50 Matching Annotations
  1. Last 7 days
    1. PatientID: 113

      KindredID: 41

      Case: M, 36Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: N/A

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

      CaseHPOFreeText: The proband presented with a CNS hemangioblastoma at 26, and at age 36 presented with renal cell carcinoma and multiple pancreatic cysts/tumors.

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: This cohort was also published in an earlier paper by Wang et al., 2014 (PMID 24581539) as well as 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.H115Tfs*44 (c.343del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA432421784, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.343delC

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: H115FS (c.343delC)

      MultipleGeneVariants: N/A

    2. PatientID: 168

      KindredID: 65

      Case: F, 36Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0010797; HP:0001737; HP:0001732; (Hemangioblastoma, Pancreatic cysts, Abnormality of the pancreas)

      CaseHPOFreeText: The proband presented with multiple pancreatic cysts and tumors at age 34. At age 36, she presented with a CNS hemangioblastoma.

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

      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.R161* (c.481C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2217, https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

    3. PatientID: 189

      KindredID: 72

      Case: F, 39Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: The proband, patient 72, has multiple family members with the same mutation. Her father (patient 73) had a CNS hemangioblastoma at 65, renal cell carcinioma at 54, and multiple pancreatic cysts/tumors at 67. Her sister 2 (second sister) had multiple pancreatic cysts/tumors at 36, and a CNS hemangioblastoma at 39. Her sister 3 had multiple pancreatic cysts/tumors at 32, and a retinal angioma at 34. The proband's sister 1 had a CNS hemangioblastoma at 22, but passed away before they could be diagnosed/ confirmed with the mutation.

      CasePresentingHPOs: HP:0010797; HP:0001737; HP:0001732 (Hemangioblastoma, Pancreatic cysts, Abnormality of the pancreas)

      CaseHPOFreeText: The patient presented with a CNS hemangioblastoma at 39, and multiple pancreatic cysts/tumors at 36.

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: This patient 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.R167W (c.499C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: 0.000007954; 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

    1. 263 50 c.36G>C p.Glu12Asp x n/d n/a -

      PatientID: 263

      KindredID: 263

      Case: Sex Unknown, 50Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Transmission of the variant could not be determined (n/d) since both parents and family history were not available.

      CasePresentingHPOs: HP:0010797 (Hemangioblastoma)

      CaseHPOFreeText: CNS hemangioblastoma.

      CaseNotHPOs: HP:0002666; HP:0006770; HP:0000107; HP:0001732; HP:0009711 (Pheochromocytoma, Clear cell renal cell carcinoma, Renal cyst, Abnormality of the pancreas, Retinal capillary hemangioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Table S1, S2 and S3

      Variant: p.E12D (c.36G>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 419711, https://www.ncbi.nlm.nih.gov/clinvar/variation/419711/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: E12D (c.36G>C)

      MultipleGeneVariants: N/A

    1. PatientID: N/A

      KindredID: 6

      Case: F, 37Y0M, Chinese

      DiseaseAssertion: abnormality of the pancreas

      FamilyInfo: Patient had family history of VHL disease. Patient’s sibling presented with hemangioblastoma, renal cell carcinoma, abnormality of the pancreas, and epididymal cyst at age 37. Patient's father presented with renal cell carcinoma at age 54, and patient's sister presented with retinal capillary hemangioma at age 34. All three family members possessed the same mutation.

      CohortInfo: 16 Chinese patients clinically diagnosed with VHL disease.

      CasePresentingHPOs: HP:0001732 (abnormality of the pancreas)

      CaseHPOFreeText: The patient presented with multiple pancreatic cysts or tumors at age 36.

      CaseNotHPOs: HP:0005584, HP:0009711, HP:0002666, HP:0030393, HP:0010797 (renal cell carcinoma, retinal capillary hemangioma, pheochromocytoma, endolymphatic sac tumor, hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

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

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

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

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: R167W (c.499C>T)

      MultipleGeneVariants: N/A

    1. PatientID: None

      KindredID: VHL26

      Case: F, 36Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: A total of 190 patients recruited by the COMETE network over 15 years were included in the study.

      CasePresentingHPOs: HP:0002668 (Paraganglioma)

      CaseHPOFreeText: The patient had one malignant abdominal paraganglioma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/SDHB/SDHC/SDHD

      PreviouslyPublished: N/A

      SupplementalData: Table 1 of Supplementary

      Variant: Exon 3 Deletion (c.464-?_642+?del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: The patient had no LOH found in the BAC array CGH data. Somatic VHL variant c.302T>A was found in the tumor tissue.

      MutationType: exon_loss_variant

      CivicName: Exon 3 Deletion

      MultipleGeneVariants: N/A

    1. PatientID: 22 (First cousin once removed)

      KindredID: 17

      Case: F, 43Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: 6 members of this family tested positive for the c.496_506del germline variant of the VHL gene. ID 4 presented with CNS hemangioblastoma, retinal angioma and renal and pancreatic abnormalities. ID 1, 25 and 8 were asymptomatic. ID 5 presented with retinal angioma. 2 members were assumed to have the variant but were not genetically confirmed (ID 20 and ID 11). ID 11 and 20 presented with CNS hemangioblastoma.

      CasePresentingHPOs: HP:0010797 (Hemangioblastoma)

      CaseHPOFreeText: This patient presented with CNS hemangioblastoma (36Y).

      CaseNotHPOs: HP:0005584; HP:0002666; HP:0000077; HP:0001732; HP:0009711 (Renal cell carcinoma, Pheochromocytoma, Abnormality of the kidney, Abnormality of the pancreas, Retinal capillary hemangioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Supplementary Table 1.

      Variant: p.V166Sfs*4 (c.496_506del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223229, https://www.ncbi.nlm.nih.gov/clinvar/variation/223229/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: It is unclear from the publication if this variant is reported according to legacy (AF010238.1) or NM_000551.3 reference sequence. Clinical notes from the case confirm the reference sequence to be NM_000551.3.

      MutationType: deletion; minus_2_frameshift_variant

      CivicName: V166SFS*4 (c.496_506del)

      MultipleGeneVariants: N/A

  2. Nov 2026
    1. Family 6+2c.349T > G, p.Trp117GlyYes136444440–44

      PatientID: None

      KindredID: 6

      Case: Sex Unknown, 44Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: Positive. Patient's son who was confirmed to have this mutation presented with hemangioblastoma at age 12. The patient's mother, aunt, grandmother, brother 1 and 2, and sister 3 all passed before they could undergo genetic testing but had a variety of VHL presentations. The patient's first sister and third nephew were confirmed to have this genetic mutation. The first sister presented with abnormality of the pancreas at age 53. The nephew had hemangioblastoma and retinal angioma at age 13. Additional familial phenotypes can be found in Table 1.

      CasePresentingHPOs: HP:0010797, HP:0005584, HP:0001732, HP:0009711 (hemangioblastoma, renal cell carcinoma, abnormality of the pancreas, retinal capillary hemangioma)

      CaseHPOFreeText: The patient presented with hemangioblastoma at age 36. At age 40 he/she presented with pancreatic cysts or tumours. At age 44 the patient had retinal angioma, renal cell carcinoma, and epididymal or ovarian cystadenoma.

      CaseNotHPOs: HP:0002666 (pheochromocytoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 29330336

      Variant: p.W117G (c.349T>G)

      LegacyVariant:N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 862346 https://www.ncbi.nlm.nih.gov/clinvar/variation/862346/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName:W117G (c.349T>G)

      MultipleGeneVariants: N/A

    1. #9Multiple retinal HMB (36)32c.340+617C>G‡NANANANANANAPathogenic

      PatientID: 9

      KindredID: 9

      Case: Sex Unknown, 68Y0M, Ethnicity Unknown

      DiseaseAssertion: retinal capillary hemangioma

      FamilyInfo: The patient's mother also carried the variant and had her first screening at the age of 70 years old, which diagnosed one pancreatic cyst and multiple vertebral body haemangiomas.

      CasePresentingHPOs: HP:0009711 (retinal capillary hemangioma)

      CaseHPOFreeText: A retinal HB diagnosed first at 36Y was found, with follow up of a 32 year duration.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Yes

      Variant: c.340+617C>G

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA915941841 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.340%2B617C>G

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant; intron_variant

      CivicName: Splice Site (c.340+617C>G)

      MultipleGeneVariants: N/A

    1. PatientID: 220

      KindredID: 82

      Case: M, 36Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: The proband's mother and sister both presented with renal cell carcinoma at ages 49 and 27, respectively. Their mother also had a CNS hemangioblastoma at 45, and their sister had a retinal angioma at 30. No genotyping information was available for either family member.

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

      CaseHPOFreeText: The proband presented with renal cell carcinoma at age 22, and a pheochromocytoma at age 36.

      CaseNotHPOs: HP:0009711; HP:0001737; HP:0001732; HP:0010797 (Retinal capillary hemangioma, Pancreatic cysts, Abnormality of the pancreas, 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.R167Q (c.500G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2216, https://www.ncbi.nlm.nih.gov/clinvar/variation/2216/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: R167Q (c.500G>A)

      MultipleGeneVariants: N/A

    1. A female patient observed reduced vision in the right eye at age 17 years. She was diagnosed with retinal angiomatosis of the right eye. Laser therapy and brachytherapy were performed. Vision of the right eye remained reduced to 15%. At age 24, a hemangioblastoma of the cervical spinal cord was resected. At age 27, she underwent craniotomy for a cerebellar hemangioblastoma. Genetic testing revealed the mutation VHL c.394 C > T, which predict a truncated VHL protein (Q132X). In 2007, a 20 mm diameter left renal tumor was detected but not resected owing to its small size, as internationally recommended [1].In 2009 at age 38, abdominal MRI and CT angiography showed, in the axial view, a solid, 3.6 × 3.3 cm tumor of the pancreatic tail (Fig. 2a). Early arterial phase imaging after contrast injection revealed that the tumor had significant hyperperfusion. In addition, multiple pancreatic cysts were noted.

      PatientID: 2

      KindredID: 2

      Case: F, 38Y0M, German

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo:All patients from the German registry for VHL with PNETs >3 cm diameter with tumours located in the pancreatic body or tail region.

      CasePresentingHPOs: HP:0009711, HP:0009713, HP:0006880, HP:0009726, HP:0030405, HP:0001737 (retinal capillary hemangioma, spinal hemangioblastoma, cerebellar hemangioblastoma, renal neoplasm, pancreatic endocrine tumour, pancreatic cysts)

      CaseHPOFreeText: Retinal angiomatosis at age 17, hemangioblastoma of the cervical spinal cord at age 24, cerebellar hemangioblastoma at age 27, left renal tumor at age 36. Pancreatic endocrine tumour and pancreatic cysts at age 38. She had a laparoscopy which found an 8-cm retrogastric cyst, 3.2-cm benign PNET, and a serous cystadenoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Q132* (c.394C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 288749 https://www.ncbi.nlm.nih.gov/clinvar/variation/288749/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: Q132* (c.394C>T)

      MultipleGeneVariants: N/A

    1. 5-generation Chinese family with VHL

      PatientID: IV-23

      KindredID: 1

      Case: M, 36Y0M, Chinese

      DiseaseAssertion: Renal cyst

      FamilyInfo: Eight affected individuals in the patient’s family were retrospectively identified by reviewing medical records and from the recall of relatives. Three had passed away before 40 years of age because of central nervous system hemangioblastoma. Among the 10 living family members that carried the same NM_000551.3:c.326_339dupTCCACAGCTACCGA the patient carried, 3 had renal cysts and 1 had developed renal cell carcinoma, 2 had central nervous system hemangioblastoma, 1 had retinal hemangioblastomas, 1 was diagnosed with glioblastoma, and 5 were asymptomatic.

      CasePresentingHPOs: HP:0000107 (Renal cyst)

      CaseHPOFreeText: N/A

      CaseNotHPOs: HP:0009711; HP:0010797; HP:0005584 (Retinal hemangioblastoma, hemangioblastoma, renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Gly114Serfs*50(c.326_339dupTCCACAGCTACCGA)

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA2573051018 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2573051018

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: duplication

      CivicName: G114fs (c.326_339dupTCCACAGCTACCGA)

      MultipleGeneVariants: N/A

  3. Oct 2026
    1. PatientID: 24 (Aunt)

      KindredID: 18

      Case: F, 80Y0M, Ethnicity Unknown

      DiseaseAssertion: Assumed VHL

      FamilyInfo: 11 members of this family tested positive for the c.712C>T/c.499C>T germline variant of the VHL gene. 14 members of this family were assumed to carry this variant due to family history/personal medical history. Members of this family range from asymptomatic to multi-organ involvement (pheochromocytoma, pancreatic and renal cysts/tumors and hemangioblastomas). The family was previously reported in PMID 3942913.

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

      CaseHPOFreeText: This patient presented with CNS hemangioblastoma (36Y), pheochromocytoma (36Y) and retinal angioma (22Y).

      CaseNotHPOs: HP:0005584; HP:0000077; HP:0001732 (Renal cell carcinoma, Abnormality of the kidney, Abnormality of the pancreas)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: 3942913 (some members of this family are previously reported (phenotypes only) but unable to match patients across papers with confidence)

      SupplementalData: Supplementary Table 1.

      Variant: N/A

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Authors state that the c.712C>T germline familial variant of the VHL gene in this patient is “inferred from the family”. No genetic testing was done on this patient to confirm this. Being that this familial variant is out of bound with respect to the NM_000551.3 reference sequence, it was concluded that this variant is noted in the Latif et al. (1993) reference and was translated to c.499C>T (NM_000551.3).

      MutationType: N/A

      CivicName: N/A

      MultipleGeneVariants: N/A

    1. PatientID: 142

      KindredID: 52

      Case: F, 36Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: The proband (patient 138) had multiple family members affected with the mutation. Their daughter (pt 139) was asymptomatic at the time of assessment; their son (pt 140) was also asymptomatic at the time of assessment; their mother (pt 141) presented with a CNS hemangioblastoma at 66, renal cell carcinoma at 69, and multiple pancreatic cysts/tumors at 66; their sister 1 (pt 142) presented with a CNS hemangioblastoma at 32, renal cell carcinoma at 36, and multiple pancreatic cysts/tumors at 36; the son of sister 1 was asymptomatic at the time of analysis; the daughter of sister 1 was asymptomatic at the time of analysis; the proband's sister 2 presented at age 39 with CNS hemangioblastoma, renal cell carcinoma, and multiple pancreatic cysts/tumors; and the son of sister 2 was asymptomatic at the time of analysis. All members of this family were genetically confirmed to have this mutation.

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

      CaseHPOFreeText: The proband's sister 1 (patient 142) had a CNS hemangioblastoma at 31, and multiple pancreatic cysts/tumors and renal cell carcinoma at 36.

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: This patient 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: c.464-1G>C

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223220; https://www.ncbi.nlm.nih.gov/clinvar/variation/223220/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: splice_site_variant

      CivicName: Splice Site (c.464-1G>C)

      MultipleGeneVariants: N/A

    2. PatientID: 27

      KindredID: 9

      Case: F, 40Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: N/A

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

      CaseHPOFreeText: The proband, patient 27, presented at age 36 with a CNS hemangioblastoma, and renal cell carcinoma and multiple pancreatic cysts and tumors at 40.

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: This patient was also published in a later paper by Wang et al., 2018 (PMID: 29330336). This mutation was also published in PMID 32179488 in reference to one patient with VHL disease type 1 in this paper with the c.227_229del variant. However, it is unclear whether patient #27, #28, or #30 is specifically published in PMID 32179488.

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

      Variant: p.F76del (c.227_229del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA357012; https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.224_226del

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: inframe_deletion

      CivicName: F76del (c.224_226delTCT)

      MultipleGeneVariants: N/A

    3. PatientID: 271

      KindredID: 105

      Case: F, 42Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0001737; HP:0001732; HP:0010797 (Pancreatic cysts, Abnormality of the pancreas, Hemangioblastoma)

      CaseHPOFreeText: The proband presented at age 48 with renal cell carcinoma, multiple pancreatic cysts/tumors, and pheochromocytoma.

      CaseNotHPOs: HP:0009711; HP:0005584; HP:0002666 (Retinal capillary hemangioma, Renal cell carcinoma, 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 2 Deletion (c.341-?_463+?del)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: exon_loss_variant

      CivicName: Exon 2 Deletion

      MultipleGeneVariants: N/A

    4. PatientID: 194

      KindredID: 74

      Case: F, 36Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: The proband, patient 193, has a mother (patient 194) who was also found to have the same germline mutation. The proband had a CNS hemangioblastoma at age 16.

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: The patient presented with a pheochromocytoma at age 36.

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

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: This patient 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.R167W (c.499C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

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

      CAID: N/A

      gnomAD: 0.000007954; 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

    1. c.481C>T p.Arg161Stop

      PatientID: None (proband 15)

      KindredID: 15

      Case: M, 36Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: Father had died before diagnosis therefore no DNA sample available; He presented with CNS hemangioblastomas at the age of 42.

      CasePresentingHPOs: HP:0010797; HP:0005584; HP:0001737; HP:0009715; HP:0030393 (hemangioblastoma, renal cell carcinoma, pancreatic cysts, papillary cystadenoma of the epididymis, endolymphatic sac tumor)

      CaseHPOFreeText: Patient presented with hemangioblastoma at age 29, renal cell carcinoma at age 29, pancreatic cysts at age 36, endolymphatic sac tumor at age 33, papillary cystadenoma of the epididymis at age 29.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R161* (c.481C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 2217 https://www.ncbi.nlm.nih.gov/clinvar/variation/2217/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_gained

      CivicName: R161* (c.481C>T)

      MultipleGeneVariants: N/A

    1. probands

      PatientID: 12

      KindredID: 12

      Case: Sex Unknown, 42Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: Patient had no family history of VHL disease.

      CohortInfo: 16 Chinese patients clinically diagnosed with VHL disease.

      CasePresentingHPOs: HP:0010797; HP:0005584; HP:0001732 (hemangioblastoma; renal cell carcinoma; abnormality of the pancreas)

      CaseHPOFreeText: The patient presented with a hemangioblastoma at age 36 and then renal cell carcinoma and multiple pancreatic cysts or tumors at age 40.

      CaseNotHPOs: HP:0009711, HP:0002666, HP:0030393, HP:0030424 (retinal capillary hemangioma, pheochromocytoma, endolymphatic sac tumor, epididymal cyst)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.F76del (c.227-229delTCT)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

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

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: minus_1_frameshift_variant

      CivicName: F76del (c.224_226delTCT)

      MultipleGeneVariants: N/A

    1. In Patient 1, who was 40 years old and had a cerebellar hemangioblastoma, the P86L missense heterozygous germline mutation was identified in exon 1. The DNA analysis of close relatives did not show affected subjects. This patient was recommended for VHL disease surveillance protocols (15) (Table 4) and developed a retinal hemangioblastoma 4 years after diagnosis. TABLE 4.von Hippel-Lindau protocol for periodical clinical monitoring (7) Open in new tab

      PatientID: 1

      KindredID: 1

      Case: M, 40Y0M, Italian

      DiseaseAssertion: VHL

      FamilyInfo: None - The DNA analysis of close relatives did not show affected subjects

      CasePresentingHPOs: HP:0006880; HP:0009711 (cerebellar hemangioblastoma; retinal capillary hemangioblastoma)

      CaseHPOFreeText: also had high intercranial pressure; developed a retinal hemangioblastoma 4 years after diagnosis (diagnosis at 32Y0M; rHAB at 36Y0M)

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P86L (c.257C>T)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 182977 https://www.ncbi.nlm.nih.gov/clinvar/variation/182977/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P86L (c.257C>T)

      MultipleGeneVariants: N/A

    1. 87VHLE2c.414A>Gp.P138PPP30946460M363622NoPCC2.3No

      PatientID: 87

      KindredID: 87

      Case: M, 38Y0M, Chinese (East Asian)

      DiseaseAssertion: Pheochromocytoma

      FamilyInfo: No family history.

      CasePresentingHPOs: Pheochromocytoma (HP:0002666)

      CaseHPOFreeText: Pheochromocytoma symptomatic and diagnosed at age 36Y, 2.3cm in size. 2 years later he underwent PPGL genetic testing.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: MAX, NF1, RET, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.P138P (c.414A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223206 https://www.ncbi.nlm.nih.gov/clinvar/variation/223206/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: Described as a pathogenic variant, according to the ACMG guidelines at the time of publication.

      MutationType: synonymous_variant; missense_variant;transition

      CivicName: P138= (c.414A>G)

      MultipleGeneVariants: N/A

    1. Family 3−1c.185insAGCAdelTGCTGCGCTYes135–3636––

      PatientID: None

      KindredID: 3

      Case: Unknown, 36Y0M, Chinese

      DiseaseAssertion:VHL

      FamilyInfo: None.

      CasePresentingHPOs: HP:0010797, HP:0005584, HP:0001732 (hemangioblastoma, renal cell carcinoma, abnormality of the pancreas)

      CaseHPOFreeText:The patient presented with hemangioblastoma at age 35. One year later he was found to have renal cell carcinoma and pancreatic cysts or tumors.

      CaseNotHPOs: HP:0009711, HP:0002666 (retinal capillary hemangioma, pheochromocytoma)

      CaseNotHPOFreeText: No epididymal/ovarian cystadenomas.

      CasePreviousTesting: N/A

      PreviouslyPublished: 29330336

      Variant: p.V62Efs*68 (c.185_193delTGCTGCGCTinsAGCA)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID:N/A

      CAID: CA2499306941 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA2499306941

      gnomAD:N/A

      VariantEvidence: N/A

      MutationType: delins

      CivicName:V62Efs*68 (c.185_193delTGCTGCGCTinsAGCA)

      MultipleGeneVariants: N/A

  4. Apr 2025
  5. Jan 2025
    1. for - Youtube - Buzzfeed video - Blind until 36 & Seeing myself for the first time - This is that story - Olivia Durant - 2022 - constructed perception of reality - SOURCE - Youtube - Buzzfeed video - Blind until 36 & Seeing myself for the first time - This is that story - Olivia Durant - 2022 // - Summary - This is a video about a woman who was almost 100% blind since birth and had her eyesight restored as an adult - It is an example of a case study that can shed light on how aspects of our sensory reality that we take for granted are constructed from years of conditioning in chiildhood //

  6. Nov 2024
    1. 100-mile zone of Russian control over water off the coast of its northwest American territories to protect its shores from Americans smuggling to natives

      Ok... so this is an extra credit question worth 50 points. How much do you know about international waterways and how they are regulated? Why do countries care about this? Explain the current agreement between the USA and Russia. Since 1821, how many times have the two countries had a disagreement related to this?

      Cite your sources!

  7. Oct 2024
  8. Sep 2024
    1. Topic: Defining Distance Education Date: 1980 Course/Subject: Distance Education Studies

      Notes Main Idea The paper analyzes existing definitions of distance education and identifies six essential components that should be included in a comprehensive definition. The analysis covers different educational philosophies and institutional contexts for distance education.

      Key Definitions and Theorists Holmberg's Definition

      Distance education involves the separation of teacher and learner. Requires planned, structured learning materials and institutional support. French Law (Loi 71.556 du 12 juillet 1971)

      Defines distance education as learning where the teacher is not physically present, except for occasional tasks. Moore's Definition

      Highlights separation of teaching and learning behaviors. Emphasizes the use of technical media and the importance of two-way communication. Peters’ Definition

      Describes distance education as an industrialized form of education. Incorporates principles like division of labor, mass production, and mechanization in the teaching process. Six Essential Components of Distance Education Separation of Teacher and Student

      Physical and temporal separation in the teaching and learning process. Role of Educational Organization

      Planning, preparing, and providing learning materials and support. Use of Technical Media

      Communication between teacher and learner facilitated by print, radio, television, or computers. Provision of Two-Way Communication

      Opportunities for dialogue between teacher and learner. Possibility of Occasional Seminars

      Allowing for some face-to-face interaction for didactic or social purposes. Participation in an Industrialized Form of Education

      Incorporates aspects of industrial processes in the delivery of education, such as standardized materials and automated communication. Analysis and Discussion Educational Contexts and Models

      Different definitions cater to various levels and types of education (e.g., correspondence, open learning, external studies). Theoretical frameworks like Peters' focus on the structural separation and mechanization of distance education. Challenges and Misconceptions

      Confusion over terminology, such as correspondence study vs. distance education. Misunderstanding of the relationship between traditional and distance education models. Proposed Solution

      The term 'distance education' is suggested as the most suitable to encompass various forms and philosophies of education that involve separation of teacher and learner. Implications The need for clarity in defining distance education for consistent policy development and theoretical analysis. Importance of recognizing the distinct nature of distance education as an industrialized form of learning. Questions/Cues What are the key differences between Holmberg’s and Peters’ definitions of distance education? How does Keegan's six-component framework help in distinguishing distance education from other forms of non-traditional education? Why is Peters’ view on industrialization important in understanding distance education? Summary The paper provides a detailed analysis of distance education by examining prominent definitions and proposing a comprehensive framework. Keegan emphasizes the industrialized nature of distance education and the necessity for clear terminology to distinguish it from other educational forms.

      Reference Keegan, D. J. (1980). On defining distance education. Distance Education, 1(1), 13-36.

  9. Aug 2024
    1. The study analysedindirect dependencies on ecosystem services and concluded that EUR510 billion, or 36% ofthe EUR 1.4 trillion in investments held by Dutch financial institutions, is highly or very highlydependent on one or more ecosystem services.

      for - stats - ecosystem disruption and financial losses study - Dutch investors risk 510 billion EUR or 36% of the Dutch 1.4 trillion EURO investment is at risk

  10. Oct 2023
    1. https://en.wikipedia.org/wiki/Shmita

      During shmita, the land is left to lie fallow and all agricultural activity, including plowing, planting, pruning and harvesting, is forbidden by halakha (Jewish law).

      The sabbath year (shmita; Hebrew: שמיטה, literally "release"), also called the sabbatical year or shǝvi'it (שביעית‎, literally "seventh"), or "Sabbath of The Land", is the seventh year of the seven-year agricultural cycle mandated by the Torah in the Land of Israel and is observed in Judaism.

  11. Mar 2023
    1. Hisz bűnösök vagyunk mi, akár a többi nép, s tudjuk miben vétkeztünk, mikor, hol és mikép, de élnek dolgozók itt, költők is bűntelen, és csecsszopók, akikben megnő az értelem, világít bennük, őrzik, sötét pincékbe bújva, míg jelt nem ír hazánkra újból a béke ujja, s fojtott szavunkra majdan friss szóval ők felelnek. Nagy szárnyadat borítsd ránk virrasztó éji felleg.

      a harmadik részben megváltozik az elbeszélő, Radnóti immár az egész magyarság nevében szól. stílusában a régi prédikátorokat idézve szól Istenhez, Isten nagyságát dicsőítve és a bűnös emberiséget ostorozva. a szomszédos népek bűnösnek kiáltottak ki minket, a költő azonban békevágytól vezetve vallja, hogy egy egész nép nem lehet bűnös, hiszen számtalan ártatlan tagja van; csecsemőktől egészen magáig a költőig.

      az utolsó sor elkülönül az eddigiektől. ebben a sorban egy hatalmas szárnyú óvó madár képe jelenik meg. az éjji felleg a bibliában a Gondviselő Istent jelenti. az egész világot beborító szárnyas virrasztó csak Isten lehet, hiszen csak ő képes az abszolút virrasztásra, aki soha nem alszik el sem szellemében sem testi valójában. Radnóti védelemért könyörög az Úrhoz az egész szenvedő emberiség számára.

  12. Mar 2021
    1. Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).

      AssayResult: 3.6

      AssayResultAssertion: Indeterminate

      StandardErrorMean: 0.11

    1. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 119.6

      AssayResultAssertion: Normal

      ReplicateCount: 22

      StandardErrorMean: 19.5

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

  13. Feb 2021
  14. Dec 2018
    1. foolish imaginations of his heart

      Constructs which mistake the head as superior to the heart or as an adequate starting place for imaginings will always lead to destruction since the head can not handle nor is it designed for the necessary embedding and recursion which is a seed bearing fruit in itself. But it is sure that, before the brain breaks down and eventually falls/fails, those who mistake it as the best foundation will inevitably turn to mocking them who follow through with flow of spirit through and back to the heart. (see Lehi's Dream 1 Nephi 8:26-27 and Nephi's visitation of the same dream in 1 Nephi 11:35-36)

      This phrase,"foolish imaginations" can and ought to be read as the "FULLish imaginations of his heart." In earlier verses we see that a FULL rendering of Lehi's heart brought about fulfillment on several levels already. This "fulfillment" even took the immediate form of a "filament" (pillar of light which struck a rock in front of Lehi just as the communication struck his heart with overpowering energy). The electrical charging effects of Full Imagining can be transmitted beyond the individual and others can be made to feel these effects, however, unless they are allowed to take hold in the heart where embedding and recursion can take place, then they are short lived and sometimes can have disastrous overall effect upon others who rely on second-hand spirit and external motivation. (see 1 Nephi 3:28-31 and 1 Nephi 17:53-54)

  15. Sep 2018
    1. In order to protect local interests, and to prevent sectional jealousies, it was found requisite that the three great divisions into which British North America is separated, should be represented in the Upper House on the principle of equality. There are three great sections, having different interests, in this proposed Confederation.

      §§. 21-36 & § 91(1) of the Constitution Act, 1867

      Referenced in Re: Authority of Parliament in relation to the Upper House, [1980] 1 SCR 54, 1979 CanLII 169 (SCC)

    2. To the Upper House is to be confided the protection of sectional interests ; therefore is it that the three great divisions are there equally represented, for the purpose of defending such interests against the combinations of majorities in the Assembly.

      §§. 21-36 & § 91(1) of the Constitution Act, 1867

      Referenced in Re: Authority of Parliament in relation to the Upper House, [1980] 1 SCR 54, 1979 CanLII 169 (SCC)

    1. But the very essence of our compact is that the union shall be federal and not legislative. Our Lower Canada friends have agreed to give us representation by population in the Lower House, on the express condition that they shall have equality in the Upper House. On no other condition could we have advanced a step ; and, for my part, I am quite willing they should have it. In maintaining the existing sectional boundaries and handing over the control of local matters to local bodies, we recognize, to a certain extent, a diversity of interests ; and it was quite natural that the protection for those interests, by equality in the Upper Chamber, should be demanded by the less numerous provinces.

      §§. 21-36 & § 91(1) of the Constitution Act, 1867

      Referenced in Re: Authority of Parliament in relation to the Upper House, [1980] 1 SCR 54, 1979 CanLII 169 (SCC)

  16. Jan 2015
    1. Ahhoz azonban, hogy egy valóban ütőképes tényfeltáró központot hozzunk létre, szükségünk van minél több ember támogatására. Ha bővíteni tudjuk az egyelőre szűkös költségvetésünket, akkor több újságíróval tudunk dolgozni, és több, illetve mélyebb nyomozó munkát tudunk végezni.