"Blueprint Genetics"[submitter] AND "LDLR"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3736	NM_000527.4(LDLR):c.313+1G>A	LDLR (R191H)	Single nucleotide variant (missense variant +2 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 180403	NM_000527.5(LDLR):c.1186+1G>T	LDLR	Single nucleotide variant (splice donor variant)	Hypercholesterolemia, familial, 1 +1 more	GPathogenic
Select item 3695	NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)	LDLR (A431T +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 180402	NM_000527.5(LDLR):c.1468T>C (p.Trp490Arg)	LDLR (W490R +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +2 more	GPathogenic/Likely pathogenic
Select item 222688	NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs)	LDLR (S493fs +3 more)	Microsatellite (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 222689	NM_000527.5(LDLR):c.1486_1487del (p.Gly496fs)	LDLR (G328fs +3 more)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1 +1 more	GPathogenic/Likely pathogenic
Select item 3699	NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)	LDLR (C681* +2 more)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype +5 more	GPathogenic/Likely pathogenic

ClinVar