Case#: Variant not associated with a proband. Variant listed in supplementary materials in Supplementary Table 4

DiseaseAssertion: Mucopolysaccharidosis type I, MPS I

FamilyInfo: N/A

CasePresentingHPOs:

CaseHPOFreeText:

CaseNotHPOs:

CaseNotHPOFreeText:

CaseEnzymeAssay: N/A

CaseUrineGAGs: N/A

CaseERT: N/A

CaseBMT: N/A

Variant1: H33Q

Variant1ClinVarID: 2134405

Variant1CAID: CA355945479

Variant2: N/A

Variant2ClinVarID: N/A

Variant2CAID: N/A

AdditionalVariants: N/A

ParentalGenotype: N/A

PreviouslyPublished: N/A

Medical records of 26 patients with germline mutations of the VHL gene who had been diagnosed with VHL disease in Severance Hospital (Seoul, Republic of Korea) and Samsung Medical Center (Seoul, Republic of Korea) between 2003 and 2012 were respectively reviewed. Peripheral blood leukocytes were isolated and directly sequenced. One 17Y female patient (Patient 49) presented with multiple and/or bilateral renal cell carcinoma and central nervous system hemangioblastoma. She had a germline missense mutation in the VHL gene (c.586A>T; Lys196Stop). The patient had a positive family history of VHL disease and was diagnosed with VHL Type 1. Phenotypes revised from previous report (PMID 19270817).