ClinVar for MedGen (Select 5688) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24982731.	NM_174936.4(PCSK9):c.487C>T (p.Pro163Ser) GRCh37: Chr1:55512283 GRCh38: Chr1:55046610	PCSK9	P144S, P163S, P204S, P38S, P99S	Familial hypercholesterolemia	Uncertain significance (Jan 7, 2021)	no assertion criteria provided
Select item 24982722.	NM_174936.4(PCSK9):c.65_66insGCC (p.Leu22_Leu23insPro) GRCh37: Chr1:55505575-55505576 GRCh38: Chr1:55039902-55039903	PCSK9		Familial hypercholesterolemia	Uncertain significance (Nov 10, 2021)	no assertion criteria provided
Select item 24232233.	NC_000019.9:g.(?_11234271)_(11242805_?)dup GRCh37: Chr19:11234271-11242805	LDLR		Familial hypercholesterolemia	Likely pathogenic (Sep 16, 2022)	criteria provided, single submitter
Select item 24232224.	NC_000019.9:g.(?_11223934)_(11241992_?)del GRCh37: Chr19:11223934-11241992	LDLR		Familial hypercholesterolemia	Pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 24232215.	NC_000019.9:g.(?_11223934)_(11231218_?)del GRCh37: Chr19:11223934-11231218	LDLR		Familial hypercholesterolemia	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 24232206.	NC_000019.9:g.(?_11230748)_(11234040_?)del GRCh37: Chr19:11230748-11234040	LDLR		Familial hypercholesterolemia	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 24232197.	NC_000019.9:g.(?_11223934)_(11224458_?)dup GRCh37: Chr19:11223934-11224458	LDLR		Familial hypercholesterolemia	Pathogenic (May 5, 2022)	criteria provided, single submitter
Select item 24232188.	NC_000019.9:g.(?_11213330)_(11227689_?)dup GRCh37: Chr19:11213330-11227689	LDLR		Familial hypercholesterolemia	Likely pathogenic (Jan 5, 2022)	criteria provided, single submitter
Select item 24232179.	NC_000019.9:g.(?_11210879)_(11221467_?)dup GRCh37: Chr19:11210879-11221467	LDLR		Familial hypercholesterolemia	Uncertain significance (Sep 25, 2022)	criteria provided, single submitter
Select item 242321610.	NC_000019.9:g.(?_11210879)_(11218210_?)dup GRCh37: Chr19:11210879-11218210	LDLR		Familial hypercholesterolemia	Likely pathogenic (Jan 11, 2022)	criteria provided, single submitter
Select item 242321511.	NC_000019.9:g.(?_11230748)_(11234040_?)dup GRCh37: Chr19:11230748-11234040	LDLR		Familial hypercholesterolemia	Pathogenic (Sep 6, 2022)	criteria provided, single submitter
Select item 242321412.	NC_000019.9:g.(?_11230748)_(11231218_?)dup GRCh37: Chr19:11230748-11231218	LDLR		Familial hypercholesterolemia	Pathogenic (May 12, 2022)	criteria provided, single submitter
Select item 242321313.	NC_000019.9:g.(?_11241937)_(11241992_?)dup GRCh37: Chr19:11241937-11241992	LDLR		Familial hypercholesterolemia	Uncertain significance (Dec 31, 2021)	criteria provided, single submitter
Select item 242321214.	NC_000019.9:g.(?_11238664)_(11238781_?)dup GRCh37: Chr19:11238664-11238781	LDLR		Familial hypercholesterolemia	Uncertain significance (Dec 31, 2021)	criteria provided, single submitter
Select item 242321115.	NC_000019.9:g.(?_11223934)_(11234040_?)del GRCh37: Chr19:11223934-11234040	LDLR		Familial hypercholesterolemia	Pathogenic (Feb 23, 2022)	criteria provided, single submitter
Select item 242321016.	NC_000019.9:g.(?_11215876)_(11241992_?)del GRCh37: Chr19:11215876-11241992	LDLR		Familial hypercholesterolemia	Pathogenic (Aug 21, 2022)	criteria provided, single submitter
Select item 242320917.	NC_000019.9:g.(?_11233830)_(11238781_?)del GRCh37: Chr19:11233830-11238781	LDLR		Familial hypercholesterolemia	Pathogenic (Sep 23, 2022)	criteria provided, single submitter
Select item 242320818.	NC_000019.9:g.(?_11227515)_(11241992_?)del GRCh37: Chr19:11227515-11241992	LDLR		Familial hypercholesterolemia	Pathogenic (Sep 28, 2022)	criteria provided, single submitter
Select item 242320719.	NC_000019.9:g.(?_11218048)_(11218210_?)del GRCh37: Chr19:11218048-11218210	LDLR		Familial hypercholesterolemia	Pathogenic (Apr 11, 2022)	criteria provided, single submitter
Select item 242320620.	NC_000019.9:g.(?_11217221)_(11217383_?)del GRCh37: Chr19:11217221-11217383	LDLR		Familial hypercholesterolemia	Pathogenic (Oct 23, 2022)	criteria provided, single submitter
Select item 242320521.	NC_000019.9:g.(?_11240169)_(11240366_?)del GRCh37: Chr19:11240169-11240366	LDLR		Familial hypercholesterolemia	Pathogenic (Feb 18, 2022)	criteria provided, single submitter
Select item 241990722.	NM_000527.5(LDLR):c.2138C>T (p.Thr713Ile) GRCh37: Chr19:11231196 GRCh38: Chr19:11120520	LDLR	T545I, T672I, T713I	Familial hypercholesterolemia	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 241258923.	NM_000384.3(APOB):c.6047A>G (p.Asp2016Gly) GRCh37: Chr2:21233693 GRCh38: Chr2:21010821	APOB	D2016G	Familial hypercholesterolemia	Uncertain significance (Feb 12, 2021)	no assertion criteria provided
Select item 241258824.	NC_000019.9:g.11247636G>T GRCh37: Chr19:11247636 GRCh38: Chr19:11136960	LDLR		Familial hypercholesterolemia	Uncertain significance (Apr 19, 2021)	no assertion criteria provided
Select item 241258725.	NM_000527.5(LDLR):c.*2098C>G GRCh37: Chr19:11244090 GRCh38: Chr19:11133414	LDLR		Familial hypercholesterolemia	Uncertain significance (Feb 12, 2021)	no assertion criteria provided
Select item 241258626.	NM_000041.4(APOE):c.237-4G>T GRCh37: Chr19:45411786 GRCh38: Chr19:44908529	APOE		Familial hypercholesterolemia	Uncertain significance (Apr 26, 2021)	no assertion criteria provided
Select item 219925227.	NM_000527.5(LDLR):c.1670C>T (p.Thr557Ile) GRCh37: Chr19:11226853 GRCh38: Chr19:11116177	LDLR	T430I, T557I, T389I, T516I	Familial hypercholesterolemia	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 219873428.	NM_000527.5(LDLR):c.2305C>T (p.His769Tyr) GRCh37: Chr19:11234014 GRCh38: Chr19:11123338	LDLR	H591Y, H601Y, H728Y, H769Y	Familial hypercholesterolemia	Uncertain significance (Dec 25, 2021)	criteria provided, single submitter
Select item 219319629.	NM_000527.5(LDLR):c.1438G>T (p.Ala480Ser) GRCh37: Chr19:11224290 GRCh38: Chr19:11113614	LDLR	A312S, A353S, A439S, A480S	Familial hypercholesterolemia	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 219270030.	NM_000527.5(LDLR):c.645C>T (p.Arg215=) GRCh37: Chr19:11216227 GRCh38: Chr19:11105551	LDLR		Familial hypercholesterolemia	Likely benign (Feb 6, 2022)	criteria provided, single submitter
Select item 219046731.	NM_000527.5(LDLR):c.1221C>A (p.His407Gln) GRCh37: Chr19:11223988 GRCh38: Chr19:11113312	LDLR	H407Q, H239Q, H280Q, H366Q	Familial hypercholesterolemia	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 218873632.	NM_000527.5(LDLR):c.759G>T (p.Arg253=) GRCh37: Chr19:11217305 GRCh38: Chr19:11106629	LDLR		Familial hypercholesterolemia	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 218696133.	NM_000527.5(LDLR):c.900A>G (p.Arg300=) GRCh37: Chr19:11218150 GRCh38: Chr19:11107474	LDLR		Familial hypercholesterolemia	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 218332734.	NM_000527.5(LDLR):c.818-7C>A GRCh37: Chr19:11218061 GRCh38: Chr19:11107385	LDLR		Familial hypercholesterolemia	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 218008835.	NM_000527.5(LDLR):c.1346G>T (p.Arg449Ile) GRCh37: Chr19:11224113 GRCh38: Chr19:11113437	LDLR	R322I, R281I, R449I, R408I	Familial hypercholesterolemia	Uncertain significance (Dec 27, 2021)	criteria provided, single submitter
Select item 217602136.	NM_000527.5(LDLR):c.1186+20G>A GRCh37: Chr19:11222335 GRCh38: Chr19:11111659	LDLR		Familial hypercholesterolemia	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 217586437.	NM_000527.5(LDLR):c.228G>A (p.Gly76=) GRCh37: Chr19:11213377 GRCh38: Chr19:11102701	LDLR		Familial hypercholesterolemia	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 217543838.	NM_000527.5(LDLR):c.1358+7G>C GRCh37: Chr19:11224132 GRCh38: Chr19:11113456	LDLR		Familial hypercholesterolemia	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 217485939.	NM_000527.5(LDLR):c.1729T>A (p.Trp577Arg) GRCh37: Chr19:11227558 GRCh38: Chr19:11116882	LDLR	W536R, W409R, W450R, W577R	Familial hypercholesterolemia	Pathogenic (Feb 22, 2022)	criteria provided, single submitter
Select item 216960740.	NM_000527.5(LDLR):c.494G>T (p.Trp165Leu) GRCh37: Chr19:11216076 GRCh38: Chr19:11105400	LDLR	W165L, W124L	Familial hypercholesterolemia	Uncertain significance (Mar 30, 2022)	criteria provided, single submitter
Select item 216592441.	NM_000527.5(LDLR):c.2141A>C (p.Glu714Ala) GRCh37: Chr19:11233850 GRCh38: Chr19:11123174	LDLR	E536A, E714A, E673A, E546A	Familial hypercholesterolemia	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 216574042.	NM_000527.5(LDLR):c.1407C>T (p.Ile469=) GRCh37: Chr19:11224259 GRCh38: Chr19:11113583	LDLR		Familial hypercholesterolemia	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 216089743.	NM_000527.5(LDLR):c.67+6G>T GRCh37: Chr19:11200297 GRCh38: Chr19:11089621	LDLR-AS1, LDLR		Familial hypercholesterolemia	Uncertain significance (Jul 20, 2021)	criteria provided, single submitter
Select item 216089144.	NM_000527.5(LDLR):c.1692T>G (p.Asn564Lys) GRCh37: Chr19:11226875 GRCh38: Chr19:11116199	LDLR	N396K, N437K, N523K, N564K	Familial hypercholesterolemia	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 215830645.	NM_000527.5(LDLR):c.2374A>G (p.Ile792Val) GRCh37: Chr19:11238746 GRCh38: Chr19:11128070	LDLR	I792V, I614V, I751V, I624V	Familial hypercholesterolemia	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 215752746.	NM_000527.5(LDLR):c.1214A>G (p.Asn405Ser) GRCh37: Chr19:11223981 GRCh38: Chr19:11113305	LDLR	N237S, N364S, N405S, N278S	Familial hypercholesterolemia	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 215509147.	NM_000527.4(LDLR):c.-178T>C GRCh37: Chr19:11200047 GRCh38: Chr19:11089371	LDLR, LDLR-AS1		Familial hypercholesterolemia	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 215230948.	NM_000527.5(LDLR):c.1963T>C (p.Phe655Leu) GRCh37: Chr19:11230885 GRCh38: Chr19:11120209	LDLR	F614L, F528L, F487L, F655L	Familial hypercholesterolemia	Likely pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 215230849.	NM_000527.5(LDLR):c.1060G>A (p.Asp354Asn) GRCh37: Chr19:11221447 GRCh38: Chr19:11110771	LDLR	D227N, D313N, D354N, D186N	Familial hypercholesterolemia	Likely pathogenic (Jul 3, 2022)	criteria provided, single submitter
Select item 215230750.	NM_000527.5(LDLR):c.920A>C (p.Asp307Ala) GRCh37: Chr19:11218170 GRCh38: Chr19:11107494	LDLR	D139A, D266A, D307A, D180A	Familial hypercholesterolemia	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 215230651.	NM_000527.5(LDLR):c.906C>A (p.Cys302Ter) GRCh37: Chr19:11218156 GRCh38: Chr19:11107480	LDLR	C175, C261, C302, C134	Familial hypercholesterolemia	Pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 215060852.	NM_000527.5(LDLR):c.2009C>T (p.Thr670Ile) GRCh37: Chr19:11231067 GRCh38: Chr19:11120391	LDLR	T629I, T670I, T502I	Familial hypercholesterolemia	Uncertain significance (Mar 16, 2021)	criteria provided, single submitter
Select item 214961953.	NM_000527.5(LDLR):c.1061-143C>T GRCh37: Chr19:11222047 GRCh38: Chr19:11111371	LDLR		Familial hypercholesterolemia	Benign (Oct 31, 2022)	criteria provided, single submitter
Select item 214420854.	NM_000527.4(LDLR):c.-166A>C GRCh37: Chr19:11200059 GRCh38: Chr19:11089383	LDLR, LDLR-AS1		Familial hypercholesterolemia	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 213823055.	NM_000527.5(LDLR):c.1885_1889delinsGATCATCAACC (p.Phe629_Ser630delinsAspHisGlnPro) GRCh37: Chr19:11230807-11230811 GRCh38: Chr19:11120131-11120135	LDLR		Familial hypercholesterolemia	Likely pathogenic (Apr 27, 2022)	criteria provided, single submitter
Select item 213822556.	NM_000527.5(LDLR):c.1470G>T (p.Trp490Cys) GRCh37: Chr19:11224322 GRCh38: Chr19:11113646	LDLR	W363C, W449C, W322C, W490C	Familial hypercholesterolemia	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 213394457.	NM_000527.5(LDLR):c.1645G>C (p.Gly549Arg) GRCh37: Chr19:11226828 GRCh38: Chr19:11116152	LDLR	G381R, G422R, G508R, G549R	Familial hypercholesterolemia	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 213338158.	NM_000527.5(LDLR):c.2395dup (p.Leu799fs) GRCh37: Chr19:11240192-11240193 GRCh38: Chr19:11129516-11129517	LDLR	L621fs, L631fs, L758fs, L799fs	Familial hypercholesterolemia	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 213248159.	NM_000527.5(LDLR):c.2121_2128dup (p.Ser710delinsThrTer) GRCh37: Chr19:11231175-11231176 GRCh38: Chr19:11120499-11120500	LDLR		Familial hypercholesterolemia	Pathogenic (May 1, 2022)	criteria provided, single submitter
Select item 213188260.	NM_000527.5(LDLR):c.2046C>T (p.Leu682=) GRCh37: Chr19:11231104 GRCh38: Chr19:11120428	LDLR		Familial hypercholesterolemia	Likely benign (Jun 11, 2022)	criteria provided, single submitter
Select item 213118561.	NM_000527.5(LDLR):c.1067_1068insAGAGTGTCAGGATCCCGA (p.Ile355_Asp356insGluGluCysGlnAspPro) GRCh37: Chr19:11222193-11222194 GRCh38: Chr19:11111517-11111518	LDLR		Familial hypercholesterolemia	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 212908562.	NM_000527.5(LDLR):c.940+9C>G GRCh37: Chr19:11218199 GRCh38: Chr19:11107523	LDLR		Familial hypercholesterolemia	Likely benign (Apr 22, 2022)	criteria provided, single submitter
Select item 212552863.	NM_000527.5(LDLR):c.403T>C (p.Leu135=) GRCh37: Chr19:11215985 GRCh38: Chr19:11105309	LDLR		Familial hypercholesterolemia	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 212549164.	NM_000527.5(LDLR):c.313+8T>C GRCh37: Chr19:11213470 GRCh38: Chr19:11102794	LDLR		Familial hypercholesterolemia	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 212546065.	NM_000527.5(LDLR):c.497C>A (p.Ala166Asp) GRCh37: Chr19:11216079 GRCh38: Chr19:11105403	LDLR	A125D, A166D	Familial hypercholesterolemia	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 212543966.	NM_000527.5(LDLR):c.673_675inv (p.Lys225Phe) GRCh37: Chr19:11216255-11216257 GRCh38: Chr19:11105579-11105581	LDLR	K184F, K225F	Familial hypercholesterolemia	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 212543867.	NM_000527.5(LDLR):c.670_672del (p.Asp224del) GRCh37: Chr19:11216252-11216254 GRCh38: Chr19:11105576-11105578	LDLR	D224del, D183del	Familial hypercholesterolemia	Pathogenic (Apr 12, 2022)	criteria provided, single submitter
Select item 212370068.	NM_000527.5(LDLR):c.1988-3dup GRCh37: Chr19:11231039-11231040 GRCh38: Chr19:11120363-11120364	LDLR		Familial hypercholesterolemia	Benign (Apr 11, 2022)	criteria provided, single submitter
Select item 212041669.	NM_000527.5(LDLR):c.663C>T (p.Asp221=) GRCh37: Chr19:11216245 GRCh38: Chr19:11105569	LDLR		Familial hypercholesterolemia	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 211834070.	NM_000527.5(LDLR):c.1166C>A (p.Thr389Lys) GRCh37: Chr19:11222295 GRCh38: Chr19:11111619	LDLR	T348K, T221K, T389K, T262K	Familial hypercholesterolemia	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 211786771.	NM_000527.5(LDLR):c.1086C>T (p.Asp362=) GRCh37: Chr19:11222215 GRCh38: Chr19:11111539	LDLR		Familial hypercholesterolemia	Likely benign (Apr 3, 2022)	criteria provided, single submitter
Select item 211466672.	NM_000527.5(LDLR):c.972C>T (p.Gly324=) GRCh37: Chr19:11221359 GRCh38: Chr19:11110683	LDLR		Familial hypercholesterolemia	Likely benign (Mar 22, 2022)	criteria provided, single submitter
Select item 211374873.	NM_000527.5(LDLR):c.987C>T (p.Cys329=) GRCh37: Chr19:11221374 GRCh38: Chr19:11110698	LDLR		Familial hypercholesterolemia	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 211359874.	NM_000527.5(LDLR):c.1911C>A (p.Ser637=) GRCh37: Chr19:11230833 GRCh38: Chr19:11120157	LDLR		Familial hypercholesterolemia	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 211315475.	NM_000527.5(LDLR):c.105A>G (p.Gln35=) GRCh37: Chr19:11210936 GRCh38: Chr19:11100260	LDLR		Familial hypercholesterolemia	Likely benign (Mar 16, 2022)	criteria provided, single submitter
Select item 211051576.	NM_000527.5(LDLR):c.2548-7T>C GRCh37: Chr19:11241950 GRCh38: Chr19:11131274	LDLR		Familial hypercholesterolemia	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 210993777.	NM_000527.5(LDLR):c.1102T>A (p.Cys368Ser) GRCh37: Chr19:11222231 GRCh38: Chr19:11111555	LDLR	C327S, C200S, C241S, C368S	Familial hypercholesterolemia	Pathogenic (Oct 25, 2022)	criteria provided, single submitter
Select item 210772478.	NM_000527.5(LDLR):c.873C>A (p.Thr291=) GRCh37: Chr19:11218123 GRCh38: Chr19:11107447	LDLR		Familial hypercholesterolemia	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 210626379.	NM_000527.4(LDLR):c.-158A>T GRCh37: Chr19:11200067 GRCh38: Chr19:11089391	LDLR, LDLR-AS1		Familial hypercholesterolemia	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 210599280.	NM_000527.5(LDLR):c.2091C>T (p.Ala697=) GRCh37: Chr19:11231149 GRCh38: Chr19:11120473	LDLR		Familial hypercholesterolemia	Likely benign (Mar 3, 2022)	criteria provided, single submitter
Select item 210582581.	NM_000527.5(LDLR):c.133G>A (p.Val45Ile) GRCh37: Chr19:11210964 GRCh38: Chr19:11100288	LDLR	V131I, V45I	Familial hypercholesterolemia	Uncertain significance (Mar 3, 2022)	criteria provided, single submitter
Select item 210467282.	NM_000527.5(LDLR):c.1187-4C>T GRCh37: Chr19:11223950 GRCh38: Chr19:11113274	LDLR		Familial hypercholesterolemia	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 210314783.	NM_000527.5(LDLR):c.1497T>C (p.Ser499=) GRCh37: Chr19:11224349 GRCh38: Chr19:11113673	LDLR		Familial hypercholesterolemia	Likely benign (Mar 6, 2022)	criteria provided, single submitter
Select item 210239384.	NM_000527.5(LDLR):c.111G>C (p.Gly37=) GRCh37: Chr19:11210942 GRCh38: Chr19:11100266	LDLR		Familial hypercholesterolemia	Likely benign (Mar 3, 2022)	criteria provided, single submitter
Select item 209929485.	NM_000527.5(LDLR):c.1433G>T (p.Gly478Val) GRCh37: Chr19:11224285 GRCh38: Chr19:11113609	LDLR	G478V, G310V, G351V, G437V	Familial hypercholesterolemia	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 209914286.	NM_000527.5(LDLR):c.386A>C (p.Asp129Ala) GRCh37: Chr19:11215968 GRCh38: Chr19:11105292	LDLR	D129A, D88A	Familial hypercholesterolemia	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 209907487.	NM_000527.5(LDLR):c.2381T>A (p.Leu794His) GRCh37: Chr19:11238753 GRCh38: Chr19:11128077	LDLR	L616H, L626H, L794H, L753H	Familial hypercholesterolemia	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 209702088.	NM_000527.5(LDLR):c.156C>T (p.Cys52=) GRCh37: Chr19:11210987 GRCh38: Chr19:11100311	LDLR		Familial hypercholesterolemia	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 209460789.	NM_000527.5(LDLR):c.1586+4C>A GRCh37: Chr19:11224442 GRCh38: Chr19:11113766	LDLR		Familial hypercholesterolemia	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 209454190.	NM_000527.5(LDLR):c.669G>A (p.Lys223=) GRCh37: Chr19:11216251 GRCh38: Chr19:11105575	LDLR		Familial hypercholesterolemia	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 209443691.	NM_000527.5(LDLR):c.466_471del (p.Asn156_Ser157del) GRCh37: Chr19:11216046-11216051 GRCh38: Chr19:11105370-11105375	LDLR		Familial hypercholesterolemia	Uncertain significance (Feb 7, 2022)	criteria provided, single submitter
Select item 209237892.	NM_000527.5(LDLR):c.1575T>C (p.Asp525=) GRCh37: Chr19:11224427 GRCh38: Chr19:11113751	LDLR		Familial hypercholesterolemia	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 209198193.	NM_000527.5(LDLR):c.667_677del (p.Cys222_Lys223insTer) GRCh37: Chr19:11216248-11216258 GRCh38: Chr19:11105572-11105582	LDLR		Familial hypercholesterolemia	Pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 209056194.	NM_000527.5(LDLR):c.2365G>T (p.Ala789Ser) GRCh37: Chr19:11238737 GRCh38: Chr19:11128061	LDLR	A611S, A789S, A621S, A748S	Familial hypercholesterolemia	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 208948295.	NM_000527.5(LDLR):c.1559G>T (p.Arg520Met) GRCh37: Chr19:11224411 GRCh38: Chr19:11113735	LDLR	R393M, R479M, R520M, R352M	Familial hypercholesterolemia	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 208706496.	NM_000527.5(LDLR):c.2298A>G (p.Thr766=) GRCh37: Chr19:11234007 GRCh38: Chr19:11123331	LDLR		Familial hypercholesterolemia	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 208423997.	NR_163945.1(LDLR-AS1):n.326T>G GRCh37: Chr19:11200010 GRCh38: Chr19:11089334	LDLR, LDLR-AS1		Familial hypercholesterolemia	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 208306898.	NM_000527.5(LDLR):c.373_383delinsAAGTGCA (p.Gln125fs) GRCh37: Chr19:11215955-11215965 GRCh38: Chr19:11105279-11105289	LDLR	Q125fs, Q84fs	Familial hypercholesterolemia	Pathogenic (Jan 15, 2022)	criteria provided, single submitter
Select item 207340199.	NM_000527.5(LDLR):c.314-9T>A GRCh37: Chr19:11215887 GRCh38: Chr19:11105211	LDLR		Familial hypercholesterolemia	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 2069202100.	NM_000527.5(LDLR):c.2061C>T (p.Ile687=) GRCh37: Chr19:11231119 GRCh38: Chr19:11120443	LDLR		Familial hypercholesterolemia	Likely benign (Jan 1, 2022)	criteria provided, single submitter

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