"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "LDLR"[gene - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 226314	NM_000527.5(LDLR):c.304C>T (p.Gln102Ter)	LDLR (Q102*)	Single nucleotide variant (nonsense +1 more)	Familial hypercholesterolemia +3 more	GPathogenic
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 36463	NM_000527.5(LDLR):c.362G>A (p.Cys121Tyr)	LDLR (C121Y +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +2 more	GLikely pathogenic
Select item 251256	NM_000527.5(LDLR):c.500G>A (p.Cys167Tyr)	LDLR (C167Y +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GPathogenic/Likely pathogenic
Select item 226342	NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)	LDLR (R350* +3 more)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 2627410	NM_000527.5(LDLR):c.1351A>G (p.Ile451Val)	LDLR (I283V +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance

ClinVar