PatientID: 3

KindredID: 3

Case: F, 22Y0M, Korean

DiseaseAssertion: VHL

FamilyInfo: Family history present.

CasePresentingHPOs: HP:0010797 (hemangioblastoma)

CaseHPOFreeText: Multiple involvements of central nervous system HB.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.K196* (c.586A>T)

CaseProblemVariantFreeText: N/A

LegacyVariant: N/A

ClinVar: 196284 https://www.ncbi.nlm.nih.gov/clinvar/variation/196284/

CAID: CA020507 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.586A%3ET

gnomAD: N/A

VariantEvidence: N/A

MutationType: stop_gained

CivicName: K196* (c.586A>T)

MultipleGeneVariants: N/A

GroupID: 39

Case: 45Y0M, 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 was found in 1 VHL family with a single patient.

CasePresentingHPOs: HP:0009711; HP:0006880; HP:0005584 (retinal capillary hemangioma; cerebellar hemangioblastoma; renal cell carcinoma)

CaseHPOFreeText: patient had retinal capillary hemangioma diagnosed at 45Y, cerebellar hemangioblastomas diagnosed at 24Y, and RCC at 45Y

CaseNotHPOs: HP:0002666 (pheochromocytoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Supplementary Table S1.

Variant: p.K196Rfs*59 (c.584_585delAG) 

LegacyVariant: N/A

CaseProblemVariantFreeText: This mutation also automaps to NM_000551.3:c.585_586delGA

ClinVarID: 547831 https://www.ncbi.nlm.nih.gov/clinvar/variation/547831/

CAID: N/A

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_2_frameshift_variant

CivicName: K196fs (c.584_585delAG)

MultipleGeneVariants: N/A