"All of Us Research Program, National Institutes of Health"[submitter] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3072455	NM_000527.5(LDLR):c.1359-31G>C	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GLikely benign
Select item 3072454	NM_000527.5(LDLR):c.1359-30C>G	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3072042	NM_000527.5(LDLR):c.1359-27_1359-3dup	LDLR, MIR6886	Duplication (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
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 3069516	NM_000527.5(LDLR):c.1359-28C>A	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	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 3386988	NM_000527.5(LDLR):c.1359-23G>A	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GLikely benign
Select item 3071542	NM_000527.5(LDLR):c.1359-10_1359-8del	LDLR, MIR6886	Microsatellite (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	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)	not provided +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 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