"LDLR-LOVD, British Heart Foundation"[submitter] AND "MIR6886"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 251054	NM_000527.4(LDLR):c.190+984_1846-1160del	LDLR, MIR6886	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251409	NM_000527.5(LDLR):c.695-67_1586+371del	LDLR, MIR6886	Deletion (splice acceptor variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251546	c.941-2966_*2583+4485del	LDLR, MIR6886	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 250922	NG_009060.1(LDLR):g.[18284_22307del4024;27134_45290dup18157]	LDLR, MIR6886	Duplication (splice acceptor variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251711	NM_000527.4(LDLR):c.1186+700_2141-545del	LDLR, MIR6886	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251712	NM_000527.4(LDLR):c.1187-169_2312-790del	LDLR, MIR6886	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251726	NM_000527.5(LDLR):c.1197_2205del (p.Ala399_Tyr400insTer)	LDLR, MIR6886	Deletion (frameshift variant +2 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251805	NM_000527.5(LDLR):c.1359-31_1359-23delinsCGGCT	MIR6886, LDLR	Indel (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 251806	NM_000527.5(LDLR):c.1359-30C>T	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +3 more	GBenign
Select item 251807	NM_000527.5(LDLR):c.1359-29G>A	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia +1 more	GLikely benign
Select item 251808	NM_000527.5(LDLR):c.1359-5C>G	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 251809	NM_000527.5(LDLR):c.1359-4T>C	MIR6886, LDLR	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GLikely benign
Select item 251810	NM_000527.5(LDLR):c.1359-3C>T	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GConflicting classifications of pathogenicity
Select item 251811	NM_000527.5(LDLR):c.1359-1G>C	MIR6886, LDLR	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia +1 more	GPathogenic/Likely pathogenic
Select item 162499	NM_000527.5(LDLR):c.1359-1G>A	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database