"GeneDx"[submitter] AND "LPL"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 362398	NM_000237.3(LPL):c.-283G>T	LPL	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 362399	NC_000008.11:g.19939160T>G	LPL	Single nucleotide variant	not provided +1 more	GBenign
Select item 362400	NM_000237.3(LPL):c.-172_-171dup	LPL	Duplication (5 prime UTR variant)	Hyperlipoproteinemia, type I +1 more	GConflicting classifications of pathogenicity
Select item 1712082	NM_000237.3(LPL):c.-3G>T	LPL	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2499311	NM_000237.3(LPL):c.43C>A (p.Leu15Ile)	LPL (L15I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1207178	NM_000237.3(LPL):c.88+40G>A	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263161	NM_000237.3(LPL):c.89-196T>G	LPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1552	NM_000237.3(LPL):c.106G>A (p.Asp36Asn)	LPL (D36N)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I +3 more	GBenign/Likely benign; other
Select item 755163	NM_000237.3(LPL):c.112G>A (p.Glu38Lys)	LPL (E38K)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I +3 more	GConflicting classifications of pathogenicity
Select item 1209598	NM_000237.3(LPL):c.190G>A (p.Val64Met)	LPL (V64M)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 495743	NM_000237.3(LPL):c.213C>G (p.His71Gln)	LPL (H71Q)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1248607	NM_000237.3(LPL):c.249+78A>G	LPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208935	NM_000237.3(LPL):c.250-256C>G	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2662202	NM_000237.3(LPL):c.272G>C (p.Trp91Ser)	LPL (W91S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343433	NM_000237.3(LPL):c.274G>A (p.Val92Met)	LPL (V92M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1284647	NM_000237.3(LPL):c.286G>C (p.Val96Leu)	LPL (V96L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1203042	NM_000237.3(LPL):c.292G>A (p.Ala98Thr)	LPL (A98T)	Single nucleotide variant (missense variant)	LPL-related disorder +4 more	GLikely pathogenic
Select item 1306386	NM_000237.3(LPL):c.329TGG[1] (p.Val111del)	LPL (V111del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 362407	NM_000237.3(LPL):c.405G>A (p.Val135=)	LPL	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1212446	NM_000237.3(LPL):c.423G>C (p.Trp141Cys)	LPL (W141C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 495744	NM_000237.3(LPL):c.429+20A>C	LPL	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1273066	NM_000237.3(LPL):c.429+236T>C	LPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188044	NM_000237.3(LPL):c.430-125A>C	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230139	NM_000237.3(LPL):c.430-34C>A	LPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286747	NM_000237.3(LPL):c.430-30A>C	LPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 362408	NM_000237.3(LPL):c.430-6C>T	LPL	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 362409	NM_000237.3(LPL):c.435G>A (p.Glu145=)	LPL	Single nucleotide variant (synonymous variant)	Hyperlipoproteinemia, type I +2 more	GBenign
Select item 1237990	NM_000237.3(LPL):c.541+74T>C	LPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177822	NM_000237.3(LPL):c.541+92TG[4]	LPL	Microsatellite (intron variant)	not provided	GBenign
Select item 1247252	NM_000237.3(LPL):c.541+228T>C	LPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248743	NM_000237.3(LPL):c.542-214C>T	LPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187084	NM_000237.3(LPL):c.542-130C>A	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1066635	NM_000237.3(LPL):c.547G>A (p.Asp183Asn)	LPL (D183N)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I +2 more	GPathogenic/Likely pathogenic
Select item 2412842	NM_000237.3(LPL):c.622G>A (p.Val208Ile)	LPL (V208I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1522	NM_000237.3(LPL):c.644G>A (p.Gly215Glu)	LPL (G215E)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I +3 more	GPathogenic/Likely pathogenic
Select item 1529	NM_000237.3(LPL):c.662T>C (p.Ile221Thr)	LPL (I221T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 362411	NM_000237.3(LPL):c.678A>G (p.Pro226=)	LPL	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1303255	NM_000237.3(LPL):c.686A>G (p.His229Arg)	LPL (H229R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 742198	NM_000237.3(LPL):c.687T>C (p.His229=)	LPL	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1527	NM_000237.3(LPL):c.701C>T (p.Pro234Leu)	LPL (P234L)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I +3 more	GPathogenic/Likely pathogenic
Select item 1243187	NM_000237.3(LPL):c.775+33C>G	LPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182670	NM_000237.3(LPL):c.775+37T>C	LPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226809	NM_000237.3(LPL):c.775+80A>G	LPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285932	NM_000237.3(LPL):c.775+103C>T	LPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706932	NM_000237.3(LPL):c.775+138A>G	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282596	NM_000237.3(LPL):c.776-172G>A	LPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248665	NM_000237.3(LPL):c.776-53A>G	LPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 523886	NM_000237.3(LPL):c.784C>T (p.Gln262Ter)	LPL (Q262*)	Single nucleotide variant (nonsense)	Hypertriglyceridemia +2 more	GConflicting classifications of pathogenicity
Select item 362412	NM_000237.3(LPL):c.786G>A (p.Gln262=)	LPL	Single nucleotide variant (synonymous variant)	Hyperlipoproteinemia, type I +3 more	GConflicting classifications of pathogenicity
Select item 1530	NM_000237.3(LPL):c.809G>A (p.Arg270His)	LPL (R270H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 855588	NM_000237.3(LPL):c.835C>G (p.Leu279Val)	LPL (L279V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic
Select item 1314220	NM_000237.3(LPL):c.885A>C (p.Glu295Asp)	LPL (E295D)	Single nucleotide variant (missense variant)	Hyperlipidemia, familial combined, LPL related +2 more	GUncertain significance
Select item 1550	NM_000237.3(LPL):c.953A>G (p.Asn318Ser)	LPL (N318S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1302175	NM_000237.3(LPL):c.958G>T (p.Val320Phe)	LPL (V320F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2502783	NM_000237.3(LPL):c.975C>G (p.Ser325Arg)	LPL (S325R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1030690	NM_000237.3(LPL):c.991A>G (p.Lys331Glu)	LPL (K331E)	Single nucleotide variant (missense variant)	Lipase deficiency, combined +2 more	GPathogenic/Likely pathogenic
Select item 1206794	NM_000237.3(LPL):c.995C>T (p.Thr332Ile)	LPL (T332I)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 632073	NM_000237.3(LPL):c.998G>A (p.Arg333His)	LPL (R333H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 495740	NM_000237.3(LPL):c.1018+16T>C	LPL	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1165810	NM_000237.3(LPL):c.1018+34A>G	LPL	Single nucleotide variant (intron variant)	Hyperlipoproteinemia, type I +2 more	GBenign/Likely benign
Select item 1288977	NM_000237.3(LPL):c.1018+73T>G	LPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227345	NM_000237.3(LPL):c.1018+82C>A	LPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289075	NM_000237.3(LPL):c.1018+108G>A	LPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257491	NM_000237.3(LPL):c.1018+334C>G	LPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 985671	NM_000237.3(LPL):c.1051G>A (p.Gly351Arg)	LPL (G351R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1302090	NM_000237.3(LPL):c.1136C>G (p.Thr379Ser)	LPL (T379S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 495742	NM_000237.3(LPL):c.1136C>T (p.Thr379Ile)	LPL (T379I)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I +2 more	GConflicting classifications of pathogenicity
Select item 1278475	NM_000237.3(LPL):c.1139+43T>C	LPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1735989	NM_000237.3(LPL):c.1158T>G (p.Asn386Lys)	LPL (N386K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 362413	NM_000237.3(LPL):c.1164C>A (p.Thr388=)	LPL	Single nucleotide variant (synonymous variant)	Hyperlipoproteinemia, type I +3 more	GBenign
Select item 1756496	NM_000237.3(LPL):c.1234G>C (p.Asp412His)	LPL (D412H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 362414	NM_000237.3(LPL):c.1279G>A (p.Ala427Thr)	LPL (A427T)	Single nucleotide variant (missense variant)	Hyperlipoproteinemia, type I +3 more	GBenign/Likely benign
Select item 1247115	NM_000237.3(LPL):c.1322+179G>T	LPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174434	NM_000237.3(LPL):c.1323-298T>C	LPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1559	NM_000237.3(LPL):c.1323-187A>G	LPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1165815	NM_000237.3(LPL):c.1323-90T>G	LPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 766071	NM_000237.3(LPL):c.1325T>G (p.Val442Gly)	LPL (V442G)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1196534	NM_000237.3(LPL):c.1397A>C (p.His466Pro)	LPL (H466P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1534	NM_000237.3(LPL):c.1421C>G (p.Ser474Ter)	LPL (S474*)	Single nucleotide variant (nonsense)	Hyperlipoproteinemia, type I +4 more	GBenign
Select item 2504783	NM_000237.3(LPL):c.1426T>C (p.Ter476Arg)	LPL	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 1234558	NM_000237.3(LPL):c.1428-207del	LPL	Deletion (intron variant)	not provided	GBenign
Select item 1275704	NM_000237.3(LPL):c.1428-127T>C	LPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707127	NM_000237.3(LPL):c.1428-80T>A	LPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269038	NM_000237.3(LPL):c.1428-11C>T	LPL	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 362417	NM_000237.3(LPL):c.*9G>A	LPL	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 362422	NM_000237.3(LPL):c.*371T>C	LPL	Single nucleotide variant (3 prime UTR variant)	Hyperlipoproteinemia, type I +1 more	GBenign
Select item 362430	NM_000237.3(LPL):c.*827A>T	LPL	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 362436	NM_000237.3(LPL):c.*1142C>T	LPL	Single nucleotide variant (3 prime UTR variant)	Hyperlipoproteinemia, type I +1 more	GBenign
Select item 362440	NM_000237.3(LPL):c.*1224C>A	LPL	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 362441	NM_000237.3(LPL):c.*1250A>G	LPL	Single nucleotide variant (3 prime UTR variant)	Hyperlipoproteinemia, type I +1 more	GBenign
Select item 40131	NM_000237.3(LPL):c.*1671T>C	LPL	Single nucleotide variant (3 prime UTR variant)	Hyperlipoproteinemia, type I +1 more	GBenign
Select item 362450	NM_000237.3(LPL):c.1806_1807insTT	LPL	Insertion (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 362452	NM_000237.3(LPL):c.*1846C>T	LPL	Single nucleotide variant (3 prime UTR variant)	Hyperlipoproteinemia, type I +1 more	GBenign
Select item 362453	NM_000237.3(LPL):c.*1848C>A	LPL	Single nucleotide variant (3 prime UTR variant)	Hyperlipoproteinemia, type I +1 more	GBenign
Select item 1227639	NC_000008.11:g.19967357G>A	LPL	Single nucleotide variant	not provided	GBenign
Select item 1181642	NC_000008.11:g.19967385T>G	LPL	Single nucleotide variant	not provided	GBenign

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