Hypothesis

#9Multiple retinal HMB (36)32c.340+617C>G‡NANANANANANAPathogenic

PatientID: 9

KindredID: 9

Case: Sex Unknown, 68Y0M, Ethnicity Unknown

DiseaseAssertion: retinal capillary hemangioma

FamilyInfo: The patient's mother also carried the variant and had her first screening at the age of 70 years old, which diagnosed one pancreatic cyst and multiple vertebral body haemangiomas.

CasePresentingHPOs: HP:0009711 (retinal capillary hemangioma)

CaseHPOFreeText: A retinal HB diagnosed first at 36Y was found, with follow up of a 32 year duration.

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: Yes

Variant: c.340+617C>G

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: N/A

CAID: CA915941841 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.340%2B617C>G

gnomAD: N/A

VariantEvidence: N/A

MutationType: splice_site_variant; intron_variant

CivicName: Splice Site (c.340+617C>G)

MultipleGeneVariants: N/A

InheritancePattern:AutosomalDominant Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:retinalcapillaryhemangioma:36 CivicName:SpliceSite(c.340+617C>G) MutationType:splice_site_variant AminoAcidChange:N/A cDNAposition:N/A ProteinPosition:N/A CAID:CA915941841 ClinVarID:N/A Familial SupplementalData MutationType:intron_variant inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation

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