ClinVar (all) for Orgtrack (Select 506920) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 689352	NM_000527.5(LDLR):c.2138del (p.Thr713fs)	LDLR (T545fs +2 more)	Deletion (frameshift variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 689351	NM_000527.5(LDLR):c.1594T>A (p.Tyr532Asn)	LDLR (Y364N +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 689350	NM_000527.5(LDLR):c.1261A>G (p.Ser421Gly)	LDLR (S253G +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely benign
Select item 689349	NM_000527.5(LDLR):c.1049G>A (p.Arg350Gln)	LDLR (R182Q +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 689348	NM_000527.5(LDLR):c.926C>A (p.Pro309His)	LDLR (P141H +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 689347	NM_000527.5(LDLR):c.694G>T (p.Ala232Ser)	LDLR (A191S +1 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 689346	NM_000527.5(LDLR):c.684G>T (p.Glu228Asp)	LDLR (E187D +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 689345	NM_000527.5(LDLR):c.518G>C (p.Cys173Ser)	LDLR (C132S +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic

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