ClinVar for PubMed (Select 23669246) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2713547	NM_000527.5(LDLR):c.2054C>G (p.Pro685Arg)	LDLR (P685R +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GLikely pathogenic
Select item 1057254	NM_000527.5(LDLR):c.679G>C (p.Asp227His)	LDLR (D186H +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GConflicting classifications of pathogenicity
Select item 851708	NM_000527.5(LDLR):c.679G>A (p.Asp227Asn)	LDLR (D186N +1 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia	GLikely pathogenic
Select item 252343	NM_000527.5(LDLR):c.2476C>A (p.Pro826Thr)	LDLR (P826T +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GLikely pathogenic
Select item 252251	NM_000527.5(LDLR):c.2187_2197del (p.Lys730fs)	LDLR (K552fs +3 more)	Deletion (frameshift variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 252220	NM_000527.5(LDLR):c.2099A>G (p.Asp700Gly)	LDLR (D700G +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 251915	c.(1586+1_1587-1)_(1845+1_1846-1)dup	LDLR	Duplication	Hypercholesterolemia, familial, 1	GConflicting classifications of pathogenicity
Select item 251822	NM_000527.5(LDLR):c.1379_1402delinsCAGCTTGACCCGC (p.His460_Val468delinsProAlaTer)	LDLR	Indel (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251511	NM_000527.5(LDLR):c.898A>T (p.Arg300Ter)	LDLR (R300* +3 more)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251489	NM_000527.5(LDLR):c.859G>T (p.Gly287Cys)	LDLR (G287C +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 251388	NM_000527.5(LDLR):c.680A>T (p.Asp227Val)	LDLR (D227V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +1 more	GPathogenic/Likely pathogenic
Select item 251366	NM_000527.5(LDLR):c.667_693del (p.Lys223_Cys231del)	LDLR	Deletion (inframe_deletion +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 251333	NM_000527.5(LDLR):c.629T>A (p.Ile210Asn)	LDLR (I210N +1 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +1 more	GConflicting classifications of pathogenicity
Select item 251173	NM_000527.5(LDLR):c.361T>A (p.Cys121Ser)	LDLR (C121S +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 226336	NM_000527.5(LDLR):c.912C>G (p.Asp304Glu)	LDLR (D304E +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 226302	NM_000527.5(LDLR):c.-121T>C	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia +3 more	GConflicting classifications of pathogenicity
Select item 200923	NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn)	LDLR (D700N +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 183136	NM_000527.5(LDLR):c.502G>A (p.Asp168Asn)	LDLR (D168N +1 more)	Single nucleotide variant (missense variant +1 more)	Homozygous familial hypercholesterolemia +5 more	GPathogenic/Likely pathogenic
Select item 161280	NM_000527.5(LDLR):c.859G>A (p.Gly287Ser)	LDLR (G287S +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 161267	NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)	LDLR (L401V +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +3 more	GConflicting classifications of pathogenicity
Select item 161266	NM_000527.5(LDLR):c.301G>A (p.Glu101Lys)	LDLR (E101K)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 36462	NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)	LDLR (V827I +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 3739	NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)	LDLR (C184Y +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 3731	NM_000527.5(LDLR):c.680_681del (p.Asp227fs)	LDLR (D186fs +1 more)	Deletion (frameshift variant +1 more)	Familial hypercholesterolemia +4 more	GPathogenic/Likely pathogenic
Select item 3702	NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)	LDLR (P685L +2 more)	Single nucleotide variant (missense variant +1 more)	Homozygous familial hypercholesterolemia +4 more	GPathogenic/Likely pathogenic
Select item 3690	NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)	LDLR (D227E +1 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +3 more	GPathogenic/Likely pathogenic
Select item 3685	NM_000527.5(LDLR):c.259T>G (p.Trp87Gly)	LDLR (W87G)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database

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Items: 27