"Revvity Omics, Revvity"[submitter] AND "LDLR-AS1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 250955	NC_000019.10:g.11089413C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 250956	NC_000019.10:g.11089414C>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 250968	NM_000527.5(LDLR):c.1A>T (p.Met1Leu)	LDLR, LDLR-AS1 (M1L)	Single nucleotide variant (non-coding transcript variant +2 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 226303	NM_000527.5(LDLR):c.6del (p.Trp4fs)	LDLR, LDLR-AS1 (W4fs)	Deletion (non-coding transcript variant +2 more)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic
Select item 250973	NM_000527.5(LDLR):c.11G>A (p.Trp4Ter)	LDLR, LDLR-AS1 (W4*)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +3 more	GPathogenic
Select item 237860	NM_000527.5(LDLR):c.12G>A (p.Trp4Ter)	LDLR, LDLR-AS1 (W4*)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GPathogenic

ClinVar