LDLR[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 651247	NC_000019.10:g.(?_11100203)_(11107534_?)del	LDLR	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 456644	NC_000019.9:g.(?_11210879)_(11222335_?)dup	LDLR	Duplication	Familial hypercholesterolemia +1 more	GPathogenic
Select item 456642	NC_000019.10:g.(?_11100203)_(11102806_?)del	LDLR	Deletion	Familial hypercholesterolemia +1 more	GPathogenic
Select item 663429	NC_000019.10:g.(?_11100213)_(11102796_?)del	LDLR	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 650699	NC_000019.10:g.(?_11100213)_(11107528_?)del	LDLR	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 250991	NM_000527.5(LDLR):c.68-5_68-2del	LDLR	Deletion (splice acceptor variant)	Hypercholesterolemia, familial, 1	GLikely 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 250992	NM_000527.5(LDLR):c.68-2A>G	LDLR	Single nucleotide variant (splice acceptor variant)	Hypercholesterolemia, familial, 1	GPathogenic/Likely pathogenic
Select item 548101	GRCh38/hg38 19p13.2(chr19:11100222-11102787)x1	LDLR	Copy number loss	Hypercholesterolemia, familial, 1	GPathogenic
Select item 548093	GRCh38/hg38 19p13.2(chr19:11100222-11107515)x1	LDLR	Copy number loss	Hypercholesterolemia, familial, 1	GPathogenic
Select item 369858	NM_000527.5(LDLR):c.68-1G>A	LDLR	Single nucleotide variant (splice acceptor variant)	Familial hypercholesterolemia +1 more	GPathogenic/Likely pathogenic
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 440539	NM_000527.5(LDLR):c.70_192del (p.Gly24_Leu64del)	LDLR	Deletion (inframe_deletion +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251008	NM_000527.5(LDLR):c.77_78del (p.Arg26fs)	LDLR (R26fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251007	NM_000527.5(LDLR):c.76del (p.Arg26fs)	LDLR (R26fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251006	NM_000527.5(LDLR):c.76A>T (p.Arg26Ter)	LDLR (R26*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 921285	NM_000527.5(LDLR):c.79_81delinsCGT (p.Cys27Arg)	LDLR (C27R)	Indel (missense variant)	Familial hypercholesterolemia	GLikely pathogenic
Select item 440540	NM_000527.5(LDLR):c.79T>C (p.Cys27Arg)	LDLR (C27R)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia	GLikely pathogenic
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 226305	NM_000527.5(LDLR):c.82G>T (p.Glu28Ter)	LDLR (E28*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic/Likely pathogenic
Select item 251011	NM_000527.5(LDLR):c.85A>T (p.Arg29Ter)	LDLR (R29*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 2773491	NM_000527.5(LDLR):c.86del (p.Arg29fs)	LDLR (R115fs +1 more)	Deletion (frameshift variant)	Familial hypercholesterolemia	GPathogenic
Select item 440541	NM_000527.5(LDLR):c.90_91insTGTGTTT (p.Glu31delinsCysValTer)	LDLR	Insertion (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 441176	NM_000527.5(LDLR):c.91_104del (p.Glu31fs)	LDLR (E31fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
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 251015	NM_000527.5(LDLR):c.93_99del (p.Glu31fs)	LDLR (E31fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251016	NM_000527.5(LDLR):c.95T>G (p.Phe32Cys)	LDLR (F32C)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 1455072	NM_000527.5(LDLR):c.97_115del (p.Gln33fs)	LDLR (Q33fs)	Deletion (frameshift variant)	Familial hypercholesterolemia	GPathogenic
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 251017	NM_000527.5(LDLR):c.99del (p.Gln33fs)	LDLR (Q33fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
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 251019	NM_000527.5(LDLR):c.101G>C (p.Cys34Ser)	LDLR (C34S)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 1321217	NM_000527.5(LDLR):c.103del (p.Gln35fs)	LDLR (Q35fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1120248	NM_000527.5(LDLR):c.102C>G (p.Cys34Trp)	LDLR (C34W)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 251020	NM_000527.5(LDLR):c.102C>A (p.Cys34Ter)	LDLR (C34*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic
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 438316	NM_000527.5(LDLR):c.105_110del (p.Asp36_Gly37del)	LDLR	Deletion (inframe_deletion)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 1685923	NM_000527.5(LDLR):c.106G>T (p.Asp36Tyr)	LDLR (D36Y)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1455835	NM_000527.5(LDLR):c.108_109insT (p.Gly37fs)	LDLR (G37fs)	Insertion (frameshift variant)	Familial hypercholesterolemia	GPathogenic
Select item 251023	NM_000527.5(LDLR):c.108del (p.Asp36fs)	LDLR (D36fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251024	NM_000527.5(LDLR):c.114dup (p.Cys39fs)	LDLR (C39fs)	Duplication (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1454897	NM_000527.5(LDLR):c.116dup (p.Cys39fs)	LDLR (C39fs)	Duplication (frameshift variant)	Familial hypercholesterolemia	GPathogenic
Select item 430746	NM_000527.5(LDLR):c.116G>T (p.Cys39Phe)	LDLR (C39F)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251025	NM_000527.5(LDLR):c.116_117delinsAA (p.Cys39Ter)	LDLR (C39*)	Indel (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic
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 251026	NM_000527.5(LDLR):c.117del (p.Lys38_Cys39insTer)	LDLR	Deletion (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251027	NM_000527.5(LDLR):c.118del (p.Ile40fs)	LDLR (I40fs)	Deletion (frameshift variant)	Homozygous familial hypercholesterolemia +1 more	GPathogenic
Select item 375774	NM_000527.5(LDLR):c.126C>G (p.Tyr42Ter)	LDLR (Y42*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251028	NM_000527.5(LDLR):c.126C>A (p.Tyr42Ter)	LDLR (Y42*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1 +2 more	GPathogenic
Select item 251029	NM_000527.5(LDLR):c.132_133dup (p.Val45fs)	LDLR (V45fs)	Duplication (frameshift variant)	Hypercholesterolemia, familial, 1	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 440545	NM_000527.5(LDLR):c.132G>A (p.Trp44Ter)	LDLR (W44*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GPathogenic
Select item 1770817	NM_000527.5(LDLR):c.136_142del (p.Cys46fs)	LDLR (C46fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 251030	NM_000527.5(LDLR):c.136T>G (p.Cys46Gly)	LDLR (C46G)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic/Likely pathogenic
Select item 251033	NM_000527.5(LDLR):c.139_144del (p.Asp47_Gly48del)	LDLR	Deletion (inframe_deletion)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 251031	NM_000527.5(LDLR):c.137G>A (p.Cys46Tyr)	LDLR (C46Y)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 3742	NM_000527.5(LDLR):c.137G>C (p.Cys46Ser)	LDLR (C46S)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 251032	NM_000527.5(LDLR):c.138C>A (p.Cys46Ter)	LDLR (C46*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 441179	NM_000527.5(LDLR):c.140_153del (p.Asp47fs)	LDLR (D47fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251036	NM_000527.5(LDLR):c.148del (p.Ala50fs)	LDLR (A50fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251038	NM_000527.5(LDLR):c.155G>A (p.Cys52Tyr)	LDLR (C52Y)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic/Likely pathogenic
Select item 2700653	NM_000527.5(LDLR):c.156C>A (p.Cys52Ter)	LDLR (C52* +1 more)	Single nucleotide variant (nonsense)	Familial hypercholesterolemia	GPathogenic
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)	Hypercholesterolemia, familial, 1 +1 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 251043	NM_000527.5(LDLR):c.172G>A (p.Glu58Lys)	LDLR (E58K)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 251042	NM_000527.5(LDLR):c.172del (p.Glu58fs)	LDLR (E58fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251044	NM_000527.5(LDLR):c.173A>G (p.Glu58Gly)	LDLR (E58G)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 430747	NM_000527.5(LDLR):c.178del (p.Gln60fs)	LDLR (Q60fs)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 200924	NM_000527.5(LDLR):c.178C>T (p.Gln60Ter)	LDLR (Q60*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 1220548	NM_000527.5(LDLR):c.181G>T (p.Glu61Ter)	LDLR (E61*)	Single nucleotide variant (nonsense)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251045	NM_000527.5(LDLR):c.185_186insT (p.Cys63fs)	LDLR (C63fs)	Insertion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251046	NM_000527.5(LDLR):c.187T>C (p.Cys63Arg)	LDLR (C63R)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic/Likely pathogenic
Select item 440548	NM_000527.5(LDLR):c.188G>T (p.Cys63Phe)	LDLR (C63F)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251050	NM_000527.4(LDLR):c.190+2_190+3dup	LDLR	Microsatellite	Hypercholesterolemia, familial, 1	GPathogenic/Likely pathogenic
Select item 1520258	NM_000527.5(LDLR):c.190+2_190+3del	LDLR	Microsatellite (splice donor variant)	Familial hypercholesterolemia	GLikely pathogenic
Select item 251049	NM_000527.5(LDLR):c.190+1G>T	LDLR	Single nucleotide variant (splice donor variant)	Hypercholesterolemia, familial, 1 +1 more	GPathogenic/Likely pathogenic
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 3713	FH Vancouver 3	LDLR	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251051	NM_000527.5(LDLR):c.190+2T>G	LDLR	Single nucleotide variant (splice donor variant)	Hypercholesterolemia, familial, 1 +1 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 2453917	NM_000527.5(LDLR):c.190+5G>C	LDLR	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GPathogenic
Select item 430748	NM_000527.5(LDLR):c.190+5G>A	LDLR	Single nucleotide variant (intron variant)	Cardiovascular phenotype +1 more	GLikely pathogenic
Select item 948222	NM_000527.5(LDLR):c.191-732_740del	LDLR	Deletion (splice acceptor variant +1 more)	Familial hypercholesterolemia	GPathogenic
Select item 251055	NM_000527.5(LDLR):c.191-512_940+631del	LDLR	Deletion (splice acceptor variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 584079	NC_000019.10:g.(?_11102644)_(11107534_?)del	LDLR	Deletion	Hypercholesterolemia, familial, 1 +1 more	GPathogenic
Select item 251057	NM_000527.5(LDLR):c.191-2delinsCT	LDLR	Indel (splice acceptor variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic/Likely pathogenic
Select item 226306	NM_000527.5(LDLR):c.191-2A>G	LDLR	Single nucleotide variant (splice acceptor variant +1 more)	Hypercholesterolemia, familial, 1 +2 more	GPathogenic/Likely pathogenic
Select item 548100	GRCh38/hg38 19p13.2(chr19:11102663-11107515)x1	LDLR	Copy number loss	Hypercholesterolemia, familial, 1	GPathogenic
Select item 440550	NM_000527.5(LDLR):c.191-1G>T	LDLR	Single nucleotide variant (splice acceptor variant +1 more)	Familial hypercholesterolemia	GPathogenic
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 375776	NM_000527.5(LDLR):c.191T>A (p.Leu64Ter)	LDLR (L64*)	Single nucleotide variant (nonsense +1 more)	Familial hypercholesterolemia +1 more	GPathogenic
Select item 1782873	NM_000527.5(LDLR):c.193_202delinsGGACTTCA (p.Ser65fs)	LDLR (S65fs)	Indel (frameshift variant +1 more)	Cardiovascular phenotype	GPathogenic
Select item 251072	NM_000527.5(LDLR):c.193_201delinsGACTTCA (p.Ser65fs)	LDLR (S65fs)	Indel (frameshift variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 251075	NM_000527.5(LDLR):c.195dup (p.Val66fs)	LDLR (V66fs)	Duplication (frameshift variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic
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 251073	NM_000527.5(LDLR):c.195_196insA (p.Val66fs)	LDLR (V66fs)	Insertion (frameshift variant +1 more)	Hypercholesterolemia, familial, 1	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 251076	NM_000527.5(LDLR):c.199dup (p.Thr67fs)	LDLR (T67fs)	Duplication (frameshift variant +1 more)	Hypercholesterolemia, familial, 1	GPathogenic

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