ClinVar for MedGen (Select 152875) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25022381.	NM_000527.5(LDLR):c.817+6C>T GRCh37: Chr19:11217369 GRCh38: Chr19:11106693	LDLR		Hypercholesterolemia, familial, 1	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 25003362.	NM_000527.5(LDLR):c.1464_1465del (p.Tyr489fs) GRCh37: Chr19:11224315-11224316 GRCh38: Chr19:11113639-11113640	LDLR	Y321fs, Y362fs, Y448fs, Y489fs	Hypercholesterolemia, familial, 1	Likely pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 25003083.	NM_000527.5(LDLR):c.397G>T (p.Asp133Tyr) GRCh37: Chr19:11215979 GRCh38: Chr19:11105303	LDLR	D133Y, D92Y	Hypercholesterolemia, familial, 1	Likely pathogenic (Feb 14, 2023)	criteria provided, single submitter
Select item 24411244.	NM_000527.5(LDLR):c.117C>A (p.Cys39Ter) GRCh37: Chr19:11210948 GRCh38: Chr19:11100272	LDLR	C125, C39	Hypercholesterolemia, familial, 1	Likely pathogenic (Apr 29, 2022)	criteria provided, single submitter
Select item 24411115.	NM_000527.5(LDLR):c.494G>A (p.Trp165Ter) GRCh37: Chr19:11216076 GRCh38: Chr19:11105400	LDLR	W124, W165	Hypercholesterolemia, familial, 1	Likely pathogenic (Jul 18, 2022)	criteria provided, single submitter
Select item 24334236.	NM_000527.5(LDLR):c.176C>T (p.Ser59Phe) GRCh37: Chr19:11211007 GRCh38: Chr19:11100331	LDLR	S145F, S59F	Hypercholesterolemia, familial, 1	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 24303727.	NM_000527.5(LDLR):c.1794_1795del (p.Leu599fs) GRCh37: Chr19:11227622-11227623 GRCh38: Chr19:11116946-11116947	LDLR	L431fs, L472fs, L558fs, L599fs	Hypercholesterolemia, familial, 1	Likely pathogenic	criteria provided, single submitter
Select item 24131928.	NM_000527.5(LDLR):c.1819C>G (p.His607Asp) GRCh37: Chr19:11227648 GRCh38: Chr19:11116972	LDLR	H439D, H480D, H566D, H607D	Hypercholesterolemia, familial, 1	Pathogenic (Sep 28, 2021)	criteria provided, single submitter
Select item 18041389.	NC_000019.9:g.(11213519_11215396)_(11244426_11256864)del GRCh37: Chr19:11213519-11256864	LDLR		Hypercholesterolemia, familial, 1	Pathogenic (Nov 24, 2022)	criteria provided, single submitter
Select item 175899710.	NM_000527.5(LDLR):c.1244_1245del (p.Asp415fs) GRCh37: Chr19:11224011-11224012 GRCh38: Chr19:11113335-11113336	LDLR	D288fs, D374fs, D415fs, D247fs	Cardiovascular phenotype, Hypercholesterolemia, familial, 1	Pathogenic (Oct 19, 2020)	criteria provided, multiple submitters, no conflicts
Select item 171225111.	NM_000527.5(LDLR):c.680A>G (p.Asp227Gly) GRCh37: Chr19:11216262 GRCh38: Chr19:11105586	LDLR	D186G, D227G	Hypercholesterolemia, familial, 1	Pathogenic	no assertion criteria provided
Select item 170959912.	NM_000527.5(LDLR):c.1061-2A>T GRCh37: Chr19:11222188 GRCh38: Chr19:11111512	LDLR		Hypercholesterolemia, familial, 1	Pathogenic (Jun 29, 2022)	criteria provided, single submitter
Select item 170319413.	NC_000019.9:g.(?_11200038)_(11211022_11213339)del GRCh37: Chr19:11200038-11213339	LDLR		Hypercholesterolemia, familial, 1	Pathogenic (Mar 25, 2022)	reviewed by expert panel FDA Recognized Database
Select item 170319314.	NC_000019.9:g.(?_11222190)_(11227674_?)del GRCh37: Chr19:11222190-11227674	LDLR		Hypercholesterolemia, familial, 1	Pathogenic (Jul 1, 2021)	reviewed by expert panel FDA Recognized Database
Select item 168592315.	NM_000527.5(LDLR):c.106G>T (p.Asp36Tyr) GRCh37: Chr19:11210937 GRCh38: Chr19:11100261	LDLR	D36Y	Hypercholesterolemia, familial, 1	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 167665716.	NM_000527.5(LDLR):c.1118dup (p.Gly374fs)	LDLR	G206fs, G247fs, G333fs, G374fs	Hypercholesterolemia, familial, 1	Pathogenic (Jun 26, 2018)	no assertion criteria provided
Select item 158158217.	NM_000527.5(LDLR):c.68-18C>G GRCh37: Chr19:11210881 GRCh38: Chr19:11100205	LDLR		Familial hypercholesterolemia, Cardiovascular phenotype, Hypercholesterolemia, familial, 1	Likely benign (Oct 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150929318.	NM_000527.5(LDLR):c.2440C>T (p.Arg814Trp) GRCh37: Chr19:11240239 GRCh38: Chr19:11129563	LDLR	R773W, R636W, R646W, R814W	Cardiovascular phenotype, Familial hypercholesterolemia, Hypercholesterolemia, familial, 1	Uncertain significance (Sep 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 142776419.	NM_000163.5(GHR):c.484G>T (p.Val162Phe) GRCh37: Chr5:42699970 GRCh38: Chr5:42699868	GHR	V140F, V162F, V169F	Short stature due to partial GHR deficiency, Hypercholesterolemia, familial, 1, Laron-type isolated somatotropin defect, not provided	Conflicting interpretations of pathogenicity (Oct 23, 2022)	criteria provided, conflicting interpretations
Select item 134952620.	NM_000527.5(LDLR):c.1608G>C (p.Trp536Cys) GRCh37: Chr19:11226791 GRCh38: Chr19:11116115	LDLR	W368C, W409C, W495C, W536C	Hypercholesterolemia, familial, 1, Familial hypercholesterolemia	Conflicting interpretations of pathogenicity (May 4, 2022)	criteria provided, conflicting interpretations
Select item 134158121.	NM_000527.5(LDLR):c.1691A>C (p.Asn564Thr) GRCh37: Chr19:11226874 GRCh38: Chr19:11116198	LDLR	N396T, N437T, N523T, N564T	Hypercholesterolemia, familial, 1	Pathogenic (Feb 15, 2022)	criteria provided, single submitter
Select item 134157022.	NM_000527.4:c.(313+1_314-1)_(1186+1_1187-1)del	LDLR		Hypercholesterolemia, familial, 1	Likely pathogenic (Feb 10, 2022)	criteria provided, single submitter
Select item 134156923.	NM_000527.5(LDLR):c.1253A>G (p.Glu418Gly) GRCh37: Chr19:11224020 GRCh38: Chr19:11113344	LDLR	E250G, E291G, E377G, E418G	Hypercholesterolemia, familial, 1	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 134156824.	NM_000527.5(LDLR):c.1214A>T (p.Asn405Ile) GRCh37: Chr19:11223981 GRCh38: Chr19:11113305	LDLR	N237I, N278I, N364I, N405I	Hypercholesterolemia, familial, 1	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 134156725.	NM_000527.5(LDLR):c.1965_1966delinsG (p.Phe655fs) GRCh37: Chr19:11230887-11230888 GRCh38: Chr19:11120211-11120212	LDLR	F487fs, F528fs, F614fs, F655fs	Hypercholesterolemia, familial, 1	Likely pathogenic (Feb 10, 2022)	criteria provided, single submitter
Select item 134156626.	NM_000527.5(LDLR):c.1846-11T>A GRCh37: Chr19:11230757 GRCh38: Chr19:11120081	LDLR		Hypercholesterolemia, familial, 1	Likely pathogenic (Feb 10, 2022)	criteria provided, single submitter
Select item 134156527.	NM_000527.5(LDLR):c.1706-2A>G GRCh37: Chr19:11227533 GRCh38: Chr19:11116857	LDLR		Hypercholesterolemia, familial, 1	Likely pathogenic (Feb 10, 2022)	criteria provided, single submitter
Select item 134156428.	NM_000527.5(LDLR):c.1586+1G>C GRCh37: Chr19:11224439 GRCh38: Chr19:11113763	LDLR		Hypercholesterolemia, familial, 1	Pathogenic (Feb 10, 2022)	criteria provided, single submitter
Select item 133440029.	NM_000527.5(LDLR):c.382T>G (p.Cys128Gly) GRCh37: Chr19:11215964 GRCh38: Chr19:11105288	LDLR	C128G, C87G	Hypercholesterolemia, familial, 1	Pathogenic (Dec 10, 2021)	criteria provided, single submitter
Select item 133439930.	NM_000527.5(LDLR):c.2022dup (p.Gly675fs) GRCh37: Chr19:11231079-11231080 GRCh38: Chr19:11120403-11120404	LDLR	G507fs, G634fs, G675fs	Hypercholesterolemia, familial, 1	Pathogenic (Dec 10, 2021)	criteria provided, single submitter
Select item 133439631.	NM_000527.5(LDLR):c.413C>A (p.Ser138Ter) GRCh37: Chr19:11215995 GRCh38: Chr19:11105319	LDLR	S138, S97	Hypercholesterolemia, familial, 1	Pathogenic (Dec 10, 2021)	criteria provided, single submitter
Select item 133439532.	NM_000527.5(LDLR):c.1756T>C (p.Ser586Pro) GRCh37: Chr19:11227585 GRCh38: Chr19:11116909	LDLR	S418P, S459P, S545P, S586P	Hypercholesterolemia, familial, 1	Likely pathogenic (Apr 8, 2021)	criteria provided, single submitter
Select item 133439433.	NM_000527.5(LDLR):c.-8C>A GRCh37: Chr19:11200217 GRCh38: Chr19:11089541	LDLR, LDLR-AS1		Hypercholesterolemia, familial, 1	Uncertain significance (Apr 8, 2021)	criteria provided, single submitter
Select item 133020334.	GRCh37/hg19 19p13.2(chr19:11215846-11222365)x3 GRCh37: Chr19:11213513-11223903	LDLR		Hypercholesterolemia, familial, 1	Likely pathogenic (Nov 2, 2021)	criteria provided, single submitter
Select item 132573435.	NM_000527.5:c.(2311+1_2312-1)_(2389+1_2390-1)del	LDLR		Hypercholesterolemia, familial, 1	Uncertain significance (Oct 20, 2021)	criteria provided, single submitter
Select item 132122936.	NM_000527.5(LDLR):c.1470G>C (p.Trp490Cys) GRCh37: Chr19:11224322 GRCh38: Chr19:11113646	LDLR	W322C, W363C, W449C, W490C	Cardiovascular phenotype	Likely pathogenic (Jul 11, 2022)	criteria provided, single submitter
Select item 132122837.	NM_000527.5(LDLR):c.1178A>C (p.Lys393Thr) GRCh37: Chr19:11222307 GRCh38: Chr19:11111631	LDLR	K225T, K266T, K352T, K393T	Hypercholesterolemia, familial, 1	Pathogenic (Jul 24, 2020)	no assertion criteria provided
Select item 132122738.	NM_000527.5(LDLR):c.764G>T (p.Cys255Phe) GRCh37: Chr19:11217310 GRCh38: Chr19:11106634	LDLR	C128F, C214F, C255F	Hypercholesterolemia, familial, 1	Pathogenic (Nov 16, 2019)	no assertion criteria provided
Select item 132122639.	NM_000527.5(LDLR):c.727T>A (p.Cys243Ser) GRCh37: Chr19:11217273 GRCh38: Chr19:11106597	LDLR	C116S, C202S, C243S	not provided	Likely pathogenic (Nov 21, 2022)	criteria provided, single submitter
Select item 132122540.	NM_000527.5(LDLR):c.619G>T (p.Gly207Cys) GRCh37: Chr19:11216201 GRCh38: Chr19:11105525	LDLR	G166C, G207C	Hypercholesterolemia, familial, 1	Pathogenic (Jan 21, 2007)	no assertion criteria provided
Select item 132122441.	NM_000527.5(LDLR):c.618T>A (p.Ser206Arg) GRCh37: Chr19:11216200 GRCh38: Chr19:11105524	LDLR	S165R, S206R	Hypercholesterolemia, familial, 1	Pathogenic (Aug 4, 2019)	no assertion criteria provided
Select item 132122342.	NM_000527.5(LDLR):c.607del (p.His203fs) GRCh37: Chr19:11216188 GRCh38: Chr19:11105512	LDLR	H162fs, H203fs	Hypercholesterolemia, familial, 1	Pathogenic (Oct 25, 2019)	no assertion criteria provided
Select item 132122243.	NM_000527.5(LDLR):c.378C>A (p.Phe126Leu) GRCh37: Chr19:11215960 GRCh38: Chr19:11105284	LDLR	F126L, F85L	Hypercholesterolemia, familial, 1	Pathogenic (Jul 26, 2006)	no assertion criteria provided
Select item 132122144.	NM_000527.5(LDLR):c.2487G>C (p.Gln829His) GRCh37: Chr19:11240286 GRCh38: Chr19:11129610	LDLR	Q651H, Q661H, Q788H, Q829H	Hypercholesterolemia, familial, 1	Pathogenic (Jun 18, 2020)	no assertion criteria provided
Select item 132122045.	NM_000527.5(LDLR):c.1980G>C (p.Gln660His) GRCh37: Chr19:11230902 GRCh38: Chr19:11120226	LDLR	Q492H, Q533H, Q619H, Q660H	Cardiovascular phenotype	Uncertain significance (Dec 8, 2022)	criteria provided, single submitter
Select item 132121946.	NM_000527.5(LDLR):c.1732G>T (p.Val578Phe) GRCh37: Chr19:11227561 GRCh38: Chr19:11116885	LDLR	V410F, V451F, V537F, V578F	Cardiovascular phenotype, Familial hypercholesterolemia	Uncertain significance (Jan 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132121847.	NM_000527.5(LDLR):c.1550C>T (p.Ser517Phe) GRCh37: Chr19:11224402 GRCh38: Chr19:11113726	LDLR	S349F, S390F, S476F, S517F	Hypercholesterolemia, familial, 1	Pathogenic (Oct 10, 2019)	no assertion criteria provided
Select item 132121748.	NM_000527.5(LDLR):c.103del (p.Gln35fs) GRCh37: Chr19:11210933 GRCh38: Chr19:11100257	LDLR	Q35fs	Hypercholesterolemia, familial, 1	Pathogenic (Aug 14, 2020)	no assertion criteria provided
Select item 130003049.	NM_000527.5(LDLR):c.373_379del (p.Gln125fs) GRCh37: Chr19:11215954-11215960 GRCh38: Chr19:11105278-11105284	LDLR	Q125fs, Q84fs	Hypercholesterolemia, familial, 1	Likely pathogenic (Oct 15, 2021)	no assertion criteria provided
Select item 129704350.	NM_000527.5(LDLR):c.314-50_1186+50dup GRCh37: Chr19:11221454 GRCh38: Chr19:11105168-11105169	LDLR		Hypercholesterolemia, familial, 1	Uncertain significance (Apr 7, 2021)	criteria provided, single submitter
Select item 122054851.	NM_000527.5(LDLR):c.181G>T (p.Glu61Ter) GRCh37: Chr19:11211012 GRCh38: Chr19:11100336	LDLR	E61*	Hypercholesterolemia, familial, 1	Pathogenic	no assertion criteria provided
Select item 119938052.	NM_000527.5(LDLR):c.1043C>T (p.Ala348Val) GRCh37: Chr19:11221430 GRCh38: Chr19:11110754	LDLR	A180V, A221V, A307V, A348V	Hypercholesterolemia, familial, 1	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 118049553.	NM_000527.5(LDLR):c.482T>A (p.Ile161Asn) GRCh37: Chr19:11216064 GRCh38: Chr19:11105388	LDLR	I120N, I161N	Familial hypercholesterolemia, Hypercholesterolemia, familial, 1	Conflicting interpretations of pathogenicity (Sep 26, 2021)	criteria provided, conflicting interpretations
Select item 118049454.	NM_000527.5(LDLR):c.227_233del (p.Gly76fs) GRCh37: Chr19:11213375-11213381 GRCh38: Chr19:11102699-11102705	LDLR	G76fs	Familial hypercholesterolemia, Hypercholesterolemia, familial, 1	Pathogenic/Likely pathogenic (Dec 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117293855.	NM_000527.5(LDLR):c.2548-147G>A GRCh37: Chr19:11241810 GRCh38: Chr19:11131134	LDLR		Hypercholesterolemia, familial, 1	Benign (Jun 10, 2021)	criteria provided, single submitter
Select item 117293756.	NM_000527.5(LDLR):c.1705+209C>T GRCh37: Chr19:11227097 GRCh38: Chr19:11116421	LDLR		Hypercholesterolemia, familial, 1	Benign (Jun 10, 2021)	criteria provided, single submitter
Select item 117293657.	NM_000527.5(LDLR):c.1705+182C>T GRCh37: Chr19:11227070 GRCh38: Chr19:11116394	LDLR		Hypercholesterolemia, familial, 1	Benign (Jun 10, 2021)	criteria provided, single submitter
Select item 117293558.	NM_000527.5(LDLR):c.1586+53A>G GRCh37: Chr19:11224491 GRCh38: Chr19:11113815	LDLR		Hypercholesterolemia, familial, 1	Benign (Jun 10, 2021)	criteria provided, single submitter
Select item 117190359.	NM_000527.5(LDLR):c.1579G>A (p.Val527Ile) GRCh37: Chr19:11224431 GRCh38: Chr19:11113755	LDLR	V359I, V400I, V486I, V527I	Hypercholesterolemia, familial, 1, Familial hypercholesterolemia	Uncertain significance (Nov 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117167160.	NM_000527.5(LDLR):c.1612A>G (p.Thr538Ala) GRCh37: Chr19:11226795 GRCh38: Chr19:11116119	LDLR	T370A, T411A, T497A, T538A	Hypercholesterolemia, familial, 1, Familial hypercholesterolemia	Uncertain significance (Aug 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 113304661.	NM_000527.5(LDLR):c.2389+9G>A GRCh37: Chr19:11238770 GRCh38: Chr19:11128094	LDLR		Familial hypercholesterolemia, Hypercholesterolemia, familial, 1	Likely benign (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 112025962.	NM_000527.5(LDLR):c.1070_1071dup (p.Cys358fs) GRCh37: Chr19:11222197-11222198 GRCh38: Chr19:11111521-11111522	LDLR	C190fs, C231fs, C317fs, C358fs	Hypercholesterolemia, familial, 1	Pathogenic (May 24, 2021)	criteria provided, single submitter
Select item 112025863.	NM_000527.5(LDLR):c.1061-1G>T GRCh37: Chr19:11222189 GRCh38: Chr19:11111513	LDLR		Hypercholesterolemia, familial, 1	Pathogenic (May 24, 2021)	criteria provided, single submitter
Select item 112025664.	NM_000527.5(LDLR):c.2547+2T>G GRCh37: Chr19:11240348 GRCh38: Chr19:11129672	LDLR		Hypercholesterolemia, familial, 1	Pathogenic (May 24, 2021)	criteria provided, single submitter
Select item 112025565.	NM_000527.4:c.(1705+1_1706-1)_(1845+1_1846-1)del	LDLR		Hypercholesterolemia, familial, 1	Pathogenic (May 24, 2021)	criteria provided, single submitter
Select item 112025466.	NM_000527.4:c.(67+1_68-1)_(1845+1_1846-1)del	LDLR		Hypercholesterolemia, familial, 1	Pathogenic (May 24, 2021)	criteria provided, single submitter
Select item 112025367.	NM_000527.4:c.(2140+1_2141-1)_(2389+1_2390-1)del	LDLR		Hypercholesterolemia, familial, 1	Pathogenic (May 24, 2021)	criteria provided, single submitter
Select item 112025268.	NM_000527.4:c.(1845+1_1846-1)_(2311+1_2312-1)del	LDLR		Hypercholesterolemia, familial, 1	Pathogenic (May 24, 2021)	criteria provided, single submitter
Select item 112025169.	NM_000527.4(LDLR):c.(1586+1_1587-1)_(1845+1_1846-1)del	LDLR		Hypercholesterolemia, familial, 1	Pathogenic (May 24, 2021)	criteria provided, single submitter
Select item 112025070.	NM_000527.4(LDLR):c.(1845+1_1846-1)_(2140+1_2141-1)del	LDLR		Hypercholesterolemia, familial, 1	Pathogenic (May 24, 2021)	criteria provided, single submitter
Select item 112024971.	NM_000527.5(LDLR):c.1943_1944delinsG (p.Ser648fs) GRCh37: Chr19:11230865-11230866 GRCh38: Chr19:11120189-11120190	LDLR	S480fs, S521fs, S607fs, S648fs	Hypercholesterolemia, familial, 1	Pathogenic (May 24, 2021)	criteria provided, single submitter
Select item 112024872.	NM_000527.5(LDLR):c.102C>G (p.Cys34Trp) GRCh37: Chr19:11210933 GRCh38: Chr19:11100257	LDLR	C34W	Hypercholesterolemia, familial, 1	Likely pathogenic (May 24, 2021)	criteria provided, single submitter
Select item 112024773.	NM_000527.5(LDLR):c.1686G>T (p.Trp562Cys) GRCh37: Chr19:11226869 GRCh38: Chr19:11116193	LDLR	W394C, W435C, W521C, W562C	Hypercholesterolemia, familial, 1	Likely pathogenic (May 24, 2021)	criteria provided, single submitter
Select item 112024674.	NM_000527.5(LDLR):c.1331C>T (p.Ser444Phe) GRCh37: Chr19:11224098 GRCh38: Chr19:11113422	LDLR	S276F, S317F, S403F, S444F	Hypercholesterolemia, familial, 1	Likely pathogenic (May 24, 2021)	criteria provided, single submitter
Select item 112024575.	NM_000527.5(LDLR):c.1277T>G (p.Leu426Arg) GRCh37: Chr19:11224044 GRCh38: Chr19:11113368	LDLR	L258R, L299R, L385R, L426R	Cardiovascular phenotype, not provided, Familial hypercholesterolemia, Hypercholesterolemia, familial, 1	Conflicting interpretations of pathogenicity (May 26, 2022)	criteria provided, conflicting interpretations
Select item 112015076.	Single allele GRCh37: Chr19:11233850-11234020	LDLR		Hypercholesterolemia, familial, 1	Pathogenic (Nov 21, 2019)	criteria provided, single submitter
Select item 112014977.	Single allele GRCh37: Chr19:11221328-11227674	LDLR		Hypercholesterolemia, familial, 1	Pathogenic (Aug 30, 2019)	criteria provided, single submitter
Select item 112014878.	Single allele GRCh37: Chr19:11217241-11217363	LDLR		Hypercholesterolemia, familial, 1	Pathogenic (Sep 18, 2019)	criteria provided, single submitter
Select item 112014779.	Single allele GRCh37: Chr19:11213340-11217363	LDLR		Hypercholesterolemia, familial, 1	Pathogenic (Dec 9, 2020)	criteria provided, single submitter
Select item 112014580.	Single allele GRCh37: Chr19:11210899-11218190	LDLR		Hypercholesterolemia, familial, 1	Pathogenic (Apr 25, 2019)	criteria provided, single submitter
Select item 105953781.	NM_000527.5(LDLR):c.1724T>C (p.Leu575Pro) GRCh37: Chr19:11227553 GRCh38: Chr19:11116877	LDLR	L407P, L448P, L534P, L575P	Familial hypercholesterolemia, Cardiovascular phenotype, Hypercholesterolemia, familial, 1	Conflicting interpretations of pathogenicity (Mar 13, 2023)	criteria provided, conflicting interpretations
Select item 103049882.	NM_001979.6(EPHX2):c.590G>C (p.Gly197Ala) GRCh37: Chr8:27364441 GRCh38: Chr8:27506924	EPHX2	G144A, G131A, G197A	Hypercholesterolemia, familial, 1	Uncertain significance (Jan 31, 2020)	criteria provided, single submitter
Select item 99805583.	NM_000527.5(LDLR):c.203G>T (p.Cys68Phe) GRCh37: Chr19:11213352 GRCh38: Chr19:11102676	LDLR	C68F	Hypercholesterolemia, familial, 1, Familial hypercholesterolemia	Uncertain significance (Apr 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 99805384.	NM_000527.5(LDLR):c.976T>C (p.Ser326Pro) GRCh37: Chr19:11221363 GRCh38: Chr19:11110687	LDLR	S158P, S199P, S285P, S326P	Hypercholesterolemia, familial, 1	Uncertain significance (Feb 14, 2022)	reviewed by expert panel FDA Recognized Database
Select item 99805285.	NM_000527.5(LDLR):c.1327T>C (p.Trp443Arg) GRCh37: Chr19:11224094 GRCh38: Chr19:11113418	LDLR	W275R, W316R, W402R, W443R	Hypercholesterolemia, familial, 1, Familial hypercholesterolemia	Pathogenic/Likely pathogenic (Aug 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 99623186.	NM_000527.5(LDLR):c.139G>T (p.Asp47Tyr) GRCh37: Chr19:11210970 GRCh38: Chr19:11100294	LDLR	D47Y	Hypercholesterolemia, familial, 1	Uncertain significance (Mar 30, 2022)	reviewed by expert panel FDA Recognized Database
Select item 99290087.	NM_000527.5(LDLR):c.1436T>A (p.Leu479Gln) GRCh37: Chr19:11224288 GRCh38: Chr19:11113612	LDLR	L311Q, L352Q, L438Q, L479Q	Hypercholesterolemia, familial, 1	Pathogenic	no assertion criteria provided
Select item 98876888.	NM_000527.5(LDLR):c.1255dup (p.Tyr419fs) GRCh37: Chr19:11224021-11224022 GRCh38: Chr19:11113345-11113346	LDLR	Y251fs, Y292fs, Y378fs, Y419fs	Cardiovascular phenotype	Pathogenic (Jul 21, 2022)	criteria provided, single submitter
Select item 98673989.	NM_000527.5(LDLR):c.1014C>G (p.Cys338Trp) GRCh37: Chr19:11221401 GRCh38: Chr19:11110725	LDLR	C170W, C211W, C297W, C338W	Hypercholesterolemia, familial, 1	Pathogenic	no assertion criteria provided
Select item 98297990.	NM_000527.5(LDLR):c.1054_1056del (p.Cys352del) GRCh37: Chr19:11221441-11221443 GRCh38: Chr19:11110765-11110767	LDLR	C184del, C225del, C311del, C352del	Hypercholesterolemia, familial, 1	Likely pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 97916891.	NM_000527.5(LDLR):c.1961T>C (p.Leu654Pro) GRCh37: Chr19:11230883 GRCh38: Chr19:11120207	LDLR	L486P, L527P, L613P, L654P	Cardiovascular phenotype, Familial hypercholesterolemia	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 97835292.	NM_000384.3(APOB):c.6922G>A (p.Glu2308Lys) GRCh37: Chr2:21232818 GRCh38: Chr2:21009946	APOB	E2308K	Hypercholesterolemia, familial, 1	Uncertain significance (Jan 24, 2020)	criteria provided, single submitter
Select item 97830393.	NM_000384.3(APOB):c.3927T>A (p.Asp1309Glu) GRCh37: Chr2:21236321 GRCh38: Chr2:21013449	APOB	D1309E	Cardiovascular phenotype, Hypercholesterolemia, familial, 1	Uncertain significance (Aug 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97830194.	NM_000384.3(APOB):c.7148_7149del (p.Gln2383fs) GRCh37: Chr2:21232591-21232592 GRCh38: Chr2:21009719-21009720	APOB	Q2383fs	Hypercholesterolemia, familial, 1	Likely pathogenic (Sep 5, 2019)	criteria provided, single submitter
Select item 97799995.	NM_000527.5(LDLR):c.910del (p.Asp304fs) GRCh37: Chr19:11218158 GRCh38: Chr19:11107482	LDLR	D136fs, D177fs, D263fs, D304fs	Hypercholesterolemia, familial, 1	Pathogenic (May 11, 2019)	criteria provided, single submitter
Select item 97799896.	NM_000527.5(LDLR):c.850_852del (p.Cys284del) GRCh37: Chr19:11218100-11218102 GRCh38: Chr19:11107424-11107426	LDLR	C116del, C157del, C243del, C284del	Hypercholesterolemia, familial, 1	Likely pathogenic (Jun 5, 2019)	criteria provided, single submitter
Select item 97799797.	NM_000527.5(LDLR):c.845T>G (p.Phe282Cys) GRCh37: Chr19:11218095 GRCh38: Chr19:11107419	LDLR	F114C, F155C, F241C, F282C	Hypercholesterolemia, familial, 1	Uncertain significance (Jun 5, 2019)	criteria provided, single submitter
Select item 97799698.	NM_000527.5(LDLR):c.844T>C (p.Phe282Leu) GRCh37: Chr19:11218094 GRCh38: Chr19:11107418	LDLR	F114L, F155L, F241L, F282L	Hypercholesterolemia, familial, 1	Uncertain significance (Jun 5, 2019)	criteria provided, single submitter
Select item 97799599.	NM_000527.5(LDLR):c.843_844insGGAC (p.Phe282fs) GRCh37: Chr19:11218093-11218094 GRCh38: Chr19:11107417-11107418	LDLR	F114fs, F155fs, F241fs, F282fs	Hypercholesterolemia, familial, 1	Pathogenic (Jun 5, 2019)	criteria provided, single submitter
Select item 977994100.	NM_000527.5(LDLR):c.1502C>G (p.Ala501Gly) GRCh37: Chr19:11224354 GRCh38: Chr19:11113678	LDLR	A333G, A374G, A460G, A501G	Hypercholesterolemia, familial, 1	Uncertain significance (Dec 6, 2018)	criteria provided, single submitter

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