PatientID: N/A

KindredID: 5

Case: Sex Unknown, 28Y0M, Ethnicity Unknown

DiseaseAssertion: Asymptomatic

FamilyInfo: Two first degree relatives were found to have the same mutation in the VHL gene. One relative had no features of VHL disease at 38 years old, and the other first degree relative presented with a cerebellar hemangioblastoma at 39 years old.

CasePresentingHPOs: N/A

CaseHPOFreeText: No clinical features of VHL disease

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R200W (c.598C>T)

LegacyVariant: p.R200W (c.811C>T)

ClinVarID: 2232 (https://www.ncbi.nlm.nih.gov/clinvar/variation/2232/)

CAID: N/A

gnomAD: 0.0002016 (https://gnomad.broadinstitute.org/variant/3-10191605-C-T)

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: R200W(c.598C>T)

MultipleGeneVariants: N/A

PatientID: II.2

KindredID: 3

Case: M, 0Y6M, Ethnicity Unknown

DiseaseAssertion: Polycythemia

FamilyInfo: The patient had an affected brother (II.1) with the same mutation and polycythemia. Biologic material from parents were unavailable but Chuvash core haplotype analysis demonstrated that all patients were compound heterozygous, with 1 mutation being inherited from each parent. See Figure 2B for family pedigree.

CohortInfo: Patients with Chuvash polycythemia for whom VHL R200W had been found in a heterozygous state.

CasePresentingHPOs: HP:0001901 (Polycythemia)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R200W (c.598C>T)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 2232 https://www.ncbi.nlm.nih.gov/clinvar/variation/2232/

CAID: N/A

gnomAD: 0.0002016 https://gnomad.broadinstitute.org/variant/3-10191605-C-T

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: c.340+770T>C and R200W (c.598C>T)

MultipleGeneVariants: Germline, VHL, c.340+770T>C

PatientID: IV-3

KindredID: 1

Case: F, 36Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: Her paternal grandmother (II,2) did not carry the mutation. Her paternal grandfather (II-1) died age 42 from a cerebellar hemangioblastoma. Her uncle (III,1) did not harbour the mutation. The patient's father was the proband (III,2) and carried the mutation, presenting with clear cell renal cell carcinoma, hemangioblastoma of CNS, and retinal capillary hemangioblastoma. The mother did not carry the mutation. The patient had one unaffected sister (IV-1) and another who carried the mutation (IV-2) and had a history of pheohcromocytoma, clear cell renal cell carcinoma, hemangioblastoma of the CNS, and retinal capillary hemangioblastoma. Refer to pedigree in Figure 1.

CasePresentingHPOs: HP:0030405, HP:0010797, HP:0009711 ( pancreatic endocrine tumour, hemangioblastoma, retinal capillary hemangioma)

CaseHPOFreeText: N/A

CaseNotHPOs: HP:0006770, HP:0002666 (clear cell renal cell carcinoma, pheochromocytoma )

CaseNotHPOFreeText: No erythrocytosis; the hematocrit, red blood cells count and Epo levels were all normal.

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Yes supplemental data and figures. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5555745/bin/NIHMS881280-supplement-Supplemental_Data.pdf

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5555745/bin/NIHMS881280-supplement-Supplemental_Figures.pdf

Variant: p.R200W (c.598C>T)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 2232 https://www.ncbi.nlm.nih.gov/clinvar/variation/2232/

CAID: CA020510 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.598C%3ET

gnomAD: 0.0002016 https://gnomad.broadinstitute.org/variant/3-10191605-C-T

VariantEvidence: The patient was a heterozygous carrier of a single R200W and R161Q mutation (both on the same VHL allele).

MutationType: missense_variant;transition

CivicName:R200W(c.598C>T) and R161Q(c.482G>A)

MultipleGeneVariants: Germline, VHL, c.482G>A (p.Arg161Gln)

PatientID: III-2

KindredID: 1

Case: M, 62Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: His mother (II,2) did not carry the mutation. His father (II-1) died age 42 from a cerebellar hemangioblastoma, while his paternal grandparents died at an advanced age and had no known history of VHL manifestations. His brother (III,1) did not harbour the mutation. The patient and his wife (III,3) who did not carry the mutation, had 3 daughters; two with the mutation and one without. Two of his daughters who carried the mutation, aged 28 and 36 (IV-2, IV-3), had a personal history of CNS and retinal hemangioblastomas. Patient IV-2 recently developed a ccRCC and a pheochromocytoma, and patient IV-3 a pancreatic neuroendocrine tumor. Refer to pedigree in Figure 1.

CasePresentingHPOs: HP:0006770, HP:0010797, HP:0009711 (clear cell renal cell carcinoma, hemangioblastoma, retinal capillary hemangioma)

CaseHPOFreeText: The patient died at age 62 of CNS complications.

CaseNotHPOs: HP:0002666, HP:0030405 (pheochromocytoma, pancreatic endocrine tumour)

CaseNotHPOFreeText: No erythrocytosis; the hematocrit, red blood cells count and Epo levels were all normal.

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Yes supplemental data and figures. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5555745/bin/NIHMS881280-supplement-Supplemental_Data.pdf

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5555745/bin/NIHMS881280-supplement-Supplemental_Figures.pdf

Variant: p.R200W (c.598C>T)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 2232 https://www.ncbi.nlm.nih.gov/clinvar/variation/2232/

CAID: CA020510 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.598C%3ET

gnomAD: 0.0002016 https://gnomad.broadinstitute.org/variant/3-10191605-C-T

VariantEvidence: The patient was a heterozygous carrier of a single R200W and R161Q mutation (both on the same VHL allele).

MutationType: missense_variant;transition

CivicName:R200W(c.598C>T) and R161Q(c.482G>A)

MultipleGeneVariants: Germline, VHL, c.482G>A (p.Arg161Gln)

PatientID: B5

KindredID: 5

Case: Sex Unknown, 39Y0M, Ethnicity Unknown

DiseaseAssertion: cerebellar hemangioblastoma

FamilyInfo: Two first degree relatives were found to have the same mutation in the VHL gene, both had no features of VHL disease at 28 and 38 years old

CasePresentingHPOs: HP:0006880 (cerebellar hemangioblastoma)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: no other clinical features were found after the cerebellar hemangioblastoma during 6 years and 3 month follow-up

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R200W (c.598C>T)

LegacyVariant: p.R200W (c.811C>T)

ClinVarID: 2232 (https://www.ncbi.nlm.nih.gov/clinvar/variation/2232/)

CAID: N/A

gnomAD: 0.0002016 (https://gnomad.broadinstitute.org/variant/3-10191605-C-T)

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: R200W(c.598C>T)

MultipleGeneVariants: N/A

PatientID: II.1

KindredID: F4

Case: M, 7Y0M, Ethnicity Unknown

DiseaseAssertion: Polycythemia

FamilyInfo: Variant c.340+694_340+711dup is inherited from mother (genetically confirmed) and variant R200W (c.598C>T) is assumed to be inherited from father.

CohortInfo: Patients with Chuvash polycythemia for whom VHL R200W had been found in a heterozygous state.

CasePresentingHPOs: HP:0001901; HP:0002625; HP:0001342 (Polycythemia, Deep venous thrombosis, Cerebral hemorrhage)

CaseHPOFreeText: Diagnosed with erythrocytosis (Polycythemia), deep vein thrombosis, intracerebral hemorrhage at age 7 (DOB: 1990).

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.R200W (c.598C>T)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 2232, https://www.ncbi.nlm.nih.gov/clinvar/variation/2232/

CAID: N/A

gnomAD: 0.0002016, https://gnomad.broadinstitute.org/variant/3-10191605-C-T

VariantEvidence: Variants are heterozygous.

MutationType: missense_variant;transition

CivicName: R200W (c.598C>T) and c.340+694_340+711dup

MultipleGeneVariants: Germline, VHL, c.340+694_340+711dup

MultipleGeneVariants: Germline, Factor V Leiden

Top 10 Worst typewriters<br /> by [[Walid Saad]]<br /> accessed on 2025-09-18T23:49:39

https://typewriterdatabase.com/Kmart+%28Brother%29.200.653.bmys

The Kmart 200 (Brother) looks like a close replica for the design of the Remington 666 (Brother).

A Quick Overview on the Groma Kolibri by [[Typewriter Chicago]]

Lucas Dul loves the Groma Kolibri as one of the finest (ultraportable) typewriters out there.

He also loves the Omega 2 (which is nearly identical to the Princess 200.)

1. Create a dynamic and supportive environment:
2. Support collaborative learning:
3. Incorporate diverse activities:
4. Provide clear objectives:
5. Provide feedback and encourage reflection:

Here is the place for awe-inspiring numbers.

Thinking with Carl Von Clausewitz's theory that war is an extension of a nation's politics, the dialectical synthesis of the political sphere and physical violence.

These trends will hinder internet communication. I think restrictions should lighten up, and filtering should be less important.