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

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 6512471.	NC_000019.10:g.(?_11100203)_(11107534_?)del GRCh37: Chr19:11210879-11218210 GRCh38: Chr19:11100203-11107534	LDLR		Familial hypercholesterolemia	Pathogenic (Aug 6, 2018)	criteria provided, single submitter
Select item 4566442.	NC_000019.9:g.(?_11210879)_(11222335_?)dup GRCh37: Chr19:11210879-11222335 GRCh38: Chr19:11100203-11111659	LDLR		Familial hypercholesterolemia, Hypercholesterolemia, familial, 1	Pathogenic (Sep 22, 2022)	criteria provided, single submitter
Select item 4566423.	NC_000019.10:g.(?_11100203)_(11102806_?)del GRCh37: Chr19:11210879-11213482 GRCh38: Chr19:11100203-11102806	LDLR		Hypercholesterolemia, familial, 1, Familial hypercholesterolemia	Pathogenic (Mar 8, 2022)	criteria provided, single submitter
Select item 6634294.	NC_000019.10:g.(?_11100213)_(11102796_?)del GRCh37: Chr19:11210889-11213472 GRCh38: Chr19:11100213-11102796	LDLR		Familial hypercholesterolemia	Pathogenic (Jul 26, 2019)	criteria provided, single submitter
Select item 6506995.	NC_000019.10:g.(?_11100213)_(11107528_?)del GRCh37: Chr19:11210889-11218204 GRCh38: Chr19:11100213-11107528	LDLR		Familial hypercholesterolemia	Pathogenic (Aug 13, 2021)	criteria provided, single submitter
Select item 2509916.	NM_000527.5(LDLR):c.68-5_68-2del GRCh37: Chr19:11210894-11210897 GRCh38: Chr19:11100218-11100221	LDLR		Hypercholesterolemia, familial, 1	Likely pathogenic (Mar 25, 2016)	criteria provided, single submitter
Select item 2509937.	NM_000527.5(LDLR):c.68-2A>T GRCh37: Chr19:11210897 GRCh38: Chr19:11100221	LDLR		Hypercholesterolemia, familial, 1, Cardiovascular phenotype, not provided	Pathogenic/Likely pathogenic (Jul 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2509928.	NM_000527.5(LDLR):c.68-2A>G GRCh37: Chr19:11210897 GRCh38: Chr19:11100221	LDLR		Hypercholesterolemia, familial, 1	Pathogenic/Likely pathogenic (Mar 25, 2016)	criteria provided, multiple submitters, no conflicts
Select item 5481019.	GRCh38/hg38 19p13.2(chr19:11100222-11102787)x1 GRCh37: Chr19:11210898-11213463 GRCh38: Chr19:11100222-11102787	LDLR		Hypercholesterolemia, familial, 1	Pathogenic (Jan 2, 2018)	criteria provided, single submitter
Select item 54809310.	GRCh38/hg38 19p13.2(chr19:11100222-11107515)x1 GRCh37: Chr19:11210898-11218191 GRCh38: Chr19:11100222-11107515	LDLR		Hypercholesterolemia, familial, 1	Pathogenic (Jan 2, 2018)	criteria provided, single submitter
Select item 36985811.	NM_000527.5(LDLR):c.68-1G>A GRCh37: Chr19:11210898 GRCh38: Chr19:11100222	LDLR		Familial hypercholesterolemia, Hypercholesterolemia, familial, 1	Pathogenic/Likely pathogenic (Feb 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25100512.	NM_000527.5(LDLR):c.68-1G>C GRCh37: Chr19:11210898 GRCh38: Chr19:11100222	LDLR		Cardiovascular phenotype, Familial hypercholesterolemia, not provided, Hypercholesterolemia, familial, 1	Pathogenic (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44053913.	NM_000527.5(LDLR):c.70_192del (p.Gly24_Leu64del) GRCh37: Chr19:11210899-11211021 GRCh38: Chr19:11100223-11100345	LDLR		Hypercholesterolemia, familial, 1	Pathogenic	no assertion criteria provided
Select item 25100814.	NM_000527.5(LDLR):c.77_78del (p.Arg26fs) GRCh37: Chr19:11210908-11210909 GRCh38: Chr19:11100231-11100232	LDLR	R26fs	Hypercholesterolemia, familial, 1	Pathogenic (Mar 25, 2016)	criteria provided, multiple submitters, no conflicts
Select item 25100715.	NM_000527.5(LDLR):c.76del (p.Arg26fs) GRCh37: Chr19:11210907 GRCh38: Chr19:11100231	LDLR	R26fs	Hypercholesterolemia, familial, 1	Pathogenic (Mar 25, 2016)	criteria provided, single submitter
Select item 25100616.	NM_000527.5(LDLR):c.76A>T (p.Arg26Ter) GRCh37: Chr19:11210907 GRCh38: Chr19:11100231	LDLR	R26*	Hypercholesterolemia, familial, 1	Pathogenic (Mar 25, 2016)	criteria provided, single submitter
Select item 92128517.	NM_000527.5(LDLR):c.79_81delinsCGT (p.Cys27Arg) GRCh37: Chr19:11210910-11210912 GRCh38: Chr19:11100234-11100236	LDLR	C27R	Familial hypercholesterolemia	Likely pathogenic (Mar 22, 2021)	criteria provided, single submitter
Select item 44054018.	NM_000527.5(LDLR):c.79T>C (p.Cys27Arg) GRCh37: Chr19:11210910 GRCh38: Chr19:11100234	LDLR	C27R	Familial hypercholesterolemia	Likely pathogenic (Jul 15, 2022)	criteria provided, single submitter
Select item 25100919.	NM_000527.5(LDLR):c.81C>A (p.Cys27Ter) GRCh37: Chr19:11210912 GRCh38: Chr19:11100236	LDLR	C27*	Cardiovascular phenotype, Familial hypercholesterolemia, Hypercholesterolemia, familial, 1	Pathogenic (Apr 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22630420.	NM_000527.5(LDLR):c.81C>G (p.Cys27Trp) GRCh37: Chr19:11210912 GRCh38: Chr19:11100236	LDLR	C27W	Hypercholesterolemia, familial, 1	Pathogenic (May 6, 2022)	reviewed by expert panel FDA Recognized Database
Select item 22630521.	NM_000527.5(LDLR):c.82G>T (p.Glu28Ter) GRCh37: Chr19:11210913 GRCh38: Chr19:11100237	LDLR	E28*	Hypercholesterolemia, familial, 1	Pathogenic (Mar 25, 2016)	criteria provided, single submitter
Select item 25101122.	NM_000527.5(LDLR):c.85A>T (p.Arg29Ter) GRCh37: Chr19:11210916 GRCh38: Chr19:11100240	LDLR	R29*	Hypercholesterolemia, familial, 1	Pathogenic (Mar 25, 2016)	criteria provided, single submitter
Select item 44054123.	NM_000527.5(LDLR):c.90_91insTGTGTTT (p.Glu31delinsCysValTer) GRCh37: Chr19:11210921-11210922 GRCh38: Chr19:11100245-11100246	LDLR		Hypercholesterolemia, familial, 1	Pathogenic	no assertion criteria provided
Select item 44117624.	NM_000527.5(LDLR):c.91_104del (p.Glu31fs) GRCh37: Chr19:11210922-11210935 GRCh38: Chr19:11100246-11100259	LDLR	E31fs	Hypercholesterolemia, familial, 1	Pathogenic (Mar 1, 2016)	criteria provided, single submitter
Select item 25101425.	NM_000527.5(LDLR):c.91G>T (p.Glu31Ter) GRCh37: Chr19:11210922 GRCh38: Chr19:11100246	LDLR	E31*	Cardiovascular phenotype, Familial hypercholesterolemia, Hypercholesterolemia, familial, 1	Pathogenic (Jun 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 25101526.	NM_000527.5(LDLR):c.93_99del (p.Glu31fs) GRCh37: Chr19:11210924-11210930 GRCh38: Chr19:11100248-11100254	LDLR	E31fs	Hypercholesterolemia, familial, 1	Pathogenic (Mar 25, 2016)	criteria provided, single submitter
Select item 25101627.	NM_000527.5(LDLR):c.95T>G (p.Phe32Cys) GRCh37: Chr19:11210926 GRCh38: Chr19:11100250	LDLR	F32C	Hypercholesterolemia, familial, 1	Likely pathogenic (Mar 25, 2016)	criteria provided, single submitter
Select item 145507228.	NM_000527.5(LDLR):c.97_115del (p.Gln33fs) GRCh37: Chr19:11210928-11210946 GRCh38: Chr19:11100252-11100270	LDLR	Q33fs	Familial hypercholesterolemia	Pathogenic (Sep 12, 2022)	criteria provided, single submitter
Select item 368329.	NM_000527.5(LDLR):c.97C>T (p.Gln33Ter) GRCh37: Chr19:11210928 GRCh38: Chr19:11100252	LDLR	Q33*	Hypercholesterolemia, familial, 1	Pathogenic (Apr 30, 2022)	reviewed by expert panel FDA Recognized Database
Select item 25101730.	NM_000527.5(LDLR):c.99del (p.Gln33fs) GRCh37: Chr19:11210930 GRCh38: Chr19:11100254	LDLR	Q33fs	Hypercholesterolemia, familial, 1	Pathogenic (Mar 25, 2016)	criteria provided, single submitter
Select item 25101831.	NM_000527.5(LDLR):c.100T>G (p.Cys34Gly) GRCh37: Chr19:11210931 GRCh38: Chr19:11100255	LDLR	C34G	Cardiovascular phenotype, Familial hypercholesterolemia, Hypercholesterolemia, familial, 1	Pathogenic/Likely pathogenic (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25101932.	NM_000527.5(LDLR):c.101G>C (p.Cys34Ser) GRCh37: Chr19:11210932 GRCh38: Chr19:11100256	LDLR	C34S	Hypercholesterolemia, familial, 1	Likely pathogenic (Mar 25, 2016)	criteria provided, single submitter
Select item 132121733.	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 112024834.	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 25102035.	NM_000527.5(LDLR):c.102C>A (p.Cys34Ter) GRCh37: Chr19:11210933 GRCh38: Chr19:11100257	LDLR	C34*	Hypercholesterolemia, familial, 1	Pathogenic (Mar 25, 2016)	criteria provided, single submitter
Select item 25102136.	NM_000527.5(LDLR):c.103C>T (p.Gln35Ter) GRCh37: Chr19:11210934 GRCh38: Chr19:11100258	LDLR	Q35*	Familial hypercholesterolemia, Hypercholesterolemia, familial, 1	Pathogenic (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 43831637.	NM_000527.5(LDLR):c.105_110del (p.Asp36_Gly37del) GRCh37: Chr19:11210936-11210941 GRCh38: Chr19:11100260-11100265	LDLR		Hypercholesterolemia, familial, 1	Likely pathogenic (Mar 1, 2016)	criteria provided, single submitter
Select item 168592338.	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 145583539.	NM_000527.5(LDLR):c.108_109insT (p.Gly37fs) GRCh37: Chr19:11210939-11210940 GRCh38: Chr19:11100263-11100264	LDLR	G37fs	Familial hypercholesterolemia	Pathogenic (Oct 19, 2021)	criteria provided, single submitter
Select item 25102340.	NM_000527.5(LDLR):c.108del (p.Asp36fs) GRCh37: Chr19:11210939 GRCh38: Chr19:11100263	LDLR	D36fs	Hypercholesterolemia, familial, 1	Pathogenic (Mar 25, 2016)	criteria provided, multiple submitters, no conflicts
Select item 25102441.	NM_000527.5(LDLR):c.114dup (p.Cys39fs) GRCh37: Chr19:11210945 GRCh38: Chr19:11100266-11100267	LDLR	C39fs	Hypercholesterolemia, familial, 1	Pathogenic (Mar 25, 2016)	criteria provided, multiple submitters, no conflicts
Select item 145489742.	NM_000527.5(LDLR):c.116dup (p.Cys39fs) GRCh37: Chr19:11210946-11210947 GRCh38: Chr19:11100270-11100271	LDLR	C39fs	Familial hypercholesterolemia	Pathogenic (Jun 30, 2021)	criteria provided, single submitter
Select item 43074643.	NM_000527.5(LDLR):c.116G>T (p.Cys39Phe) GRCh37: Chr19:11210947 GRCh38: Chr19:11100271	LDLR	C39F	Hypercholesterolemia, familial, 1	Pathogenic (Mar 30, 2017)	criteria provided, single submitter
Select item 25102544.	NM_000527.5(LDLR):c.116_117delinsAA (p.Cys39Ter) GRCh37: Chr19:11210947-11210948 GRCh38: Chr19:11100271-11100272	LDLR	C39*	Hypercholesterolemia, familial, 1	Pathogenic (May 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 244112445.	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 25102646.	NM_000527.5(LDLR):c.117del (p.Lys38_Cys39insTer) GRCh37: Chr19:11210948 GRCh38: Chr19:11100272	LDLR		Hypercholesterolemia, familial, 1	Pathogenic (Mar 25, 2016)	criteria provided, multiple submitters, no conflicts
Select item 25102747.	NM_000527.5(LDLR):c.118del (p.Ile40fs) GRCh37: Chr19:11210949 GRCh38: Chr19:11100273	LDLR	I40fs	Hypercholesterolemia, familial, 1	Pathogenic (Mar 25, 2016)	criteria provided, single submitter
Select item 37577448.	NM_000527.5(LDLR):c.126C>G (p.Tyr42Ter) GRCh37: Chr19:11210957 GRCh38: Chr19:11100281	LDLR	Y42*	Hypercholesterolemia, familial, 1	Pathogenic (Dec 16, 2016)	criteria provided, single submitter
Select item 25102849.	NM_000527.5(LDLR):c.126C>A (p.Tyr42Ter) GRCh37: Chr19:11210957 GRCh38: Chr19:11100281	LDLR	Y42*	Familial hypercholesterolemia, Hypercholesterolemia, familial, 1	Pathogenic (Nov 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 25102950.	NM_000527.5(LDLR):c.132_133dup (p.Val45fs) GRCh37: Chr19:11210961-11210962 GRCh38: Chr19:11100285-11100286	LDLR	V45fs	Hypercholesterolemia, familial, 1	Pathogenic (Mar 25, 2016)	criteria provided, single submitter
Select item 374151.	NM_000527.5(LDLR):c.131G>A (p.Trp44Ter) GRCh37: Chr19:11210962 GRCh38: Chr19:11100286	LDLR	W44*	Homozygous familial hypercholesterolemia, Cardiovascular phenotype, Familial hypercholesterolemia, not provided, Hypercholesterolemia, familial, 1	Pathogenic/Likely pathogenic (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44054552.	NM_000527.5(LDLR):c.132G>A (p.Trp44Ter) GRCh37: Chr19:11210963 GRCh38: Chr19:11100287	LDLR	W44*	Cardiovascular phenotype	Pathogenic (May 3, 2022)	criteria provided, single submitter
Select item 177081753.	NM_000527.5(LDLR):c.136_142del (p.Cys46fs) GRCh37: Chr19:11210967-11210973 GRCh38: Chr19:11100291-11100297	LDLR	C46fs	Cardiovascular phenotype	Pathogenic (Mar 3, 2020)	criteria provided, single submitter
Select item 25103054.	NM_000527.5(LDLR):c.136T>G (p.Cys46Gly) GRCh37: Chr19:11210967 GRCh38: Chr19:11100291	LDLR	C46G	Hypercholesterolemia, familial, 1	Pathogenic/Likely pathogenic (Jul 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 25103355.	NM_000527.5(LDLR):c.139_144del (p.Asp47_Gly48del) GRCh37: Chr19:11210970-11210975 GRCh38: Chr19:11100292-11100297	LDLR		Hypercholesterolemia, familial, 1	Likely pathogenic (Mar 25, 2016)	criteria provided, multiple submitters, no conflicts
Select item 25103156.	NM_000527.5(LDLR):c.137G>A (p.Cys46Tyr) GRCh37: Chr19:11210968 GRCh38: Chr19:11100292	LDLR	C46Y	Hypercholesterolemia, familial, 1	Likely pathogenic (Mar 25, 2016)	criteria provided, single submitter
Select item 374257.	NM_000527.5(LDLR):c.137G>C (p.Cys46Ser) GRCh37: Chr19:11210968 GRCh38: Chr19:11100292	LDLR	C46S	Hypercholesterolemia, familial, 1	Likely pathogenic (Mar 25, 2016)	criteria provided, multiple submitters, no conflicts
Select item 25103258.	NM_000527.5(LDLR):c.138C>A (p.Cys46Ter) GRCh37: Chr19:11210969 GRCh38: Chr19:11100293	LDLR	C46*	Hypercholesterolemia, familial, 1	Pathogenic (Mar 25, 2016)	criteria provided, single submitter
Select item 44117959.	NM_000527.5(LDLR):c.140_153del (p.Asp47fs) GRCh37: Chr19:11210970-11210983 GRCh38: Chr19:11100294-11100307	LDLR	D47fs	Hypercholesterolemia, familial, 1	Pathogenic (Mar 1, 2016)	criteria provided, single submitter
Select item 25103660.	NM_000527.5(LDLR):c.148del (p.Ala50fs) GRCh37: Chr19:11210979 GRCh38: Chr19:11100303	LDLR	A50fs	Hypercholesterolemia, familial, 1	Pathogenic (Mar 25, 2016)	criteria provided, single submitter
Select item 25103861.	NM_000527.5(LDLR):c.155G>A (p.Cys52Tyr) GRCh37: Chr19:11210986 GRCh38: Chr19:11100310	LDLR	C52Y	Hypercholesterolemia, familial, 1	Pathogenic/Likely pathogenic (Mar 30, 2017)	criteria provided, multiple submitters, no conflicts
Select item 25103962.	NM_000527.5(LDLR):c.157C>T (p.Gln53Ter) GRCh37: Chr19:11210988 GRCh38: Chr19:11100312	LDLR	Q53*	Familial hypercholesterolemia, Hypercholesterolemia, familial, 1	Pathogenic (Oct 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 23786463.	NM_000527.5(LDLR):c.166T>C (p.Ser56Pro) GRCh37: Chr19:11210997 GRCh38: Chr19:11100321	LDLR	S56P	Hypercholesterolemia, familial, 1, Familial hypercholesterolemia	Pathogenic/Likely pathogenic (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44054764.	NM_000527.5(LDLR):c.172G>T (p.Glu58Ter) GRCh37: Chr19:11211003 GRCh38: Chr19:11100327	LDLR	E58*	not provided, Familial hypercholesterolemia, Hypercholesterolemia, familial, 1	Pathogenic/Likely pathogenic (Nov 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25104365.	NM_000527.5(LDLR):c.172G>A (p.Glu58Lys) GRCh37: Chr19:11211003 GRCh38: Chr19:11100327	LDLR	E58K	Hypercholesterolemia, familial, 1	Likely pathogenic (Mar 25, 2016)	criteria provided, single submitter
Select item 25104266.	NM_000527.5(LDLR):c.172del (p.Glu58fs) GRCh37: Chr19:11211003 GRCh38: Chr19:11100327	LDLR	E58fs	Hypercholesterolemia, familial, 1	Pathogenic (Mar 25, 2016)	criteria provided, single submitter
Select item 25104467.	NM_000527.5(LDLR):c.173A>G (p.Glu58Gly) GRCh37: Chr19:11211004 GRCh38: Chr19:11100328	LDLR	E58G	Hypercholesterolemia, familial, 1	Likely pathogenic (Mar 25, 2016)	criteria provided, single submitter
Select item 43074768.	NM_000527.5(LDLR):c.178del (p.Gln60fs) GRCh37: Chr19:11211007 GRCh38: Chr19:11100331	LDLR	Q60fs	Hypercholesterolemia, familial, 1	Pathogenic (Mar 30, 2017)	criteria provided, single submitter
Select item 20092469.	NM_000527.5(LDLR):c.178C>T (p.Gln60Ter) GRCh37: Chr19:11211009 GRCh38: Chr19:11100333	LDLR	Q60*	Hypercholesterolemia, familial, 1	Pathogenic	no assertion criteria provided
Select item 122054870.	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 25104571.	NM_000527.5(LDLR):c.185_186insT (p.Cys63fs) GRCh37: Chr19:11211016-11211017 GRCh38: Chr19:11100340-11100341	LDLR	C63fs	Hypercholesterolemia, familial, 1	Pathogenic (Mar 25, 2016)	criteria provided, single submitter
Select item 25104672.	NM_000527.5(LDLR):c.187T>C (p.Cys63Arg) GRCh37: Chr19:11211018 GRCh38: Chr19:11100342	LDLR	C63R	Hypercholesterolemia, familial, 1	Pathogenic/Likely pathogenic (May 11, 2019)	criteria provided, multiple submitters, no conflicts
Select item 44054873.	NM_000527.5(LDLR):c.188G>T (p.Cys63Phe) GRCh37: Chr19:11211019 GRCh38: Chr19:11100343	LDLR	C63F	Hypercholesterolemia, familial, 1	Pathogenic	no assertion criteria provided
Select item 25105074.	NM_000527.4(LDLR):c.190+2_190+3dup GRCh37: Chr19:11211020-11211021 GRCh38: Chr19:11100344-11100345	LDLR		Hypercholesterolemia, familial, 1	Pathogenic/Likely pathogenic (Mar 25, 2016)	criteria provided, multiple submitters, no conflicts
Select item 152025875.	NM_000527.5(LDLR):c.190+2_190+3del GRCh37: Chr19:11211021-11211022 GRCh38: Chr19:11100345-11100346	LDLR		Familial hypercholesterolemia	Likely pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 25104976.	NM_000527.5(LDLR):c.190+1G>T GRCh37: Chr19:11211022 GRCh38: Chr19:11100346	LDLR		Hypercholesterolemia, familial, 1	Likely pathogenic (Mar 25, 2016)	criteria provided, single submitter
Select item 25104877.	NM_000527.5(LDLR):c.190+1G>A GRCh37: Chr19:11211022 GRCh38: Chr19:11100346	LDLR		Cardiovascular phenotype, Familial hypercholesterolemia, Hypercholesterolemia, familial, 1	Pathogenic/Likely pathogenic (Jul 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 371378.	FH Vancouver 3 GRCh37: Chr19:11211022-11223953 GRCh38: Chr19:11100346-11113277	LDLR		Hypercholesterolemia, familial, 1	Pathogenic (Mar 25, 2016)	criteria provided, single submitter
Select item 25105179.	NM_000527.5(LDLR):c.190+2T>G GRCh37: Chr19:11211023 GRCh38: Chr19:11100347	LDLR		Hypercholesterolemia, familial, 1	Likely pathogenic (Mar 25, 2016)	criteria provided, single submitter
Select item 22509780.	NM_000527.5(LDLR):c.190+4A>T GRCh37: Chr19:11211025 GRCh38: Chr19:11100349	LDLR		Hypercholesterolemia, familial, 1	Likely pathogenic (Feb 9, 2022)	reviewed by expert panel FDA Recognized Database
Select item 94822281.	NM_000527.5(LDLR):c.191-732_740del GRCh37: Chr19:11212605-11217283 GRCh38: Chr19:11101929-11106607	LDLR		Familial hypercholesterolemia	Pathogenic (Nov 1, 2019)	criteria provided, single submitter
Select item 25105582.	NM_000527.5(LDLR):c.191-512_940+631del GRCh37: Chr19:11212821-11218814 GRCh38: Chr19:11102145-11108138	LDLR		Hypercholesterolemia, familial, 1	Pathogenic (Mar 25, 2016)	criteria provided, single submitter
Select item 58407983.	NC_000019.10:g.(?_11102644)_(11107534_?)del GRCh37: Chr19:11213320-11218210 GRCh38: Chr19:11102644-11107534	LDLR		Hypercholesterolemia, familial, 1, Familial hypercholesterolemia	Pathogenic (Nov 21, 2021)	criteria provided, single submitter
Select item 25105784.	NM_000527.5(LDLR):c.191-2delinsCT GRCh37: Chr19:11213338 GRCh38: Chr19:11102662	LDLR		Hypercholesterolemia, familial, 1	Pathogenic/Likely pathogenic (Mar 25, 2016)	criteria provided, multiple submitters, no conflicts
Select item 22630685.	NM_000527.5(LDLR):c.191-2A>G GRCh37: Chr19:11213338 GRCh38: Chr19:11102662	LDLR		Hypercholesterolemia, familial, 1, Familial hypercholesterolemia, Cardiovascular phenotype	Pathogenic/Likely pathogenic (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54810086.	GRCh38/hg38 19p13.2(chr19:11102663-11107515)x1 GRCh37: Chr19:11213339-11218191 GRCh38: Chr19:11102663-11107515	LDLR		Hypercholesterolemia, familial, 1	Pathogenic (Jan 2, 2018)	criteria provided, single submitter
Select item 44055087.	NM_000527.5(LDLR):c.191-1G>T GRCh37: Chr19:11213339 GRCh38: Chr19:11102663	LDLR		Familial hypercholesterolemia	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 25107188.	NM_000527.5(LDLR):c.191-1G>A GRCh37: Chr19:11213339 GRCh38: Chr19:11102663	LDLR		Cardiovascular phenotype, Familial hypercholesterolemia, Hypercholesterolemia, familial, 1	Pathogenic/Likely pathogenic (Sep 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 37577689.	NM_000527.5(LDLR):c.191T>A (p.Leu64Ter) GRCh37: Chr19:11213340 GRCh38: Chr19:11102664	LDLR	L64*	Hypercholesterolemia, familial, 1	Pathogenic (Dec 16, 2016)	criteria provided, single submitter
Select item 178287390.	NM_000527.5(LDLR):c.193_202delinsGGACTTCA (p.Ser65fs) GRCh37: Chr19:11213342-11213351 GRCh38: Chr19:11102666-11102675	LDLR	S65fs	Cardiovascular phenotype	Pathogenic (Jun 8, 2022)	criteria provided, single submitter
Select item 25107291.	NM_000527.5(LDLR):c.193_201delinsGACTTCA (p.Ser65fs) GRCh37: Chr19:11213342-11213350 GRCh38: Chr19:11102666-11102674	LDLR	S65fs	Hypercholesterolemia, familial, 1	Pathogenic (Mar 25, 2016)	criteria provided, single submitter
Select item 25107592.	NM_000527.5(LDLR):c.195dup (p.Val66fs) GRCh37: Chr19:11213344 GRCh38: Chr19:11102667-11102668	LDLR	V66fs	Hypercholesterolemia, familial, 1	Pathogenic (Mar 25, 2016)	criteria provided, single submitter
Select item 25107493.	NM_000527.5(LDLR):c.195_196insAT (p.Val66fs) GRCh37: Chr19:11213344-11213345 GRCh38: Chr19:11102667-11102668	LDLR	V66fs	Cardiovascular phenotype, Hypercholesterolemia, familial, 1, Familial hypercholesterolemia	Pathogenic (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25107394.	NM_000527.5(LDLR):c.195_196insA (p.Val66fs) GRCh37: Chr19:11213344-11213345 GRCh38: Chr19:11102668-11102669	LDLR	V66fs	Hypercholesterolemia, familial, 1	Pathogenic (Mar 25, 2016)	criteria provided, single submitter
Select item 22630795.	NM_000527.5(LDLR):c.196_197del (p.Val66fs) GRCh37: Chr19:11213345-11213346 GRCh38: Chr19:11102668-11102669	LDLR	V66fs	Familial hypercholesterolemia, Hypercholesterolemia, familial, 1	Pathogenic (Mar 27, 2018)	criteria provided, multiple submitters, no conflicts
Select item 25107696.	NM_000527.5(LDLR):c.199dup (p.Thr67fs) GRCh37: Chr19:11213348 GRCh38: Chr19:11102671-11102672	LDLR	T67fs	Hypercholesterolemia, familial, 1	Pathogenic (Mar 25, 2016)	criteria provided, single submitter
Select item 25107797.	NM_000527.5(LDLR):c.204C>A (p.Cys68Ter) GRCh37: Chr19:11213353 GRCh38: Chr19:11102677	LDLR	C68*	Familial hypercholesterolemia, Hypercholesterolemia, familial, 1	Pathogenic (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 25107898.	NM_000527.5(LDLR):c.214del (p.Asp72fs) GRCh37: Chr19:11213360 GRCh38: Chr19:11102684	LDLR	D72fs	Cardiovascular phenotype, not provided, Familial hypercholesterolemia, Hypercholesterolemia, familial, 1	Pathogenic (Oct 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 25107999.	NM_000527.5(LDLR):c.223T>A (p.Cys75Ser) GRCh37: Chr19:11213372 GRCh38: Chr19:11102696	LDLR	C75S	Cardiovascular phenotype, Familial hypercholesterolemia, not provided, Hypercholesterolemia, familial, 1	Pathogenic/Likely pathogenic (Sep 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 226308100.	NM_000527.5(LDLR):c.224G>A (p.Cys75Tyr) GRCh37: Chr19:11213373 GRCh38: Chr19:11102697	LDLR	C75Y	Hypercholesterolemia, familial, 1, Cardiovascular phenotype	Likely pathogenic (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts

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