ClinVar for MedGen (Select 7352) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24441521.	NM_000237.3(LPL):c.550C>T (p.Pro184Ser) GRCh37: Chr8:19811639 GRCh38: Chr8:19954128	LPL	P184S	Hyperlipoproteinemia, type I	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 24317692.	NM_197968.4(ZMYM2):c.2003C>G (p.Ser668Ter) GRCh37: Chr13:20608428 GRCh38: Chr13:20034288	ZMYM2	S581, S603, S668*	Hyperlipoproteinemia, type I	Likely pathogenic (Jun 6, 2022)	criteria provided, single submitter
Select item 24297743.	NM_000237.3(LPL):c.818A>C (p.His273Pro) GRCh37: Chr8:19813394 GRCh38: Chr8:19955883	LPL	H273P	Hyperlipoproteinemia, type I	Pathogenic	no assertion criteria provided
Select item 24297414.	NM_000237.3(LPL):c.925del (p.Arg309fs) GRCh37: Chr8:19813500 GRCh38: Chr8:19955989	LPL	R309fs	Hyperlipoproteinemia, type I	Pathogenic	no assertion criteria provided
Select item 16932645.	NM_000237.3(LPL):c.1019-2A>T GRCh37: Chr8:19816769 GRCh38: Chr8:19959258	LPL		Cardiovascular phenotype	Pathogenic (Dec 23, 2021)	criteria provided, single submitter
Select item 16848616.	NM_000237.3(LPL):c.373G>A (p.Ala125Thr) GRCh37: Chr8:19809403 GRCh38: Chr8:19951892	LPL	A125T	Hyperlipidemia, familial combined, LPL related, Hyperlipoproteinemia, type I, not specified	Uncertain significance (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13662167.	NM_000237.3(LPL):c.688del (p.Val230fs) GRCh37: Chr8:19811777 GRCh38: Chr8:19954266	LPL	V230fs	not provided, Hyperlipidemia, familial combined, LPL related, Hyperlipoproteinemia, type I	Pathogenic/Likely pathogenic (Sep 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13434548.	NM_000237.3(LPL):c.1123A>G (p.Asn375Asp) GRCh37: Chr8:19816875 GRCh38: Chr8:19959364	LPL	N375D	not specified, Hyperlipidemia, familial combined, LPL related, Hyperlipoproteinemia, type I	Uncertain significance (Feb 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13390479.	NM_000237.3(LPL):c.242G>A (p.Gly81Asp) GRCh37: Chr8:19805844 GRCh38: Chr8:19948333	LPL	G81D	Hyperlipoproteinemia, type I, Hyperlipidemia, familial combined, LPL related	Pathogenic/Likely pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 131422010.	NM_000237.3(LPL):c.885A>C (p.Glu295Asp) GRCh37: Chr8:19813461 GRCh38: Chr8:19955950	LPL	E295D	Hyperlipoproteinemia, type I, Hyperlipidemia, familial combined, LPL related, not provided	Uncertain significance (Jan 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 123616711.	NM_000237.3(LPL):c.721C>T (p.Pro241Ser) GRCh37: Chr8:19811810 GRCh38: Chr8:19954299	LPL	P241S	Hyperlipoproteinemia, type I	Likely pathogenic	criteria provided, single submitter
Select item 122734512.	NM_000237.3(LPL):c.1018+82C>A GRCh37: Chr8:19813676 GRCh38: Chr8:19956165	LPL		not provided	Benign (Aug 30, 2018)	criteria provided, single submitter
Select item 121042713.	NM_000237.3(LPL):c.132G>T (p.Arg44Ser) GRCh37: Chr8:19805734 GRCh38: Chr8:19948223	LPL	R44S	Hyperlipoproteinemia, type I	Uncertain significance (Jul 22, 2021)	criteria provided, single submitter
Select item 121034114.	NM_000237.3(LPL):c.347G>A (p.Arg116Gln) GRCh37: Chr8:19809377 GRCh38: Chr8:19951866	LPL	R116Q	Hyperlipoproteinemia, type I	Likely pathogenic (Jul 22, 2021)	criteria provided, single submitter
Select item 120959815.	NM_000237.3(LPL):c.190G>A (p.Val64Met) GRCh37: Chr8:19805792 GRCh38: Chr8:19948281	LPL	V64M	not specified, Hyperlipoproteinemia, type I	Uncertain significance (Aug 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120959716.	NM_000237.3(LPL):c.1394G>C (p.Cys465Ser) GRCh37: Chr8:19819697 GRCh38: Chr8:19962186	LPL	C465S	Hyperlipoproteinemia, type I	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 120957717.	NM_000237.3(LPL):c.1401C>A (p.Asp467Glu) GRCh37: Chr8:19819704 GRCh38: Chr8:19962193	LPL	D467E	Hyperlipoproteinemia, type I	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 120304218.	NM_000237.3(LPL):c.292G>A (p.Ala98Thr) GRCh37: Chr8:19809322 GRCh38: Chr8:19951811	LPL	A98T	Cardiovascular phenotype, not provided, Hyperlipoproteinemia, type I, Hyperlipidemia, familial combined, LPL related, Hyperlipoproteinemia, type I	Likely pathogenic (Nov 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116581019.	NM_000237.3(LPL):c.1018+34A>G GRCh37: Chr8:19813628 GRCh38: Chr8:19956117	LPL		not provided, Hyperlipoproteinemia, type I, Hyperlipidemia, familial combined, LPL related	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 115305220.	NM_000237.3(LPL):c.744T>C (p.Ala248=) GRCh37: Chr8:19811833 GRCh38: Chr8:19954322	LPL		not provided	Likely benign (Jul 18, 2020)	criteria provided, single submitter
Select item 114368221.	NM_000237.3(LPL):c.72G>C (p.Gly24=) GRCh37: Chr8:19797023 GRCh38: Chr8:19939512	LPL		not provided	Likely benign (Aug 22, 2019)	criteria provided, single submitter
Select item 106663622.	NM_000237.3(LPL):c.805G>A (p.Glu269Lys) GRCh37: Chr8:19813381 GRCh38: Chr8:19955870	LPL	E269K	Cardiovascular phenotype, not provided	Pathogenic (Jun 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106663523.	NM_000237.3(LPL):c.547G>A (p.Asp183Asn) GRCh37: Chr8:19811636 GRCh38: Chr8:19954125	LPL	D183N	not provided, Hyperlipoproteinemia, type I, Hyperlipidemia, familial combined, LPL related	Pathogenic/Likely pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103069024.	NM_000237.3(LPL):c.991A>G (p.Lys331Glu) GRCh37: Chr8:19813567 GRCh38: Chr8:19956056	LPL	K331E	Hyperlipoproteinemia, type I	Likely pathogenic (Jun 3, 2020)	criteria provided, single submitter
Select item 103068925.	NM_000237.3(LPL):c.487C>T (p.His163Tyr) GRCh37: Chr8:19810878 GRCh38: Chr8:19953367	LPL	H163Y	Hyperlipoproteinemia, type I	Uncertain significance (Jul 16, 2019)	criteria provided, single submitter
Select item 99595726.	NM_000237.3(LPL):c.765_766del (p.Gly256fs) GRCh37: Chr8:19811848-19811849 GRCh38: Chr8:19954337-19954338	LPL	G256fs	not provided, Hyperlipoproteinemia, type I	Pathogenic (Jun 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99126627.	NM_000237.3(LPL):c.1234G>A (p.Asp412Asn) GRCh37: Chr8:19818506 GRCh38: Chr8:19960995	LPL	D412N	Hyperlipoproteinemia, type I	Uncertain significance (Jun 25, 2020)	no assertion criteria provided
Select item 99126528.	NM_000237.3(LPL):c.1207C>T (p.Leu403Phe) GRCh37: Chr8:19818479 GRCh38: Chr8:19960968	LPL	L403F	Hyperlipoproteinemia, type I	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 99126429.	NM_000237.3(LPL):c.313G>A (p.Asp105Asn) GRCh37: Chr8:19809343 GRCh38: Chr8:19951832	LPL	D105N	Hyperlipoproteinemia, type I	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 99126330.	NM_000237.3(LPL):c.84C>G (p.Ala28=) GRCh37: Chr8:19797035 GRCh38: Chr8:19939524	LPL		not provided	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 98567131.	NM_000237.3(LPL):c.1051G>A (p.Gly351Arg) GRCh37: Chr8:19816803 GRCh38: Chr8:19959292	LPL	G351R	Inborn genetic diseases, not provided, Cardiovascular phenotype	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97902132.	NM_000237.3(LPL):c.929G>A (p.Cys310Tyr) GRCh37: Chr8:19813505 GRCh38: Chr8:19955994	LPL	C310Y	Hyperlipidemia, familial combined, LPL related	Likely pathogenic (Jun 11, 2020)	criteria provided, single submitter
Select item 97832533.	NM_001371904.1(APOA5):c.494G>C (p.Gly165Ala) GRCh37: Chr11:116661451 GRCh38: Chr11:116790735	APOA5	G165A	Hyperlipoproteinemia, type I	Uncertain significance (Mar 5, 2020)	criteria provided, single submitter
Select item 97358834.	NM_000237.3(LPL):c.1160_1161insT (p.Lys387fs) GRCh37: Chr8:19818432-19818433 GRCh38: Chr8:19960921-19960922	LPL	K387fs	Hyperlipoproteinemia, type I	Likely pathogenic	criteria provided, single submitter
Select item 97358735.	NM_000237.3(LPL):c.1139+1G>A GRCh37: Chr8:19816892 GRCh38: Chr8:19959381	LPL		Hyperlipoproteinemia, type I, Cardiovascular phenotype	Likely pathogenic (Aug 22, 2019)	criteria provided, multiple submitters, no conflicts
Select item 91178636.	NM_000237.3(LPL):c.*1928T>C GRCh37: Chr8:19824749 GRCh38: Chr8:19967238	LPL		Hyperlipoproteinemia, type I	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 91178537.	NM_000237.3(LPL):c.*1891T>C GRCh37: Chr8:19824712 GRCh38: Chr8:19967201	LPL		Hyperlipoproteinemia, type I	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91178438.	NM_000237.3(LPL):c.*1886G>A GRCh37: Chr8:19824707 GRCh38: Chr8:19967196	LPL		Hyperlipoproteinemia, type I	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91178339.	NM_000237.3(LPL):c.*1854T>C GRCh37: Chr8:19824675 GRCh38: Chr8:19967164	LPL		Hyperlipoproteinemia, type I	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91171440.	NM_000237.3(LPL):c.*1048A>C GRCh37: Chr8:19823869 GRCh38: Chr8:19966358	LPL		Hyperlipoproteinemia, type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91171341.	NM_000237.3(LPL):c.*903C>T GRCh37: Chr8:19823724 GRCh38: Chr8:19966213	LPL		Hyperlipoproteinemia, type I	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91164942.	NM_000237.3(LPL):c.1373C>T (p.Ala458Val) GRCh37: Chr8:19819676 GRCh38: Chr8:19962165	LPL	A458V	Cardiovascular phenotype, Hyperlipoproteinemia, type I	Uncertain significance (Sep 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91164843.	NM_000237.3(LPL):c.1196T>C (p.Ile399Thr) GRCh37: Chr8:19818468 GRCh38: Chr8:19960957	LPL	I399T	Cardiovascular phenotype, Hyperlipoproteinemia, type I	Uncertain significance (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91158544.	NM_000237.3(LPL):c.-101C>T GRCh37: Chr8:19796851 GRCh38: Chr8:19939340	LPL		Hyperlipoproteinemia, type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91054645.	NM_000237.3(LPL):c.*1797G>A GRCh37: Chr8:19824618 GRCh38: Chr8:19967107	LPL		Hyperlipoproteinemia, type I	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91054546.	NM_000237.3(LPL):c.*1793G>A GRCh37: Chr8:19824614 GRCh38: Chr8:19967103	LPL		Hyperlipoproteinemia, type I	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91054447.	NM_000237.3(LPL):c.*1788T>C GRCh37: Chr8:19824609 GRCh38: Chr8:19967098	LPL		Hyperlipoproteinemia, type I	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91054348.	NM_000237.3(LPL):c.*1749T>C GRCh37: Chr8:19824570 GRCh38: Chr8:19967059	LPL		Hyperlipoproteinemia, type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91054249.	NM_000237.3(LPL):c.*1743G>A GRCh37: Chr8:19824564 GRCh38: Chr8:19967053	LPL		Hyperlipoproteinemia, type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91048350.	NM_000237.3(LPL):c.*831G>A GRCh37: Chr8:19823652 GRCh38: Chr8:19966141	LPL		Hyperlipoproteinemia, type I	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91048251.	NM_000237.3(LPL):c.*729A>G GRCh37: Chr8:19823550 GRCh38: Chr8:19966039	LPL		Hyperlipoproteinemia, type I	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91042152.	NM_000237.3(LPL):c.648C>T (p.Ser216=) GRCh37: Chr8:19811737 GRCh38: Chr8:19954226	LPL		not provided, Hyperlipoproteinemia, type I	Conflicting interpretations of pathogenicity (Jun 1, 2022)	criteria provided, conflicting interpretations
Select item 91042053.	NM_000237.3(LPL):c.501T>C (p.Ile167=) GRCh37: Chr8:19810892 GRCh38: Chr8:19953381	LPL		not provided, Hyperlipoproteinemia, type I	Conflicting interpretations of pathogenicity (Feb 5, 2022)	criteria provided, conflicting interpretations
Select item 90961454.	NM_000237.3(LPL):c.*1547T>A GRCh37: Chr8:19824368 GRCh38: Chr8:19966857	LPL		Hyperlipoproteinemia, type I	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90961355.	NM_000237.3(LPL):c.*1414C>T GRCh37: Chr8:19824235 GRCh38: Chr8:19966724	LPL		Hyperlipoproteinemia, type I	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90961256.	NM_000237.3(LPL):c.*1399G>A GRCh37: Chr8:19824220 GRCh38: Chr8:19966709	LPL		Hyperlipoproteinemia, type I	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90961157.	NM_000237.3(LPL):c.*1394A>C GRCh37: Chr8:19824215 GRCh38: Chr8:19966704	LPL		Hyperlipoproteinemia, type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90955558.	NM_000237.3(LPL):c.*648A>T GRCh37: Chr8:19823469 GRCh38: Chr8:19965958	LPL		Hyperlipoproteinemia, type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90955459.	NM_000237.3(LPL):c.*547T>C GRCh37: Chr8:19823368 GRCh38: Chr8:19965857	LPL		Hyperlipoproteinemia, type I	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90955360.	NM_000237.3(LPL):c.*455C>A GRCh37: Chr8:19823276 GRCh38: Chr8:19965765	LPL		Hyperlipoproteinemia, type I	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 90955261.	NM_000237.3(LPL):c.*389C>G GRCh37: Chr8:19823210 GRCh38: Chr8:19965699	LPL		Hyperlipoproteinemia, type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90949062.	NM_000237.3(LPL):c.439A>C (p.Asn147His) GRCh37: Chr8:19810830 GRCh38: Chr8:19953319	LPL	N147H	Hyperlipoproteinemia, type I	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90875963.	NM_000237.3(LPL):c.*1387T>C GRCh37: Chr8:19824208 GRCh38: Chr8:19966697	LPL		Hyperlipoproteinemia, type I	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 90875864.	NM_000237.3(LPL):c.*1373G>A GRCh37: Chr8:19824194 GRCh38: Chr8:19966683	LPL		Hyperlipoproteinemia, type I	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90869965.	NM_000237.3(LPL):c.*221C>T GRCh37: Chr8:19823042 GRCh38: Chr8:19965531	LPL		Hyperlipoproteinemia, type I	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90869866.	NM_000237.3(LPL):c.*135C>A GRCh37: Chr8:19822956 GRCh38: Chr8:19965445	LPL		Hyperlipoproteinemia, type I	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 90869767.	NM_000237.3(LPL):c.*29G>A GRCh37: Chr8:19822850 GRCh38: Chr8:19965339	LPL		Hyperlipoproteinemia, type I	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 90869668.	NM_000237.3(LPL):c.1427+15C>A GRCh37: Chr8:19819745 GRCh38: Chr8:19962234	LPL		Hyperlipoproteinemia, type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90863569.	NM_000237.3(LPL):c.249G>A (p.Thr83=) GRCh37: Chr8:19805851 GRCh38: Chr8:19948340	LPL		Hyperlipoproteinemia, type I	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 90863470.	NM_000237.3(LPL):c.134C>A (p.Thr45Asn) GRCh37: Chr8:19805736 GRCh38: Chr8:19948225	LPL	T45N	not provided, Hyperlipoproteinemia, type I, not specified	Uncertain significance (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90863371.	NM_000237.3(LPL):c.81C>A (p.Ala27=) GRCh37: Chr8:19797032 GRCh38: Chr8:19939521	LPL		Cardiovascular phenotype, Hyperlipoproteinemia, type I, not provided	Conflicting interpretations of pathogenicity (Aug 24, 2022)	criteria provided, conflicting interpretations
Select item 90863272.	NM_000237.3(LPL):c.36C>A (p.Ala12=) GRCh37: Chr8:19796987 GRCh38: Chr8:19939476	LPL		Hyperlipoproteinemia, type I	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 85558873.	NM_000237.3(LPL):c.835C>G (p.Leu279Val) GRCh37: Chr8:19813411 GRCh38: Chr8:19955900	LPL	L279V	not provided, Hyperlipidemia, familial combined, LPL related, Hyperlipoproteinemia, type I, Hyperlipoproteinemia, type I	Pathogenic (Nov 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85123674.	NM_000237.3(LPL):c.836T>G (p.Leu279Arg) GRCh37: Chr8:19813412 GRCh38: Chr8:19955901	LPL	L279R	not provided, Hyperlipoproteinemia, type I	Pathogenic (Jun 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 79967175.	NM_000237.3(LPL):c.1344G>A (p.Glu448=) GRCh37: Chr8:19819647 GRCh38: Chr8:19962136	LPL		not provided	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 79613376.	NM_000237.3(LPL):c.111C>T (p.Ile37=) GRCh37: Chr8:19805713 GRCh38: Chr8:19948202	LPL		not provided, Cardiovascular phenotype	Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 79278777.	NM_000237.3(LPL):c.1338T>C (p.Ser446=) GRCh37: Chr8:19819641 GRCh38: Chr8:19962130	LPL		Hyperlipidemia, familial combined, LPL related, Hyperlipoproteinemia, type I, not provided, Cardiovascular phenotype	Likely benign (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 76607178.	NM_000237.3(LPL):c.1325T>G (p.Val442Gly) GRCh37: Chr8:19819628 GRCh38: Chr8:19962117	LPL	V442G	Hyperlipidemia, familial combined, LPL related, Hyperlipoproteinemia, type I, not provided, Hyperlipoproteinemia, type I	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 76575579.	NM_000237.3(LPL):c.276G>A (p.Val92=) GRCh37: Chr8:19809306 GRCh38: Chr8:19951795	LPL		Cardiovascular phenotype, not provided	Benign/Likely benign (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 76466880.	NM_000237.3(LPL):c.189C>T (p.Ser63=) GRCh37: Chr8:19805791 GRCh38: Chr8:19948280	LPL		Cardiovascular phenotype, not provided, Hyperlipoproteinemia, type I	Conflicting interpretations of pathogenicity (Oct 14, 2022)	criteria provided, conflicting interpretations
Select item 75516381.	NM_000237.3(LPL):c.112G>A (p.Glu38Lys) GRCh37: Chr8:19805714 GRCh38: Chr8:19948203	LPL	E38K	not specified, Hyperlipoproteinemia, type I, not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 75443582.	NM_000237.3(LPL):c.542-8C>T GRCh37: Chr8:19811623 GRCh38: Chr8:19954112	LPL		not provided	Benign (Nov 1, 2022)	criteria provided, single submitter
Select item 75348983.	NM_000237.3(LPL):c.59C>T (p.Ala20Val) GRCh37: Chr8:19797010 GRCh38: Chr8:19939499	LPL	A20V	not provided	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 75085784.	NM_000237.3(LPL):c.900G>A (p.Gly300=) GRCh37: Chr8:19813476 GRCh38: Chr8:19955965	LPL		not provided	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 74787085.	NM_000237.3(LPL):c.528C>G (p.Val176=) GRCh37: Chr8:19810919 GRCh38: Chr8:19953408	LPL		Cardiovascular phenotype, not provided, Hyperlipoproteinemia, type I	Conflicting interpretations of pathogenicity (Oct 7, 2022)	criteria provided, conflicting interpretations
Select item 74594986.	NM_000237.3(LPL):c.1128C>T (p.Ile376=) GRCh37: Chr8:19816880 GRCh38: Chr8:19959369	LPL		not provided, Cardiovascular phenotype	Benign/Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 74219887.	NM_000237.3(LPL):c.687T>C (p.His229=) GRCh37: Chr8:19811776 GRCh38: Chr8:19954265	LPL		Cardiovascular phenotype, not provided, Hyperlipoproteinemia, type I	Conflicting interpretations of pathogenicity (Oct 14, 2022)	criteria provided, conflicting interpretations
Select item 73816788.	NM_000237.3(LPL):c.1272C>T (p.Pro424=) GRCh37: Chr8:19818544 GRCh38: Chr8:19961033	LPL		not provided	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 72331089.	NM_000237.3(LPL):c.290C>T (p.Ala97Val) GRCh37: Chr8:19809320 GRCh38: Chr8:19951809	LPL	A97V	Cardiovascular phenotype, not provided, Hyperlipoproteinemia, type I	Conflicting interpretations of pathogenicity (Sep 13, 2022)	criteria provided, conflicting interpretations
Select item 72115290.	NM_000237.3(LPL):c.456T>C (p.Asn152=) GRCh37: Chr8:19810847 GRCh38: Chr8:19953336	LPL		Cardiovascular phenotype, not provided, Hyperlipoproteinemia, type I	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71980591.	NM_000237.3(LPL):c.345A>C (p.Ser115=) GRCh37: Chr8:19809375 GRCh38: Chr8:19951864	LPL		Cardiovascular phenotype, not provided, Hyperlipoproteinemia, type I	Conflicting interpretations of pathogenicity (Oct 20, 2022)	criteria provided, conflicting interpretations
Select item 71887492.	NM_000237.3(LPL):c.798C>T (p.Cys266=) GRCh37: Chr8:19813374 GRCh38: Chr8:19955863	LPL		Cardiovascular phenotype, not provided	Likely benign (Oct 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63207393.	NM_000237.3(LPL):c.998G>A (p.Arg333His) GRCh37: Chr8:19813574 GRCh38: Chr8:19956063	LPL	R333H	Hyperlipoproteinemia, type I, Hyperlipidemia, familial combined, LPL related, Cardiovascular phenotype, not provided	Conflicting interpretations of pathogenicity (Mar 8, 2023)	criteria provided, conflicting interpretations
Select item 52388694.	NM_000237.3(LPL):c.784C>T (p.Gln262Ter) GRCh37: Chr8:19813360 GRCh38: Chr8:19955849	LPL	Q262*	Hyperlipoproteinemia, type I, Hypertriglyceridemia, not provided	Conflicting interpretations of pathogenicity (Jan 22, 2020)	criteria provided, conflicting interpretations
Select item 52271995.	NM_000237.3(LPL):c.797G>A (p.Cys266Tyr) GRCh37: Chr8:19813373 GRCh38: Chr8:19955862	LPL	C266Y	Hyperlipoproteinemia, type I	Likely pathogenic (Dec 3, 2017)	criteria provided, single submitter
Select item 49574396.	NM_000237.3(LPL):c.213C>G (p.His71Gln) GRCh37: Chr8:19805815 GRCh38: Chr8:19948304	LPL	H71Q	not provided	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations
Select item 49574297.	NM_000237.3(LPL):c.1136C>T (p.Thr379Ile) GRCh37: Chr8:19816888 GRCh38: Chr8:19959377	LPL	T379I	not provided, Hyperlipoproteinemia, type I, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Oct 18, 2022)	criteria provided, conflicting interpretations
Select item 49574198.	NM_000237.3(LPL):c.1135A>G (p.Thr379Ala) GRCh37: Chr8:19816887 GRCh38: Chr8:19959376	LPL	T379A	not provided, Hyperlipoproteinemia, type I, Cardiovascular phenotype, not specified	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36245399.	NM_000237.3(LPL):c.*1848C>A GRCh37: Chr8:19824669 GRCh38: Chr8:19967158	LPL		not provided, Hyperlipoproteinemia, type I	Benign (Aug 30, 2018)	criteria provided, multiple submitters, no conflicts
Select item 362452100.	NM_000237.3(LPL):c.*1846C>T GRCh37: Chr8:19824667 GRCh38: Chr8:19967156	LPL		not provided, Hyperlipoproteinemia, type I	Benign (Aug 30, 2018)	criteria provided, multiple submitters, no conflicts

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