C0020445[trait identifier] AND "LDLR-LOVD, British Heart Foundation"[s - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 250925	NM_000527.4(LDLR):c.-268G>T	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia +1 more	GBenign/Likely benign
Select item 250927	NM_000527.4(LDLR):c.-217C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia +2 more	GConflicting classifications of pathogenicity
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 250942	NM_000527.4(LDLR):c.-156C>T	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 250944	NM_000527.4(LDLR):c.-153C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia +2 more	GConflicting classifications of pathogenicity
Select item 250945	NM_000527.4(LDLR):c.-152C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Cardiovascular phenotype +2 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 250951	NM_000527.4(LDLR):c.-139C>G	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia +1 more	GConflicting classifications of pathogenicity
Select item 3745	NM_000527.4(LDLR):c.-138del	LDLR, LDLR-AS1	Deletion (non-coding transcript variant)	Familial hypercholesterolemia +1 more	GConflicting classifications of pathogenicity
Select item 250953	NR_163945.1(LDLR-AS1):n.248G>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 250955	NM_000527.4(LDLR):c.-136C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 250954	NM_000527.4(LDLR):c.-136C>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 250956	NM_000527.4(LDLR):c.-135C>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 226302	NM_000527.5(LDLR):c.-121T>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 250957	NM_000527.4(LDLR):c.-101T>C	LDLR-AS1, LDLR	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 250958	NM_000527.4(LDLR):c.-88G>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Familial hypercholesterolemia +1 more	GConflicting classifications of pathogenicity
Select item 250961	NM_000527.5(LDLR):c.-23A>C	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia +2 more	GUncertain significance
Select item 250963	NM_000527.5(LDLR):c.-14C>A	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Familial hypercholesterolemia +1 more	GUncertain significance
Select item 250964	NM_000527.5(LDLR):c.-13A>G	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	LDLR-related condition +2 more	GBenign/Likely benign
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 250967	NM_000527.5(LDLR):c.1A>G (p.Met1Val)	LDLR, LDLR-AS1 (M1V)	Single nucleotide variant (non-coding transcript variant +2 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic 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 250971	NM_000527.5(LDLR):c.4G>C (p.Gly2Arg)	LDLR, LDLR-AS1 (G2R)	Single nucleotide variant (non-coding transcript variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 250973	NM_000527.5(LDLR):c.11G>A (p.Trp4Ter)	LDLR-AS1, LDLR (W4*)	Single nucleotide variant (nonsense +1 more)	not provided +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 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 250983	NM_000527.5(LDLR):c.48C>A (p.Leu16=)	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 250985	NM_000527.5(LDLR):c.56C>T (p.Ala19Val)	LDLR-AS1, LDLR (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 250988	NM_000527.5(LDLR):c.67+2015G>T	LDLR, LOC126862855	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1 +1 more	GBenign
Select item 251005	NM_000527.5(LDLR):c.68-1G>C	LDLR	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype +3 more	GPathogenic
Select item 251010	NM_000527.5(LDLR):c.81C>T (p.Cys27=)	LDLR	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 251009	NM_000527.5(LDLR):c.81C>A (p.Cys27Ter)	LDLR (C27*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GPathogenic
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 251012	NM_000527.5(LDLR):c.90C>T (p.Asn30=)	LDLR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 251014	NM_000527.5(LDLR):c.91G>T (p.Glu31Ter)	LDLR (E31*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GPathogenic
Select item 251013	NM_000527.5(LDLR):c.91G>A (p.Glu31Lys)	LDLR (E31K)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +2 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 251018	NM_000527.5(LDLR):c.100T>G (p.Cys34Gly)	LDLR (C34G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 251021	NM_000527.5(LDLR):c.103C>T (p.Gln35Ter)	LDLR (Q35*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1 +1 more	GPathogenic
Select item 251022	NM_000527.5(LDLR):c.108C>A (p.Asp36Glu)	LDLR (D36E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 251028	NM_000527.5(LDLR):c.126C>A (p.Tyr42Ter)	LDLR (Y42*)	Single nucleotide variant (nonsense)	Homozygous familial hypercholesterolemia +2 more	GPathogenic
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 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 251037	NM_000527.5(LDLR):c.148G>A (p.Ala50Thr)	LDLR (A50T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
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 251039	NM_000527.5(LDLR):c.157C>T (p.Gln53Ter)	LDLR (Q53*)	Single nucleotide variant (nonsense)	Familial hypercholesterolemia +1 more	GPathogenic
Select item 237864	NM_000527.5(LDLR):c.166T>C (p.Ser56Pro)	LDLR (S56P)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +1 more	GPathogenic/Likely pathogenic
Select item 251041	NM_000527.5(LDLR):c.168TGA[1] (p.Asp57del)	LDLR (D57del)	Microsatellite (inframe_deletion)	Familial hypercholesterolemia +1 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 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 251048	NM_000527.5(LDLR):c.190+1G>A	LDLR	Single nucleotide variant (splice donor variant)	Familial hypercholesterolemia +2 more	GPathogenic/Likely pathogenic
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 226306	NM_000527.5(LDLR):c.191-2A>G	LDLR	Single nucleotide variant (splice acceptor variant +1 more)	Familial hypercholesterolemia +2 more	GPathogenic/Likely pathogenic
Select item 251071	NM_000527.5(LDLR):c.191-1G>A	LDLR	Single nucleotide variant (splice acceptor variant +1 more)	Familial hypercholesterolemia +2 more	GPathogenic/Likely pathogenic
Select item 251074	NM_000527.5(LDLR):c.195_196insAT (p.Val66fs)	LDLR (V66fs)	Insertion (frameshift variant +1 more)	Familial hypercholesterolemia +2 more	GPathogenic
Select item 226307	NM_000527.5(LDLR):c.196_197del (p.Val66fs)	LDLR (V66fs)	Deletion (frameshift variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GPathogenic
Select item 251077	NM_000527.5(LDLR):c.204C>A (p.Cys68Ter)	LDLR (C68*)	Single nucleotide variant (nonsense +1 more)	Homozygous familial hypercholesterolemia +2 more	GPathogenic/Likely pathogenic
Select item 251078	NM_000527.5(LDLR):c.214del (p.Asp72fs)	LDLR (D72fs)	Deletion (frameshift variant +1 more)	Homozygous 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 +1 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 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 251085	NM_000527.5(LDLR):c.233G>A (p.Arg78His)	LDLR (R78H)	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 251091	NM_000527.5(LDLR):c.244T>G (p.Cys82Gly)	LDLR (C82G)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +1 more	GPathogenic/Likely pathogenic
Select item 251093	NM_000527.5(LDLR):c.245G>T (p.Cys82Phe)	LDLR (C82F)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +1 more	GPathogenic/Likely pathogenic
Select item 251095	NM_000527.5(LDLR):c.251C>G (p.Pro84Arg)	LDLR (P84R)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 226310	NM_000527.5(LDLR):c.251C>T (p.Pro84Leu)	LDLR (P84L)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
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 251099	NM_000527.5(LDLR):c.261_262delinsAG (p.Trp87_Arg88delinsTer)	LDLR	Indel (nonsense +1 more)	Hypercholesterolemia, familial, 1 +1 more	GPathogenic
Select item 226312	NM_000527.5(LDLR):c.266G>A (p.Cys89Tyr)	LDLR (C89Y)	Single nucleotide variant (missense variant +1 more)	Homozygous familial hypercholesterolemia +2 more	GPathogenic/Likely pathogenic
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 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 251107	NM_000527.5(LDLR):c.270T>A (p.Asp90Glu)	LDLR (D90E)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 251109	NM_000527.5(LDLR):c.280G>T (p.Asp94Tyr)	LDLR (D94Y)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GLikely pathogenic
Select item 251112	NM_000527.5(LDLR):c.283T>G (p.Cys95Gly)	LDLR (C95G)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +1 more	GConflicting classifications of pathogenicity
Select item 251114	NM_000527.5(LDLR):c.284G>T (p.Cys95Phe)	LDLR (C95F)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +2 more	GPathogenic/Likely pathogenic
Select item 251113	NM_000527.5(LDLR):c.284G>A (p.Cys95Tyr)	LDLR (C95Y)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1 +1 more	GConflicting classifications of pathogenicity
Select item 251117	NM_000527.5(LDLR):c.291C>T (p.Asn97=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 251118	NM_000527.5(LDLR):c.292G>A (p.Gly98Ser)	LDLR (G98S)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +3 more	GConflicting classifications of pathogenicity
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 251121	NM_000527.5(LDLR):c.298G>A (p.Asp100Asn)	LDLR (D100N)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic FDA Recognized database
Select item 251123	NM_000527.5(LDLR):c.300C>T (p.Asp100=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
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 251126	NM_000527.5(LDLR):c.303del (p.Glu101fs)	LDLR (E101fs)	Deletion (frameshift variant +1 more)	Homozygous familial hypercholesterolemia +2 more	GPathogenic
Select item 226314	NM_000527.5(LDLR):c.304C>T (p.Gln102Ter)	LDLR (Q102*)	Single nucleotide variant (nonsense +1 more)	Familial hypercholesterolemia +3 more	GPathogenic
Select item 251127	NM_000527.5(LDLR):c.305A>C (p.Gln102Pro)	LDLR (Q102P)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 251129	NM_000527.5(LDLR):c.310T>C (p.Cys104Arg)	LDLR (C104R)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia +1 more	GPathogenic/Likely pathogenic
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 251132	NM_000527.5(LDLR):c.313C>T (p.Pro105Ser)	LDLR (P105S)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +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)	Hypercholesterolemia, familial, 1 +5 more	GConflicting classifications of pathogenicity
Select item 226317	NM_000527.5(LDLR):c.313+2dup	LDLR	Duplication (splice donor variant +1 more)	Familial hypercholesterolemia +2 more	GPathogenic/Likely pathogenic
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 251137	NM_000527.5(LDLR):c.313+5G>T	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia +1 more	GLikely pathogenic

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