PatientID: 8

KindredID: 3

Case: Sex Unknown, 9Y3M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: Positive VHL family history.

CasePresentingHPOs: HP:0009711, HP:0009715, HP:0010797, HP:0002666, HP:0005584 (retinal capillary hemangioma, papillary cystadenoma of the epididymis, hemangioblastoma, pheochromocytoma, renal cell carcinoma)

CaseHPOFreeText: At first presentation (age 5Y6M) the patient had a visual acuity of 20/125. The retinal angioma showed an endophytic growth pattern and was located in the temporal disc margin. Before age 5, the patient had experienced epidydimal cystadenoma and hemangioblastoma of the central nervous system. Either at first presentation or on follow-up the patient presented with renal cell carcinoma, pheochromocytoma, and hemangioblastoma of the CNS.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.H115R (c.344A>G)

LegacyVariant: p.H115R (c.557A>G)

CaseProblemVariantFreeText: N/A

ClinVarID: 664415 https://www.ncbi.nlm.nih.gov/clinvar/variation/664415/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: H115R (c.344A>G)

MultipleGeneVariants: N/A

PatientID: 4

KindredID: 4

Case: Sex Unknown, 45Y0M, 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 34, as well as renal cell carcinoma and abnormality of the pancreas at age 44.

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

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.H115R (c.344A>G)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA70049376, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.344A%3EG

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant; transition

CivicName: H115R (c.344A>G)

MultipleGeneVariants: N/A

GroupID: None

KindredID:9

DiseaseAssertion: VHL

GroupSize: 3

GroupNumberMales: N/A

GroupNumberFemales: N/A

GroupEthnicity: American Admixed/Latino

GroupAgeRange: N/A

GroupInfo: Three members of a South American family expressed this c.344delA mutation.

GroupPresentingHPOs: HP:0010797, HP:0009711, HP:0005584 (hemangioblastoma, retinal capillary hemangioma, renal cell carcinoma)

GroupHPOFreeText: N/A

GroupNotHPOs: HP:0002894, HP:0002666 (neoplasm of the pancreas, pheochromocytoma )

GroupNotHPOFreeText: N/A

GroupPreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.H115Pfs*44 (c.344delA)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID:N/A

CAID: CA70049370 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.344delA

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_1_frameshift_variant

CivicName: H115Pfs*44(c.344delA) and P61=(c.183C>G)

MultipleGeneVariants: Germline, VHL,c.c.183C>G (p.Pro61Pro)