number of the exon involved. Probands 36 and 35 each show a partial VHL gene deletion. Note that in proband 42 the deletion encompasses not only the entire VHL gene, but also the FANCD2 and IRAK2 loci (indicated by ‘Δc’). Proband U168 carrying a deletion of VHL exon 2 was used as a control to validate the MLPA and is not described further in this paper. In all of our patients tested, MLPA results corresponded perfectly with data from Southern blotting, with respect to the VHL exons deleted.
      ExperimentalAssay ClinVarID:928821 CivicName:EXON2-3DELETION CivicName:Exon1-2Deletion CivicName:Exon1Deletion inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/full/10.1111/j.1399-0004.2007.00827.x
  84. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genotype–Phenotype Correlations of Pheochromocytoma in Two Large von Hippel–Lindau (VHL) Type 2A Kindreds With Different Missense Mutations
    1
    1. ClingenBaseline 07 Nov 2026

      PatientID: V-6

      KindredID: 2

      Case: F, Age Unknown, German

      DiseaseAssertion: VHL (Asymptomatic)

      FamilyInfo: Family 2 is comprised of 131 individuals over six generations including 65 members (50% of those at risk) with VHL type 2A (72% clinically affected, 12% obligate carriers, and 15% positive genetic analysis alone) and nearly equal gender distribution for affected status (54% male). An additional six members (II-3, II-4, II -5, III-1, III-2, and III-3) are suspected to have VHL without confirmation. Of note, the nuclear family (branch IV-13) contains 13 siblings, of whom 12 have been diagnosed with pheo. The presenting tumor types in Family 2 were pheo (70%), HB (17%), and RA (13%). No Family 2 member had RCC as the initial manifestation. Distribution of HB and RA are not described except for patient IV-8.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0005584; HP:0002666 (Renal cell carcinoma, Pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 7759077

      SupplementalData: N/A

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 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

      InheritancePattern:AutosomalDominant Ethnicity:German DiseaseEntity:VHL DiseaseEntity:Asymptomatic Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:292 ProteinPosition:98 AminoAcidChange:TYRtoHIS ClinVarID:2223 ClinVarID:Yes MutationType:missense_variant;transition CivicName:Y98H(c.292T>C) FamilyPedigree Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC3085839/
  85. academic.oup.com academic.oup.com
    Hemangioblastomas of Central Nervous System: Molecular Genetic Analysis and Clinical Management
    1
    1. ClingenBaseline 07 Nov 2026
      High-molecular-weight deoxyribonucleic acid (DNA) of the probands was isolated from peripheral blood according to standard procedures. Exons 1, 2, and 3 of the VHL gene and their immediately flanking sequences were amplified by use of polymerase chain reaction (PCR). Appropriate pairs of oligonucleotides were designed in the intronic regions flanking the three exons of the VHL gene. The flanking sequences included 75 nucleotides upstream of the start codon (the first nucleotide of the coding region is 214) and 45 nucleotides downstream of the stop codon. Amplicons were denatured at 94°C and renatured at 25°C for heteroduplex analysis. Denaturing acetonitrile gradient profiles and melting temperatures were established by the Wavemaker 3.0 software prediction. Equal amounts (50 ng) of PCR product were mixed with reference human wild-type genomic DNA and, after denaturation-renaturation, were screened for heteroduplexes by denaturing high-performance liquid chromatography (dHPLC). For amplicons exhibiting abnormal dHPLC profiles, new PCR reactions were performed from 20 ng of genomic DNA, and sequence changes were evaluated by PCR product purification and direct sequencing (Big Dye; Applied Biosystems, Foster City, CA). The positive mutation results were repeated for confirmation.

      ArticleReferenceSequence: Not specified – Assumption: variants assumed to have been documented by the author under reference sequence NM_000551.3

      GenotypingMethod: Exons 1, 2, and 3 of the VHL gene and their immediately flanking sequences were amplified by use of polymerase chain reaction (PCR). Amplicons were denatured at 94°C and renatured at 25°C for heteroduplex analysis. Denaturing acetonitrile gradient profiles and melting temperatures were established by the Wavemaker 3.0 software prediction. Equal amounts (50 ng) of PCR product were mixed with reference human wild-type genomic DNA and after denaturation-renaturation, were screened for heteroduplexes by dHPLC

      SamplingMethod: peripheral blood

      inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    academic.oup.com/neurosurgery/article-abstract/56/6/1215/2744028
  86. www.nejm.org www.nejm.org
    Germ-Line Mutations in Nonsyndromic Pheochromocytoma | NEJM
    1
    1. ClingenBaseline 07 Nov 2026

      Peripheral blood from unrelated patients with pheochromocytoma was tested for mutations of proto-oncogene RET, tumor suppressor gene VHL, succinate dehydrogenase subunit D (SDHD) gene, and the succinate dehydrogenase subunit B (SDHB) gene. Of 271 patients with nonsydromic pheochromocytoma and no family history of the disease, 30 mutations were found in VHL. Multiple pheochromocytomas were statistically more frequent among patients with mutations than among patients without mutations (21 of 66 vs. 5 of 205, P<0.001). The mutation F136C (c.407T>G) was detected in the patient, referred to in the paper by c.620T>G due to a difference in transcript sequence. This missense mutation was found in the VHL gene and one patient with pheochromocytoma.

      ClinVarID:496065 EvidenceStatement inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    nejm.org/doi/10.1056/NEJMoa020152
  87. journals-scholarsportal-info.myaccess.library.utoronto.ca journals-scholarsportal-info.myaccess.library.utoronto.ca
    Genotype–phenotype analysis of von Hippel–Lindau syndrome in fifteen Indian families
    1
    1. ClingenBaseline 07 Nov 2026
      S 23 27 M ? ? ? - - - - VHL FLD a – BRK1, FANCD2

      PatientID: 23

      KindredID: KS

      Case: M, 27Y0M, Indian

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797; HP:0001737 (Hemangioblastoma, Pancreatic cysts)

      CaseHPOFreeText: CNS hemangioblastoma and multi-cystic pancreatic lesions.

      CaseNotHPOs: HP:0030393; HP:0009711; HP:0002666; HP:0005584 (Endolymphatic sac tumor, Retinal capillary hemangioma, Pheochromocytoma, Renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: Complete Deletion

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: This variant is noted as a full-length deletion involving genes BRK1 and FANCD2.

      MutationType: deletion

      CivicName: Deletion

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Indian DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticcysts Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:N/A ProteinPosition:N/A AminoAcidChange:N/A ClinVarID:N/A MutationType:deletion UnregisteredVariant CivicName:Deletion Familial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    journals-scholarsportal-info.myaccess.library.utoronto.ca/pdf/13899600/v14i0004/585_gaovhsifif.xml
  88. endo.confex.com endo.confex.com
    Untitled document
    1
    1. ClingenBaseline 07 Nov 2026
      Further family evaluation revealed clinical and biochemical evidence of (bilateral) pheochromocytoma in two siblings 19 and age 23.

      PatientID: N/A (sibling 1)

      KindredID: 1

      Case: Sex Unknown, 23Y0M, Ethnicity Unknown

      DiseaseAssertion: pheochromocytoma

      FamilyInfo: Her father had bilateral pheochromocytoma at the age of 13 and her grandfather had died of an unknown renal disease at the age of 50. They were both however not tested for any variants. There were no reports of hereditary cutaneous or uterine leiomyomas, renal cell cancer, neuroendocrine tumors or hemangioblastomas of the CNS/retina. Family evaluation revealed clinical and biochemical evidence of (bilateral) pheochromocytoma in two siblings 17 and age 19. These members also had the VHL mutation, while 2 unaffected family members were negative.

      CasePresentingHPOs: HP:0002666 (pheochromocytoma)

      CaseHPOFreeText: clinical and biochemical evidence showed bilateral pheochromocytoma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: FH/RET/MAX/NF1/SDHB/SDHC/SDHD/TMEM127

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G114G (c.342T>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA432421783 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.342T%3EC

      gnomAD: N/A

      VariantEvidence: The FH variant is reported in 9/116704 alleles in the ExAC database. The VHL variant was no reported, however, an T>A transition at the same nucleotide position has been reported once in 1/121408 alleles (ExAC). Researchers suspect synonymous mutation has effects on transcript splicing (2 nucleotides into exon 2).

      MutationType: synonymous_variant

      CivicName: G114G (c.342T>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:pheochromocytoma AminoAcidChange:GLYtoGLY ProteinPosition:114 CivicName:G114G(c.342T>C) cDNAposition:342 MutationType:synonymous_variant CAID:CA432421783 ClinVarID:N/A Familial PreviousTesting:RET/MAX/NF1/SDHB/SDHC/SDHD/TMEM127 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    endo.confex.com/endo/2016endo/webprogram/Paper24918.html
  89. www.nature.com www.nature.com
    SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice
    1
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    nature.com/articles/s41598-019-46124-9
  90. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Clinical and genetic characterization of pheochromocytoma in von Hippel-Lindau families: comparison with sporadic pheochromocytoma gives insight into natural history of pheochromocytoma
    1
    1. ClingenBaseline 07 Nov 2026

      GroupID: 4578

      DiseaseAssertion: VHL

      GroupSize: 8

      GroupNumberMales: N/A

      GroupNumberFemales: N/A

      GroupEthnicity: N/A

      GroupAgeRange: N/A

      GroupInfo: This group is a family of eight people with the same mutation.

      GroupPresentingHPOs: HP:0002666; HP:0005584; HP:0010797; HP:0009711 (Pheochromocytoma, Renal cell carcinoma, Hemangioblastoma, Retinal capillary hemangioma)

      GroupHPOFreeText: 4/8 family members had a pheochromocytoma, 7/8 had renal cell carcinoma, 5/8 had hemangioblastoma of the CNS, and 3/8 had retinal angioma. 2/8 family members were described to have cysts but the type or location was not specified.

      GroupNotHPOs: HP:0030405 (pancreatic endocrine tumour)

      GroupNotHPOFreeText: N/A

      GroupPreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.N78S (c.233A>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: c.446A>G

      ClinVarID: 93326, https://www.ncbi.nlm.nih.gov/clinvar/variation/93326/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Variant reported as 446, A to G (Asp to Ser), assumed to be reported in legacy nomenclature (AF010238.1) and mapped to c.233A>G, p.Asn78Ser (NM_000551.3). Error on author's part regarding protein change.

      MutationType: missense_variant; transition

      CivicName: N78S (c.233A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:renalcellcarcinoma Mutation:Germline AssumedRefSeq:AF010238.1 cDNAposition:233 ProteinPosition:78 AminoAcidChange:ASNtoSER ClinVarID:93326 ClinVarID:Yes MutationType:missense_variant;transition CivicName:N78S(c.233A>G) Familial FamilyCohort inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/10458336/
  91. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Germline mutations in the von Hippel–Lindau disease tumor suppressor gene: Correlations with phenotype
    1
    1. ClingenBaseline 07 Nov 2026

      In a study of 114 unrelated VHL families, 85 germline mutations were found. VHL mutations were detected in affected family members, but not in unaffected family members or 96 normal individuals. This nonsense mutation was found in a VHL type 1 patient and familiy of 4 individuals (family IDs 3760 and 3759), using PCR and SSCP sequencing. The mutation of c.336C>A was referred to in the paper by c.549C>A due to a difference in transcript sequence. In family 3759, 3 of 4 individuals were identified with retinal angiomas, 1 with CNS hemangioblastoma, and one with renal cell carcinoma. For individual 3760, they had retinal and CNS hemangiomas. ACMG codes as follows: Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PP1). Patient's phenotype is highly specific for a disease with a single genetic etiology (PP4).

      CAID:CA16602183 EvidenceStatement inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/10.1002/humu.1380050109
  92. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Frequent Mutations of VHL Gene and the Clinical Phenotypes in the Largest Chinese Cohort With Von Hippel–Lindau Disease
    1
    1. ClingenBaseline 07 Nov 2026
      337

      540 patients from 187 unrelated Chinese VHL families at the Peking University First Hospital were all screened for VHL clinical features and germline mutations. Of these, clinical characteristics were observed in 258 patients from 80 unrelated Chinese families. These were reported in this study, grouped by the 21 mutations found. PCR and MLPA on peripheral blood detected the VHL mutations. Possessing the p.R113* (c.337C>T) mutation, 6 members total from 2 families were described, and phenotypic information was given for this group. With ages ranging from 17-66Y, hemangioblastomas were observed in 3/6 members, retinal capillary hemangioma in 3, renal cell carcinoma in 3, pancreatic cysts in 2, and in a papillary cystadenoma of the epididymis genital system tumor (epididymis or broad ligament) 1 member. See more information as this cohort has been previously published in PMID 29330336

      EvidenceStatement ClinVarID:220414 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/31620170/
  93. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Coexistence of VHL Disease and CPT2 Deficiency: A Case Report
    1
    1. ClingenBaseline 07 Nov 2026
      mother

      PatientID: IV-8

      KindredID: 1

      Case: F, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: The proband (V-5), his mother (IV-8), maternal grandmother (III-6), maternal aunts (IV-10, IV-12), cousin (V-9) and brother (V-6) were found to harbour the VHL mutation p.P86A (c.256 C>G). All were symptomatic of VHL except for his cousin.

      CasePresentingHPOs: HP:0010797; HP:0000107; HP:0030405; HP:0009711 (Hemangioblastoma, Renal cyst, Pancreatic endocrine tumor, Retinal capillary hemangioma)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 7728151(family 4416); 20375333

      SupplementalData: Information obtained from Figure 1.

      Variant: p.P86A (c.256 C>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 93327, https://www.ncbi.nlm.nih.gov/clinvar/variation/93327/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: P86A (c.256C>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma DiseaseEntity:renalcyst DiseaseEntity:pancreaticendocrinetumor Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:256 ProteinPosition:86 AminoAcidChange:PROtoALA ClinVarID:93327 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:P86A(c.256C>G) Familial FamilyPedigree SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5080814/
  94. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Germline VHL gene mutations in three Serbian families with von Hippel-Lindau disease
    1
    1. ClingenBaseline 07 Nov 2026
      Affected members of the third family with a VHL type 1 disease carried a c.475T>C/p.Trp88Arg exchange.

      PatientID: CII2

      KindredID: C

      Case: M, 63Y0M, Serbian

      DiseaseAssertion: VHL

      FamilyInfo: Families were selected based on their clinical data and family history. Patient’s son (CIII1) retinal capillary hemangioma, CNS hemangioblastoma and renal cell carcinoma, but was not genetically tested. The patient’s brother also had retinal capillary hemangioma, CNS hemangioblastoma and renal cell carcinoma, but was not genetically tested. Patient’s grandson (CIV2) was diagnosed with retinal hemangioblastoma at 12Y0M. Then, multiple pancreatic and kidney cysts were detected at 29Y0M and left kidney cancer was found at age 35Y0M. He possessed the same mutation as the patient. The grandson’s children aged 12Y0M (CV2) and 15Y0M (CV1) are carriers of the same genetic mutation, but are both currently asymptomatic. See pedigree in figure 1.

      CasePresentingHPOs: HP:0009711; HP:0010797; HP:0005584 (retinal capillary hemangioma; hemangioblastoma; renal cell carcinoma)

      CaseHPOFreeText: The patient had the first symptoms of retinal hemangioblastoma at 60Y0M and deceased due to renal cell carcinoma in both kidneys at 63Y0M.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      LegacyVariant: p.W88R (c.475T>A)

      CaseProblemVariantFreeText: N/A

      ClinVarID: 456577, https://www.ncbi.nlm.nih.gov/clinvar/variation/456577/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense variant; transversion

      CivicName: W88R (c.262T>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline MutationType:missense_variant;transversion DiseaseEntity:VHL DiseaseEntity:renalcellcarcinoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:hemangioblastoma AgeOfPresentation:retinalcapillaryhemangioma:60 CivicName:W88R(c.262T>A) cDNAPosition:262 ProteinPosition:88 AminoAcidChange:TRPtoARG ClinVarID:Yes ClinVarID:456577 FamilyPedigree Familial AssumedRefSeq:AF010238.1 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/17688370/
  95. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Late recurrence after surgical resection of a pancreatic tumor in von Hippel-Lindau disease
    1
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    pubmed.ncbi.nlm.nih.gov/19734639/
  96. nyaspubs.onlinelibrary.wiley.com nyaspubs.onlinelibrary.wiley.com
    Genetic mutation screening in an italian cohort of nonsyndromic pheochromocytoma/paraganglioma patients
    1
    1. ClingenBaseline 07 Nov 2026
      Read the full text

      PatientID: 8

      KindredID: 8

      Case: Sex Unknown, 31Y0M, Italian

      DiseaseAssertion: pheochromocytoma

      FamilyInfo: Present - potential pathogenic relevance due to a family history, although no further information present

      CasePresentingHPOs: HP:0006748 (Adrenal pheochromocytoma)

      CaseHPOFreeText: adrenal bilateral pheochromocytoma with an age of diagnosis of 31Y

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G93C (c.277G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223175 https://www.ncbi.nlm.nih.gov/clinvar/variation/223175/

      CAID: N/A

      gnomAD: 0.000004476 https://gnomad.broadinstitute.org/variant/3-10183808-G-T

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: G93C (c.277G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Italian DiseaseEntity:adrenalpheochromocytoma AgeOfPresentation:adrenalpheochromocytoma:31 Familial ProteinPosition:93 cDNAposition:277 CivicName:G93C(c.277G>T) MutationType:missense_variant;transversion AminoAcidChange:GLYtoCYS Mutation:Germline AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    nyaspubs.onlinelibrary.wiley.com/doi/abs/10.1196/annals.1353.016
  97. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Identification of intragenic mutations in the Von Hippel — Lindau disease tumour suppressor gene andcorrelation with disease phenotype
    1
    1. ClingenBaseline 07 Nov 2026

      One hundred and sixteen unrelated VHL disease patients have been investigated by molecular genetic analysis. Twenty-two of these were previously shown to have germline deletions on Southern analysis, and in the present study the remaining 94 patients were screened for intragenic mutations via SSCP and heteroduplex analysis of 855 bp of the VHL coding sequence and 800 bp of the 3' UTR. An intragenic mutation was identified in 55 (59%) out of 94 patients without germline deletions on Southern analysis. In all patients with multiple affected family members the missense mutation segregated with the disease. Large deletions or intragenic mutations predicted to cause a truncated protein were found in 36 of 53 families without pheochromocytoma (VHL type 1) and 2 of 12 families with pheochromocytoma (VHL type 2). This study also investigated the frequency of different mutation classes between kindreds with and without pheochromocytoma. The p.N78H(c.232A>C) missense mutation (noted as p.N149H (c.445A>C) in the paper due to a difference in reference transcript used) was found in at least one patient in kindred 34. Pheochromocytoma was not observed in any members of this kindred (implying the affected patient(s) had VHL disease type 1). No other familial phenotypic information could be inferred from the paper.

      ClinVarID:625225 EvidenceStatement ClinVarID:Yes inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/7987306/
  98. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Two single nucleotide polymorphisms in the von Hippel-Lindau tumor suppressor gene in Taiwanese with renal cell carcinoma
    1
    1. ClingenBaseline 07 Nov 2026
      166FemaleIIIYesAGLOH (G)AGLOH (G)

      PatientID: 1

      KindredID: 1

      Case: F, 66Y0M, Taiwanese (East-Asian)

      DiseaseAssertion: renal cell carcinoma

      FamilyInfo: N/A

      CohortInfo: 8 of 19 patients presenting with clear cell renal cell carcinoma were found to be heterozygous for the germline variant rs1642742 in VHL (c.*294G>A). All but one of these patients (7/8) also presented with the germline variant rs779805 (c.-195G>A) in VHL.

      CasePresentingHPOs: HP:0006770 (clear cell renal cell carcinoma)

      CaseHPOFreeText: She had stage III clear cell renal cell carcinoma

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 21982469

      SupplementalData: Yes - Additional file 1: Figure S1

      Variant: c.*294G>A

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 342407 https://www.ncbi.nlm.nih.gov/clinvar/variation/342407/

      CAID: N/A

      gnomAD: 0.5911 https://gnomad.broadinstitute.org/variant/3-10191943-G-A

      VariantEvidence: Heterozygous for both, she also presented with the germline variant c.-195G>A in VHL. LOH (G) of both mutations was found in the tumor tissue as well

      MutationType: 3_prime_UTR_variant

      CivicName: c.-195G>A AND c.*294G>A

      MultipleGeneVariants: Germline, VHL, c.-195G>A

      InheritancePattern:AutosomalDominant Ethnicity:Taiwanese Ethnicity:EastAsian DiseaseEntity:clearcellrenalcellcarcinoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:294 CivicName:c.*294G>A MutationType:3_prime_UTR_variant ClinVarID:342407 ClinVarID:Yes MultipleVHLVariants SupplementalData NoFamilyInfo CivicName:c.-195G>AANDc.*294G>A inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC4168206/
  99. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Genotype–phenotype correlations in von Hippel-Lindau disease
    1
    1. ClingenBaseline 07 Nov 2026

      GroupID: 64

      Case: 49Y0M, Sex Unknown, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: 1 of the 573 patients discussed in this paper were found to have this variant. This mutation (c.340G>T) was found in 1 VHL family with a single patient.

      CasePresentingHPOs: HP:0006880 (cerebellar hemangioblastoma)

      CaseHPOFreeText: patient had cerebellar hemangioblastoma diagnosed at 49Y

      CaseNotHPOs: HP:0005584; HP:0009711; HP:0002666 (renal cell carcinoma; retinal capillary hemangioma; pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table S1.

      Variant: p.G114C (c.340G>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA351751376 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.340G%3ET

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: G114C (c.340G>T)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:cerebellarhemangioblastoma AgeOfPresentation:cerebellarhemangioblastoma:49 cDNAposition:340 CAID:CA351751376 ClinVarID:N/A ProteinPosition:114 AminoAcidChange:GLYtoCYS MutationType:missense_variant;transversion CivicName:G114C(c.340G>T) NoFamilyInfo SupplementalData RefSeq:NM_000551.2 InheritancePattern:AutosomalDominant ExperimentalAssay Mutation:Germline inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/abs/10.1002/humu.20385