"Revvity Omics, Revvity"[submitter] AND "LDLR"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 250955	NM_000527.4(LDLR):c.-136C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1 +2 more	GPathogenic/Likely pathogenic
Select item 250956	NM_000527.4(LDLR):c.-135C>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia +2 more	GPathogenic/Likely pathogenic
Select item 250968	NM_000527.5(LDLR):c.1A>T (p.Met1Leu)	LDLR, LDLR-AS1 (M1L)	Single nucleotide variant (non-coding transcript variant +2 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 226303	NM_000527.5(LDLR):c.6del (p.Trp4fs)	LDLR, LDLR-AS1 (W4fs)	Deletion (non-coding transcript variant +2 more)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic
Select item 250973	NM_000527.5(LDLR):c.11G>A (p.Trp4Ter)	LDLR, LDLR-AS1 (W4*)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia +3 more	GPathogenic
Select item 237860	NM_000527.5(LDLR):c.12G>A (p.Trp4Ter)	LDLR, LDLR-AS1 (W4*)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GPathogenic
Select item 250993	NM_000527.5(LDLR):c.68-2A>T	LDLR	Single nucleotide variant (splice acceptor variant)	Hypercholesterolemia, familial, 1 +2 more	GPathogenic/Likely pathogenic
Select item 922750	NM_000527.5(LDLR):c.73G>A (p.Asp25Asn)	LDLR (D25N)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +2 more	GUncertain significance
Select item 226304	NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)	LDLR (C27W)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 3683	NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)	LDLR (Q33*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 2441124	NM_000527.5(LDLR):c.117C>A (p.Cys39Ter)	LDLR (C125* +1 more)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 3741	NM_000527.5(LDLR):c.131G>A (p.Trp44Ter)	LDLR (W44*)	Single nucleotide variant (nonsense)	Homozygous familial hypercholesterolemia +4 more	GPathogenic/Likely pathogenic
Select item 440547	NM_000527.5(LDLR):c.172G>T (p.Glu58Ter)	LDLR (E58*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2433423	NM_000527.5(LDLR):c.176C>T (p.Ser59Phe)	LDLR (S145F +1 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 225097	NM_000527.5(LDLR):c.190+4A>T	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 251074	NM_000527.5(LDLR):c.195_196insAT (p.Val66fs)	LDLR (V66fs)	Insertion (frameshift variant +1 more)	Cardiovascular phenotype +2 more	GPathogenic
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 183083	NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)	LDLR (R81C)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 226309	NM_000527.5(LDLR):c.246C>A (p.Cys82Ter)	LDLR (C82*)	Single nucleotide variant (nonsense +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
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
Select item 251102	NM_000527.5(LDLR):c.265T>C (p.Cys89Arg)	LDLR (C89R)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 251105	NM_000527.5(LDLR):c.268G>A (p.Asp90Asn)	LDLR (D90N)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 226313	NM_000527.5(LDLR):c.269A>G (p.Asp90Gly)	LDLR (D90G)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 369854	NM_000527.5(LDLR):c.299A>T (p.Asp100Val)	LDLR (D100V)	Single nucleotide variant (missense variant +1 more)	not provided +4 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 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 189296	NM_000527.5(LDLR):c.313+2T>C	LDLR	Single nucleotide variant (synonymous variant +2 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 251142	NM_000527.5(LDLR):c.314-2A>C	LDLR	Single nucleotide variant (splice acceptor variant +1 more)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 251148	NM_000527.5(LDLR):c.314-1G>A	LDLR	Single nucleotide variant (splice acceptor variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 251154	NM_000527.5(LDLR):c.324_325delinsTC (p.Cys109Arg)	LDLR (C109R +1 more)	Indel (missense variant +1 more)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic/Likely pathogenic
Select item 237872	NM_000527.5(LDLR):c.337G>A (p.Glu113Lys)	LDLR (E113K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 237873	NM_000527.5(LDLR):c.352G>A (p.Asp118Asn)	LDLR (D118N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 251213	NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)	LDLR (E140K +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 251216	NM_000527.5(LDLR):c.420G>C (p.Glu140Asp)	LDLR (E140D +1 more)	Single nucleotide variant (missense variant +1 more)	Homozygous familial hypercholesterolemia +4 more	GPathogenic/Likely pathogenic
Select item 251219	NM_000527.5(LDLR):c.427T>C (p.Cys143Arg)	LDLR (C143R +1 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +1 more	GPathogenic/Likely pathogenic
Select item 251237	NM_000527.5(LDLR):c.460C>T (p.Gln154Ter)	LDLR (Q154* +1 more)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 2441111	NM_000527.5(LDLR):c.494G>A (p.Trp165Ter)	LDLR (W124* +1 more)	Single nucleotide variant (nonsense +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 200918	NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)	LDLR (C167* +1 more)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 183136	NM_000527.5(LDLR):c.502G>A (p.Asp168Asn)	LDLR (D168N +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +5 more	GPathogenic/Likely pathogenic
Select item 251266	NM_000527.5(LDLR):c.514G>A (p.Asp172Asn)	LDLR (D172N +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 3686	NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)	LDLR (S177L +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic 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 200919	NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr)	LDLR (C197Y +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +4 more	GPathogenic/Likely pathogenic
Select item 251335	NM_000527.5(LDLR):c.631C>T (p.His211Tyr)	LDLR (H211Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 226329	NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del)	LDLR (G219del +1 more)	Microsatellite (inframe_deletion +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 226331	NM_000527.5(LDLR):c.661G>A (p.Asp221Asn)	LDLR (D221N +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic/Likely pathogenic
Select item 183092	NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)	LDLR (D221G +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 226332	NM_000527.5(LDLR):c.664T>C (p.Cys222Arg)	LDLR (C222R +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic 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 403632	NM_000527.5(LDLR):c.681C>A (p.Asp227Glu)	LDLR (D227E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 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 226333	NM_000527.5(LDLR):c.682G>T (p.Glu228Ter)	LDLR (E228* +1 more)	Single nucleotide variant (nonsense +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 200920	NM_000527.5(LDLR):c.718G>A (p.Glu240Lys)	LDLR (E240K +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 251437	NM_000527.5(LDLR):c.761A>C (p.Gln254Pro)	LDLR (Q254P +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 226334	NM_000527.5(LDLR):c.796G>A (p.Asp266Asn)	LDLR (D266N +2 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
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 251488	NM_000527.5(LDLR):c.858C>A (p.Ser286Arg)	LDLR (S286R +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic 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 369867	NM_000527.5(LDLR):c.905del (p.Cys302fs)	LDLR (C134fs +3 more)	Deletion (frameshift variant)	Familial hypercholesterolemia +1 more	GPathogenic/Likely pathogenic
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 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 226337	NM_000527.5(LDLR):c.917C>T (p.Ser306Leu)	LDLR (S306L +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +3 more	GPathogenic/Likely pathogenic
Select item 251539	NM_000527.5(LDLR):c.939C>A (p.Cys313Ter)	LDLR (C313* +3 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GPathogenic
Select item 183105	NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser)	LDLR (G335S +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 183106	NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)	LDLR (G343S +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
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 226343	NM_000527.5(LDLR):c.1049G>C (p.Arg350Pro)	LDLR (R350P +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 251665	NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)	LDLR (C368Y +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 226347	NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs)	LDLR (Y207fs +3 more)	Duplication (frameshift variant)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 251685	NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)	LDLR (C379R +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic/Likely pathogenic
Select item 226349	NM_000527.5(LDLR):c.1187-10G>A	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1 +4 more	GPathogenic/Likely pathogenic
Select item 251713	NM_000527.5(LDLR):c.1187-2A>G	LDLR	Single nucleotide variant (splice acceptor variant)	Familial hypercholesterolemia +2 more	GPathogenic/Likely pathogenic
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 226351	NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)	LDLR (R406W +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 228798	NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln)	LDLR (R406Q +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 251740	NM_000527.5(LDLR):c.1223A>T (p.Glu408Val)	LDLR (E408V +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 183110	NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)	LDLR (R416W +3 more)	Single nucleotide variant (missense variant)	Homozygous familial hypercholesterolemia +4 more	GPathogenic/Likely pathogenic
Select item 251754	NM_000527.5(LDLR):c.1247G>T (p.Arg416Leu)	LDLR (R416L +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GLikely pathogenic
Select item 251752	NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln)	LDLR (R416Q +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 225182	NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys)	LDLR (E418K +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GConflicting classifications of pathogenicity
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 251783	NM_000527.5(LDLR):c.1322T>C (p.Ile441Thr)	LDLR (I441T +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 251792	NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys)	LDLR (W443C +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +4 more	GPathogenic/Likely pathogenic
Select item 251808	NM_000527.5(LDLR):c.1359-5C>G	LDLR, MIR6886	Single nucleotide variant (non-coding transcript variant +1 more)	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 183116	NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr)	LDLR (D472Y +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
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 251874	NM_000527.5(LDLR):c.1502C>T (p.Ala501Val)	LDLR (A501V +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 226359	NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)	LDLR (G516S +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 3696	NM_000527.5(LDLR):c.1567G>A (p.Val523Met)	LDLR (V523M +3 more)	Single nucleotide variant (missense variant)	Homozygous familial hypercholesterolemia +3 more	GPathogenic/Likely pathogenic
Select item 226363	NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)	LDLR (A540T +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 3698	NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)	LDLR (G549D +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 251973	NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp)	LDLR (N564D +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 226365	NM_000527.4(LDLR):c.1690A>C (p.Asn564His)	LDLR (N564H +3 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 224616	NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser)	LDLR (N564S +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 420598	NM_000527.5(LDLR):c.1706-1G>C	LDLR	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 200921	NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)	LDLR (H583Y +3 more)	Single nucleotide variant (missense variant)	not provided +4 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

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