"GeneDx"[submitter] AND "LDLR"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 237861	NM_000527.5(LDLR):c.-188C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 250944	NC_000019.10:g.11089396C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1 +3 more	GConflicting classifications of pathogenicity
Select item 226299	NC_000019.10:g.11089429C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance 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 250981	NM_000527.5(LDLR):c.44T>C (p.Leu15Pro)	LDLR, LDLR-AS1 (L15P)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 250985	NM_000527.5(LDLR):c.56C>T (p.Ala19Val)	LDLR, LDLR-AS1 (A19V)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia +2 more	GUncertain significance
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 235625	NM_000527.5(LDLR):c.67+18C>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 1712228	NM_000527.5(LDLR):c.67+140C>T	LDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1678730	NM_000527.5(LDLR):c.67+184C>G	LDLR	Single nucleotide variant (intron variant)	not provided	GBenign
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 251005	NM_000527.5(LDLR):c.68-1G>C	LDLR	Single nucleotide variant (splice acceptor variant)	Familial hypercholesterolemia +3 more	GPathogenic
Select item 251010	NM_000527.5(LDLR):c.81C>T (p.Cys27=)	LDLR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign
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 430745	NM_000527.5(LDLR):c.82G>A (p.Glu28Lys)	LDLR (E28K)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 3343845	NM_000527.5(LDLR):c.86G>C (p.Arg29Thr)	LDLR (R115T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 453084	NM_000527.5(LDLR):c.90C>G (p.Asn30Lys)	LDLR (N30K)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +3 more	GUncertain significance
Select item 251012	NM_000527.5(LDLR):c.90C>T (p.Asn30=)	LDLR	Single nucleotide variant (synonymous variant)	Familial hypercholesterolemia +4 more	GConflicting classifications of pathogenicity
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 2501630	NM_000527.5(LDLR):c.118A>T (p.Ile40Phe)	LDLR (I126F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3741	NM_000527.5(LDLR):c.131G>A (p.Trp44Ter)	LDLR (W44*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 251034	NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)	LDLR (D47N)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 68099	NM_000527.5(LDLR):c.148G>T (p.Ala50Ser)	LDLR (A50S)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +5 more	GConflicting classifications of pathogenicity
Select item 923931	NM_000527.5(LDLR):c.153G>C (p.Glu51Asp)	LDLR (E51D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 251041	NM_000527.5(LDLR):c.168TGA[1] (p.Asp57del)	LDLR (D57del)	Microsatellite (inframe_deletion)	Familial hypercholesterolemia +2 more	GConflicting classifications of pathogenicity
Select item 251040	NM_000527.5(LDLR):c.169G>A (p.Asp57Asn)	LDLR (D57N)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
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 1712176	NM_000527.5(LDLR):c.190+58C>T	LDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1712130	NM_000527.5(LDLR):c.190+172C>T	LDLR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 251078	NM_000527.5(LDLR):c.214del (p.Asp72fs)	LDLR (D72fs)	Deletion (frameshift variant +1 more)	Familial hypercholesterolemia +4 more	GPathogenic
Select item 251079	NM_000527.5(LDLR):c.223T>A (p.Cys75Ser)	LDLR (C75S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 251082	NM_000527.5(LDLR):c.230del (p.Gly77fs)	LDLR (G77fs)	Deletion (frameshift variant +1 more)	Familial hypercholesterolemia +2 more	GPathogenic/Likely pathogenic
Select item 251081	NM_000527.5(LDLR):c.226G>T (p.Gly76Trp)	LDLR (G76W)	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 660717	NM_000527.5(LDLR):c.249delinsGG (p.Ile83fs)	LDLR (I83fs)	Indel (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 251097	NM_000527.5(LDLR):c.257_265del (p.Phe86_Arg88del)	LDLR	Deletion (inframe_deletion +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
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 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 251118	NM_000527.5(LDLR):c.292G>A (p.Gly98Ser)	LDLR (G98S)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 369854	NM_000527.5(LDLR):c.299A>T (p.Asp100Val)	LDLR (D100V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
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 226314	NM_000527.5(LDLR):c.304C>T (p.Gln102Ter)	LDLR (Q102*)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype +3 more	GPathogenic
Select item 251132	NM_000527.5(LDLR):c.313C>T (p.Pro105Ser)	LDLR (P105S)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 226316	NM_000527.5(LDLR):c.313_313+1del	LDLR	Deletion (splice donor variant +1 more)	Homozygous familial hypercholesterolemia +3 more	GPathogenic/Likely pathogenic
Select item 228358	NM_000527.5(LDLR):c.313+1G>C	LDLR (R191P)	Single nucleotide variant (missense variant +2 more)	LDLR-related disorder +5 more	GConflicting classifications of pathogenicity
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 419334	NM_000527.5(LDLR):c.313+3A>C	LDLR	Single nucleotide variant (intron variant)	not provided +1 more	GLikely pathogenic
Select item 251136	NM_000527.5(LDLR):c.313+5G>A	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia +3 more	GConflicting classifications of pathogenicity
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)	Familial hypercholesterolemia +3 more	GPathogenic/Likely pathogenic
Select item 2663701	NM_000527.5(LDLR):c.317C>T (p.Pro106Leu)	LDLR (P106L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 226319	NM_000527.5(LDLR):c.326G>A (p.Cys109Tyr)	LDLR (C109Y +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic/Likely pathogenic
Select item 511550	NM_000527.5(LDLR):c.330C>G (p.Ser110=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 237872	NM_000527.5(LDLR):c.337G>A (p.Glu113Lys)	LDLR (E113K +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 226320	NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)	LDLR (E113* +1 more)	Single nucleotide variant (nonsense +1 more)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic/Likely pathogenic
Select item 251162	NM_000527.5(LDLR):c.343C>T (p.Arg115Cys)	LDLR (R115C +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 225402	NM_000527.5(LDLR):c.344G>A (p.Arg115His)	LDLR (R115H +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 251181	NM_000527.5(LDLR):c.367T>C (p.Ser123Pro)	LDLR (S123P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 226321	NM_000527.5(LDLR):c.373C>A (p.Gln125Lys)	LDLR (Q125K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1327845	NM_000527.5(LDLR):c.379G>A (p.Val127Ile)	LDLR (V127I +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 226322	NM_000527.5(LDLR):c.400T>C (p.Cys134Arg)	LDLR (C134R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 251204	NM_000527.5(LDLR):c.401G>T (p.Cys134Phe)	LDLR (C134F +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +2 more	GPathogenic/Likely pathogenic
Select item 251203	NM_000527.5(LDLR):c.401G>A (p.Cys134Tyr)	LDLR (C134Y +1 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +3 more	GPathogenic/Likely pathogenic
Select item 440569	NM_000527.5(LDLR):c.408C>T (p.Asp136=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, familial, 1 +3 more	GLikely benign
Select item 183087	NM_000527.5(LDLR):c.409G>A (p.Gly137Ser)	LDLR (G137S +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +3 more	GConflicting classifications of pathogenicity
Select item 251216	NM_000527.5(LDLR):c.420G>C (p.Glu140Asp)	LDLR (E140D +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +4 more	GPathogenic/Likely pathogenic
Select item 523723	NM_000527.5(LDLR):c.428G>T (p.Cys143Phe)	LDLR (C143F +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GLikely pathogenic
Select item 440572	NM_000527.5(LDLR):c.431C>T (p.Pro144Leu)	LDLR (P144L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 251234	NM_000527.5(LDLR):c.451G>C (p.Ala151Pro)	LDLR (A151P +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 426401	NM_000527.5(LDLR):c.460del (p.Gln154fs)	LDLR (Q113fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 251239	NM_000527.5(LDLR):c.463T>G (p.Cys155Gly)	LDLR (C155G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 369873	NM_000527.5(LDLR):c.467del (p.Asn156fs)	LDLR (N115fs +1 more)	Deletion (frameshift variant +1 more)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic/Likely pathogenic
Select item 251247	NM_000527.5(LDLR):c.478T>C (p.Cys160Arg)	LDLR (C160R +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 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)	Homozygous familial hypercholesterolemia +4 more	GPathogenic/Likely pathogenic
Select item 251261	NM_000527.5(LDLR):c.504C>A (p.Asp168Glu)	LDLR (D168E +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +2 more	GConflicting classifications of pathogenicity
Select item 36464	NM_000527.5(LDLR):c.507C>T (p.Asn169=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, familial, 1 +4 more	GConflicting classifications of pathogenicity
Select item 251264	NM_000527.5(LDLR):c.513del (p.Asp172fs)	LDLR (D131fs +1 more)	Deletion (frameshift variant +1 more)	Familial hypercholesterolemia +3 more	GPathogenic
Select item 251277	NM_000527.5(LDLR):c.519C>G (p.Cys173Trp)	LDLR (C173W +1 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +3 more	GPathogenic/Likely pathogenic
Select item 3726	NM_000527.5(LDLR):c.523G>A (p.Asp175Asn)	LDLR (D175N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 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 183089	NM_000527.5(LDLR):c.542C>G (p.Pro181Arg)	LDLR (P181R +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic 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 251308	NM_000527.5(LDLR):c.589T>G (p.Cys197Gly)	LDLR (C197G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 251317	NM_000527.5(LDLR):c.601G>A (p.Glu201Lys)	LDLR (E201K +1 more)	Single nucleotide variant (intron variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GLikely pathogenic
Select item 3747	NM_000527.5(LDLR):c.621C>T (p.Gly207=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic/Likely pathogenic
Select item 251328	NM_000527.5(LDLR):c.622G>A (p.Glu208Lys)	LDLR (E208K +1 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +5 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)	Familial hypercholesterolemia +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 68100	NM_000527.5(LDLR):c.653del (p.Gly218fs)	LDLR (G218fs +1 more)	Deletion (frameshift variant +1 more)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic/Likely pathogenic
Select item 226330	NM_000527.5(LDLR):c.660del (p.Asp221fs)	LDLR (D180fs +1 more)	Deletion (frameshift variant +1 more)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic
Select item 3343213	NM_000527.5(LDLR):c.658C>G (p.Pro220Ala)	LDLR (P179A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 251358	NM_000527.5(LDLR):c.663_683dup (p.Asp221_Asp227dup)	LDLR	Duplication (inframe_insertion +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
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 251364	NM_000527.5(LDLR):c.666C>A (p.Cys222Ter)	LDLR (C222* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial hypercholesterolemia +2 more	GPathogenic
Select item 422951	NM_000527.5(LDLR):c.680_682delinsCGGTATGGACTGCA (p.Asp227fs)	LDLR (D186fs +1 more)	Indel (frameshift variant +1 more)	Cardiovascular phenotype +2 more	GPathogenic

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