ClinVar for Gene (Select 3949) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366495	NC_000019.9:g.(11227675_11230767)_(11231199_11233849)del	LDLR	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 3366329	NM_000527.5(LDLR):c.393C>A (p.Asp131Glu)	LDLR (D131E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3361915	NM_000527.5(LDLR):c.2057A>G (p.Gln686Arg)	LDLR (Q518R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360686	NM_000527.5(LDLR):c.68-1G>T	LDLR	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 3359096	NM_000527.5(LDLR):c.626G>T (p.Cys209Phe)	LDLR (C168F +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 3353360	NM_000527.5(LDLR):c.1480G>A (p.Val494Ile)	LDLR (V326I +3 more)	Single nucleotide variant (missense variant)	LDLR-related disorder	GUncertain significance
Select item 3351912	NM_000527.5(LDLR):c.2140+95G>A	LDLR	Single nucleotide variant (intron variant)	LDLR-related disorder	GLikely benign
Select item 3343857	NM_000527.5(LDLR):c.1343A>G (p.Gln448Arg)	LDLR (Q280R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 3341162	NC_000019.10:g.(11089616_11100222)_(11107515_11110651)del	LDLR, LDLR-AS1 +2 more	Deletion	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 3340100	NM_000527.5(LDLR):c.313_313+1delinsTC	LDLR (R191S)	Indel (missense variant +2 more)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 3340081	NM_000527.5(LDLR):c.938G>C (p.Cys313Ser)	LDLR (C145S +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3340080	NM_000527.5(LDLR):c.996_998delinsG (p.Lys333fs)	LDLR (K165fs +3 more)	Indel (frameshift variant)	Familial hypercholesterolemia	GPathogenic
Select item 3339312	NM_000527.5(LDLR):c.2311+3A>T	LDLR	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3339147	NM_000527.5(LDLR):c.2141-218G>A	LDLR	Single nucleotide variant (intron variant)	Familial hypercholesterolemia	GLikely pathogenic
Select item 3336487	NM_000527.5(LDLR):c.749A>G (p.His250Arg)	LDLR (H123R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290404	NM_000527.5(LDLR):c.418_421delinsTCAGACCGGGACTGCTTGGACT (p.Glu140_Ala141delinsSerAspArgAspCysLeuAspSer)	LDLR	Indel (inframe_indel +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3290403	NM_000527.5(LDLR):c.1835C>A (p.Ala612Asp)	LDLR (A571D +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3290402	NM_000527.5(LDLR):c.338_343delinsT (p.Glu113fs)	LDLR (E72fs +1 more)	Indel (frameshift variant +1 more)	Cardiovascular phenotype	GPathogenic
Select item 3290399	NM_000527.5(LDLR):c.818-20C>T	LDLR	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GLikely benign
Select item 3290398	NM_000527.5(LDLR):c.1586+23dup	LDLR	Duplication (intron variant)	Cardiovascular phenotype	GLikely benign
Select item 3290397	NM_000527.5(LDLR):c.1978C>G (p.Gln660Glu)	LDLR (Q533E +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3290396	NM_000527.5(LDLR):c.2559C>T (p.Val853=)	LDLR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3290395	NM_000527.5(LDLR):c.2069_2085del (p.His690fs)	LDLR (H522fs +2 more)	Deletion (frameshift variant +1 more)	Cardiovascular phenotype	GPathogenic
Select item 3290393	NM_000527.5(LDLR):c.2070C>T (p.His690=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3290392	NM_000527.5(LDLR):c.2361G>C (p.Val787=)	LDLR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3290391	NM_000527.5(LDLR):c.1617del (p.Ala540fs)	LDLR (A372fs +3 more)	Deletion (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 3290390	NM_000527.5(LDLR):c.38_58del (p.Ala13_Ala19del)	LDLR, LDLR-AS1	Deletion (non-coding transcript variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3290386	NM_000527.5(LDLR):c.1987+27dup	LDLR	Duplication (intron variant)	Cardiovascular phenotype	GLikely benign
Select item 3258107	NM_000527.5(LDLR):c.1063del (p.Ile355fs)	LDLR (I187fs +3 more)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GPathogenic
Select item 3256915	NM_000527.4:c.(?_-1)_(940+1_941-1)del	LDLR	Deletion	Hypercholesterolemia, familial, 1	GPathogenic
Select item 3253447	NM_000527.5(LDLR):c.1475A>T (p.Asp492Val)	LDLR (D324V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251242	GRCh37/hg19 19p13.2(chr19:11213340-11218190)x3	LDLR	Copy number gain	not provided	GPathogenic
Select item 3251087	NM_000527.5(LDLR):c.552T>A (p.Cys184Ter)	LDLR (C143* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3250490	NM_000527.5(LDLR):c.*717G>A	LDLR	Single nucleotide variant (3 prime UTR variant)	Familial hypercholesterolemia	GBenign
Select item 3248481	NC_000019.9:g.(?_11094828)_(11373116_?)dup	ANGPTL8, DOCK6 +4 more	Duplication	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 3248394	NC_000019.9:g.(?_11212605)_(11217283_?)del	LDLR	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 3248393	NC_000019.9:g.(?_11230813)_(11235085_?)del	LDLR	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 3248392	NC_000019.9:g.(?_11223934)_(11231218_?)dup	LDLR	Duplication	Familial hypercholesterolemia	GLikely pathogenic
Select item 3248391	NC_000019.9:g.(?_11215876)_(11224458_?)dup	LDLR	Duplication	Familial hypercholesterolemia	GLikely pathogenic
Select item 3248390	NC_000019.9:g.(?_11238664)_(11242870_?)dup	LDLR	Duplication	Familial hypercholesterolemia	GLikely pathogenic
Select item 3248389	NC_000019.9:g.(?_11226750)_(11227694_?)dup	LDLR	Duplication	Familial hypercholesterolemia	GPathogenic
Select item 3248388	NC_000019.9:g.(?_11199955)_(11200311_?)dup	LDLR	Duplication	Familial hypercholesterolemia	GUncertain significance
Select item 3248387	NC_000019.9:g.(?_11223934)_(11224458_?)del	LDLR	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 3248386	NC_000019.9:g.(?_11221308)_(11224458_?)del	LDLR	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 3248384	NC_000019.9:g.(?_11215886)_(11221471_?)del	LDLR	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 3248383	NC_000019.9:g.(?_11215876)_(11217383_?)del	LDLR	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 3248382	NC_000019.9:g.(?_11213320)_(11224458_?)del	LDLR	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 3248381	NC_000019.9:g.(?_11233830)_(11241992_?)del	LDLR	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 3248380	NC_000019.9:g.(?_11230748)_(11241992_?)del	LDLR	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 3248379	NC_000019.9:g.(?_11226750)_(11241992_?)del	LDLR	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 3248378	NC_000019.9:g.(?_11226750)_(11231218_?)del	LDLR	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 3248377	NC_000019.9:g.(?_10828919)_(11222335_?)del	C19orf38, CARM1 +7 more	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 3248376	NC_000019.9:g.(?_10244343)_(11231218_?)del	AP1M2, ATG4D +29 more	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 3248375	NC_000019.9:g.(?_11215876)_(11216296_?)del	LDLR	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 3248373	NC_000019.9:g.(?_11213320)_(11213482_?)del	LDLR	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 3248372	NC_000019.9:g.(?_11210879)_(11211041_?)del	LDLR	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 3248371	NC_000019.9:g.(?_11233830)_(11234040_?)del	LDLR	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 3248370	NC_000019.9:g.(?_11227515)_(11227694_?)del	LDLR	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 3248369	NC_000019.9:g.(?_11199955)_(11200311_?)del	LDLR	Deletion	Familial hypercholesterolemia	GPathogenic
Select item 3231966	NM_000527.5(LDLR):c.726G>A (p.Gln242=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3231963	NM_000527.5(LDLR):c.631del (p.His211fs)	LDLR (H170fs +1 more)	Deletion (frameshift variant +1 more)	Cardiovascular phenotype	GPathogenic
Select item 3231961	NM_000527.5(LDLR):c.479G>C (p.Cys160Ser)	LDLR (C119S +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GLikely pathogenic
Select item 3231960	NM_000527.5(LDLR):c.423C>T (p.Ala141=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3231959	NM_000527.4:c.2462_2463insALU	LDLR	Insertion	Cardiovascular phenotype	GLikely pathogenic
Select item 3231958	NM_000527.5(LDLR):c.2187A>G (p.Leu729=)	LDLR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3231957	NM_000527.5(LDLR):c.2076C>T (p.Pro692=)	LDLR	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3231956	NM_000527.5(LDLR):c.1782C>T (p.Asn594=)	LDLR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3231954	NM_000527.5(LDLR):c.1704A>G (p.Leu568=)	LDLR	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3231953	NM_000527.5(LDLR):c.1661C>G (p.Ser554Trp)	LDLR (S386W +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3231951	NM_000527.5(LDLR):c.1587-1G>C	LDLR	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype	GPathogenic
Select item 3231948	NM_000527.5(LDLR):c.1322T>G (p.Ile441Ser)	LDLR (I273S +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 3231947	NM_000527.5(LDLR):c.1299_1304del (p.Asp433_Thr434del)	LDLR	Deletion (inframe_deletion)	Cardiovascular phenotype	GLikely pathogenic
Select item 3118265	NM_000527.5(LDLR):c.941-5C>A	LDLR	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 3118264	NM_000527.5(LDLR):c.485C>A (p.Pro162His)	LDLR (P162H +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3118263	NM_000527.5(LDLR):c.481_482insGACAGC (p.Ile161delinsArgGlnLeu)	LDLR	Insertion (inframe_indel +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3118261	NM_000527.5(LDLR):c.214G>A (p.Asp72Asn)	LDLR (D158N +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3118260	NM_000527.5(LDLR):c.1764_1775delinsGTCAATGGGGGCAACC (p.Ile588fs)	LDLR (I461fs +3 more)	Indel (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 3118259	NM_000527.5(LDLR):c.1251_1254del (p.Glu418fs)	LDLR (E250fs +3 more)	Deletion (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 3076070	NM_000527.5(LDLR):c.1988_2140+1064del	LDLR	Deletion (splice acceptor variant +2 more)	Homozygous familial hypercholesterolemia	GLikely pathogenic
Select item 3076062	NC_000019.10:g.(?_11110652)_(11110771_?)dup	LDLR	Duplication	Homozygous familial hypercholesterolemia	GLikely pathogenic
Select item 3076055	NC_000019.10:g.(?_11111514)_(11111639_?)del	LDLR	Deletion	Homozygous familial hypercholesterolemia	GLikely pathogenic
Select item 3076054	NC_000019.10:g.(?_11128008)_(11128085_?)del	LDLR	Deletion	Homozygous familial hypercholesterolemia	GLikely pathogenic
Select item 3076048	NC_000019.10:g.(?_11110652)_(11111639_?)del	LDLR	Deletion	Homozygous familial hypercholesterolemia	GPathogenic
Select item 3075824	NM_000527.5(LDLR):c.2322del (p.Asp774fs)	LDLR (D596fs +3 more)	Deletion (frameshift variant)	Hypercholesterolemia, familial, 1	GLikely pathogenic
Select item 3075778	NM_000527.5(LDLR):c.1637del (p.Gly546fs)	LDLR (G378fs +3 more)	Deletion (frameshift variant)	Homozygous familial hypercholesterolemia	GPathogenic
Select item 3075751	NM_000527.5(LDLR):c.2259_2277del (p.Gly754fs)	LDLR (G576fs +3 more)	Deletion (frameshift variant)	Homozygous familial hypercholesterolemia	GLikely pathogenic
Select item 3075750	NM_000527.5(LDLR):c.1984A>T (p.Arg662Ter)	LDLR (R494* +3 more)	Single nucleotide variant (nonsense)	Homozygous familial hypercholesterolemia	GLikely pathogenic
Select item 3075749	NM_000527.5(LDLR):c.817+1G>C	LDLR	Single nucleotide variant (splice donor variant +1 more)	Homozygous familial hypercholesterolemia	GLikely pathogenic
Select item 3075748	NM_000527.5(LDLR):c.18G>A (p.Trp6Ter)	LDLR, LDLR-AS1 (W6*)	Single nucleotide variant (non-coding transcript variant +1 more)	Homozygous familial hypercholesterolemia	GLikely pathogenic
Select item 3075488	NM_000527.5(LDLR):c.1548C>T (p.Gly516=)	LDLR	Single nucleotide variant (synonymous variant)	Hypercholesterolemia, familial, 1	GLikely benign
Select item 3075482	NM_000527.5(LDLR):c.1114G>C (p.Glu372Gln)	LDLR (E204Q +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3075304	NM_000527.5(LDLR):c.271G>A (p.Gly91Ser)	LDLR (G177S +1 more)	Single nucleotide variant (missense variant +1 more)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3075244	NM_000527.5(LDLR):c.2363G>A (p.Arg788Lys)	LDLR (R610K +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3075220	NM_000527.5(LDLR):c.1011G>T (p.Glu337Asp)	LDLR (E169D +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3075142	NC_000019.10:g.11089346C>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3075090	NC_000019.10:g.11089372G>T	LDLR, LDLR-AS1	Single nucleotide variant (non-coding transcript variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3075049	NM_000527.5(LDLR):c.2341G>A (p.Glu781Lys)	LDLR (E603K +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance
Select item 3075020	NM_000527.5(LDLR):c.2548-12A>C	LDLR	Single nucleotide variant (intron variant)	Hypercholesterolemia, familial, 1	GLikely benign

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