C0745103[trait identifier] AND "Molecular Genetics Laboratory, Centre - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 250924	NM_000527.4(LDLR):c.-1823_190+566del	LOC126862856, LDLR +2 more	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 250944	NM_000527.4(LDLR):c.-153C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 250946	NM_000527.4(LDLR):c.-149C>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 403628	NM_000527.4(LDLR):c.-140C>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 226299	NM_000527.4(LDLR):c.-120C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 250969	NM_000527.5(LDLR):c.3G>T (p.Met1Ile)	LDLR, LDLR-AS1 (M1I)	Single nucleotide variant (non-coding transcript variant +2 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
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 250989	NM_000527.4(LDLR):c.67+3968_940+296dup	LDLR, LOC126862856	Duplication	Hypercholesterolemia, familial, 1	GPathogenic/Likely pathogenic
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 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 251018	NM_000527.5(LDLR):c.100T>G (p.Cys34Gly)	LDLR (C34G)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +2 more	GPathogenic/Likely 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 68099	NM_000527.5(LDLR):c.148G>T (p.Ala50Ser)	LDLR (A50S)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +6 more	GConflicting classifications of pathogenicity
Select item 251039	NM_000527.5(LDLR):c.157C>T (p.Gln53Ter)	LDLR (Q53*)	Single nucleotide variant (nonsense)	Familial hypercholesterolemia +1 more	GPathogenic
Select item 251054	NM_000527.4(LDLR):c.190+984_1846-1160del	LDLR, MIR6886	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
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 251106	NM_000527.5(LDLR):c.268G>T (p.Asp90Tyr)	LDLR (D90Y)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 403629	NM_000527.5(LDLR):c.300C>A (p.Asp100Glu)	LDLR (D100E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 226315	NM_000527.5(LDLR):c.311G>A (p.Cys104Tyr)	LDLR (C104Y)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GPathogenic/Likely pathogenic
Select item 251140	NM_000527.5(LDLR):c.314-446_1187-386dup	LDLR	Duplication (splice acceptor variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic/Likely pathogenic
Select item 251150	NM_000527.5(LDLR):c.318dup (p.Lys107fs)	LDLR (K107fs +1 more)	Duplication (frameshift variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251156	NM_000527.5(LDLR):c.325T>C (p.Cys109Arg)	LDLR (C109R +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +3 more	GConflicting classifications of pathogenicity
Select item 251165	NM_000527.5(LDLR):c.347_367del (p.Cys116_Ile122del)	LDLR	Deletion (inframe_deletion +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 251182	NM_000527.5(LDLR):c.369_370del (p.Arg124fs)	LDLR (R83fs +1 more)	Microsatellite (frameshift variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 403630	NM_000527.5(LDLR):c.383G>C (p.Cys128Ser)	LDLR (C128S +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 251197	NM_000527.5(LDLR):c.388T>C (p.Ser130Pro)	LDLR (S130P +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GConflicting classifications of pathogenicity
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)	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 251224	NM_000527.5(LDLR):c.442T>C (p.Cys148Arg)	LDLR (C148R +1 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +1 more	GPathogenic/Likely pathogenic
Select item 251229	NM_000527.5(LDLR):c.445G>T (p.Gly149Cys)	LDLR (G149C +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 251244	NM_000527.5(LDLR):c.472del (p.Ser158fs)	LDLR (S158fs +1 more)	Deletion (frameshift variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
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 403662	NM_000527.5(LDLR):c.510C>A (p.Asp170Glu)	LDLR (D170E +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GConflicting classifications of pathogenicity
Select item 251269	NM_000527.5(LDLR):c.515A>G (p.Asp172Gly)	LDLR (D172G +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GLikely pathogenic
Select item 251281	NM_000527.5(LDLR):c.527G>T (p.Gly176Val)	LDLR (G176V +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 403631	NM_000527.5(LDLR):c.529T>C (p.Ser177Pro)	LDLR (S177P +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely 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)	Familial hypercholesterolemia +4 more	GConflicting classifications of pathogenicity
Select item 251304	NM_000527.5(LDLR):c.578del (p.Asp193fs)	LDLR (D152fs +1 more)	Deletion (frameshift variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251322	NM_000527.5(LDLR):c.611G>T (p.Cys204Phe)	LDLR (C204F +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GLikely pathogenic
Select item 251331	NM_000527.5(LDLR):c.625_626dup (p.Ile210fs)	LDLR (I210fs +1 more)	Duplication (frameshift variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251332	NM_000527.5(LDLR):c.626G>A (p.Cys209Tyr)	LDLR (C209Y +1 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +1 more	GPathogenic/Likely pathogenic
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 251384	NM_000527.5(LDLR):c.676T>C (p.Ser226Pro)	LDLR (S226P +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic/Likely pathogenic
Select item 403633	NM_000527.5(LDLR):c.683_694del (p.Glu228_Cys231del)	LDLR	Deletion (inframe_deletion +1 more)	Cardiovascular phenotype +2 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 251393	NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)	LDLR (E228Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +3 more	GPathogenic/Likely pathogenic
Select item 3691	NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)	LDLR (E228K +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 251397	NM_000527.5(LDLR):c.691T>G (p.Cys231Gly)	LDLR (C231G +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +2 more	GPathogenic/Likely pathogenic
Select item 3730	NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)	LDLR (C231* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial hypercholesterolemia +2 more	GPathogenic/Likely pathogenic
Select item 251409	NM_000527.5(LDLR):c.695-67_1586+371del	LDLR, MIR6886	Deletion (splice acceptor variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
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 251463	NM_000527.5(LDLR):c.808T>C (p.Cys270Arg)	LDLR (C270R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 251468	NM_000527.5(LDLR):c.815A>C (p.Asn272Thr)	LDLR (N272T +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +2 more	GUncertain significance
Select item 251469	NM_000527.5(LDLR):c.817+1G>A	LDLR	Single nucleotide variant (splice donor variant +1 more)	Familial hypercholesterolemia +1 more	GPathogenic/Likely pathogenic
Select item 189298	NM_000527.5(LDLR):c.828C>A (p.Cys276Ter)	LDLR (C276* +3 more)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 183097	NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)	LDLR (E277K +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 183098	NM_000527.5(LDLR):c.846C>A (p.Phe282Leu)	LDLR (F282L +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic 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 251490	NM_000527.5(LDLR):c.862G>T (p.Glu288Ter)	LDLR (E288* +3 more)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251499	NM_000527.5(LDLR):c.881_882del (p.Lys294fs)	LDLR (K253fs +3 more)	Deletion (frameshift variant)	Familial hypercholesterolemia +3 more	GPathogenic
Select item 251509	NM_000527.5(LDLR):c.896del (p.Ala299fs)	LDLR (A131fs +3 more)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
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 251524	NM_000527.5(LDLR):c.917C>G (p.Ser306Ter)	LDLR (S306* +3 more)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251525	NM_000527.5(LDLR):c.919G>A (p.Asp307Asn)	LDLR (D307N +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GConflicting classifications of pathogenicity
Select item 375803	NM_000527.5(LDLR):c.940_940+14del	LDLR	Deletion (splice donor variant)	Familial hypercholesterolemia +1 more	GPathogenic
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 251542	NM_000527.5(LDLR):c.940+1G>C	LDLR	Single nucleotide variant (splice donor variant)	Hypercholesterolemia, familial, 1	GPathogenic/Likely pathogenic
Select item 251566	NM_000527.5(LDLR):c.947A>C (p.Asn316Thr)	LDLR (N316T +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GConflicting classifications of pathogenicity
Select item 251568	NM_000527.5(LDLR):c.949G>T (p.Glu317Ter)	LDLR (E317* +3 more)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251572	NM_000527.5(LDLR):c.953G>T (p.Cys318Phe)	LDLR (C318F +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 251579	NM_000527.5(LDLR):c.971del (p.Gly324fs)	LDLR (G156fs +3 more)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251581	NM_000527.5(LDLR):c.977C>G (p.Ser326Cys)	LDLR (S326C +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 403665	NM_000527.5(LDLR):c.981C>A (p.His327Gln)	LDLR (H327Q +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 226344	NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr)	LDLR (C329Y +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +3 more	GConflicting classifications of pathogenicity
Select item 251595	NM_000527.5(LDLR):c.1013G>A (p.Cys338Tyr)	LDLR (C338Y +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 251600	NM_000527.5(LDLR):c.1019G>A (p.Cys340Tyr)	LDLR (C340Y +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +3 more	GConflicting classifications of pathogenicity
Select item 251603	NM_000527.5(LDLR):c.1024G>T (p.Asp342Tyr)	LDLR (D342Y +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 251615	NM_000527.5(LDLR):c.1053_1060dup (p.Ile355fs)	LDLR (I228fs +3 more)	Duplication (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
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 36450	NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr)	LDLR (C352Y +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 251639	NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly)	LDLR (D354G +3 more)	Single nucleotide variant (missense variant)	Homozygous familial hypercholesterolemia +4 more	GConflicting classifications of pathogenicity
Select item 251638	NM_000527.5(LDLR):c.1061A>C (p.Asp354Ala)	LDLR (D354A +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 403634	NM_000527.5(LDLR):c.1065C>G (p.Ile355Met)	LDLR (I355M +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 251644	NM_000527.5(LDLR):c.1066G>C (p.Asp356His)	LDLR (D356H +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GConflicting classifications of pathogenicity
Select item 251655	NM_000527.5(LDLR):c.1085del (p.Asp362fs)	LDLR (D194fs +3 more)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 369852	NM_000527.5(LDLR):c.1091G>A (p.Cys364Tyr)	LDLR (C364Y +3 more)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GPathogenic/Likely pathogenic
Select item 251658	NM_000527.5(LDLR):c.1091G>C (p.Cys364Ser)	LDLR (C364S +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 403635	NM_000527.5(LDLR):c.1112T>C (p.Leu371Pro)	LDLR (L371P +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1 +1 more	GUncertain significance
Select item 251672	NM_000527.5(LDLR):c.1117G>T (p.Gly373Cys)	LDLR (G373C +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 183108	NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro)	LDLR (Q378P +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 251689	NM_000527.5(LDLR):c.1151_1159del (p.Gln384_Asp386del)	LDLR	Deletion (inframe_deletion)	Hypercholesterolemia, familial, 1	GLikely pathogenic

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