"Color Diagnostics, LLC DBA Color Health"[submitter] AND "MIR6886"[gen - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3694	NM_000527.5(LDLR):c.1285G>A (p.Val429Met)	LDLR, MIR6886 (V429M +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenicFDA Recognized database
Select item 440636	NM_000527.5(LDLR):c.1359-31G>A	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia	GLikely benign
Select item 251805	NM_000527.5(LDLR):c.1359-31_1359-23delinsCGGCT	LDLR, MIR6886	Indel (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significanceFDA Recognized database
Select item 2773512	NM_000527.5(LDLR):c.1359-30C>A	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia	GUncertain significance
Select item 251806	NM_000527.5(LDLR):c.1359-30C>T	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia +3 more	GBenign
Select item 2773513	NM_000527.5(LDLR):c.1359-29G>C	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GLikely benign
Select item 251807	NM_000527.5(LDLR):c.1359-29G>A	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia +2 more	GLikely benign
Select item 2773514	NM_000527.5(LDLR):c.1359-26_1359-23del	LDLR, MIR6886	Deletion (non-coding transcript variant +1 more)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 922094	NM_000527.5(LDLR):c.1359-26G>A	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia	GLikely benign
Select item 2773515	NM_000527.5(LDLR):c.1359-14del	LDLR, MIR6886	Deletion (non-coding transcript variant +1 more)	Familial hypercholesterolemia	GUncertain significance
Select item 926244	NM_000527.5(LDLR):c.1359-14T>G	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GLikely benign
Select item 926525	NM_000527.5(LDLR):c.1359-10C>T	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GLikely benign
Select item 431527	NM_000527.5(LDLR):c.1359-6C>T	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1 +2 more	GConflicting classifications of pathogenicity
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 pathogenicFDA Recognized database
Select item 251810	NM_000527.5(LDLR):c.1359-3C>T	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia +1 more	GConflicting classifications of pathogenicity
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	GPathogenicFDA Recognized database
Select item 251864	NM_000527.5(LDLR):c.1474G>C (p.Asp492His)	LDLR, MIR6886 (D492H +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenicFDA Recognized database