"CSER _CC_NCGL, University of Washington"[submitter] AND "LDLR"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 161272	NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)	LDLR, LDLR-AS1 (G20R)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GBenign FDA Recognized database
Select item 68099	NM_000527.5(LDLR):c.148G>T (p.Ala50Ser)	LDLR (A50S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 161273	NM_000527.5(LDLR):c.185C>T (p.Thr62Met)	LDLR (T62M)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 161289	NM_000527.5(LDLR):c.232C>T (p.Arg78Cys)	LDLR (R78C)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 161269	NM_000527.5(LDLR):c.296C>G (p.Ser99Ter)	LDLR (S99*)	Single nucleotide variant (nonsense +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
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 161261	NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)	LDLR (R253W +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 3740	NM_000527.5(LDLR):c.782G>T (p.Cys261Phe)	LDLR (C261F +2 more)	Single nucleotide variant (missense variant +1 more)	Homozygous familial hypercholesterolemia +3 more	GPathogenic/Likely pathogenic
Select item 161287	NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)	LDLR (D266E +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 161279	NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)	LDLR (G269D +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely benign FDA Recognized database
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 161268	NM_000527.5(LDLR):c.862G>A (p.Glu288Lys)	LDLR (E288K +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 161281	NM_000527.5(LDLR):c.907C>T (p.Arg303Trp)	LDLR (R303W +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 3692	NM_000527.5(LDLR):c.910G>A (p.Asp304Asn)	LDLR (D304N +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 161282	NM_000527.5(LDLR):c.967G>A (p.Gly323Ser)	LDLR (G323S +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 161263	NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)	LDLR (G324S +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GBenign FDA Recognized database
Select item 161274	NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)	LDLR (D342N +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GBenign FDA Recognized database
Select item 161275	NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)	LDLR (E353K +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 36452	NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala)	LDLR (D362A +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 161283	NM_000527.5(LDLR):c.1166C>T (p.Thr389Met)	LDLR (T389M +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 161267	NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)	LDLR (L401V +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 36453	NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys)	LDLR (E408K +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 161276	NM_000527.5(LDLR):c.1238C>T (p.Thr413Met)	LDLR (T413M +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 162499	NM_000527.5(LDLR):c.1359-1G>A	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 161277	NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)	LDLR (G478R +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 161284	NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn)	LDLR (D482N +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 161270	NM_000527.5(LDLR):c.1467C>G (p.Tyr489Ter)	LDLR (Y489* +3 more)	Single nucleotide variant (nonsense)	Familial hypercholesterolemia +1 more	GPathogenic/Likely pathogenic
Select item 161285	NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)	LDLR (D492N +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 161271	NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)	LDLR (G592E +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 161290	NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)	LDLR (R595W +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 161264	NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser)	LDLR (A606S +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 161288	NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)	LDLR (V613I +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +2 more	GConflicting classifications of pathogenicity
Select item 161286	NM_000527.5(LDLR):c.2252G>A (p.Arg751Gln)	LDLR (R751Q +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 161262	NM_000527.5(LDLR):c.2282C>T (p.Thr761Met)	LDLR (T761M +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 161278	NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)	LDLR (R814Q +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +4 more	GConflicting classifications of pathogenicity
Select item 161265	NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys)	LDLR (N825K +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic 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

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Items: 37