"Robarts Research Institute, Western University"[submitter] AND "LDLR- - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 369874	Single allele	LDLR, LDLR-AS1 +1 more	Deletion	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 548097	GRCh38/hg38 19p13.2(chr19:11089362-11107515)x1	LDLR, LDLR-AS1 +2 more	Copy number loss	Hypercholesterolemia, familial, 1	GPathogenic
Select item 548095	GRCh38/hg38 19p13.2(chr19:11089362-11089616)x1	LDLR, LDLR-AS1	Copy number loss	Hypercholesterolemia, familial, 1	GPathogenic
Select item 548094	GRCh38/hg38 19p13.2(chr19:11089362-11100346)x1	LDLR, LDLR-AS1 +2 more	Copy number loss	Hypercholesterolemia, familial, 1	GPathogenic
Select item 369864	NM_000527.5(LDLR):c.16_17insTTCCT (p.Trp6fs)	LDLR, LDLR-AS1 (W6fs)	Insertion (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic

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