PatientID: N/A

KindredID: 1

Case: M, 65Y0M, Ethnicity Unknown

DiseaseAssertion: bladder carcinoma

FamilyInfo: No family information provided.

CasePresentingHPOs: HP:0002862 (bladder carcinoma)

CaseHPOFreeText: Patient was a white male diagnosed with bladder urothelial carcinoma, who passed away at age 65Y0M.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: See table s3 for patient-related information.

Variant: p.L188V (c.562C>G)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 2225, https://www.ncbi.nlm.nih.gov/clinvar/variation/2225/

CAID: N/A

gnomAD: 0.00002121, https://gnomad.broadinstitute.org/variant/3-10191569-C-G

VariantEvidence: N/A

MutationType: missense variant; transversion

CivicName: L188V (c.562C>G)

MultipleGeneVariants: N/A

PatientID: 5

KindredID: 5

Case: M, 11Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: No details on family information.

CasePresentingHPOs: HP:0002666 (pheochromocytoma)

CaseHPOFreeText: Patient had clinical diagnosis of von Hippel Lindau syndrome and presented with pheochromocytoma.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: SBHB, SDHC, SDHD, SDHAF2, VHL, EPAS1 (exons 9 and 12), RET (exons 10–11 and 13–16), TMEM127 and MAX

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/by_canonicalid?canonicalid=CA351756196

gnomAD: N/A

VariantEvidence: N/A

MutationType: missense_variant; transversion

CivicName: V170G (c.509T>G)

MultipleGeneVariants: N/A