The data of 18 patients with solid renal tumours associated with VHL disease were analyzed. All patients except for Patient 12 came from families with a definite VHL family history (the paper does not provide further details on this.) The patients came from 12 Chinese families and 5 were from the same family. Extrarenal manifestations of VHL disease were detected in 17 patients. Of 18 patients, 15 (including 6 asymptomatic) volunteered for DNA testing as previously described. Patients 6 and 7 had genetic testing and were found to have the same germline frameshift mutation c.447del (p.Asn150Ilefs*)(noted as c.661delA in the paper due to a difference in the VHL reference sequence notation used.). It is unclear if these patients are related. Patient 7 had family study DNA test as their reason for treatment. Patient 6 was a 50-year-old female with a medical history of synchronous bilateral solid renal tumors some which were further characterized as clear cell RCC, multiple renal cysts, pancreatic cyst. Patient 7 was a 48-year-old male with a medical history of solid renal tumours some which were further characterized as clear cell RCC, multiple renal cysts, CNS hemangioblastoma , pancreatic cyts. AMCG evidence codes: ’PP4’ because the patients phenotype is highly specific for a mutation in the VHL gene.

PatientID: 1

KindredID: 1

Case: 11Y0M, sex unknown, ethnicity unknown

DiseaseAssertion: VHL

FamilyInfo: N/A

CasePresentingHPOs: HP:0010797; HP:0009711 (hemangioblastoma; retinal capillary hemangioma)

CaseHPOFreeText: See Table 1&2 for retinal capillary hemangioma information

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.N150Ifs*9 (c.446delC)

CaseProblemVariantFreeText: Paper reports this as a c.446delG mutation, however a C is positioned at c.446

LegacyVariant: N/A

ClinVarID: N/A

CAID: CA432421904 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.446del

gnomAD: N/A

VariantEvidence: paper mistake of "c.446 del G" should rather be 446 del C.

MutationType: minus_1_frameshift_variant

CivicName: N150fs (c.446delC)

MultipleGeneVariants: N/A

PatientID: 7

KindredID: 7

Case: M, 48Y0M, Chinese

DiseaseAssertion: VHL

FamilyInfo: N/A

CasePresentingHPOs: HP:0009726; HP:0005562; HP:0010797; HP:0001737; HP:0006770 (Renal neoplasm, Multiple renal cysts, Hemangioblastoma, Pancreatic cysts, Clear cell renal cell carcinoma)

CaseHPOFreeText: Patient 7 had a medical history of a left solid renal tumor and multiple renal cysts. They also had central nervous system hemangioblastomas and pancreatic cysts.

CaseNotHPOs:None

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.N150Ifs*9 (c.447del)

LegacyVariant: c.661delA

CaseProblemVariantFreeText: N/A

ClinVar: N/A

CAID: CA432421904, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.447del

gnomAD: N/A

VariantEvidence: N/A

MutationType: minus_1_frameshift_variant

CivicName: N150fs (c.447del)

MultipleGeneVariants: N/A