ClinVar for Gene (Select 126862856) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 548094	GRCh38/hg38 19p13.2(chr19:11089362-11100346)x1	LDLR, LDLR-AS1 +2 more	Copy number loss	Hypercholesterolemia, familial, 1	GPathogenic
Select item 526771	NC_000019.10:g.(?_11089529)_(11100365_?)del	LDLR, LDLR-AS1 +2 more	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 264667	Single allele	LOC126862856, LDLR +2 more	Deletion	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 250990	c.67+4761_818-332del	LDLR, LOC126862856	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 250989	NM_000527.4(LDLR):c.67+3968_940+296dup	LDLR, LOC126862856	Duplication	Hypercholesterolemia, familial, 1	GPathogenic/Likely pathogenic
Select item 250924	NM_000527.4(LDLR):c.-1823_190+566del	LOC126862856, LDLR +2 more	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 250921	NG_009060.1(LDLR):g.[27134_32618del5485;4982_15965del10984]	LDLR, MIR6886 +3 more	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	LOC130063636, LOC130063637 +434 more	Copy number loss	See cases	GPathogenic
Select item 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	ANGPTL6, AP1M2 +184 more	Copy number loss	See cases	GPathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	ACP5, ANGPTL6 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 3712	FH Vancouver 4	LDLR, LDLR-AS1 +2 more	Deletion	Hypercholesterolemia, familial, 1	GConflicting classifications of pathogenicity
Select item 3710	FH French Canadian 5	LOC126862856, LDLR +2 more	Deletion	Hypercholesterolemia, familial, 1	GPathogenic