PatientID: III1(Ca001)

KindredID: C

Case: F, Age Unknown, Ethnicity Unknown

DiseaseAssertion: Asymptomatic

FamilyInfo: The patient’s grandfather (I-2) presented with hemangioblastoma and possessed the same exon 2 deletion. The patient’s mother also possessed the deletion and had hemangioblastoma. Mother’s sister (II-3) had retinoblastoma, pancreatic cyst and pheochromocytoma, while the mother’s other sibling (II-5) had hemangioblastoma, pancreatic cyst, and clear cell renal carcinoma. The patient’s 2 cousins each possessed the same deletion, but did not exhibit phenotypes (Please see Figure 1. Family C matches with Pedigree B).

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: HP:0010797; HP:0006770; HP:0001737; HP:0002666; HP:0009919 (Hemangioblastoma; clear cell renal cell carcinoma; pancreatic cysts; pheochromocytoma, retinoblastoma)

CaseNotHPOFreeText: Patient did not present with any symptoms.

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: Exon 2 Deletion

LegacyVariant: N/A

CaseProblemVariantFreeText: large fragment deletion in exon 2

ClinVarID: N/A

CAID: N/A

gnomAD: N/A

VariantEvidence: Variant reported as GRCh37 chr3:10188300ATATCACACTGCCA>T in paper

MutationType: minus_2_frameshift_variant; deletion

CivicName: Exon 2 (deletion)

MultipleGeneVariants: N/A

PatientID: II3(Cb01)

KindredID: C

Case: F, 34Y0M, Ethnicity Unknown

DiseaseAssertion: VHL

FamilyInfo: Patient’s father (I-2) presented with hemangioblastoma and possessed the same exon 2 deletion. The patient’s two siblings also possessed the deletion. The sister (II-1) had hemangioblastoma, while the other sibling (II-5) had hemangioblastoma, pancreatic cyst, and clear cell renal carcinoma. The patient and her two siblings each had a child and all possessed the same deletion, but did not exhibit phenotypes (Please see Figure 1. Family C matches with Pedigree B).

CasePresentingHPOs: HP:0009919; HP:0002666; HP:0001737 (Retinoblastoma; Pheochromocytoma; Pancreatic cysts)

CaseHPOFreeText: Patient presented with Retinoblastoma, pheochromocytoma, and pancreatic cystic disease.

CaseNotHPOs: HP:0006770; HP:0010797 (Clear cell renal cell carcinoma; hemangioblastoma)

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: Exon 2 Deletion

LegacyVariant: N/A

CaseProblemVariantFreeText: large fragment deletion in exon 2

ClinVarID: N/A

CAID: N/A

gnomAD: N/A

VariantEvidence: Variant reported as GRCh37 chr3:10188300ATATCACACTGCCA>T in paper

MutationType: minus_2_frameshift_variant; deletion

CivicName: Exon 2 (deletion)

MultipleGeneVariants: N/A