| NM_000237.3(LPL):c.*1671T>C |
single nucleotide variant |
High density lipoprotein cholesterol level quantitative trait locus 11 [RCV000033176]|Hyperlipoproteinemia, type I [RCV000353989]|not provided [RCV001519438] |
Chr8:19966981 [GRCh38]
Chr8:19824492 [GRCh37]
Chr8:8p21.3 |
association|benign |
| NM_000237.3(LPL):c.607G>A (p.Ala203Thr) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000001583] |
Chr8:19954185 [GRCh38]
Chr8:19811696 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| LPL, INS |
insertion |
Hyperlipoproteinemia, type I [RCV000001584] |
Chr8:8p22 |
pathogenic |
| NM_000237.3(LPL):c.898_1019-1234dup |
duplication |
Hyperlipoproteinemia, type I [RCV000001585] |
Chr8:19955962..19955963 [GRCh38]
Chr8:19813473..19813474 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.644G>A (p.Gly215Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002362549]|Hyperlipidemia, familial combined, LPL related [RCV000763181]|Hyperlipidemia, familial combined, LPL related [RCV001248904]|Hyperlipoproteinemia, type I [RCV000001586]|LPL-related disorder [RCV003415622]|not provided [RCV000521241] |
Chr8:19954222 [GRCh38]
Chr8:19811733 [GRCh37]
Chr8:8p21.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NG_008855.2:g.(51625_55052)_(57638_59124)del |
deletion |
Hyperlipoproteinemia, type I [RCV000001587] |
Chr8:8p22 |
pathogenic |
| NM_000237.3(LPL):c.397C>T (p.Gln133Ter) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000001588]|not provided [RCV001385518] |
Chr8:19951916 [GRCh38]
Chr8:19809427 [GRCh37]
Chr8:8p21.3 |
pathogenic|likely pathogenic |
| NM_000237.3(LPL):c.811T>A (p.Ser271Thr) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000001589] |
Chr8:19955876 [GRCh38]
Chr8:19813387 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.250-1G>A |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000001590] |
Chr8:19951768 [GRCh38]
Chr8:19809279 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.701C>T (p.Pro234Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002362550]|Hyperlipidemia, familial combined, LPL related [RCV001253353]|Hyperlipidemia, familial combined, LPL related [RCV005049309]|Hyperlipoproteinemia, type I [RCV000001591]|LPL-related disorder [RCV003964785]|not provided [RCV001851555] |
Chr8:19954279 [GRCh38]
Chr8:19811790 [GRCh37]
Chr8:8p21.3 |
pathogenic|likely pathogenic |
| NM_000237.3(LPL):c.693C>G (p.Asp231Glu) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000001592] |
Chr8:19954271 [GRCh38]
Chr8:19811782 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.662T>C (p.Ile221Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV003298025]|Hyperlipidemia, familial combined, LPL related [RCV001248903]|Hyperlipoproteinemia, type I [RCV000001593]|not provided [RCV001388969] |
Chr8:19954240 [GRCh38]
Chr8:19811751 [GRCh37]
Chr8:8p21.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000237.3(LPL):c.809G>A (p.Arg270His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002415385]|Hyperlipidemia, familial combined, LPL related [RCV001248901]|Hyperlipoproteinemia, type I [RCV000001594]|not provided [RCV000497435] |
Chr8:19955874 [GRCh38]
Chr8:19813385 [GRCh37]
Chr8:8p21.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000237.3(LPL):c.300C>A (p.Tyr100Ter) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000001595]|not provided [RCV003555886] |
Chr8:19951819 [GRCh38]
Chr8:19809330 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.506G>A (p.Gly169Glu) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000001596] |
Chr8:19953386 [GRCh38]
Chr8:19810897 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.548A>G (p.Asp183Gly) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000001597] |
Chr8:19954126 [GRCh38]
Chr8:19811637 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.1421C>G (p.Ser474Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002390085]|Hyperlipidemia, familial combined, LPL related [RCV002504735]|Hyperlipoproteinemia, type I [RCV000385586]|LPL-related disorder [RCV003974788]|not provided [RCV001511819]|not specified [RCV001804709] |
Chr8:19962213 [GRCh38]
Chr8:19962213..19962214 [GRCh38]
Chr8:19819724 [GRCh37]
Chr8:19819724..19819725 [GRCh37]
Chr8:8p21.3 |
benign|likely benign |
| NM_000237.3(LPL):c.249+1G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002426478]|Hyperlipidemia, familial combined, LPL related [RCV001537867]|Hyperlipoproteinemia, type I [RCV000001599]|not provided [RCV001236175] |
Chr8:19948341 [GRCh38]
Chr8:19805852 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.264T>A (p.Tyr88Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002453245]|Hyperlipoproteinemia, type I [RCV000001600] |
Chr8:19951783 [GRCh38]
Chr8:19809294 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.1227G>A (p.Trp409Ter) |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV002504736]|Hyperlipoproteinemia, type I [RCV000001601] |
Chr8:19960988 [GRCh38]
Chr8:19818499 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.742del (p.Ala248fs) |
deletion |
Hyperlipoproteinemia, type I [RCV000001602]|Lpl-arita [RCV000001603] |
Chr8:19954320 [GRCh38]
Chr8:19811831 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.829G>A (p.Asp277Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002426479]|Hyperlipidemia, familial combined, LPL related [RCV002476909]|Hyperlipoproteinemia, type I [RCV000001604]|not provided [RCV001059212] |
Chr8:19955894 [GRCh38]
Chr8:19813405 [GRCh37]
Chr8:8p21.3 |
pathogenic|likely pathogenic |
| NM_000237.3(LPL):c.337T>C (p.Trp113Arg) |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV001197456]|Hyperlipidemia, familial combined, LPL related [RCV005049310]|Hyperlipoproteinemia, type I [RCV000001605]|not provided [RCV001851556] |
Chr8:19951856 [GRCh38]
Chr8:19809367 [GRCh37]
Chr8:8p21.3 |
pathogenic|likely pathogenic |
| NM_000237.3(LPL):c.272G>A (p.Trp91Ter) |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV001813730]|Hyperlipoproteinemia, type I [RCV000001606]|not provided [RCV001385517] |
Chr8:19951791 [GRCh38]
Chr8:19809302 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.88+1G>C |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000001607] |
Chr8:19939529 [GRCh38]
Chr8:19797040 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.1081G>A (p.Ala361Thr) |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV002247233]|Hyperlipoproteinemia, type I [RCV000001608] |
Chr8:19959322 [GRCh38]
Chr8:19816833 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.596C>G (p.Ser199Cys) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000001609] |
Chr8:19954174 [GRCh38]
Chr8:19811685 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.306A>C (p.Arg102Ser) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000001610]|not provided [RCV003555887] |
Chr8:19951825 [GRCh38]
Chr8:19809336 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.665G>A (p.Gly222Glu) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000001611] |
Chr8:19954243 [GRCh38]
Chr8:19811754 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.621C>G (p.Asp207Glu) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000001612]|not provided [RCV001851557] |
Chr8:19954199 [GRCh38]
Chr8:19811710 [GRCh37]
Chr8:8p21.3 |
pathogenic|likely pathogenic |
| NM_000237.3(LPL):c.808C>T (p.Arg270Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002415386]|Hyperlipidemia, familial combined, LPL related [RCV005049311]|Hyperlipoproteinemia, type I [RCV000001613]|LPL-related disorder [RCV003894783]|not provided [RCV001055155] |
Chr8:19955873 [GRCh38]
Chr8:19813384 [GRCh37]
Chr8:8p21.3 |
pathogenic|likely pathogenic |
| NM_000237.3(LPL):c.-227T>C |
single nucleotide variant |
Hyperlipidemia, familial combined, susceptibility to [RCV000001614]|not specified [RCV004689400] |
Chr8:19939214 [GRCh38]
Chr8:19796725 [GRCh37]
Chr8:8p21.3 |
pathogenic|risk factor|uncertain significance |
| NM_000237.3(LPL):c.953A>G (p.Asn318Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002371753]|Hyperlipidemia, familial combined, LPL related [RCV000001615]|Hyperlipidemia, familial combined, LPL related [RCV002467488]|Hyperlipidemia, familial combined, susceptibility to [RCV000781944]|Hyperlipoproteinemia, type I [RCV000988041]|not provided [RCV001356263]|not specified [RCV002222335] |
Chr8:19956018 [GRCh38]
Chr8:19813529 [GRCh37]
Chr8:8p21.3 |
pathogenic|risk factor|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records |
| NM_000237.3(LPL):c.1174C>G (p.Leu392Val) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000001616] |
Chr8:19960935 [GRCh38]
Chr8:19818446 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.106G>A (p.Asp36Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002408446]|Coronary heart disease [RCV000157298]|Hyperlipidemia, familial combined, susceptibility to [RCV000001617]|Hyperlipoproteinemia, type I [RCV000352575]|LPL-related disorder [RCV003924794]|not provided [RCV000733476]|not specified [RCV000454647] |
Chr8:19948197 [GRCh38]
Chr8:19948197..19948198 [GRCh38]
Chr8:19805708 [GRCh37]
Chr8:19805708..19805709 [GRCh37]
Chr8:8p21.3 |
pathogenic|risk factor|benign|likely benign|other |
| NM_000237.3(LPL):c.1334G>A (p.Cys445Tyr) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000001618] |
Chr8:19962126 [GRCh38]
Chr8:19819637 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.755T>C (p.Ile252Thr) |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV005041965]|Hyperlipoproteinemia, type I [RCV000001619]|not provided [RCV001039273] |
Chr8:19954333 [GRCh38]
Chr8:19811844 [GRCh37]
Chr8:8p21.3 |
pathogenic|likely pathogenic |
| LPL, -93T-G, PROMOTER |
single nucleotide variant |
Hyperlipidemia, familial combined, susceptibility to [RCV000001620] |
Chr8:8p22 |
pathogenic|risk factor |
| NM_000237.3(LPL):c.987C>A (p.Tyr329Ter) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000001621]|LIPOPROTEIN LIPASE (OLBIA) [RCV000001622] |
Chr8:19956052 [GRCh38]
Chr8:19813563 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.798C>G (p.Cys266Trp) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000001623] |
Chr8:19955863 [GRCh38]
Chr8:19813374 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| LPL, 1-BP DEL, CODON 172 |
deletion |
Hyperlipoproteinemia, type I [RCV000001624] |
Chr8:8p22 |
pathogenic |
| NM_000237.3(LPL):c.1323-187A>G |
single nucleotide variant |
High density lipoprotein cholesterol level quantitative trait locus 11 [RCV000001625]|not provided [RCV001618206] |
Chr8:19961928 [GRCh38]
Chr8:19819439 [GRCh37]
Chr8:8p21.3 |
association|benign |
| GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 |
copy number gain |
See cases [RCV000050294] |
Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21 |
pathogenic |
| GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 |
copy number loss |
See cases [RCV000050297] |
Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1 |
pathogenic |
| GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 |
copy number gain |
See cases [RCV000050912] |
Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1 |
pathogenic |
| GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 |
copy number gain |
See cases [RCV000051145] |
Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 |
copy number gain |
See cases [RCV000051206] |
Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 |
copy number gain |
See cases [RCV000051110] |
Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21 |
pathogenic |
| GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 |
copy number gain |
See cases [RCV000053630] |
Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1 |
pathogenic |
| GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] |
Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1 |
pathogenic |
| GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 |
copy number gain |
See cases [RCV000053632] |
Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1 |
pathogenic |
| GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 |
copy number gain |
See cases [RCV000053633] |
Chr8:12750796..29445409 [GRCh38]
Chr8:12608305..29302926 [GRCh37]
Chr8:12652676..29358845 [NCBI36]
Chr8:8p23.1-12 |
pathogenic |
| GRCh38/hg38 8p23.1-21.3(chr8:12787272-20952389)x3 |
copy number gain |
See cases [RCV000053634] |
Chr8:12787272..20952389 [GRCh38]
Chr8:12644781..20809900 [GRCh37]
Chr8:12689152..20854180 [NCBI36]
Chr8:8p23.1-21.3 |
pathogenic |
| GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 |
copy number gain |
See cases [RCV000053635] |
Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21 |
pathogenic |
| GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 |
copy number gain |
See cases [RCV000053629] |
Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 |
copy number gain |
See cases [RCV000053602] |
Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] |
Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 |
copy number gain |
See cases [RCV000053599] |
Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12 |
pathogenic |
| NM_000237.3(LPL):c.*364A>C |
single nucleotide variant |
not provided [RCV000106287] |
Chr8:19965674 [GRCh38]
Chr8:19823185 [GRCh37]
Chr8:8p21.3 |
not provided |
| NM_000237.3(LPL):c.702G>A (p.Pro234=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004641638]|not provided [RCV001412335] |
Chr8:19954280 [GRCh38]
Chr8:19811791 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1306G>A (p.Gly436Arg) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000145429] |
Chr8:19961067 [GRCh38]
Chr8:19818578 [GRCh37]
Chr8:8p21.3 |
not provided |
| NM_000237.3(LPL):c.1302A>T (p.Lys434Asn) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000145433] |
Chr8:19961063 [GRCh38]
Chr8:19818574 [GRCh37]
Chr8:8p21.3 |
not provided |
| GRCh38/hg38 8p23.1-21.3(chr8:12732530-20436882)x3 |
copy number gain |
See cases [RCV000135294] |
Chr8:12732530..20436882 [GRCh38]
Chr8:12590039..20294393 [GRCh37]
Chr8:12634410..20338673 [NCBI36]
Chr8:8p23.1-21.3 |
pathogenic |
| GRCh38/hg38 8p21.3(chr8:19864924-20015601)x1 |
copy number loss |
See cases [RCV000134935] |
Chr8:19864924..20015601 [GRCh38]
Chr8:19722435..19873112 [GRCh37]
Chr8:19766715..19917392 [NCBI36]
Chr8:8p21.3 |
likely benign |
| GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 |
copy number gain |
See cases [RCV000135786] |
Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1 |
pathogenic |
| GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 |
copy number gain |
See cases [RCV000135566] |
Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1 |
pathogenic |
| GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 |
copy number gain |
See cases [RCV000136516] |
Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21 |
pathogenic |
| GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3 |
copy number gain |
See cases [RCV000136026] |
Chr8:241605..24656971 [GRCh38]
Chr8:191605..24514484 [GRCh37]
Chr8:181605..24570374 [NCBI36]
Chr8:8p23.3-21.2 |
pathogenic |
| GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3 |
copy number gain |
See cases [RCV000135967] |
Chr8:241530..23198398 [GRCh38]
Chr8:191530..23055911 [GRCh37]
Chr8:181530..23111856 [NCBI36]
Chr8:8p23.3-21.3 |
pathogenic |
| GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 |
copy number gain |
See cases [RCV000136825] |
Chr8:12725750..30180521 [GRCh38]
Chr8:12583259..30038037 [GRCh37]
Chr8:12627630..30157579 [NCBI36]
Chr8:8p23.1-12 |
pathogenic |
| GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 |
copy number gain |
See cases [RCV000137249] |
Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1 |
pathogenic |
| GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 |
copy number gain |
See cases [RCV000138058] |
Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12 |
pathogenic |
| GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 |
copy number gain |
See cases [RCV000137807] |
Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23 |
pathogenic|likely pathogenic |
| GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 |
copy number gain |
See cases [RCV000138831] |
Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12 |
pathogenic |
| GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3 |
copy number gain |
See cases [RCV000138244] |
Chr8:12382844..28625564 [GRCh38]
Chr8:12240353..28483081 [GRCh37]
Chr8:12284724..28539000 [NCBI36]
Chr8:8p23.1-21.1 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 |
copy number gain |
See cases [RCV000138643] |
Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 |
copy number gain |
See cases [RCV000139891] |
Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22 |
pathogenic |
| GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 |
copy number gain |
See cases [RCV000139770] |
Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22 |
pathogenic |
| GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 |
copy number gain |
See cases [RCV000139796] |
Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1 |
pathogenic |
| GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 |
copy number gain |
See cases [RCV000139549] |
Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23 |
pathogenic |
| GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 |
copy number gain |
See cases [RCV000141410] |
Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 |
copy number gain |
See cases [RCV000141808] |
Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1 |
copy number loss |
See cases [RCV000142516] |
Chr8:12383584..29033946 [GRCh38]
Chr8:12241093..28891463 [GRCh37]
Chr8:12285464..28947382 [NCBI36]
Chr8:8p23.1-12 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 |
copy number gain |
See cases [RCV000142858] |
Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1 |
copy number loss |
See cases [RCV000142747] |
Chr8:18972996..33619264 [GRCh38]
Chr8:18830506..33476782 [GRCh37]
Chr8:18874786..33596324 [NCBI36]
Chr8:8p22-12 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 |
copy number gain |
See cases [RCV000148092] |
Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 |
copy number gain |
See cases [RCV000143508] |
Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21 |
pathogenic |
| GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 |
copy number gain |
See cases [RCV000148249] |
Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21 |
pathogenic |
| GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 |
copy number gain |
See cases [RCV000148237] |
Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1 |
pathogenic |
| GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 |
copy number loss |
See cases [RCV000148252] |
Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1 |
pathogenic |
| NM_000237.3(LPL):c.928T>C (p.Cys310Arg) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000258506] |
Chr8:19955993 [GRCh38]
Chr8:19813504 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.1187A>T (p.Glu396Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV004020588]|Hyperlipidemia, familial combined, LPL related [RCV005044435]|Hyperlipoproteinemia, type I [RCV000258507]|not specified [RCV004586631] |
Chr8:19960948 [GRCh38]
Chr8:19818459 [GRCh37]
Chr8:8p21.3 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 |
copy number gain |
See cases [RCV000511325] |
Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22 |
pathogenic |
| GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3 |
copy number gain |
See cases [RCV000239945] |
Chr8:12580132..26774307 [GRCh37]
Chr8:8p23.1-21.2 |
pathogenic |
| NM_000237.3(LPL):c.797G>A (p.Cys266Tyr) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000625872] |
Chr8:19955862 [GRCh38]
Chr8:19813373 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.678A>G (p.Pro226=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002365429]|Hyperlipoproteinemia, type I [RCV000267552]|not provided [RCV000589102] |
Chr8:19954256 [GRCh38]
Chr8:19811767 [GRCh37]
Chr8:8p21.3 |
benign|likely benign|uncertain significance |
| NM_000237.3(LPL):c.*1308G>C |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000302261] |
Chr8:19966618 [GRCh38]
Chr8:19824129 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.435G>A (p.Glu145=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002328878]|Hyperlipoproteinemia, type I [RCV000302825]|not provided [RCV000587704] |
Chr8:19953315 [GRCh38]
Chr8:19810826 [GRCh37]
Chr8:8p21.3 |
benign|likely benign |
| NM_000237.3(LPL):c.*688G>A |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000304405]|not provided [RCV004705457] |
Chr8:19965998 [GRCh38]
Chr8:19823509 [GRCh37]
Chr8:8p21.3 |
likely benign|uncertain significance |
| NM_000237.3(LPL):c.*371T>C |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000347555]|not provided [RCV001519434] |
Chr8:19965681 [GRCh38]
Chr8:19823192 [GRCh37]
Chr8:8p21.3 |
benign|likely benign |
| NM_000237.3(LPL):c.*9G>A |
single nucleotide variant |
Dystrophin deficiency [RCV001275351]|Hyperlipoproteinemia, type I [RCV000372157]|not provided [RCV000589807] |
Chr8:19965319 [GRCh38]
Chr8:19822830 [GRCh37]
Chr8:8p21.3 |
benign|likely benign |
| NM_000237.3(LPL):c.1164C>A (p.Thr388=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002323564]|Hyperlipoproteinemia, type I [RCV000271225]|not provided [RCV001519924]|not specified [RCV003230489] |
Chr8:19960925 [GRCh38]
Chr8:19818436 [GRCh37]
Chr8:8p21.3 |
benign|likely benign |
| NM_000237.3(LPL):c.*1250A>G |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000287008]|not provided [RCV001672702] |
Chr8:19966560 [GRCh38]
Chr8:19824071 [GRCh37]
Chr8:8p21.3 |
benign|likely benign |
| NM_000237.3(LPL):c.-283G>T |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000288145]|not provided [RCV001545856] |
Chr8:19939158 [GRCh38]
Chr8:19796669 [GRCh37]
Chr8:8p21.3 |
likely benign|uncertain significance |
| NC_000008.11:g.19939160T>G |
single nucleotide variant |
Hyperlipidemia, familial combined, susceptibility to [RCV001823726]|Hyperlipoproteinemia, type I [RCV000326637]|not provided [RCV001512925] |
Chr8:19939160 [GRCh38]
Chr8:19796671 [GRCh37]
Chr8:8p21.3 |
risk factor|benign |
| NM_000237.3(LPL):c.-71C>G |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000349263] |
Chr8:19939370 [GRCh38]
Chr8:19796881 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1279G>A (p.Ala427Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002374601]|Hyperlipoproteinemia, type I [RCV000328685]|not provided [RCV000586674]|not specified [RCV002282126] |
Chr8:19961040 [GRCh38]
Chr8:19818551 [GRCh37]
Chr8:8p21.3 |
benign|likely benign |
| NM_000237.3(LPL):c.*1167C>A |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000290645]|not provided [RCV003430949] |
Chr8:19966477 [GRCh38]
Chr8:19823988 [GRCh37]
Chr8:8p21.3 |
likely benign|uncertain significance |
| NM_000237.3(LPL):c.*448C>T |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000307917] |
Chr8:19965758 [GRCh38]
Chr8:19823269 [GRCh37]
Chr8:8p21.3 |
likely benign|uncertain significance |
| NM_000237.3(LPL):c.*1846C>T |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000329468]|not provided [RCV001637000] |
Chr8:19967156 [GRCh38]
Chr8:19824667 [GRCh37]
Chr8:8p21.3 |
benign |
| NM_000237.3(LPL):c.*1824T>C |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000274354] |
Chr8:19967134 [GRCh38]
Chr8:19824645 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.*1142C>T |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000330982]|not provided [RCV001618661] |
Chr8:19966452 [GRCh38]
Chr8:19823963 [GRCh37]
Chr8:8p21.3 |
benign|likely benign |
| NM_000237.3(LPL):c.*1563_*1567del |
deletion |
Hyperlipoproteinemia, type I [RCV000402498] |
Chr8:19966873..19966877 [GRCh38]
Chr8:19824384..19824388 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.*1039G>A |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000275863] |
Chr8:19966349 [GRCh38]
Chr8:19823860 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.405G>A (p.Val135=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002323563]|Dystrophin deficiency [RCV001273359]|Hyperlipoproteinemia, type I [RCV000356200]|not provided [RCV000590676] |
Chr8:19951924 [GRCh38]
Chr8:19809435 [GRCh37]
Chr8:8p21.3 |
benign|likely benign |
| NM_000237.3(LPL):c.*1224C>A |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000381447]|not provided [RCV001662342] |
Chr8:19966534 [GRCh38]
Chr8:19824045 [GRCh37]
Chr8:8p21.3 |
benign|likely benign |
| NM_000237.3(LPL):c.430-6C>T |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000404936]|not provided [RCV000590669] |
Chr8:19953304 [GRCh38]
Chr8:19810815 [GRCh37]
Chr8:8p21.3 |
benign|likely benign |
| NM_000237.3(LPL):c.*853C>T |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000260478]|not provided [RCV004712551] |
Chr8:19966163 [GRCh38]
Chr8:19966163..19966164 [GRCh38]
Chr8:19823674 [GRCh37]
Chr8:19823674..19823675 [GRCh37]
Chr8:8p21.3 |
benign|likely benign |
| NM_000237.3(LPL):c.*1742T>C |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000277765]|not provided [RCV001519439] |
Chr8:19967052 [GRCh38]
Chr8:19824563 [GRCh37]
Chr8:8p21.3 |
benign|likely benign |
| NM_000237.3(LPL):c.*796A>G |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000359144]|not provided [RCV004712550] |
Chr8:19966106 [GRCh38]
Chr8:19823617 [GRCh37]
Chr8:8p21.3 |
benign|likely benign |
| NM_000237.3(LPL):c.*1159C>T |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000385544] |
Chr8:19966469 [GRCh38]
Chr8:19823980 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.*1291G>A |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000407283] |
Chr8:19966601 [GRCh38]
Chr8:19824112 [GRCh37]
Chr8:8p21.3 |
benign|uncertain significance |
| NM_000237.3(LPL):c.*1783A>T |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000314390]|not provided [RCV004712552] |
Chr8:19967093 [GRCh38]
Chr8:19824604 [GRCh37]
Chr8:8p21.3 |
benign|likely benign |
| NM_000237.3(LPL):c.*1416T>C |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000338425] |
Chr8:19966726 [GRCh38]
Chr8:19824237 [GRCh37]
Chr8:8p21.3 |
benign|likely benign |
| NM_000237.3(LPL):c.*949G>A |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000389011] |
Chr8:19966259 [GRCh38]
Chr8:19823770 [GRCh37]
Chr8:8p21.3 |
benign|likely benign |
| NM_000237.3(LPL):c.*8C>T |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000317564] |
Chr8:19965318 [GRCh38]
Chr8:19822829 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.786G>A (p.Gln262=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002411259]|Hyperlipoproteinemia, type I [RCV000363410]|LPL-related disorder [RCV003922625]|not provided [RCV000900433]|not specified [RCV000586149] |
Chr8:19955851 [GRCh38]
Chr8:19813362 [GRCh37]
Chr8:8p21.3 |
likely benign|uncertain significance |
| NM_000237.3(LPL):c.*1848C>A |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000364517]|not provided [RCV001536913] |
Chr8:19967158 [GRCh38]
Chr8:19824669 [GRCh37]
Chr8:8p21.3 |
benign|likely benign |
| NM_000237.3(LPL):c.*1660G>A |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000299090] |
Chr8:19966970 [GRCh38]
Chr8:19824481 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.333G>T (p.Val111=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003362769]|Hyperlipoproteinemia, type I [RCV000299093]|not provided [RCV002058714] |
Chr8:19951852 [GRCh38]
Chr8:19809363 [GRCh37]
Chr8:8p21.3 |
likely benign|uncertain significance |
| NM_000237.3(LPL):c.*827A>T |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000300463]|not provided [RCV001636999] |
Chr8:19966137 [GRCh38]
Chr8:19823648 [GRCh37]
Chr8:8p21.3 |
benign |
| NM_000237.3(LPL):c.*414_*418del |
deletion |
Hyperlipoproteinemia, type I [RCV000392893]|not provided [RCV001519436] |
Chr8:19965722..19965726 [GRCh38]
Chr8:19823233..19823237 [GRCh37]
Chr8:8p21.3 |
benign|uncertain significance |
| NM_000237.3(LPL):c.1416_1417insT (p.Lys473Ter) |
insertion |
Hyperlipoproteinemia, type I [RCV000262393] |
Chr8:19962208..19962209 [GRCh38]
Chr8:19819719..19819720 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.*824dup |
duplication |
Hyperlipoproteinemia, type I [RCV000264407] |
Chr8:19966123..19966124 [GRCh38]
Chr8:19823634..19823635 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.*1214G>T |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000345574] |
Chr8:19966524 [GRCh38]
Chr8:19824035 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.2(LPL):c.-299T>G |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000380234] |
Chr8:19939142 [GRCh38]
Chr8:19796653 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.88+3A>C |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV003314395] |
Chr8:19939531 [GRCh38]
Chr8:19797042 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.-136T>C |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000292071] |
Chr8:19939305 [GRCh38]
Chr8:19796816 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.*309A>T |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000292798] |
Chr8:19965619 [GRCh38]
Chr8:19823130 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.*884A>C |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000315695] |
Chr8:19966194 [GRCh38]
Chr8:19823705 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.-172_-171dup |
duplication |
Hyperlipoproteinemia, type I [RCV000383605]|not provided [RCV001513132] |
Chr8:19939265..19939266 [GRCh38]
Chr8:19796776..19796777 [GRCh37]
Chr8:8p21.3 |
benign|likely benign|uncertain significance |
| NM_000237.3(LPL):c.260T>C (p.Met87Thr) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000402506] |
Chr8:19951779 [GRCh38]
Chr8:19809290 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.*677T>C |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000404384] |
Chr8:19965987 [GRCh38]
Chr8:19823498 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.-38C>G |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000295630] |
Chr8:19939403 [GRCh38]
Chr8:19796914 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.*262G>A |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000351257] |
Chr8:19965572 [GRCh38]
Chr8:19823083 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.*1806_*1807insTT |
insertion |
Hyperlipoproteinemia, type I [RCV000369035]|not provided [RCV001519573] |
Chr8:19967115..19967116 [GRCh38]
Chr8:19824626..19824627 [GRCh37]
Chr8:8p21.3 |
benign|likely benign |
| NM_000237.3(LPL):c.*290_*293del |
deletion |
Hyperlipoproteinemia, type I [RCV000387033] |
Chr8:19965597..19965600 [GRCh38]
Chr8:19823108..19823111 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.*222A>C |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000296325] |
Chr8:19965532 [GRCh38]
Chr8:19823043 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.*846G>C |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000355328] |
Chr8:19966156 [GRCh38]
Chr8:19823667 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.-49C>T |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000392250] |
Chr8:19939392 [GRCh38]
Chr8:19796903 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.*1279G>A |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000341905] |
Chr8:19966589 [GRCh38]
Chr8:19824100 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.478C>T (p.Leu160Phe) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000359828] |
Chr8:19953358 [GRCh38]
Chr8:19810869 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.*544A>G |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000344131] |
Chr8:19965854 [GRCh38]
Chr8:19823365 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.429+20A>C |
single nucleotide variant |
not provided [RCV000587120] |
Chr8:19951968 [GRCh38]
Chr8:19809479 [GRCh37]
Chr8:8p21.3 |
benign|likely benign |
| NM_000237.3(LPL):c.89-10del |
deletion |
not provided [RCV000587541]|not specified [RCV004701678] |
Chr8:19948166 [GRCh38]
Chr8:19805677 [GRCh37]
Chr8:8p21.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000237.3(LPL):c.213C>G (p.His71Gln) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001272627]|LPL-related disorder [RCV003980065]|not provided [RCV000588713]|not specified [RCV004767424] |
Chr8:19948304 [GRCh38]
Chr8:19805815 [GRCh37]
Chr8:8p21.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000237.3(LPL):c.1135A>G (p.Thr379Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV002325119]|Hyperlipoproteinemia, type I [RCV001164213]|LPL-related disorder [RCV003915681]|not provided [RCV000588862]|not specified [RCV002282248] |
Chr8:19959376 [GRCh38]
Chr8:19816887 [GRCh37]
Chr8:8p21.3 |
benign|likely benign |
| NM_000237.3(LPL):c.1018+16T>C |
single nucleotide variant |
not provided [RCV000586872] |
Chr8:19956099 [GRCh38]
Chr8:19813610 [GRCh37]
Chr8:8p21.3 |
benign|likely benign |
| NM_000237.3(LPL):c.1136C>T (p.Thr379Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002448819]|Hyperlipoproteinemia, type I [RCV001164214]|LPL-related disorder [RCV003905506]|not provided [RCV000589644] |
Chr8:19959377 [GRCh38]
Chr8:19816888 [GRCh37]
Chr8:8p21.3 |
benign|likely benign|uncertain significance |
| GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 |
copy number gain |
See cases [RCV000449225] |
Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12 |
pathogenic |
| GRCh37/hg19 8p22-21.2(chr8:13091530-24483615) |
copy number loss |
See cases [RCV000447428] |
Chr8:13091530..24483615 [GRCh37]
Chr8:8p22-21.2 |
pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 |
copy number gain |
See cases [RCV000447507] |
Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 |
copy number gain |
See cases [RCV000447909] |
Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1 |
pathogenic |
| GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 |
copy number gain |
See cases [RCV000447913] |
Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1 |
pathogenic |
| NM_000237.3(LPL):c.904T>C (p.Cys302Arg) |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV000487457] |
Chr8:19955969 [GRCh38]
Chr8:19813480 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 |
copy number loss |
not provided [RCV000509389] |
Chr8:16992973..32612724 [GRCh37]
Chr8:8p22-12 |
not provided |
| GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) |
copy number gain |
See cases [RCV000510234] |
Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3 |
copy number gain |
See cases [RCV000510571] |
Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12 |
pathogenic |
| GRCh37/hg19 8p21.3(chr8:19108471-19816839)x3 |
copy number gain |
See cases [RCV000511994] |
Chr8:19108471..19816839 [GRCh37]
Chr8:8p21.3 |
likely benign |
| GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 |
copy number gain |
See cases [RCV000511028] |
Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1 |
pathogenic |
| GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 |
copy number gain |
See cases [RCV000510899] |
Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12 |
pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 |
copy number gain |
See cases [RCV000511095] |
Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| Single allele |
duplication |
not provided [RCV000768452] |
Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12 |
likely pathogenic |
| NM_000237.3(LPL):c.653G>A (p.Gly218Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV003283623] |
Chr8:19954231 [GRCh38]
Chr8:19811742 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.784C>T (p.Gln262Ter) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001250244]|Hypertriglyceridemia [RCV001248902]|not provided [RCV000627361] |
Chr8:19955849 [GRCh38]
Chr8:19813360 [GRCh37]
Chr8:8p21.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000237.3(LPL):c.203A>G (p.His68Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV003296601] |
Chr8:19948294 [GRCh38]
Chr8:19805805 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.590G>A (p.Arg197His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002358745]|Hyperlipidemia, familial combined, LPL related [RCV001249092]|Hyperlipidemia, familial combined, LPL related [RCV005049617]|not provided [RCV001860433]|not specified [RCV001420845] |
Chr8:19954168 [GRCh38]
Chr8:19811679 [GRCh37]
Chr8:8p21.3 |
pathogenic|likely pathogenic|uncertain significance |
| GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329) |
copy number gain |
Autism [RCV000626542] |
Chr8:12580104..25947329 [GRCh37]
Chr8:8p23.1-21.2 |
pathogenic |
| GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 |
copy number gain |
See cases [RCV000512169] |
Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3 |
pathogenic |
| GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3 |
copy number gain |
not provided [RCV000683041] |
Chr8:8770948..27079636 [GRCh37]
Chr8:8p23.1-21.2 |
pathogenic |
| GRCh37/hg19 8p21.3(chr8:19686384-20484203)x3 |
copy number gain |
not provided [RCV000683000] |
Chr8:19686384..20484203 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 |
copy number gain |
not provided [RCV000683043] |
Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12 |
pathogenic |
| GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3 |
copy number gain |
not provided [RCV000683042] |
Chr8:1825200..24533193 [GRCh37]
Chr8:8p23.3-21.2 |
pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 |
copy number gain |
not provided [RCV000747248] |
Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 |
copy number gain |
not provided [RCV000747254] |
Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| NM_000237.3(LPL):c.347G>A (p.Arg116Gln) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001580615] |
Chr8:19951866 [GRCh38]
Chr8:19809377 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.290C>T (p.Ala97Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002434191]|Hyperlipoproteinemia, type I [RCV001160569]|not provided [RCV000897052] |
Chr8:19951809 [GRCh38]
Chr8:19809320 [GRCh37]
Chr8:8p21.3 |
likely benign|uncertain significance |
| NM_000237.3(LPL):c.132G>T (p.Arg44Ser) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001580730] |
Chr8:19948223 [GRCh38]
Chr8:19805734 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1421C>A (p.Ser474Ter) |
single nucleotide variant |
not provided [RCV000978630] |
Chr8:19962213 [GRCh38]
Chr8:19819724 [GRCh37]
Chr8:8p21.3 |
benign |
| GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 |
copy number gain |
not provided [RCV000762735] |
Chr8:12556004..34374150 [GRCh37]
Chr8:8p23.1-12 |
likely pathogenic |
| NM_000237.3(LPL):c.*903C>T |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001164320] |
Chr8:19966213 [GRCh38]
Chr8:19823724 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.*1891T>C |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001164440] |
Chr8:19967201 [GRCh38]
Chr8:19824712 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.835C>G (p.Leu279Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV004031932]|Hyperlipidemia, familial combined, LPL related [RCV002505628]|Hyperlipoproteinemia, type I [RCV001806006]|not provided [RCV001060882] |
Chr8:19955900 [GRCh38]
Chr8:19813411 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.423G>C (p.Trp141Cys) |
single nucleotide variant |
not provided [RCV001585037] |
Chr8:19951942 [GRCh38]
Chr8:19809453 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.798C>T (p.Cys266=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002409143]|Hyperlipoproteinemia, type I [RCV001836001]|LPL-related disorder [RCV003920771]|not provided [RCV000891894]|not specified [RCV004702507] |
Chr8:19955863 [GRCh38]
Chr8:19813374 [GRCh37]
Chr8:8p21.3 |
benign|likely benign |
| NM_000237.3(LPL):c.1107C>T (p.Thr369=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003363031]|not provided [RCV000975777] |
Chr8:19959348 [GRCh38]
Chr8:19816859 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.15C>T (p.Ala5=) |
single nucleotide variant |
not provided [RCV000941890] |
Chr8:19939455 [GRCh38]
Chr8:19796966 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1140-7T>G |
single nucleotide variant |
not provided [RCV000928318] |
Chr8:19960894 [GRCh38]
Chr8:19818405 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1170C>T (p.Ser390=) |
single nucleotide variant |
not provided [RCV000944468] |
Chr8:19960931 [GRCh38]
Chr8:19818442 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.900G>A (p.Gly300=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003363011]|Hyperlipoproteinemia, type I [RCV001826935]|not provided [RCV000927868] |
Chr8:19955965 [GRCh38]
Chr8:19813476 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1074C>T (p.Thr358=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002416260]|not provided [RCV000982364] |
Chr8:19959315 [GRCh38]
Chr8:19816826 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.528C>G (p.Val176=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002346095]|Hyperlipoproteinemia, type I [RCV001162184]|not provided [RCV000924621] |
Chr8:19953408 [GRCh38]
Chr8:19810919 [GRCh37]
Chr8:8p21.3 |
likely benign|uncertain significance |
| NM_000237.3(LPL):c.998G>A (p.Arg333His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002386360]|Hyperlipidemia, familial combined, LPL related [RCV002249478]|Hyperlipidemia, familial combined, LPL related [RCV005047033]|Hyperlipoproteinemia, type I [RCV000778928]|not provided [RCV001592959] |
Chr8:19956063 [GRCh38]
Chr8:19813574 [GRCh37]
Chr8:8p21.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000237.3(LPL):c.1428-6del |
deletion |
not provided [RCV000942705]|not specified [RCV005056696] |
Chr8:19965300 [GRCh38]
Chr8:19822811 [GRCh37]
Chr8:8p21.3 |
likely benign|uncertain significance |
| NM_000237.3(LPL):c.717T>C (p.Phe239=) |
single nucleotide variant |
not provided [RCV000941546] |
Chr8:19954295 [GRCh38]
Chr8:19811806 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.429+10G>A |
single nucleotide variant |
not provided [RCV000982359] |
Chr8:19951958 [GRCh38]
Chr8:19809469 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1325T>G (p.Val442Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV003169444]|Hyperlipidemia, familial combined, LPL related [RCV002468098]|Hyperlipoproteinemia, type I [RCV001164216]|LPL-related disorder [RCV003925850]|not provided [RCV000944561]|not specified [RCV003396555] |
Chr8:19962117 [GRCh38]
Chr8:19819628 [GRCh37]
Chr8:8p21.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000237.3(LPL):c.189C>T (p.Ser63=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002409245]|Hyperlipoproteinemia, type I [RCV001159218]|LPL-related disorder [RCV003978124]|not provided [RCV000943026]|not specified [RCV003331004] |
Chr8:19948280 [GRCh38]
Chr8:19805791 [GRCh37]
Chr8:8p21.3 |
likely benign|uncertain significance |
| NM_000237.3(LPL):c.1128C>T (p.Ile376=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002320093]|Hyperlipoproteinemia, type I [RCV001832083]|LPL-related disorder [RCV003903012]|not provided [RCV000922527]|not specified [RCV003330997] |
Chr8:19959369 [GRCh38]
Chr8:19816880 [GRCh37]
Chr8:8p21.3 |
benign|likely benign |
| NM_000237.3(LPL):c.1019-6C>T |
single nucleotide variant |
not provided [RCV000979502] |
Chr8:19959254 [GRCh38]
Chr8:19816765 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.111C>T (p.Ile37=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002434350]|Hyperlipoproteinemia, type I [RCV001272626]|LPL-related disorder [RCV003953371]|not provided [RCV000979499]|not specified [RCV003331011] |
Chr8:19948202 [GRCh38]
Chr8:19805713 [GRCh37]
Chr8:8p21.3 |
likely benign|uncertain significance |
| NM_000237.3(LPL):c.57C>A (p.Thr19=) |
single nucleotide variant |
not provided [RCV000979571] |
Chr8:19939497 [GRCh38]
Chr8:19797008 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1338T>C (p.Ser446=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002382199]|Hyperlipidemia, familial combined, LPL related [RCV002503109]|Hyperlipoproteinemia, type I [RCV001832228]|not provided [RCV000975928] |
Chr8:19962130 [GRCh38]
Chr8:19819641 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.276G>A (p.Val92=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002434302]|Hyperlipoproteinemia, type I [RCV001272628]|not provided [RCV000944208] |
Chr8:19951795 [GRCh38]
Chr8:19809306 [GRCh37]
Chr8:8p21.3 |
benign|likely benign|uncertain significance |
| NM_000237.3(LPL):c.1368A>C (p.Gly456=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002382111]|not provided [RCV000931921] |
Chr8:19962160 [GRCh38]
Chr8:19819671 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.112G>A (p.Glu38Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV003169360]|Dilated cardiomyopathy 1A [RCV002472376]|Hyperlipoproteinemia, type I [RCV001159216]|not provided [RCV000932549]|not specified [RCV002271598] |
Chr8:19948203 [GRCh38]
Chr8:19805714 [GRCh37]
Chr8:8p21.3 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000237.3(LPL):c.1146A>G (p.Glu382=) |
single nucleotide variant |
not provided [RCV000941301] |
Chr8:19960907 [GRCh38]
Chr8:19818418 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.89-9C>T |
single nucleotide variant |
not provided [RCV000916177] |
Chr8:19948171 [GRCh38]
Chr8:19805682 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.699C>T (p.Tyr233=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002363491]|not provided [RCV000976571] |
Chr8:19954277 [GRCh38]
Chr8:19811788 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.345A>C (p.Ser115=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002454069]|Hyperlipoproteinemia, type I [RCV001160570]|not provided [RCV000893020]|not specified [RCV003323758] |
Chr8:19951864 [GRCh38]
Chr8:19809375 [GRCh37]
Chr8:8p21.3 |
likely benign|uncertain significance |
| GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 |
copy number gain |
not provided [RCV000848478] |
Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| NM_000237.3(LPL):c.41G>A (p.Trp14Ter) |
single nucleotide variant |
not provided [RCV000796878] |
Chr8:19939481 [GRCh38]
Chr8:19796992 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| GRCh37/hg19 8p21.3(chr8:19604406-20174467)x1 |
copy number loss |
not provided [RCV000846804] |
Chr8:19604406..20174467 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1196T>C (p.Ile399Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002348586]|Hyperlipoproteinemia, type I [RCV001164215] |
Chr8:19960957 [GRCh38]
Chr8:19818468 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.519T>C (p.Asn173=) |
single nucleotide variant |
not provided [RCV000942604] |
Chr8:19953399 [GRCh38]
Chr8:19810910 [GRCh37]
Chr8:8p21.3 |
likely benign |
| GRCh37/hg19 8p22-21.3(chr8:18266233-20864195)x1 |
copy number loss |
not provided [RCV000847806] |
Chr8:18266233..20864195 [GRCh37]
Chr8:8p22-21.3 |
uncertain significance |
| GRCh37/hg19 8p21.3(chr8:19731374-20266121)x3 |
copy number gain |
not provided [RCV000850024] |
Chr8:19731374..20266121 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.289_294delinsTTTGCCAAAA (p.Ala97fs) |
indel |
not provided [RCV001243163] |
Chr8:19951808..19951813 [GRCh38]
Chr8:19809319..19809324 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.94_98del (p.Arg32fs) |
deletion |
not provided [RCV001222007] |
Chr8:19948182..19948186 [GRCh38]
Chr8:19805693..19805697 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.640A>T (p.Arg214Ter) |
single nucleotide variant |
not provided [RCV001219282] |
Chr8:19954218 [GRCh38]
Chr8:19811729 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.628C>T (p.His210Tyr) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV004813419] |
Chr8:19954206 [GRCh38]
Chr8:19811717 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.*1928T>C |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001164441] |
Chr8:19967238 [GRCh38]
Chr8:19824749 [GRCh37]
Chr8:8p21.3 |
benign |
| NM_000237.3(LPL):c.81C>A (p.Ala27=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002429780]|Hyperlipoproteinemia, type I [RCV001159215]|not provided [RCV001397205] |
Chr8:19939521 [GRCh38]
Chr8:19797032 [GRCh37]
Chr8:8p21.3 |
likely benign|uncertain significance |
| NM_000237.3(LPL):c.*1373G>A |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001159401] |
Chr8:19966683 [GRCh38]
Chr8:19824194 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.*1399G>A |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001160769] |
Chr8:19966709 [GRCh38]
Chr8:19824220 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.*1414C>T |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001160770] |
Chr8:19966724 [GRCh38]
Chr8:19824235 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.*1547T>A |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001160771] |
Chr8:19966857 [GRCh38]
Chr8:19824368 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.*1048A>C |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001164321] |
Chr8:19966358 [GRCh38]
Chr8:19823869 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.818A>C (p.His273Pro) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV003127227] |
Chr8:19955883 [GRCh38]
Chr8:19813394 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.292G>A (p.Ala98Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002440807]|Hyperlipidemia, familial combined, LPL related [RCV002501917]|Hyperlipoproteinemia, type I [RCV001827495]|LPL-related disorder [RCV003405720]|not provided [RCV001568938] |
Chr8:19951811 [GRCh38]
Chr8:19809322 [GRCh37]
Chr8:8p21.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000237.3(LPL):c.1394G>C (p.Cys465Ser) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001578664] |
Chr8:19962186 [GRCh38]
Chr8:19819697 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.190G>A (p.Val64Met) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001578665]|not provided [RCV003329409]|not specified [RCV002282567] |
Chr8:19948281 [GRCh38]
Chr8:19805792 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.88+40G>A |
single nucleotide variant |
not provided [RCV001575083] |
Chr8:19939568 [GRCh38]
Chr8:19797079 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1397A>C (p.His466Pro) |
single nucleotide variant |
not provided [RCV001560020] |
Chr8:19962189 [GRCh38]
Chr8:19819700 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.776-172G>A |
single nucleotide variant |
not provided [RCV001695988] |
Chr8:19955669 [GRCh38]
Chr8:19813180 [GRCh37]
Chr8:8p21.3 |
benign |
| NM_000237.3(LPL):c.659G>A (p.Ser220Asn) |
single nucleotide variant |
not provided [RCV002001766] |
Chr8:19954237 [GRCh38]
Chr8:19811748 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.430-34C>A |
single nucleotide variant |
not provided [RCV001614596] |
Chr8:19953276 [GRCh38]
Chr8:19810787 [GRCh37]
Chr8:8p21.3 |
benign |
| NM_000237.3(LPL):c.429+236T>C |
single nucleotide variant |
not provided [RCV001678889] |
Chr8:19952184 [GRCh38]
Chr8:19809695 [GRCh37]
Chr8:8p21.3 |
benign |
| NM_000237.3(LPL):c.775+37T>C |
single nucleotide variant |
not provided [RCV001540357] |
Chr8:19954390 [GRCh38]
Chr8:19811901 [GRCh37]
Chr8:8p21.3 |
benign |
| NM_000237.3(LPL):c.346C>A (p.Arg116=) |
single nucleotide variant |
not provided [RCV000944391] |
Chr8:19951865 [GRCh38]
Chr8:19809376 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.456T>C (p.Asn152=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002336874]|Hyperlipoproteinemia, type I [RCV001160572]|not provided [RCV000894605]|not specified [RCV001701240] |
Chr8:19953336 [GRCh38]
Chr8:19810847 [GRCh37]
Chr8:8p21.3 |
benign|likely benign |
| NM_000237.3(LPL):c.542-8C>T |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001832118]|not provided [RCV000931755]|not specified [RCV003323762] |
Chr8:19954112 [GRCh38]
Chr8:19811623 [GRCh37]
Chr8:8p21.3 |
benign|likely benign|uncertain significance |
| NM_000237.3(LPL):c.804C>T (p.His268=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002416160]|not provided [RCV000928366] |
Chr8:19955869 [GRCh38]
Chr8:19813380 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NC_000008.11:g.19939200G>C |
single nucleotide variant |
LPL-related disorder [RCV003942963]|not provided [RCV000942138]|not specified [RCV002249580] |
Chr8:19939200 [GRCh38]
Chr8:19796711 [GRCh37]
Chr8:8p21.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000237.3(LPL):c.59C>T (p.Ala20Val) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001272625]|LPL-related disorder [RCV003978088]|not provided [RCV000930734] |
Chr8:19939499 [GRCh38]
Chr8:19797010 [GRCh37]
Chr8:8p21.3 |
likely benign|uncertain significance |
| NM_000237.3(LPL):c.687T>C (p.His229=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002363371]|Hyperlipoproteinemia, type I [RCV001162186]|LPL-related disorder [RCV003923256]|not provided [RCV000918427]|not specified [RCV003330996] |
Chr8:19954265 [GRCh38]
Chr8:19811776 [GRCh37]
Chr8:8p21.3 |
likely benign|uncertain significance |
| NM_000237.3(LPL):c.1344G>A (p.Glu448=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004994167]|Hyperlipoproteinemia, type I [RCV001273604]|not provided [RCV000983285] |
Chr8:19962136 [GRCh38]
Chr8:19819647 [GRCh37]
Chr8:8p21.3 |
likely benign|uncertain significance |
| NM_000237.3(LPL):c.-101C>T |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001164120] |
Chr8:19939340 [GRCh38]
Chr8:19796851 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.134C>A (p.Thr45Asn) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001159217]|not provided [RCV002557361]|not specified [RCV002249741] |
Chr8:19948225 [GRCh38]
Chr8:19805736 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.249G>A (p.Thr83=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004032838]|Hyperlipoproteinemia, type I [RCV001159219] |
Chr8:19948340 [GRCh38]
Chr8:19805851 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1373C>T (p.Ala458Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002379663]|Hyperlipoproteinemia, type I [RCV001164217] |
Chr8:19962165 [GRCh38]
Chr8:19819676 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.*1854T>C |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001164438] |
Chr8:19967164 [GRCh38]
Chr8:19824675 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.*1886G>A |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001164439] |
Chr8:19967196 [GRCh38]
Chr8:19824707 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.836T>G (p.Leu279Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV004031763]|Hyperlipoproteinemia, type I [RCV001809969]|not provided [RCV001055591] |
Chr8:19955901 [GRCh38]
Chr8:19813412 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.1272C>T (p.Pro424=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003169294]|Hyperlipoproteinemia, type I [RCV001272629]|not provided [RCV000914022] |
Chr8:19961033 [GRCh38]
Chr8:19818544 [GRCh37]
Chr8:8p21.3 |
likely benign|uncertain significance |
| NM_000237.3(LPL):c.828C>T (p.Ile276=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002427246]|not provided [RCV000890967] |
Chr8:19955893 [GRCh38]
Chr8:19813404 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1428-207del |
deletion |
not provided [RCV001620794] |
Chr8:19965103 [GRCh38]
Chr8:19822614 [GRCh37]
Chr8:8p21.3 |
benign |
| NM_000237.3(LPL):c.250-256C>G |
single nucleotide variant |
not provided [RCV001577423] |
Chr8:19951513 [GRCh38]
Chr8:19809024 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1401C>A (p.Asp467Glu) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001578621] |
Chr8:19962193 [GRCh38]
Chr8:19819704 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.721C>T (p.Pro241Ser) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001619762]|not provided [RCV005094853] |
Chr8:19954299 [GRCh38]
Chr8:19811810 [GRCh37]
Chr8:8p21.3 |
pathogenic|likely pathogenic |
| NM_000237.3(LPL):c.775+33C>G |
single nucleotide variant |
not provided [RCV001644086] |
Chr8:19954386 [GRCh38]
Chr8:19811897 [GRCh37]
Chr8:8p21.3 |
benign |
| NM_000237.3(LPL):c.541+228T>C |
single nucleotide variant |
not provided [RCV001656598] |
Chr8:19953649 [GRCh38]
Chr8:19811160 [GRCh37]
Chr8:8p21.3 |
benign |
| NM_000237.3(LPL):c.776-53A>G |
single nucleotide variant |
not provided [RCV001654602] |
Chr8:19955788 [GRCh38]
Chr8:19813299 [GRCh37]
Chr8:8p21.3 |
benign |
| NM_000237.3(LPL):c.1139+43T>C |
single nucleotide variant |
not provided [RCV001688083] |
Chr8:19959423 [GRCh38]
Chr8:19816934 [GRCh37]
Chr8:8p21.3 |
benign |
| NM_000237.3(LPL):c.542-214C>T |
single nucleotide variant |
not provided [RCV001654680] |
Chr8:19953906 [GRCh38]
Chr8:19811417 [GRCh37]
Chr8:8p21.3 |
benign |
| GRCh37/hg19 8p21.3(chr8:19334399-19809695)x3 |
copy number gain |
not provided [RCV001006086] |
Chr8:19334399..19809695 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.541+74T>C |
single nucleotide variant |
not provided [RCV001637538] |
Chr8:19953495 [GRCh38]
Chr8:19811006 [GRCh37]
Chr8:8p21.3 |
benign |
| NM_000237.3(LPL):c.1322+179G>T |
single nucleotide variant |
not provided [RCV001656461] |
Chr8:19961262 [GRCh38]
Chr8:19818773 [GRCh37]
Chr8:8p21.3 |
benign |
| NM_000237.3(LPL):c.439A>C (p.Asn147His) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001160571] |
Chr8:19953319 [GRCh38]
Chr8:19810830 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.*547T>C |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001160675] |
Chr8:19965857 [GRCh38]
Chr8:19823368 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.*729A>G |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001162287] |
Chr8:19966039 [GRCh38]
Chr8:19823550 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.*831G>A |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001162288] |
Chr8:19966141 [GRCh38]
Chr8:19823652 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.501T>C (p.Ile167=) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001162183]|not provided [RCV002067977] |
Chr8:19953381 [GRCh38]
Chr8:19810892 [GRCh37]
Chr8:8p21.3 |
likely benign|uncertain significance |
| NM_000237.3(LPL):c.1427+15C>A |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001159309]|not provided [RCV003769766] |
Chr8:19962234 [GRCh38]
Chr8:19819745 [GRCh37]
Chr8:8p21.3 |
likely benign|uncertain significance |
| NM_000237.3(LPL):c.*29G>A |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001159310] |
Chr8:19965339 [GRCh38]
Chr8:19822850 [GRCh37]
Chr8:8p21.3 |
benign |
| NM_000237.3(LPL):c.*135C>A |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001159311] |
Chr8:19965445 [GRCh38]
Chr8:19822956 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.*221C>T |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001159312] |
Chr8:19965531 [GRCh38]
Chr8:19823042 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.*1387T>C |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001159402]|not provided [RCV004706046] |
Chr8:19966697 [GRCh38]
Chr8:19824208 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.*648A>T |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001160676] |
Chr8:19965958 [GRCh38]
Chr8:19823469 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.*1394A>C |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001160768] |
Chr8:19966704 [GRCh38]
Chr8:19824215 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.775+103C>T |
single nucleotide variant |
not provided [RCV001708226] |
Chr8:19954456 [GRCh38]
Chr8:19811967 [GRCh37]
Chr8:8p21.3 |
benign |
| NM_000237.3(LPL):c.89-196T>G |
single nucleotide variant |
not provided [RCV001671978] |
Chr8:19947984 [GRCh38]
Chr8:19805495 [GRCh37]
Chr8:8p21.3 |
benign |
| NM_000237.3(LPL):c.541+92TG[4] |
microsatellite |
not provided [RCV001533982] |
Chr8:19953512..19953513 [GRCh38]
Chr8:19811023..19811024 [GRCh37]
Chr8:8p21.3 |
benign |
| NM_000237.3(LPL):c.1428-11C>T |
single nucleotide variant |
not provided [RCV001680143]|not specified [RCV001796692] |
Chr8:19965299 [GRCh38]
Chr8:19822810 [GRCh37]
Chr8:8p21.3 |
benign |
| NM_000237.3(LPL):c.1018+73T>G |
single nucleotide variant |
not provided [RCV001709424] |
Chr8:19956156 [GRCh38]
Chr8:19813667 [GRCh37]
Chr8:8p21.3 |
benign |
| NC_000008.11:g.19967357G>A |
single nucleotide variant |
not provided [RCV001611621] |
Chr8:19967357 [GRCh38]
Chr8:19967357..19967358 [GRCh38]
Chr8:19824868 [GRCh37]
Chr8:19824868..19824869 [GRCh37]
Chr8:8p21.3 |
benign |
| NM_000237.3(LPL):c.542-130C>A |
single nucleotide variant |
not provided [RCV001546410] |
Chr8:19953990 [GRCh38]
Chr8:19811501 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1018+334C>G |
single nucleotide variant |
not provided [RCV001668755] |
Chr8:19956417 [GRCh38]
Chr8:19813928 [GRCh37]
Chr8:8p21.3 |
benign |
| NM_000237.3(LPL):c.648C>T (p.Ser216=) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001162185]|not provided [RCV002559550] |
Chr8:19954226 [GRCh38]
Chr8:19811737 [GRCh37]
Chr8:8p21.3 |
likely benign|uncertain significance |
| NM_000237.3(LPL):c.*1743G>A |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001162391] |
Chr8:19967053 [GRCh38]
Chr8:19824564 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.*1749T>C |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001162392] |
Chr8:19967059 [GRCh38]
Chr8:19824570 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.*1788T>C |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001162393] |
Chr8:19967098 [GRCh38]
Chr8:19824609 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.*1797G>A |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001162395] |
Chr8:19967107 [GRCh38]
Chr8:19824618 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.430-125A>C |
single nucleotide variant |
not provided [RCV001547692] |
Chr8:19953185 [GRCh38]
Chr8:19810696 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.995C>T (p.Thr332Ile) |
single nucleotide variant |
not provided [RCV001574558] |
Chr8:19956060 [GRCh38]
Chr8:19813571 [GRCh37]
Chr8:8p21.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000237.3(LPL):c.1139+1G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002322168]|Hyperlipoproteinemia, type I [RCV001250243] |
Chr8:19959381 [GRCh38]
Chr8:19816892 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.36C>A (p.Ala12=) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001159214] |
Chr8:19939476 [GRCh38]
Chr8:19796987 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1160_1161insT (p.Lys387fs) |
insertion |
Hyperlipoproteinemia, type I [RCV001250245] |
Chr8:19960921..19960922 [GRCh38]
Chr8:19818432..19818433 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.*389C>G |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001160673] |
Chr8:19965699 [GRCh38]
Chr8:19823210 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.*455C>A |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001160674] |
Chr8:19965765 [GRCh38]
Chr8:19823276 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.*1793G>A |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001162394] |
Chr8:19967103 [GRCh38]
Chr8:19824614 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.929G>A (p.Cys310Tyr) |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV001537868]|Hyperlipoproteinemia, type I [RCV001257912] |
Chr8:19955994 [GRCh38]
Chr8:19813505 [GRCh37]
Chr8:8p21.3 |
pathogenic|likely pathogenic |
| NM_000237.3(LPL):c.1051G>A (p.Gly351Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002402805]|Hyperlipoproteinemia, type I [RCV001835356]|not provided [RCV001587307] |
Chr8:19959292 [GRCh38]
Chr8:19816803 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) |
copy number gain |
Polydactyly [RCV002280629] |
Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| NM_000237.3(LPL):c.320A>G (p.Asn107Ser) |
single nucleotide variant |
not provided [RCV001256679] |
Chr8:19951839 [GRCh38]
Chr8:19809350 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1216A>T (p.Lys406Ter) |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV001332298]|Hyperlipoproteinemia, type I [RCV003992499] |
Chr8:19960977 [GRCh38]
Chr8:19818488 [GRCh37]
Chr8:8p21.3 |
pathogenic|uncertain significance |
| NM_000237.3(LPL):c.991A>G (p.Lys331Glu) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001332300]|Lipase deficiency, combined [RCV003987837]|not provided [RCV003236892] |
Chr8:19956056 [GRCh38]
Chr8:19813567 [GRCh37]
Chr8:8p21.3 |
pathogenic|likely pathogenic |
| NM_000237.3(LPL):c.804C>G (p.His268Gln) |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV001262712] |
Chr8:19955869 [GRCh38]
Chr8:19813380 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3 |
copy number gain |
not provided [RCV001260030] |
Chr8:12528482..29886483 [GRCh37]
Chr8:8p23.1-12 |
likely pathogenic |
| NM_000237.3(LPL):c.1307G>A (p.Gly436Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV001267601] |
Chr8:19961068 [GRCh38]
Chr8:19818579 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.213C>T (p.His71=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002432173]|not provided [RCV001422958] |
Chr8:19948304 [GRCh38]
Chr8:19805815 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1019-6C>A |
single nucleotide variant |
not provided [RCV001422271] |
Chr8:19959254 [GRCh38]
Chr8:19816765 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1263G>A (p.Trp421Ter) |
single nucleotide variant |
not provided [RCV001382487] |
Chr8:19961024 [GRCh38]
Chr8:19818535 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.313G>A (p.Asp105Asn) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001279448]|not specified [RCV004769995] |
Chr8:19951832 [GRCh38]
Chr8:19809343 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.487C>T (p.His163Tyr) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001332299] |
Chr8:19953367 [GRCh38]
Chr8:19810878 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1080G>A (p.Gln360=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004037723]|not provided [RCV001392481] |
Chr8:19959321 [GRCh38]
Chr8:19816832 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.621C>T (p.Asp207=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002368249]|LPL-related disorder [RCV003973234]|not provided [RCV001397642] |
Chr8:19954199 [GRCh38]
Chr8:19811710 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1207C>T (p.Leu403Phe) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001279449]|not specified [RCV004769996] |
Chr8:19960968 [GRCh38]
Chr8:19818479 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) |
copy number gain |
Abnormal fetal cardiovascular morphology [RCV001291977] |
Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1 |
pathogenic |
| NM_000237.3(LPL):c.1234G>A (p.Asp412Asn) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001279450] |
Chr8:19960995 [GRCh38]
Chr8:19818506 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.84C>G (p.Ala28=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004035487]|Hyperlipoproteinemia, type I [RCV001279447]|not provided [RCV001442245] |
Chr8:19939524 [GRCh38]
Chr8:19797035 [GRCh37]
Chr8:8p21.3 |
likely benign|uncertain significance |
| NM_000237.3(LPL):c.105C>A (p.Ile35=) |
single nucleotide variant |
not provided [RCV001395631] |
Chr8:19948196 [GRCh38]
Chr8:19805707 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.891T>C (p.Phe297=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002449175]|not provided [RCV001435549] |
Chr8:19955956 [GRCh38]
Chr8:19813467 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.744T>C (p.Ala248=) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001836421]|not provided [RCV001494595] |
Chr8:19954322 [GRCh38]
Chr8:19811833 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.89-4C>A |
single nucleotide variant |
not provided [RCV001440961] |
Chr8:19948176 [GRCh38]
Chr8:19805687 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1137T>A (p.Thr379=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002456814]|not provided [RCV001469853] |
Chr8:19959378 [GRCh38]
Chr8:19816889 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.291C>T (p.Ala97=) |
single nucleotide variant |
not provided [RCV001479322] |
Chr8:19951810 [GRCh38]
Chr8:19809321 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.192G>A (p.Val64=) |
single nucleotide variant |
not provided [RCV001441119] |
Chr8:19948283 [GRCh38]
Chr8:19805794 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1323-5C>T |
single nucleotide variant |
not provided [RCV001404783] |
Chr8:19962110 [GRCh38]
Chr8:19819621 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.295C>T (p.Leu99=) |
single nucleotide variant |
not provided [RCV001430620] |
Chr8:19951814 [GRCh38]
Chr8:19809325 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.489T>C (p.His163=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003160835]|not provided [RCV001454095] |
Chr8:19953369 [GRCh38]
Chr8:19810880 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.585G>A (p.Pro195=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002359103]|not provided [RCV001492629] |
Chr8:19954163 [GRCh38]
Chr8:19811674 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1062T>C (p.Ser354=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002413945]|not provided [RCV001400220] |
Chr8:19959303 [GRCh38]
Chr8:19816814 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.684G>T (p.Gly228=) |
single nucleotide variant |
not provided [RCV001441841] |
Chr8:19954262 [GRCh38]
Chr8:19811773 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1293C>T (p.Ile431=) |
single nucleotide variant |
not provided [RCV001471732] |
Chr8:19961054 [GRCh38]
Chr8:19818565 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.966C>A (p.Ala322=) |
single nucleotide variant |
not provided [RCV001477167] |
Chr8:19956031 [GRCh38]
Chr8:19813542 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.9C>T (p.Ser3=) |
single nucleotide variant |
not provided [RCV001489097] |
Chr8:19939449 [GRCh38]
Chr8:19796960 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1374A>C (p.Ala458=) |
single nucleotide variant |
not provided [RCV001491628] |
Chr8:19962166 [GRCh38]
Chr8:19819677 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.250-6C>T |
single nucleotide variant |
not provided [RCV001466528] |
Chr8:19951763 [GRCh38]
Chr8:19809274 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.123T>C (p.Phe41=) |
single nucleotide variant |
not provided [RCV001469529] |
Chr8:19948214 [GRCh38]
Chr8:19805725 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1003C>T (p.Gln335Ter) |
single nucleotide variant |
not provided [RCV001390730] |
Chr8:19956068 [GRCh38]
Chr8:19813579 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.1213T>C (p.Leu405=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002359129]|not provided [RCV001503819] |
Chr8:19960974 [GRCh38]
Chr8:19818485 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.387A>G (p.Lys129=) |
single nucleotide variant |
not provided [RCV001484465] |
Chr8:19951906 [GRCh38]
Chr8:19809417 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.270T>C (p.Ser90=) |
single nucleotide variant |
not provided [RCV001440519] |
Chr8:19951789 [GRCh38]
Chr8:19809300 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.429+9G>A |
single nucleotide variant |
not provided [RCV001393856] |
Chr8:19951957 [GRCh38]
Chr8:19809468 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1322+483T>G |
single nucleotide variant |
not provided [RCV001513263] |
Chr8:19961566 [GRCh38]
Chr8:19961566..19961567 [GRCh38]
Chr8:19819077 [GRCh37]
Chr8:19819077..19819078 [GRCh37]
Chr8:8p21.3 |
benign |
| NM_000237.3(LPL):c.1323-90T>G |
single nucleotide variant |
not provided [RCV001513267] |
Chr8:19962025 [GRCh38]
Chr8:19819536 [GRCh37]
Chr8:8p21.3 |
benign |
| NC_000008.11:g.19967385T>G |
single nucleotide variant |
not provided [RCV001539082] |
Chr8:19967385 [GRCh38]
Chr8:19824896 [GRCh37]
Chr8:8p21.3 |
benign |
| NM_000237.3(LPL):c.1257C>T (p.Asp419=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002420992]|not provided [RCV001439544] |
Chr8:19961018 [GRCh38]
Chr8:19818529 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.555T>C (p.Ala185=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002350784]|not provided [RCV001409791] |
Chr8:19954133 [GRCh38]
Chr8:19811644 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.162C>T (p.Cys54=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003170021]|not provided [RCV001405264] |
Chr8:19948253 [GRCh38]
Chr8:19805764 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.372C>T (p.Ser124=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004629632]|not provided [RCV001409948] |
Chr8:19951891 [GRCh38]
Chr8:19809402 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.661A>T (p.Ile221Phe) |
single nucleotide variant |
not provided [RCV001377055] |
Chr8:19954239 [GRCh38]
Chr8:19811750 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.702G>T (p.Pro234=) |
single nucleotide variant |
not provided [RCV001437814] |
Chr8:19954280 [GRCh38]
Chr8:19811791 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.618A>G (p.Val206=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002357328]|not provided [RCV001401151] |
Chr8:19954196 [GRCh38]
Chr8:19811707 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.15C>G (p.Ala5=) |
single nucleotide variant |
not provided [RCV001447672] |
Chr8:19939455 [GRCh38]
Chr8:19796966 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NC_000008.10:g.(?_19796711)_(19824563_?)del |
deletion |
not provided [RCV001390915] |
Chr8:19796711..19824563 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NC_000008.10:g.(?_19810811)_(19811874_?)del |
deletion |
not provided [RCV001390916] |
Chr8:19810811..19811874 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.429+8T>A |
single nucleotide variant |
not provided [RCV001404015] |
Chr8:19951956 [GRCh38]
Chr8:19809467 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.783C>T (p.Asp261=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003160805]|not provided [RCV001447644] |
Chr8:19955848 [GRCh38]
Chr8:19813359 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.549T>C (p.Asp183=) |
single nucleotide variant |
not provided [RCV001416359] |
Chr8:19954127 [GRCh38]
Chr8:19811638 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.60C>T (p.Ala20=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002357332]|not provided [RCV001402671] |
Chr8:19939500 [GRCh38]
Chr8:19797011 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.417C>T (p.Ile139=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003160721]|not provided [RCV001429723] |
Chr8:19951936 [GRCh38]
Chr8:19809447 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1113C>T (p.Ala371=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002439057]|not provided [RCV001447987] |
Chr8:19959354 [GRCh38]
Chr8:19816865 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.474C>G (p.Tyr158Ter) |
single nucleotide variant |
not provided [RCV001380878] |
Chr8:19953354 [GRCh38]
Chr8:19810865 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.375G>C (p.Ala125=) |
single nucleotide variant |
not provided [RCV001440640] |
Chr8:19951894 [GRCh38]
Chr8:19809405 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1172_1175del (p.Ser390_Phe391insTer) |
microsatellite |
not provided [RCV001389143] |
Chr8:19960929..19960932 [GRCh38]
Chr8:19818440..19818443 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.1191A>G (p.Val397=) |
single nucleotide variant |
not provided [RCV001406607] |
Chr8:19960952 [GRCh38]
Chr8:19818463 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.807G>A (p.Glu269=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002421078]|not provided [RCV001472530] |
Chr8:19955872 [GRCh38]
Chr8:19813383 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1275C>A (p.Gly425=) |
single nucleotide variant |
not provided [RCV001498750] |
Chr8:19961036 [GRCh38]
Chr8:19818547 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.372C>G (p.Ser124=) |
single nucleotide variant |
not provided [RCV001457639] |
Chr8:19951891 [GRCh38]
Chr8:19809402 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1427+9T>C |
single nucleotide variant |
not provided [RCV001502571] |
Chr8:19962228 [GRCh38]
Chr8:19819739 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.72G>C (p.Gly24=) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001832627]|not provided [RCV001481958] |
Chr8:19939512 [GRCh38]
Chr8:19797023 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.286G>C (p.Val96Leu) |
single nucleotide variant |
not provided [RCV001699858] |
Chr8:19951805 [GRCh38]
Chr8:19809316 [GRCh37]
Chr8:8p21.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000237.3(LPL):c.340C>T (p.Leu114=) |
single nucleotide variant |
not provided [RCV001476591] |
Chr8:19951859 [GRCh38]
Chr8:19809370 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1018+82C>A |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001832828]|not provided [RCV001609219] |
Chr8:19956165 [GRCh38]
Chr8:19813676 [GRCh37]
Chr8:8p21.3 |
benign |
| NM_000237.3(LPL):c.462T>C (p.His154=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002342031]|not provided [RCV001462604] |
Chr8:19953342 [GRCh38]
Chr8:19810853 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1018+108G>A |
single nucleotide variant |
not provided [RCV001716265] |
Chr8:19956191 [GRCh38]
Chr8:19813702 [GRCh37]
Chr8:8p21.3 |
benign |
| NM_000237.3(LPL):c.249+78A>G |
single nucleotide variant |
not provided [RCV001654544] |
Chr8:19948418 [GRCh38]
Chr8:19805929 [GRCh37]
Chr8:8p21.3 |
benign |
| NM_000237.3(LPL):c.264T>C (p.Tyr88=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004038548]|not provided [RCV001455717] |
Chr8:19951783 [GRCh38]
Chr8:19809294 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.321T>C (p.Asn107=) |
single nucleotide variant |
not provided [RCV001459862] |
Chr8:19951840 [GRCh38]
Chr8:19809351 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.775+80A>G |
single nucleotide variant |
not provided [RCV001616074] |
Chr8:19954433 [GRCh38]
Chr8:19811944 [GRCh37]
Chr8:8p21.3 |
benign |
| NM_000237.3(LPL):c.105C>T (p.Ile35=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002405174]|not provided [RCV001497550] |
Chr8:19948196 [GRCh38]
Chr8:19805707 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.430-30A>C |
single nucleotide variant |
not provided [RCV001708372] |
Chr8:19953280 [GRCh38]
Chr8:19810791 [GRCh37]
Chr8:8p21.3 |
benign |
| NM_000237.3(LPL):c.1098G>A (p.Leu366=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004641656]|not provided [RCV001477990] |
Chr8:19959339 [GRCh38]
Chr8:19816850 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1018+34A>G |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV002488323]|Hyperlipoproteinemia, type I [RCV001832687]|LPL-related disorder [RCV003966081]|not provided [RCV001513258] |
Chr8:19956117 [GRCh38]
Chr8:19813628 [GRCh37]
Chr8:8p21.3 |
benign|likely benign |
| NM_000237.3(LPL):c.1428-127T>C |
single nucleotide variant |
not provided [RCV001682583] |
Chr8:19965183 [GRCh38]
Chr8:19822694 [GRCh37]
Chr8:8p21.3 |
benign |
| NM_000237.3(LPL):c.1035A>T (p.Val345=) |
single nucleotide variant |
not provided [RCV001460988] |
Chr8:19959276 [GRCh38]
Chr8:19816787 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.547G>A (p.Asp183Asn) |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV002246352]|Hyperlipoproteinemia, type I [RCV001732177]|not provided [RCV001377679] |
Chr8:19954125 [GRCh38]
Chr8:19811636 [GRCh37]
Chr8:8p21.3 |
pathogenic|likely pathogenic |
| NM_000237.3(LPL):c.805G>A (p.Glu269Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002420853]|Hyperlipoproteinemia, type I [RCV001831346]|not provided [RCV001377680] |
Chr8:19955870 [GRCh38]
Chr8:19813381 [GRCh37]
Chr8:8p21.3 |
pathogenic|likely pathogenic |
| NM_000237.3(LPL):c.250-8A>G |
single nucleotide variant |
not provided [RCV001419018] |
Chr8:19951761 [GRCh38]
Chr8:19809272 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1038G>A (p.Lys346=) |
single nucleotide variant |
not provided [RCV001486878] |
Chr8:19959279 [GRCh38]
Chr8:19816790 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.775+8T>C |
single nucleotide variant |
not provided [RCV001473076] |
Chr8:19954361 [GRCh38]
Chr8:19811872 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.879C>A (p.Ser293=) |
single nucleotide variant |
not provided [RCV001499946] |
Chr8:19955944 [GRCh38]
Chr8:19813455 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.89-7T>G |
single nucleotide variant |
not provided [RCV001405772] |
Chr8:19948173 [GRCh38]
Chr8:19805684 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.466T>C (p.Leu156=) |
single nucleotide variant |
not provided [RCV001458391] |
Chr8:19953346 [GRCh38]
Chr8:19810857 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.776-7T>C |
single nucleotide variant |
not provided [RCV001487807] |
Chr8:19955834 [GRCh38]
Chr8:19813345 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.174C>T (p.Pro58=) |
single nucleotide variant |
not provided [RCV001486754] |
Chr8:19948265 [GRCh38]
Chr8:19805776 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.474C>T (p.Tyr158=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002329532]|not provided [RCV001460517] |
Chr8:19953354 [GRCh38]
Chr8:19810865 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.765_766del (p.Gly256fs) |
microsatellite |
Hyperlipoproteinemia, type I [RCV001526865]|not provided [RCV002538389] |
Chr8:19954337..19954338 [GRCh38]
Chr8:19811848..19811849 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.430-10T>C |
single nucleotide variant |
not provided [RCV001397818] |
Chr8:19953300 [GRCh38]
Chr8:19810811 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.88+10G>A |
single nucleotide variant |
not provided [RCV001466038] |
Chr8:19939538 [GRCh38]
Chr8:19797049 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.775+7A>G |
single nucleotide variant |
not provided [RCV001423508] |
Chr8:19954360 [GRCh38]
Chr8:19811871 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1427+10C>T |
single nucleotide variant |
not provided [RCV001400014] |
Chr8:19962229 [GRCh38]
Chr8:19819740 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1377T>C (p.Pro459=) |
single nucleotide variant |
not provided [RCV001427970] |
Chr8:19962169 [GRCh38]
Chr8:19819680 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.541G>C (p.Gly181Arg) |
single nucleotide variant |
not provided [RCV001385519] |
Chr8:19953421 [GRCh38]
Chr8:19810932 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.525A>G (p.Lys175=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002341920]|not provided [RCV001425786]|not specified [RCV004699375] |
Chr8:19953405 [GRCh38]
Chr8:19810916 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1092T>A (p.Ile364=) |
single nucleotide variant |
not provided [RCV001407156] |
Chr8:19959333 [GRCh38]
Chr8:19816844 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.15C>A (p.Ala5=) |
single nucleotide variant |
not provided [RCV001416679] |
Chr8:19939455 [GRCh38]
Chr8:19796966 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1018+7T>G |
single nucleotide variant |
not provided [RCV001424145] |
Chr8:19956090 [GRCh38]
Chr8:19813601 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1427+7A>C |
single nucleotide variant |
not provided [RCV001450341] |
Chr8:19962226 [GRCh38]
Chr8:19819737 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.777T>C (p.Asp259=) |
single nucleotide variant |
not provided [RCV001459727] |
Chr8:19955842 [GRCh38]
Chr8:19813353 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1323-298T>C |
single nucleotide variant |
not provided [RCV001528041] |
Chr8:19961817 [GRCh38]
Chr8:19819328 [GRCh37]
Chr8:8p21.3 |
benign |
| NM_000237.3(LPL):c.546C>G (p.Leu182=) |
single nucleotide variant |
not provided [RCV001482551] |
Chr8:19954124 [GRCh38]
Chr8:19811635 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.685C>G (p.His229Asp) |
single nucleotide variant |
not provided [RCV004793750]|not specified [RCV002247957] |
Chr8:19954263 [GRCh38]
Chr8:19811774 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1306G>C (p.Gly436Arg) |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV002249096] |
Chr8:19961067 [GRCh38]
Chr8:19818578 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.691G>A (p.Asp231Asn) |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV002250097] |
Chr8:19954269 [GRCh38]
Chr8:19811780 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.862G>C (p.Ala288Pro) |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV002250098]|not provided [RCV003565507] |
Chr8:19955927 [GRCh38]
Chr8:19813438 [GRCh37]
Chr8:8p21.3 |
pathogenic|uncertain significance |
| NM_000237.3(LPL):c.984G>T (p.Met328Ile) |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV002250099]|not provided [RCV003560886] |
Chr8:19956049 [GRCh38]
Chr8:19813560 [GRCh37]
Chr8:8p21.3 |
pathogenic|likely pathogenic |
| NM_000237.3(LPL):c.622G>A (p.Val208Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV004992558]|not provided [RCV003108273] |
Chr8:19954200 [GRCh38]
Chr8:19811711 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.925del (p.Arg309fs) |
deletion |
Hyperlipoproteinemia, type I [RCV003127194] |
Chr8:19955989 [GRCh38]
Chr8:19813500 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.248C>T (p.Thr83Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV003164351]|Hyperlipidemia, familial combined, LPL related [RCV005042755]|not specified [RCV002247951] |
Chr8:19948339 [GRCh38]
Chr8:19805850 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.572A>T (p.Tyr191Phe) |
single nucleotide variant |
not specified [RCV002247954] |
Chr8:19954150 [GRCh38]
Chr8:19811661 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.329TGG[1] (p.Val111del) |
microsatellite |
Cardiovascular phenotype [RCV004995990]|not provided [RCV001767339] |
Chr8:19951847..19951849 [GRCh38]
Chr8:19809358..19809360 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.767_768insTAAATATT (p.Leu257fs) |
insertion |
not provided [RCV001783611] |
Chr8:19954345..19954346 [GRCh38]
Chr8:19811856..19811857 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.885A>C (p.Glu295Asp) |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV002477986]|not provided [RCV001771451] |
Chr8:19955950 [GRCh38]
Chr8:19813461 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.733del (p.Ile245fs) |
deletion |
not provided [RCV001782394] |
Chr8:19954311 [GRCh38]
Chr8:19811822 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.541+1G>A |
single nucleotide variant |
not provided [RCV001782395] |
Chr8:19953422 [GRCh38]
Chr8:19810933 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.958G>T (p.Val320Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002386513]|not provided [RCV001754064] |
Chr8:19956023 [GRCh38]
Chr8:19813534 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1136C>G (p.Thr379Ser) |
single nucleotide variant |
not provided [RCV001753979] |
Chr8:19959377 [GRCh38]
Chr8:19816888 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1315C>T (p.Gln439Ter) |
single nucleotide variant |
not provided [RCV001782396] |
Chr8:19961076 [GRCh38]
Chr8:19818587 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.1394G>A (p.Cys465Tyr) |
single nucleotide variant |
not specified [RCV001732816] |
Chr8:19962186 [GRCh38]
Chr8:19819697 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.686A>G (p.His229Arg) |
single nucleotide variant |
not provided [RCV001757810] |
Chr8:19954264 [GRCh38]
Chr8:19811775 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.370T>C (p.Ser124Pro) |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV001808144]|not provided [RCV001869582] |
Chr8:19951889 [GRCh38]
Chr8:19809400 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1139+7A>G |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV005042469]|not provided [RCV001896321] |
Chr8:19959387 [GRCh38]
Chr8:19816898 [GRCh37]
Chr8:8p21.3 |
likely pathogenic|uncertain significance |
| NM_000237.3(LPL):c.1123A>G (p.Asn375Asp) |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV002478075]|not specified [RCV001844472] |
Chr8:19959364 [GRCh38]
Chr8:19816875 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.634T>C (p.Phe212Leu) |
single nucleotide variant |
not provided [RCV001926719]|not specified [RCV004699560] |
Chr8:19954212 [GRCh38]
Chr8:19811723 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1322+1G>C |
single nucleotide variant |
not provided [RCV001926403] |
Chr8:19961084 [GRCh38]
Chr8:19818595 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.138del (p.Glu47fs) |
deletion |
not provided [RCV001893803] |
Chr8:19948229 [GRCh38]
Chr8:19805740 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.590G>T (p.Arg197Leu) |
single nucleotide variant |
not provided [RCV002007537] |
Chr8:19954168 [GRCh38]
Chr8:19811679 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.10_19del (p.Lys4fs) |
deletion |
not provided [RCV001970159] |
Chr8:19939448..19939457 [GRCh38]
Chr8:19796959..19796968 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.242G>A (p.Gly81Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV003299025]|Hyperlipidemia, familial combined, LPL related [RCV002246536]|Hyperlipoproteinemia, type I [RCV001823501] |
Chr8:19948333 [GRCh38]
Chr8:19805844 [GRCh37]
Chr8:8p21.3 |
pathogenic|likely pathogenic |
| NM_000237.3(LPL):c.1103G>A (p.Gly368Asp) |
single nucleotide variant |
not provided [RCV002005303] |
Chr8:19959344 [GRCh38]
Chr8:19816855 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.589C>T (p.Arg197Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002352679]|not provided [RCV001966950] |
Chr8:19954167 [GRCh38]
Chr8:19811678 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.688del (p.Val230fs) |
deletion |
Hyperlipidemia, familial combined, LPL related [RCV002490029]|not provided [RCV001944569] |
Chr8:19954266 [GRCh38]
Chr8:19811777 [GRCh37]
Chr8:8p21.3 |
pathogenic|likely pathogenic |
| NM_000237.3(LPL):c.1201G>C (p.Glu401Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV003167382]|not provided [RCV001962611] |
Chr8:19960962 [GRCh38]
Chr8:19818473 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1092T>C (p.Ile364=) |
single nucleotide variant |
not provided [RCV001963115] |
Chr8:19959333 [GRCh38]
Chr8:19816844 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NC_000008.10:g.(?_16850399)_(20112692_?)dup |
duplication |
Hereditary spastic paraplegia 53 [RCV003120735] |
Chr8:16850399..20112692 [GRCh37]
Chr8:8p22-21.3 |
uncertain significance |
| NC_000008.10:g.(?_19263291)_(20112692_?)dup |
duplication |
not provided [RCV001885785] |
Chr8:19263291..20112692 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.680T>G (p.Val227Gly) |
single nucleotide variant |
not provided [RCV001906639] |
Chr8:19954258 [GRCh38]
Chr8:19811769 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.572_588del (p.Tyr191fs) |
deletion |
not provided [RCV001933736] |
Chr8:19954146..19954162 [GRCh38]
Chr8:19811657..19811673 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.932del (p.Asn311fs) |
deletion |
not provided [RCV001931017] |
Chr8:19955996 [GRCh38]
Chr8:19813507 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.811del (p.Ser271fs) |
deletion |
not provided [RCV001878743] |
Chr8:19955876 [GRCh38]
Chr8:19813387 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.808C>G (p.Arg270Gly) |
single nucleotide variant |
not provided [RCV002015579] |
Chr8:19955873 [GRCh38]
Chr8:19813384 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.46_47del (p.Gln16fs) |
deletion |
not provided [RCV001971967] |
Chr8:19939486..19939487 [GRCh38]
Chr8:19796997..19796998 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.383C>A (p.Thr128Asn) |
single nucleotide variant |
not provided [RCV002027644] |
Chr8:19951902 [GRCh38]
Chr8:19809413 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.566_567del (p.Asn188_Phe189insTer) |
deletion |
Cardiovascular phenotype [RCV002343994]|not provided [RCV001939710] |
Chr8:19954143..19954144 [GRCh38]
Chr8:19811654..19811655 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.919A>T (p.Lys307Ter) |
single nucleotide variant |
not provided [RCV001956172] |
Chr8:19955984 [GRCh38]
Chr8:19813495 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.89-1G>C |
single nucleotide variant |
not provided [RCV001980924] |
Chr8:19948179 [GRCh38]
Chr8:19805690 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.89-1G>A |
single nucleotide variant |
not provided [RCV001989223] |
Chr8:19948179 [GRCh38]
Chr8:19805690 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.541G>A (p.Gly181Ser) |
single nucleotide variant |
not provided [RCV001972355] |
Chr8:19953421 [GRCh38]
Chr8:19810932 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NC_000008.10:g.(?_19796711)_(19797049_?)del |
deletion |
not provided [RCV001959152] |
Chr8:19796711..19797049 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.1019-3C>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002352653]|Hyperlipoproteinemia, type I [RCV003994365]|not provided [RCV001972752] |
Chr8:19959257 [GRCh38]
Chr8:19816768 [GRCh37]
Chr8:8p21.3 |
pathogenic|likely pathogenic |
| NM_000237.3(LPL):c.1259G>A (p.Trp420Ter) |
single nucleotide variant |
not provided [RCV001997215] |
Chr8:19961020 [GRCh38]
Chr8:19818531 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.763_766del (p.Arg255fs) |
microsatellite |
not provided [RCV001994463] |
Chr8:19954337..19954340 [GRCh38]
Chr8:19811848..19811851 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.355del (p.Glu119fs) |
deletion |
not provided [RCV001958590] |
Chr8:19951873 [GRCh38]
Chr8:19809384 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.985T>C (p.Tyr329His) |
single nucleotide variant |
not provided [RCV002224176] |
Chr8:19956050 [GRCh38]
Chr8:19813561 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1215G>A (p.Leu405=) |
single nucleotide variant |
not provided [RCV002210419] |
Chr8:19960976 [GRCh38]
Chr8:19818487 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.888C>T (p.Ala296=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004990590]|not provided [RCV002092110] |
Chr8:19955953 [GRCh38]
Chr8:19813464 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1311G>A (p.Glu437=) |
single nucleotide variant |
not provided [RCV002186416] |
Chr8:19961072 [GRCh38]
Chr8:19818583 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.252A>T (p.Val84=) |
single nucleotide variant |
not provided [RCV002186231] |
Chr8:19951771 [GRCh38]
Chr8:19809282 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.495T>C (p.Ala165=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004045065]|not provided [RCV002189400] |
Chr8:19953375 [GRCh38]
Chr8:19810886 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1250G>A (p.Trp417Ter) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV003988878]|not provided [RCV002223447] |
Chr8:19961011 [GRCh38]
Chr8:19818522 [GRCh37]
Chr8:8p21.3 |
pathogenic|likely pathogenic |
| NM_000237.3(LPL):c.88+9T>C |
single nucleotide variant |
not provided [RCV002129302] |
Chr8:19939537 [GRCh38]
Chr8:19797048 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1389G>C (p.Val463=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002391212]|not provided [RCV002087896] |
Chr8:19962181 [GRCh38]
Chr8:19819692 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.393G>A (p.Val131=) |
single nucleotide variant |
not provided [RCV002147011] |
Chr8:19951912 [GRCh38]
Chr8:19809423 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.775+19C>A |
single nucleotide variant |
not provided [RCV002166944] |
Chr8:19954372 [GRCh38]
Chr8:19811883 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1374A>T (p.Ala458=) |
single nucleotide variant |
not provided [RCV002074730] |
Chr8:19962166 [GRCh38]
Chr8:19819677 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.108C>T (p.Asp36=) |
single nucleotide variant |
not provided [RCV002169028] |
Chr8:19948199 [GRCh38]
Chr8:19805710 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.267G>A (p.Glu89=) |
single nucleotide variant |
not provided [RCV002190667] |
Chr8:19951786 [GRCh38]
Chr8:19809297 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1322+15T>A |
single nucleotide variant |
not provided [RCV002104633] |
Chr8:19961098 [GRCh38]
Chr8:19818609 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.399G>A (p.Gln133=) |
single nucleotide variant |
not provided [RCV002205334] |
Chr8:19951918 [GRCh38]
Chr8:19809429 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.843T>C (p.Asn281=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002409513]|not provided [RCV002107789]|not specified [RCV003331299] |
Chr8:19955908 [GRCh38]
Chr8:19813419 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1335T>C (p.Cys445=) |
single nucleotide variant |
not provided [RCV002192154] |
Chr8:19962127 [GRCh38]
Chr8:19819638 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.587G>C (p.Ser196Thr) |
single nucleotide variant |
not specified [RCV002247956] |
Chr8:19954165 [GRCh38]
Chr8:19811676 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1380G>A (p.Ala460=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002382325]|not provided [RCV002085352] |
Chr8:19962172 [GRCh38]
Chr8:19819683 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.867C>T (p.Tyr289=) |
single nucleotide variant |
not provided [RCV002210588] |
Chr8:19955932 [GRCh38]
Chr8:19813443 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.795G>A (p.Lys265=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004045707]|not provided [RCV002075487] |
Chr8:19955860 [GRCh38]
Chr8:19813371 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.318C>T (p.Ser106=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002324521]|not provided [RCV002092807] |
Chr8:19951837 [GRCh38]
Chr8:19809348 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1428-19T>A |
single nucleotide variant |
not provided [RCV002079738] |
Chr8:19965291 [GRCh38]
Chr8:19822802 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.775+19C>T |
single nucleotide variant |
not provided [RCV002211520] |
Chr8:19954372 [GRCh38]
Chr8:19811883 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.789A>C (p.Leu263=) |
single nucleotide variant |
not provided [RCV002171877] |
Chr8:19955854 [GRCh38]
Chr8:19813365 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.537T>A (p.Ile179=) |
single nucleotide variant |
not provided [RCV002133107] |
Chr8:19953417 [GRCh38]
Chr8:19810928 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.240T>C (p.His80=) |
single nucleotide variant |
not provided [RCV002197000] |
Chr8:19948331 [GRCh38]
Chr8:19805842 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1245T>C (p.Phe415=) |
single nucleotide variant |
not provided [RCV002117341] |
Chr8:19961006 [GRCh38]
Chr8:19818517 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.33G>T (p.Leu11=) |
single nucleotide variant |
not provided [RCV002195395] |
Chr8:19939473 [GRCh38]
Chr8:19796984 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.444C>T (p.Tyr148=) |
single nucleotide variant |
not provided [RCV002077527] |
Chr8:19953324 [GRCh38]
Chr8:19810835 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.225C>G (p.Thr75=) |
single nucleotide variant |
not provided [RCV002188926] |
Chr8:19948316 [GRCh38]
Chr8:19805827 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.606T>C (p.Asp202=) |
single nucleotide variant |
not provided [RCV002197370] |
Chr8:19954184 [GRCh38]
Chr8:19811695 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.414T>C (p.Phe138=) |
single nucleotide variant |
not provided [RCV002114322] |
Chr8:19951933 [GRCh38]
Chr8:19809444 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1422A>T (p.Ser474=) |
single nucleotide variant |
not provided [RCV002167188] |
Chr8:19962214 [GRCh38]
Chr8:19819725 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.741A>G (p.Glu247=) |
single nucleotide variant |
not provided [RCV002150038] |
Chr8:19954319 [GRCh38]
Chr8:19811830 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.750C>T (p.Arg250=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002391298]|not provided [RCV002106672] |
Chr8:19954328 [GRCh38]
Chr8:19811839 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.775+10_775+11dup |
duplication |
not provided [RCV002213231] |
Chr8:19954361..19954362 [GRCh38]
Chr8:19811872..19811873 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1427+7A>T |
single nucleotide variant |
not provided [RCV002194145] |
Chr8:19962226 [GRCh38]
Chr8:19819737 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1299A>G (p.Val433=) |
single nucleotide variant |
not provided [RCV002096797] |
Chr8:19961060 [GRCh38]
Chr8:19818571 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.542-4T>C |
single nucleotide variant |
not provided [RCV002153387] |
Chr8:19954116 [GRCh38]
Chr8:19811627 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.257G>C (p.Gly86Ala) |
single nucleotide variant |
not specified [RCV002247952] |
Chr8:19951776 [GRCh38]
Chr8:19809287 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.886G>A (p.Ala296Thr) |
single nucleotide variant |
not specified [RCV002247959] |
Chr8:19955951 [GRCh38]
Chr8:19813462 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1314T>G (p.Thr438=) |
single nucleotide variant |
not provided [RCV002142034] |
Chr8:19961075 [GRCh38]
Chr8:19818586 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.633A>G (p.Thr211=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002352839]|not provided [RCV002102946] |
Chr8:19954211 [GRCh38]
Chr8:19811722 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.89-10T>C |
single nucleotide variant |
not provided [RCV002220266] |
Chr8:19948170 [GRCh38]
Chr8:19805681 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1155A>T (p.Thr385=) |
single nucleotide variant |
not provided [RCV002159890] |
Chr8:19960916 [GRCh38]
Chr8:19818427 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.190G>T (p.Val64Leu) |
single nucleotide variant |
not specified [RCV002247950] |
Chr8:19948281 [GRCh38]
Chr8:19805792 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.373G>A (p.Ala125Thr) |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV002481052]|not specified [RCV002247953] |
Chr8:19951892 [GRCh38]
Chr8:19809403 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.877T>C (p.Ser293Pro) |
single nucleotide variant |
not specified [RCV002247958] |
Chr8:19955942 [GRCh38]
Chr8:19813453 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.645G>A (p.Gly215=) |
single nucleotide variant |
not provided [RCV002158243] |
Chr8:19954223 [GRCh38]
Chr8:19811734 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.63C>T (p.Ser21=) |
single nucleotide variant |
not provided [RCV002163783] |
Chr8:19939503 [GRCh38]
Chr8:19797014 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.948G>A (p.Glu316=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002373012]|not provided [RCV002163823] |
Chr8:19956013 [GRCh38]
Chr8:19813524 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1242C>T (p.Tyr414=) |
single nucleotide variant |
not provided [RCV002140467] |
Chr8:19961003 [GRCh38]
Chr8:19818514 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.430-5C>T |
single nucleotide variant |
not provided [RCV002137399] |
Chr8:19953305 [GRCh38]
Chr8:19810816 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.838T>C (p.Leu280=) |
single nucleotide variant |
not provided [RCV002158174] |
Chr8:19955903 [GRCh38]
Chr8:19813414 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1278C>T (p.Phe426=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002443121]|LPL-related disorder [RCV003958541]|not provided [RCV002202140] |
Chr8:19961039 [GRCh38]
Chr8:19818550 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1383A>G (p.Val461=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004990733]|not provided [RCV002200732] |
Chr8:19962175 [GRCh38]
Chr8:19819686 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.45C>G (p.Leu15=) |
single nucleotide variant |
not provided [RCV002136534] |
Chr8:19939485 [GRCh38]
Chr8:19796996 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1416G>A (p.Lys472=) |
single nucleotide variant |
not provided [RCV002123774] |
Chr8:19962208 [GRCh38]
Chr8:19819719 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.831C>T (p.Asp277=) |
single nucleotide variant |
not provided [RCV002178555] |
Chr8:19955896 [GRCh38]
Chr8:19813407 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.776-4C>T |
single nucleotide variant |
not provided [RCV002157455] |
Chr8:19955837 [GRCh38]
Chr8:19813348 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1068C>T (p.Thr356=) |
single nucleotide variant |
not provided [RCV002216519] |
Chr8:19959309 [GRCh38]
Chr8:19816820 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.582C>T (p.Ala194=) |
single nucleotide variant |
not provided [RCV002159626] |
Chr8:19954160 [GRCh38]
Chr8:19811671 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1139+19C>T |
single nucleotide variant |
not provided [RCV002119788] |
Chr8:19959399 [GRCh38]
Chr8:19816910 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1427+7A>G |
single nucleotide variant |
not provided [RCV002177707] |
Chr8:19962226 [GRCh38]
Chr8:19819737 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1140-13C>T |
single nucleotide variant |
not provided [RCV002180043] |
Chr8:19960888 [GRCh38]
Chr8:19818399 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1018+7T>C |
single nucleotide variant |
not provided [RCV002217892] |
Chr8:19956090 [GRCh38]
Chr8:19813601 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.775G>A (p.Asp259Asn) |
single nucleotide variant |
not provided [RCV003110558] |
Chr8:19954353 [GRCh38]
Chr8:19811864 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.309A>G (p.Glu103=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003294617]|not provided [RCV003115151] |
Chr8:19951828 [GRCh38]
Chr8:19809339 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NC_000008.10:g.(?_19818402)_(19824563_?)del |
deletion |
not provided [RCV003122215] |
Chr8:19818402..19824563 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.632C>A (p.Thr211Lys) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV004788581] |
Chr8:19954210 [GRCh38]
Chr8:19811721 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.1342G>A (p.Glu448Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002382482]|not specified [RCV002247960] |
Chr8:19962134 [GRCh38]
Chr8:19819645 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.88+1G>T |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV002250095] |
Chr8:19939529 [GRCh38]
Chr8:19797040 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.925C>T (p.Arg309Cys) |
single nucleotide variant |
not provided [RCV005102448]|not specified [RCV003230895] |
Chr8:19955990 [GRCh38]
Chr8:19813501 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1019-2A>T |
single nucleotide variant |
Cardiovascular phenotype [RCV002352961]|Hyperlipidemia, familial combined, LPL related [RCV004690276]|Hyperlipoproteinemia, type I [RCV002260532] |
Chr8:19959258 [GRCh38]
Chr8:19816769 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.375G>A (p.Ala125=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002349359] |
Chr8:19951894 [GRCh38]
Chr8:19809405 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.33G>A (p.Leu11=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002452051] |
Chr8:19939473 [GRCh38]
Chr8:19796984 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.285T>G (p.Leu95=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002435481]|not provided [RCV003574970] |
Chr8:19951804 [GRCh38]
Chr8:19809315 [GRCh37]
Chr8:8p21.3 |
likely benign |
| GRCh37/hg19 8p21.3-21.2(chr8:19779604-26531980)x4 |
copy number gain |
not provided [RCV002279745] |
Chr8:19779604..26531980 [GRCh37]
Chr8:8p21.3-21.2 |
pathogenic |
| NM_000237.3(LPL):c.1428-80T>A |
single nucleotide variant |
not provided [RCV002286043] |
Chr8:19965230 [GRCh38]
Chr8:19822741 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1426T>C (p.Ter476Arg) |
single nucleotide variant |
not provided [RCV003234374] |
Chr8:19962218 [GRCh38]
Chr8:19819729 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1 |
copy number loss |
See cases [RCV002286343] |
Chr8:158048..30187456 [GRCh37]
Chr8:8p23.3-12 |
pathogenic |
| NM_000237.3(LPL):c.-3G>T |
single nucleotide variant |
not provided [RCV002293800] |
Chr8:19939438 [GRCh38]
Chr8:19796949 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.775+138A>G |
single nucleotide variant |
not provided [RCV002285848] |
Chr8:19954491 [GRCh38]
Chr8:19812002 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1322+2T>G |
single nucleotide variant |
Cardiovascular phenotype [RCV002385709] |
Chr8:19961085 [GRCh38]
Chr8:19818596 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| Single allele |
complex |
8p inverted duplication/deletion syndrome [RCV002280753] |
Chr8:158048..43019304 [GRCh37]
Chr8:8p23.3-11.21 |
pathogenic |
| Single allele |
complex |
See cases [RCV002292428] |
Chr8:6999114..11935023 [GRCh37]
Chr8:8p23.3-11.21 |
pathogenic |
| NM_000237.3(LPL):c.79G>T (p.Ala27Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002419154] |
Chr8:19939519 [GRCh38]
Chr8:19797030 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.300C>T (p.Tyr100=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002435760]|not provided [RCV003730239] |
Chr8:19951819 [GRCh38]
Chr8:19809330 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.8G>A (p.Ser3Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002373078]|not specified [RCV002282815] |
Chr8:19939448 [GRCh38]
Chr8:19796959 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.944A>G (p.Tyr315Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV004314746] |
Chr8:19956009 [GRCh38]
Chr8:19813520 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| GRCh37/hg19 8p21.3(chr8:19734916-20137818)x3 |
copy number gain |
not provided [RCV002474986] |
Chr8:19734916..20137818 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.56C>A (p.Thr19Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002347548] |
Chr8:19939496 [GRCh38]
Chr8:19797007 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.867C>A (p.Tyr289Ter) |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV002466920] |
Chr8:19955932 [GRCh38]
Chr8:19813443 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.465C>T (p.Leu155=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002335100] |
Chr8:19953345 [GRCh38]
Chr8:19810856 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1158T>G (p.Asn386Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002357450]|not provided [RCV004763372] |
Chr8:19960919 [GRCh38]
Chr8:19818430 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1234G>C (p.Asp412His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002364695]|not provided [RCV004774672] |
Chr8:19960995 [GRCh38]
Chr8:19818506 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.789A>G (p.Leu263=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002416605] |
Chr8:19955854 [GRCh38]
Chr8:19813365 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.749G>A (p.Arg250His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002391601] |
Chr8:19954327 [GRCh38]
Chr8:19811838 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1033G>A (p.Val345Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002389396]|not provided [RCV004793811]|not specified [RCV004587351] |
Chr8:19959274 [GRCh38]
Chr8:19816785 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.342G>A (p.Leu114=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002457022]|not provided [RCV003099478] |
Chr8:19951861 [GRCh38]
Chr8:19809372 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.939G>A (p.Leu313=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002373880] |
Chr8:19956004 [GRCh38]
Chr8:19813515 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1275C>G (p.Gly425=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002371419] |
Chr8:19961036 [GRCh38]
Chr8:19818547 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.468G>A (p.Leu156=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002330567]|not provided [RCV003738207] |
Chr8:19953348 [GRCh38]
Chr8:19810859 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.58_71delinsCCTC (p.Ala20fs) |
indel |
Cardiovascular phenotype [RCV002359886] |
Chr8:19939498..19939511 [GRCh38]
Chr8:19797009..19797022 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.949A>T (p.Ile317Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002374097] |
Chr8:19956014 [GRCh38]
Chr8:19813525 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.898_1019-1238dup |
duplication |
Cardiovascular phenotype [RCV002376260] |
Chr8:19955962..19955963 [GRCh38]
Chr8:19813473..19813474 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.834T>A (p.Ser278=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002434712] |
Chr8:19955899 [GRCh38]
Chr8:19813410 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.729T>C (p.Cys243=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002382745]|not provided [RCV003718550] |
Chr8:19954307 [GRCh38]
Chr8:19811818 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.37G>T (p.Val13Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002355177]|not provided [RCV003094369] |
Chr8:19939477 [GRCh38]
Chr8:19796988 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1044T>C (p.His348=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002403417]|not provided [RCV003096924] |
Chr8:19959285 [GRCh38]
Chr8:19816796 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.153G>A (p.Glu51=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002403143]|not provided [RCV003095306] |
Chr8:19948244 [GRCh38]
Chr8:19805755 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.592C>T (p.Leu198Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002355855] |
Chr8:19954170 [GRCh38]
Chr8:19811681 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.128T>A (p.Leu43Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV002383287] |
Chr8:19948219 [GRCh38]
Chr8:19805730 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.598C>T (p.Pro200Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002357873] |
Chr8:19954176 [GRCh38]
Chr8:19811687 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.911G>C (p.Ser304Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002378705] |
Chr8:19955976 [GRCh38]
Chr8:19813487 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1375C>T (p.Pro459Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002383794] |
Chr8:19962167 [GRCh38]
Chr8:19819678 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.914G>C (p.Cys305Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002378798]|Hyperlipidemia, familial combined, LPL related [RCV003322633] |
Chr8:19955979 [GRCh38]
Chr8:19813490 [GRCh37]
Chr8:8p21.3 |
likely pathogenic|uncertain significance |
| NM_000237.3(LPL):c.1049C>T (p.Ser350Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002394831] |
Chr8:19959290 [GRCh38]
Chr8:19816801 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.916A>G (p.Arg306Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002378852] |
Chr8:19955981 [GRCh38]
Chr8:19813492 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.21C>A (p.Leu7=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002425688]|not provided [RCV003098706] |
Chr8:19939461 [GRCh38]
Chr8:19796972 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1273G>A (p.Gly425Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002378888]|not provided [RCV003883817] |
Chr8:19961034 [GRCh38]
Chr8:19818545 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1371G>C (p.Lys457Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002383715] |
Chr8:19962163 [GRCh38]
Chr8:19819674 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1372G>T (p.Ala458Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002383740] |
Chr8:19962164 [GRCh38]
Chr8:19819675 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.386A>C (p.Lys129Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002355586]|Hyperlipidemia, familial combined, LPL related [RCV003228070] |
Chr8:19951905 [GRCh38]
Chr8:19809416 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.89A>G (p.Gln30Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002376318] |
Chr8:19948180 [GRCh38]
Chr8:19805691 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1365A>T (p.Lys455Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002383572] |
Chr8:19962157 [GRCh38]
Chr8:19819668 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1005G>A (p.Gln335=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002408207] |
Chr8:19956070 [GRCh38]
Chr8:19813581 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.31C>T (p.Leu11=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002322959]|not provided [RCV003099285] |
Chr8:19939471 [GRCh38]
Chr8:19796982 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.192G>C (p.Val64=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002410889]|not provided [RCV003097362] |
Chr8:19948283 [GRCh38]
Chr8:19805794 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1385T>C (p.Phe462Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002396518]|not provided [RCV004793809] |
Chr8:19962177 [GRCh38]
Chr8:19819688 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.273G>C (p.Trp91Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002439234] |
Chr8:19951792 [GRCh38]
Chr8:19809303 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.396A>T (p.Gly132=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002375478]|not provided [RCV003102491] |
Chr8:19951915 [GRCh38]
Chr8:19809426 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.3G>A (p.Met1Ile) |
single nucleotide variant |
not provided [RCV002841954] |
Chr8:19939443 [GRCh38]
Chr8:19796954 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.1251G>C (p.Trp417Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV004146992] |
Chr8:19961012 [GRCh38]
Chr8:19818523 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.234G>C (p.Val78=) |
single nucleotide variant |
not provided [RCV002904770] |
Chr8:19948325 [GRCh38]
Chr8:19805836 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1287G>A (p.Gln429=) |
single nucleotide variant |
not provided [RCV003014642] |
Chr8:19961048 [GRCh38]
Chr8:19818559 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.339G>A (p.Trp113Ter) |
single nucleotide variant |
not provided [RCV002996129] |
Chr8:19951858 [GRCh38]
Chr8:19809369 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.1108G>A (p.Val370Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV004068447]|not provided [RCV002994894] |
Chr8:19959349 [GRCh38]
Chr8:19816860 [GRCh37]
Chr8:8p21.3 |
likely benign|uncertain significance |
| NM_000237.3(LPL):c.52C>T (p.Leu18=) |
single nucleotide variant |
not provided [RCV002908074] |
Chr8:19939492 [GRCh38]
Chr8:19797003 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.57C>G (p.Thr19=) |
single nucleotide variant |
not provided [RCV002819839] |
Chr8:19939497 [GRCh38]
Chr8:19797008 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1357T>C (p.Leu453=) |
single nucleotide variant |
not provided [RCV002979281] |
Chr8:19962149 [GRCh38]
Chr8:19819660 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.942del (p.Tyr315fs) |
deletion |
not provided [RCV002871382] |
Chr8:19956007 [GRCh38]
Chr8:19813518 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.1035A>G (p.Val345=) |
single nucleotide variant |
not provided [RCV002740399] |
Chr8:19959276 [GRCh38]
Chr8:19816787 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.594T>C (p.Leu198=) |
single nucleotide variant |
not provided [RCV002889442] |
Chr8:19954172 [GRCh38]
Chr8:19811683 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.834T>C (p.Ser278=) |
single nucleotide variant |
not provided [RCV003100483] |
Chr8:19955899 [GRCh38]
Chr8:19813410 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.239A>G (p.His80Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV004153573] |
Chr8:19948330 [GRCh38]
Chr8:19805841 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.564C>T (p.Asn188=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004064904]|not provided [RCV002820221] |
Chr8:19954142 [GRCh38]
Chr8:19811653 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.792G>A (p.Val264=) |
single nucleotide variant |
not provided [RCV002866290] |
Chr8:19955857 [GRCh38]
Chr8:19813368 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.593T>G (p.Leu198Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV004227234] |
Chr8:19954171 [GRCh38]
Chr8:19811682 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.464T>C (p.Leu155Pro) |
single nucleotide variant |
not specified [RCV002510333] |
Chr8:19953344 [GRCh38]
Chr8:19810855 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.938T>C (p.Leu313Pro) |
single nucleotide variant |
not provided [RCV003037280] |
Chr8:19956003 [GRCh38]
Chr8:19813514 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.434A>G (p.Glu145Gly) |
single nucleotide variant |
not provided [RCV002795166] |
Chr8:19953314 [GRCh38]
Chr8:19810825 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.981A>G (p.Lys327=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003294544]|not provided [RCV002591986] |
Chr8:19956046 [GRCh38]
Chr8:19813557 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.541+17G>T |
single nucleotide variant |
not provided [RCV002820325] |
Chr8:19953438 [GRCh38]
Chr8:19810949 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.374C>T (p.Ala125Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV004131812] |
Chr8:19951893 [GRCh38]
Chr8:19809404 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.497G>T (p.Gly166Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV004173361] |
Chr8:19953377 [GRCh38]
Chr8:19810888 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1302del (p.Ala435fs) |
deletion |
not provided [RCV003040949] |
Chr8:19961060 [GRCh38]
Chr8:19818571 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.996T>C (p.Thr332=) |
single nucleotide variant |
not provided [RCV002741039] |
Chr8:19956061 [GRCh38]
Chr8:19813572 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.898G>C (p.Gly300Arg) |
single nucleotide variant |
not provided [RCV002958269] |
Chr8:19955963 [GRCh38]
Chr8:19813474 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.206T>C (p.Phe69Ser) |
single nucleotide variant |
not provided [RCV002741803] |
Chr8:19948297 [GRCh38]
Chr8:19805808 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1401C>T (p.Asp467=) |
single nucleotide variant |
not provided [RCV002917872] |
Chr8:19962193 [GRCh38]
Chr8:19819704 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.546C>T (p.Leu182=) |
single nucleotide variant |
not provided [RCV002642686] |
Chr8:19954124 [GRCh38]
Chr8:19811635 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.285T>C (p.Leu95=) |
single nucleotide variant |
not provided [RCV003024710]|not specified [RCV004526956] |
Chr8:19951804 [GRCh38]
Chr8:19809315 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.35C>T (p.Ala12Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV003161704]|not provided [RCV003085742] |
Chr8:19939475 [GRCh38]
Chr8:19796986 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1139+20G>T |
single nucleotide variant |
not provided [RCV002572497] |
Chr8:19959400 [GRCh38]
Chr8:19816911 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.69A>G (p.Gly23=) |
single nucleotide variant |
not provided [RCV003005691] |
Chr8:19939509 [GRCh38]
Chr8:19797020 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1379C>T (p.Ala460Val) |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV003228100]|not provided [RCV002918204] |
Chr8:19962171 [GRCh38]
Chr8:19819682 [GRCh37]
Chr8:8p21.3 |
likely benign|uncertain significance |
| NM_000237.3(LPL):c.341T>C (p.Leu114Pro) |
single nucleotide variant |
not provided [RCV003022390] |
Chr8:19951860 [GRCh38]
Chr8:19809371 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1018+9G>C |
single nucleotide variant |
not provided [RCV002642197] |
Chr8:19956092 [GRCh38]
Chr8:19813603 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.102T>C (p.Phe34=) |
single nucleotide variant |
not provided [RCV002829431] |
Chr8:19948193 [GRCh38]
Chr8:19805704 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.88+16A>G |
single nucleotide variant |
not provided [RCV002790808] |
Chr8:19939544 [GRCh38]
Chr8:19797055 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1428-7T>G |
single nucleotide variant |
not provided [RCV003044358] |
Chr8:19965303 [GRCh38]
Chr8:19822814 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.720G>A (p.Gln240=) |
single nucleotide variant |
not provided [RCV003047101] |
Chr8:19954298 [GRCh38]
Chr8:19811809 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1322+9A>G |
single nucleotide variant |
not provided [RCV003031988] |
Chr8:19961092 [GRCh38]
Chr8:19818603 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1182C>T (p.Tyr394=) |
single nucleotide variant |
not provided [RCV002899610] |
Chr8:19960943 [GRCh38]
Chr8:19818454 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1418A>C (p.Lys473Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV004231848] |
Chr8:19962210 [GRCh38]
Chr8:19819721 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.772G>C (p.Gly258Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV004069949] |
Chr8:19954350 [GRCh38]
Chr8:19811861 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.510T>C (p.Ser170=) |
single nucleotide variant |
not provided [RCV003008464] |
Chr8:19953390 [GRCh38]
Chr8:19810901 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.126C>T (p.Ala42=) |
single nucleotide variant |
not provided [RCV002746231] |
Chr8:19948217 [GRCh38]
Chr8:19805728 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.945T>C (p.Tyr315=) |
single nucleotide variant |
not provided [RCV002600548] |
Chr8:19956010 [GRCh38]
Chr8:19813521 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.576A>C (p.Ala192=) |
single nucleotide variant |
not provided [RCV002671035] |
Chr8:19954154 [GRCh38]
Chr8:19811665 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.592C>G (p.Leu198Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV004083741] |
Chr8:19954170 [GRCh38]
Chr8:19811681 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.637A>G (p.Thr213Ala) |
single nucleotide variant |
not provided [RCV003062154] |
Chr8:19954215 [GRCh38]
Chr8:19811726 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.818A>G (p.His273Arg) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV003314049]|not provided [RCV003062155] |
Chr8:19955883 [GRCh38]
Chr8:19813394 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.1320A>G (p.Lys440=) |
single nucleotide variant |
not provided [RCV003090615] |
Chr8:19961081 [GRCh38]
Chr8:19818592 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.935A>G (p.Asn312Ser) |
single nucleotide variant |
not provided [RCV003051743] |
Chr8:19956000 [GRCh38]
Chr8:19813511 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.250-8_250-6del |
microsatellite |
LPL-related disorder [RCV003906456]|not provided [RCV003052721]|not specified [RCV003331422] |
Chr8:19951756..19951758 [GRCh38]
Chr8:19809267..19809269 [GRCh37]
Chr8:8p21.3 |
likely benign|uncertain significance |
| NM_000237.3(LPL):c.1276T>G (p.Phe426Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV004093784] |
Chr8:19961037 [GRCh38]
Chr8:19818548 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.550C>T (p.Pro184Ser) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV003152950] |
Chr8:19954128 [GRCh38]
Chr8:19811639 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.6G>A (p.Glu2=) |
single nucleotide variant |
not provided [RCV002653600] |
Chr8:19939446 [GRCh38]
Chr8:19796957 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1290G>T (p.Lys430Asn) |
single nucleotide variant |
not provided [RCV002654408] |
Chr8:19961051 [GRCh38]
Chr8:19818562 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.250-17del |
deletion |
not provided [RCV003068980] |
Chr8:19951751 [GRCh38]
Chr8:19809262 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NC_000008.10:g.(?_17915043)_(20112692_?)dup |
duplication |
not provided [RCV003154902] |
Chr8:17915043..20112692 [GRCh37]
Chr8:8p22-21.3 |
uncertain significance |
| NM_000237.3(LPL):c.347G>C (p.Arg116Pro) |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV004795684]|not provided [RCV005061444] |
Chr8:19951866 [GRCh38]
Chr8:19809377 [GRCh37]
Chr8:8p21.3 |
likely pathogenic|uncertain significance |
| NM_000237.3(LPL):c.68G>A (p.Gly23Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV003172689] |
Chr8:19939508 [GRCh38]
Chr8:19797019 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.167T>G (p.Leu56Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV003172690] |
Chr8:19948258 [GRCh38]
Chr8:19805769 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1294A>G (p.Arg432Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV003172691] |
Chr8:19961055 [GRCh38]
Chr8:19818566 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1011C>T (p.Pro337=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003172692]|not provided [RCV003730428] |
Chr8:19956076 [GRCh38]
Chr8:19813587 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.743C>T (p.Ala248Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV003172693] |
Chr8:19954321 [GRCh38]
Chr8:19811832 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.254C>T (p.Thr85Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV003172694] |
Chr8:19951773 [GRCh38]
Chr8:19809284 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.899_921dup (p.Asn308delinsGlySerAlaTer) |
duplication |
Cardiovascular phenotype [RCV004278842] |
Chr8:19955957..19955958 [GRCh38]
Chr8:19813468..19813469 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.975C>G (p.Ser325Arg) |
single nucleotide variant |
not provided [RCV003229456] |
Chr8:19956040 [GRCh38]
Chr8:19813551 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1345A>G (p.Lys449Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV004273215] |
Chr8:19962137 [GRCh38]
Chr8:19819648 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.540T>C (p.Thr180=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003176496] |
Chr8:19953420 [GRCh38]
Chr8:19810931 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.424A>T (p.Met142Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV003283621] |
Chr8:19951943 [GRCh38]
Chr8:19809454 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.485C>T (p.Ala162Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV003283622] |
Chr8:19953365 [GRCh38]
Chr8:19810876 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.641G>T (p.Arg214Ile) |
single nucleotide variant |
not provided [RCV003134098] |
Chr8:19954219 [GRCh38]
Chr8:19811730 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1414A>C (p.Lys472Gln) |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV003228690] |
Chr8:19962206 [GRCh38]
Chr8:19819717 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.680T>C (p.Val227Ala) |
single nucleotide variant |
not provided [RCV003147058] |
Chr8:19954258 [GRCh38]
Chr8:19811769 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.43C>A (p.Leu15Ile) |
single nucleotide variant |
not provided [RCV003221612] |
Chr8:19939483 [GRCh38]
Chr8:19796994 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.410G>A (p.Arg137Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV004636724]|not specified [RCV003324320] |
Chr8:19951929 [GRCh38]
Chr8:19809440 [GRCh37]
Chr8:8p21.3 |
likely benign|uncertain significance |
| NM_000237.3(LPL):c.178G>T (p.Val60Leu) |
single nucleotide variant |
not specified [RCV003324323] |
Chr8:19948269 [GRCh38]
Chr8:19805780 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.430-20A>C |
single nucleotide variant |
not specified [RCV003324322] |
Chr8:19953290 [GRCh38]
Chr8:19810801 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1 |
copy number loss |
Neurodevelopmental disorder [RCV003327729] |
Chr8:449893..23854904 [GRCh38]
Chr8:8p23.3-21.2 |
pathogenic |
| GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1 |
copy number loss |
Microcephaly [RCV003327707] |
Chr8:12721809..30183737 [GRCh38]
Chr8:8p23.1-12 |
pathogenic |
| NM_000237.3(LPL):c.662T>A (p.Ile221Asn) |
single nucleotide variant |
not provided [RCV003334303] |
Chr8:19954240 [GRCh38]
Chr8:19811751 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.1387G>C (p.Val463Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV004343669] |
Chr8:19962179 [GRCh38]
Chr8:19819690 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1166A>C (p.Tyr389Ser) |
single nucleotide variant |
not specified [RCV003331906] |
Chr8:19960927 [GRCh38]
Chr8:19818438 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.89-3C>T |
single nucleotide variant |
not specified [RCV003331921] |
Chr8:19948177 [GRCh38]
Chr8:19805688 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1115A>C (p.Glu372Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV003350831] |
Chr8:19959356 [GRCh38]
Chr8:19816867 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1014C>A (p.Tyr338Ter) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV003333683]|not provided [RCV003661045] |
Chr8:19956079 [GRCh38]
Chr8:19813590 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3 |
copy number gain |
not provided [RCV003484722] |
Chr8:11945856..37902453 [GRCh37]
Chr8:8p23.1-11.23 |
pathogenic |
| GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3 |
copy number gain |
not provided [RCV003484725] |
Chr8:14240573..43824035 [GRCh37]
Chr8:8p22-11.1 |
pathogenic |
| NM_000237.3(LPL):c.870G>A (p.Arg290=) |
single nucleotide variant |
not provided [RCV003874436] |
Chr8:19955935 [GRCh38]
Chr8:19813446 [GRCh37]
Chr8:8p21.3 |
likely benign |
| GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1 |
copy number loss |
not provided [RCV003483018] |
Chr8:12490999..28150620 [GRCh37]
Chr8:8p23.1-21.1 |
pathogenic |
| NM_000237.3(LPL):c.1323-9C>T |
single nucleotide variant |
not provided [RCV003712600] |
Chr8:19962106 [GRCh38]
Chr8:19819617 [GRCh37]
Chr8:8p21.3 |
likely benign |
| GRCh37/hg19 8p21.3(chr8:19323985-20513166)x1 |
copy number loss |
not provided [RCV003483021] |
Chr8:19323985..20513166 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3 |
copy number gain |
not provided [RCV003484713] |
Chr8:2201405..41723095 [GRCh37]
Chr8:8p23.2-11.21 |
pathogenic |
| GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3 |
copy number gain |
not provided [RCV003484724] |
Chr8:12560782..38748763 [GRCh37]
Chr8:8p23.1-11.22 |
pathogenic |
| Single allele |
duplication |
not provided [RCV003448693] |
Chr8:12530550..43483193 [GRCh37]
Chr8:8p23.1-11.1 |
pathogenic |
| NM_000237.3(LPL):c.272G>C (p.Trp91Ser) |
single nucleotide variant |
not provided [RCV003443697] |
Chr8:19951791 [GRCh38]
Chr8:19809302 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1094C>T (p.Ser365Phe) |
single nucleotide variant |
not specified [RCV003388394] |
Chr8:19959335 [GRCh38]
Chr8:19816846 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.542-18_542-16del |
deletion |
not provided [RCV003740278] |
Chr8:19954100..19954102 [GRCh38]
Chr8:19811611..19811613 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1427+8T>A |
single nucleotide variant |
not provided [RCV003831487] |
Chr8:19962227 [GRCh38]
Chr8:19819738 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.775+15G>A |
single nucleotide variant |
not provided [RCV003825270] |
Chr8:19954368 [GRCh38]
Chr8:19811879 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.541+18T>C |
single nucleotide variant |
not provided [RCV003880126] |
Chr8:19953439 [GRCh38]
Chr8:19810950 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.821del (p.Leu274fs) |
deletion |
not provided [RCV003576243] |
Chr8:19955886 [GRCh38]
Chr8:19813397 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.1428-12_1428-11insT |
insertion |
not provided [RCV003739159] |
Chr8:19965298..19965299 [GRCh38]
Chr8:19822809..19822810 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.214_224del (p.Ser72fs) |
deletion |
not provided [RCV003578638] |
Chr8:19948303..19948313 [GRCh38]
Chr8:19805814..19805824 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.993G>A (p.Lys331=) |
single nucleotide variant |
not provided [RCV003578061] |
Chr8:19956058 [GRCh38]
Chr8:19813569 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.498C>T (p.Gly166=) |
single nucleotide variant |
not provided [RCV003713008] |
Chr8:19953378 [GRCh38]
Chr8:19810889 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.294C>T (p.Ala98=) |
single nucleotide variant |
not provided [RCV003663179] |
Chr8:19951813 [GRCh38]
Chr8:19809324 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.538del (p.Thr180fs) |
deletion |
not provided [RCV003695525] |
Chr8:19953418 [GRCh38]
Chr8:19810929 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.1019-10T>C |
single nucleotide variant |
not provided [RCV003716312] |
Chr8:19959250 [GRCh38]
Chr8:19816761 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1139+16_1139+30del |
deletion |
not provided [RCV003694485] |
Chr8:19959394..19959408 [GRCh38]
Chr8:19816905..19816919 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.591T>C (p.Arg197=) |
single nucleotide variant |
not provided [RCV003692740] |
Chr8:19954169 [GRCh38]
Chr8:19811680 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1323-16C>T |
single nucleotide variant |
not provided [RCV003576679] |
Chr8:19962099 [GRCh38]
Chr8:19819610 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.768A>C (p.Gly256=) |
single nucleotide variant |
not provided [RCV003572325] |
Chr8:19954346 [GRCh38]
Chr8:19811857 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1019-18G>A |
single nucleotide variant |
not provided [RCV003738787]|not specified [RCV004765974] |
Chr8:19959242 [GRCh38]
Chr8:19816753 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1428-14G>A |
single nucleotide variant |
not provided [RCV003578912] |
Chr8:19965296 [GRCh38]
Chr8:19822807 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.366A>G (p.Pro122=) |
single nucleotide variant |
not provided [RCV003714831] |
Chr8:19951885 [GRCh38]
Chr8:19809396 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.776-19G>A |
single nucleotide variant |
not provided [RCV003694758] |
Chr8:19955822 [GRCh38]
Chr8:19813333 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.939G>C (p.Leu313=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004371516]|not provided [RCV003659884] |
Chr8:19956004 [GRCh38]
Chr8:19813515 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1074C>A (p.Thr358=) |
single nucleotide variant |
not provided [RCV003693669] |
Chr8:19959315 [GRCh38]
Chr8:19816826 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.88+12G>A |
single nucleotide variant |
not provided [RCV003694896] |
Chr8:19939540 [GRCh38]
Chr8:19797051 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.573T>C (p.Tyr191=) |
single nucleotide variant |
not provided [RCV003688186] |
Chr8:19954151 [GRCh38]
Chr8:19811662 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.89-9C>G |
single nucleotide variant |
not provided [RCV003687449] |
Chr8:19948171 [GRCh38]
Chr8:19805682 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1309G>A (p.Glu437Lys) |
single nucleotide variant |
not specified [RCV003489597] |
Chr8:19961070 [GRCh38]
Chr8:19818581 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.776-15C>G |
single nucleotide variant |
not provided [RCV003694172] |
Chr8:19955826 [GRCh38]
Chr8:19813337 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.250-20G>A |
single nucleotide variant |
not provided [RCV003693491] |
Chr8:19951749 [GRCh38]
Chr8:19809260 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.534A>G (p.Arg178=) |
single nucleotide variant |
not provided [RCV003825830] |
Chr8:19953414 [GRCh38]
Chr8:19810925 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.89-15A>T |
single nucleotide variant |
not provided [RCV003876109] |
Chr8:19948165 [GRCh38]
Chr8:19805676 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1140-12T>C |
single nucleotide variant |
not provided [RCV003573889] |
Chr8:19960889 [GRCh38]
Chr8:19818400 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.542-13T>A |
single nucleotide variant |
not provided [RCV003716510] |
Chr8:19954107 [GRCh38]
Chr8:19811618 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1427+14G>A |
single nucleotide variant |
not provided [RCV003828228] |
Chr8:19962233 [GRCh38]
Chr8:19819744 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.250-16G>A |
single nucleotide variant |
not provided [RCV003686408] |
Chr8:19951753 [GRCh38]
Chr8:19809264 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.216C>T (p.Ser72=) |
single nucleotide variant |
not provided [RCV003572395] |
Chr8:19948307 [GRCh38]
Chr8:19805818 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.902T>G (p.Leu301Arg) |
single nucleotide variant |
not provided [RCV003663704] |
Chr8:19955967 [GRCh38]
Chr8:19813478 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1139+14G>C |
single nucleotide variant |
not provided [RCV003579812] |
Chr8:19959394 [GRCh38]
Chr8:19816905 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.711T>C (p.Gly237=) |
single nucleotide variant |
not provided [RCV003548612] |
Chr8:19954289 [GRCh38]
Chr8:19811800 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1428-15T>C |
single nucleotide variant |
not provided [RCV003580261] |
Chr8:19965295 [GRCh38]
Chr8:19822806 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1428-18T>C |
single nucleotide variant |
not provided [RCV003851884] |
Chr8:19965292 [GRCh38]
Chr8:19822803 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.88+14G>C |
single nucleotide variant |
not provided [RCV003668072] |
Chr8:19939542 [GRCh38]
Chr8:19797053 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1139+20G>A |
single nucleotide variant |
not provided [RCV003562050]|not specified [RCV004690431] |
Chr8:19959400 [GRCh38]
Chr8:19816911 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.693C>T (p.Asp231=) |
single nucleotide variant |
not provided [RCV003548818] |
Chr8:19954271 [GRCh38]
Chr8:19811782 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1019-19C>T |
single nucleotide variant |
not provided [RCV003562054] |
Chr8:19959241 [GRCh38]
Chr8:19816752 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.127dup (p.Leu43fs) |
duplication |
not provided [RCV003667633] |
Chr8:19948215..19948216 [GRCh38]
Chr8:19805726..19805727 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.705T>C (p.Asn235=) |
single nucleotide variant |
not provided [RCV003699995] |
Chr8:19954283 [GRCh38]
Chr8:19811794 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1139+15G>A |
single nucleotide variant |
not provided [RCV003725676] |
Chr8:19959395 [GRCh38]
Chr8:19816906 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.541+17G>A |
single nucleotide variant |
not provided [RCV003561913] |
Chr8:19953438 [GRCh38]
Chr8:19810949 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1322+11G>A |
single nucleotide variant |
not provided [RCV003702540] |
Chr8:19961094 [GRCh38]
Chr8:19818605 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1139+12A>T |
single nucleotide variant |
not provided [RCV003836246] |
Chr8:19959392 [GRCh38]
Chr8:19816903 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1014C>G (p.Tyr338Ter) |
single nucleotide variant |
not provided [RCV003837923] |
Chr8:19956079 [GRCh38]
Chr8:19813590 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.1158dup (p.Lys387Ter) |
duplication |
not provided [RCV003667697] |
Chr8:19960918..19960919 [GRCh38]
Chr8:19818429..19818430 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.147del (p.Ala50fs) |
deletion |
not provided [RCV003700200] |
Chr8:19948238 [GRCh38]
Chr8:19805749 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.363C>T (p.Tyr121=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004992902]|not provided [RCV003839536] |
Chr8:19951882 [GRCh38]
Chr8:19809393 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.776-17G>A |
single nucleotide variant |
not provided [RCV003726009] |
Chr8:19955824 [GRCh38]
Chr8:19813335 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1266C>T (p.Ser422=) |
single nucleotide variant |
not provided [RCV003700506] |
Chr8:19961027 [GRCh38]
Chr8:19818538 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.775+20G>A |
single nucleotide variant |
not provided [RCV003717262] |
Chr8:19954373 [GRCh38]
Chr8:19811884 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.135C>A (p.Thr45=) |
single nucleotide variant |
not provided [RCV003702266] |
Chr8:19948226 [GRCh38]
Chr8:19805737 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.88+1del |
deletion |
not provided [RCV003723200] |
Chr8:19939529 [GRCh38]
Chr8:19797040 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.541+16C>T |
single nucleotide variant |
not provided [RCV003716968] |
Chr8:19953437 [GRCh38]
Chr8:19810948 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.810C>A (p.Arg270=) |
single nucleotide variant |
not provided [RCV003580761] |
Chr8:19955875 [GRCh38]
Chr8:19813386 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1161G>A (p.Lys387=) |
single nucleotide variant |
not provided [RCV003700647] |
Chr8:19960922 [GRCh38]
Chr8:19818433 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.429+20A>G |
single nucleotide variant |
not provided [RCV003671059] |
Chr8:19951968 [GRCh38]
Chr8:19809479 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.249+17G>A |
single nucleotide variant |
not provided [RCV003837441] |
Chr8:19948357 [GRCh38]
Chr8:19805868 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.250-2A>C |
single nucleotide variant |
not provided [RCV003723808] |
Chr8:19951767 [GRCh38]
Chr8:19809278 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.18G>T (p.Leu6=) |
single nucleotide variant |
not provided [RCV003678743] |
Chr8:19939458 [GRCh38]
Chr8:19796969 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1428-14G>C |
single nucleotide variant |
not provided [RCV003568705] |
Chr8:19965296 [GRCh38]
Chr8:19822807 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.573T>G (p.Tyr191Ter) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV004546805]|not provided [RCV003683130] |
Chr8:19954151 [GRCh38]
Chr8:19811662 [GRCh37]
Chr8:8p21.3 |
pathogenic|likely pathogenic |
| NM_000237.3(LPL):c.542-18G>T |
single nucleotide variant |
not provided [RCV003550418] |
Chr8:19954102 [GRCh38]
Chr8:19811613 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1139+14G>A |
single nucleotide variant |
not provided [RCV003727559] |
Chr8:19959394 [GRCh38]
Chr8:19816905 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1113C>G (p.Ala371=) |
single nucleotide variant |
not provided [RCV003862529] |
Chr8:19959354 [GRCh38]
Chr8:19816865 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.465C>G (p.Leu155=) |
single nucleotide variant |
not provided [RCV003675765] |
Chr8:19953345 [GRCh38]
Chr8:19810856 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1139+13G>C |
single nucleotide variant |
not provided [RCV003732018] |
Chr8:19959393 [GRCh38]
Chr8:19816904 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1019-13T>C |
single nucleotide variant |
not provided [RCV003842706] |
Chr8:19959247 [GRCh38]
Chr8:19816758 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1019-1G>A |
single nucleotide variant |
not provided [RCV003857844] |
Chr8:19959259 [GRCh38]
Chr8:19816770 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.1427+13G>A |
single nucleotide variant |
not provided [RCV003819311] |
Chr8:19962232 [GRCh38]
Chr8:19819743 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.57C>T (p.Thr19=) |
single nucleotide variant |
not provided [RCV003736078] |
Chr8:19939497 [GRCh38]
Chr8:19797008 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.900G>T (p.Gly300=) |
single nucleotide variant |
not provided [RCV003862285] |
Chr8:19955965 [GRCh38]
Chr8:19813476 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.568G>A (p.Glu190Lys) |
single nucleotide variant |
not provided [RCV003858039] |
Chr8:19954146 [GRCh38]
Chr8:19811657 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.776-8T>C |
single nucleotide variant |
not provided [RCV003683946] |
Chr8:19955833 [GRCh38]
Chr8:19813344 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.710G>A (p.Gly237Asp) |
single nucleotide variant |
not provided [RCV003557376] |
Chr8:19954288 [GRCh38]
Chr8:19811799 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.856A>G (p.Ser286Gly) |
single nucleotide variant |
not provided [RCV003557378] |
Chr8:19955921 [GRCh38]
Chr8:19813432 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.862G>A (p.Ala288Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV004369268]|not provided [RCV003557379] |
Chr8:19955927 [GRCh38]
Chr8:19813438 [GRCh37]
Chr8:8p21.3 |
likely pathogenic|uncertain significance |
| NM_000237.3(LPL):c.249+9G>A |
single nucleotide variant |
not provided [RCV003557307] |
Chr8:19948349 [GRCh38]
Chr8:19805860 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1019-12C>A |
single nucleotide variant |
not provided [RCV003676927] |
Chr8:19959248 [GRCh38]
Chr8:19816759 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.250-7T>C |
single nucleotide variant |
not provided [RCV003685967] |
Chr8:19951762 [GRCh38]
Chr8:19809273 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.429+11G>A |
single nucleotide variant |
not provided [RCV003731111] |
Chr8:19951959 [GRCh38]
Chr8:19809470 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1341G>A (p.Arg447=) |
single nucleotide variant |
not provided [RCV003678630] |
Chr8:19962133 [GRCh38]
Chr8:19819644 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.775+14A>C |
single nucleotide variant |
not provided [RCV003555628] |
Chr8:19954367 [GRCh38]
Chr8:19811878 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.557G>A (p.Gly186Glu) |
single nucleotide variant |
not provided [RCV003557373] |
Chr8:19954135 [GRCh38]
Chr8:19811646 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.569A>G (p.Glu190Gly) |
single nucleotide variant |
not provided [RCV003557375] |
Chr8:19954147 [GRCh38]
Chr8:19811658 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.249+19G>A |
single nucleotide variant |
not provided [RCV003562538] |
Chr8:19948359 [GRCh38]
Chr8:19805870 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1428-12G>C |
single nucleotide variant |
not provided [RCV003563725] |
Chr8:19965298 [GRCh38]
Chr8:19822809 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.333G>A (p.Val111=) |
single nucleotide variant |
not provided [RCV003866208] |
Chr8:19951852 [GRCh38]
Chr8:19809363 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.250-16G>T |
single nucleotide variant |
not provided [RCV003737882] |
Chr8:19951753 [GRCh38]
Chr8:19809264 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.88+2dup |
duplication |
not provided [RCV003557371] |
Chr8:19939529..19939530 [GRCh38]
Chr8:19797040..19797041 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 |
copy number gain |
not specified [RCV003986742] |
Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| NM_000237.3(LPL):c.45C>T (p.Leu15=) |
single nucleotide variant |
not provided [RCV003563930] |
Chr8:19939485 [GRCh38]
Chr8:19796996 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.450G>A (p.Leu150=) |
single nucleotide variant |
not provided [RCV003734002] |
Chr8:19953330 [GRCh38]
Chr8:19810841 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1139+16G>A |
single nucleotide variant |
not provided [RCV003866377] |
Chr8:19959396 [GRCh38]
Chr8:19816907 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1140-16T>C |
single nucleotide variant |
not provided [RCV003675084] |
Chr8:19960885 [GRCh38]
Chr8:19818396 [GRCh37]
Chr8:8p21.3 |
likely benign |
| GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3 |
copy number gain |
not specified [RCV003986756] |
Chr8:158048..41600696 [GRCh37]
Chr8:8p23.3-11.21 |
pathogenic |
| NM_000237.3(LPL):c.987C>T (p.Tyr329=) |
single nucleotide variant |
not provided [RCV003685369] |
Chr8:19956052 [GRCh38]
Chr8:19813563 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1139+14G>T |
single nucleotide variant |
not provided [RCV003734698] |
Chr8:19959394 [GRCh38]
Chr8:19816905 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.447T>G (p.Pro149=) |
single nucleotide variant |
not provided [RCV003551499] |
Chr8:19953327 [GRCh38]
Chr8:19810838 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1323-14A>G |
single nucleotide variant |
not provided [RCV003719116] |
Chr8:19962101 [GRCh38]
Chr8:19819612 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.141A>G (p.Glu47=) |
single nucleotide variant |
not provided [RCV003676986] |
Chr8:19948232 [GRCh38]
Chr8:19805743 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1018+12A>G |
single nucleotide variant |
not provided [RCV003847136] |
Chr8:19956095 [GRCh38]
Chr8:19813606 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1014C>T (p.Tyr338=) |
single nucleotide variant |
not provided [RCV003564956] |
Chr8:19956079 [GRCh38]
Chr8:19813590 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.440_443del (p.Asn147fs) |
deletion |
Cardiovascular phenotype [RCV004369267]|not provided [RCV003557372] |
Chr8:19953318..19953321 [GRCh38]
Chr8:19810829..19810832 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.250-19C>T |
single nucleotide variant |
not provided [RCV003562645] |
Chr8:19951750 [GRCh38]
Chr8:19809261 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.378C>A (p.Gly126=) |
single nucleotide variant |
not provided [RCV003867748] |
Chr8:19951897 [GRCh38]
Chr8:19809408 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.89-17C>T |
single nucleotide variant |
not provided [RCV003870772] |
Chr8:19948163 [GRCh38]
Chr8:19805674 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.828C>A (p.Ile276=) |
single nucleotide variant |
not provided [RCV003844228] |
Chr8:19955893 [GRCh38]
Chr8:19813404 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1187_1188del (p.Glu396fs) |
microsatellite |
not provided [RCV003718664] |
Chr8:19960946..19960947 [GRCh38]
Chr8:19818457..19818458 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.1427+20del |
deletion |
not provided [RCV003845462] |
Chr8:19962239 [GRCh38]
Chr8:19819750 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.594T>A (p.Leu198=) |
single nucleotide variant |
not provided [RCV003711612] |
Chr8:19954172 [GRCh38]
Chr8:19811683 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.89-19del |
deletion |
not provided [RCV003853012] |
Chr8:19948161 [GRCh38]
Chr8:19805672 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.776-7dup |
duplication |
not provided [RCV003863581] |
Chr8:19955828..19955829 [GRCh38]
Chr8:19813339..19813340 [GRCh37]
Chr8:8p21.3 |
benign |
| NM_000237.3(LPL):c.1071T>C (p.His357=) |
single nucleotide variant |
not provided [RCV003681128] |
Chr8:19959312 [GRCh38]
Chr8:19816823 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.305G>C (p.Arg102Thr) |
single nucleotide variant |
not provided [RCV003844247] |
Chr8:19951824 [GRCh38]
Chr8:19809335 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.1139+16_1139+21del |
deletion |
not provided [RCV003676894] |
Chr8:19959394..19959399 [GRCh38]
Chr8:19816905..19816910 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1326G>C (p.Val442=) |
single nucleotide variant |
not provided [RCV003564556] |
Chr8:19962118 [GRCh38]
Chr8:19819629 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.250-14G>A |
single nucleotide variant |
not provided [RCV003728369] |
Chr8:19951755 [GRCh38]
Chr8:19809266 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.429+16G>A |
single nucleotide variant |
not provided [RCV003728466] |
Chr8:19951964 [GRCh38]
Chr8:19809475 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.541+8A>G |
single nucleotide variant |
not provided [RCV003709516] |
Chr8:19953429 [GRCh38]
Chr8:19810940 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.684G>A (p.Gly228=) |
single nucleotide variant |
not provided [RCV003861337] |
Chr8:19954262 [GRCh38]
Chr8:19811773 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1140-14G>A |
single nucleotide variant |
not provided [RCV003848351] |
Chr8:19960887 [GRCh38]
Chr8:19818398 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.429+13G>A |
single nucleotide variant |
not provided [RCV003730082] |
Chr8:19951961 [GRCh38]
Chr8:19809472 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.732C>T (p.Asn244=) |
single nucleotide variant |
not provided [RCV003848381] |
Chr8:19954310 [GRCh38]
Chr8:19811821 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.149C>G (p.Ala50Gly) |
single nucleotide variant |
not provided [RCV004791689]|not specified [RCV004527029] |
Chr8:19948240 [GRCh38]
Chr8:19805751 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1295G>C (p.Arg432Thr) |
single nucleotide variant |
not provided [RCV004546302] |
Chr8:19961056 [GRCh38]
Chr8:19818567 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.142G>T (p.Asp48Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV004522835] |
Chr8:19948233 [GRCh38]
Chr8:19805744 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.790G>A (p.Val264Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV004522837] |
Chr8:19955855 [GRCh38]
Chr8:19813366 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.409C>T (p.Arg137Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV004522836] |
Chr8:19951928 [GRCh38]
Chr8:19809439 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1406C>T (p.Ser469Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV004522834] |
Chr8:19962198 [GRCh38]
Chr8:19819709 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1370A>G (p.Lys457Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV004522833] |
Chr8:19962162 [GRCh38]
Chr8:19819673 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1127_1137del (p.Ile376fs) |
deletion |
Hyperlipidemia, familial combined, LPL related [RCV003992029] |
Chr8:19959368..19959378 [GRCh38]
Chr8:19816879..19816889 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.97G>C (p.Asp33His) |
single nucleotide variant |
Cardiovascular phenotype [RCV004522838] |
Chr8:19948188 [GRCh38]
Chr8:19805699 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.386_389del (p.Lys129fs) |
deletion |
Hyperlipidemia, familial combined, LPL related [RCV003991301] |
Chr8:19951905..19951908 [GRCh38]
Chr8:19809416..19809419 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.679G>C (p.Val227Leu) |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV005051455]|not specified [RCV004586059] |
Chr8:19954257 [GRCh38]
Chr8:19811768 [GRCh37]
Chr8:8p21.3 |
likely pathogenic|uncertain significance |
| NM_000237.3(LPL):c.804C>A (p.His268Gln) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV004586427] |
Chr8:19955869 [GRCh38]
Chr8:19813380 [GRCh37]
Chr8:8p21.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000237.3(LPL):c.874A>G (p.Ser292Gly) |
single nucleotide variant |
not specified [RCV004587929] |
Chr8:19955939 [GRCh38]
Chr8:19813450 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.478C>G (p.Leu160Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV004410610] |
Chr8:19953358 [GRCh38]
Chr8:19810869 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.756T>G (p.Ile252Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV004410611] |
Chr8:19954334 [GRCh38]
Chr8:19811845 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.764G>C (p.Arg255Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV004410612]|Hyperlipidemia, familial combined, LPL related [RCV005040653] |
Chr8:19954342 [GRCh38]
Chr8:19811853 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.814A>C (p.Ile272Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV004410613] |
Chr8:19955879 [GRCh38]
Chr8:19813390 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1256A>T (p.Asp419Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV004637432] |
Chr8:19961017 [GRCh38]
Chr8:19818528 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1274G>A (p.Gly425Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV004637435] |
Chr8:19961035 [GRCh38]
Chr8:19818546 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.397C>G (p.Gln133Glu) |
single nucleotide variant |
not specified [RCV004690775] |
Chr8:19951916 [GRCh38]
Chr8:19809427 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NC_000008.10:g.(?_19362692)_(20112692_?)del |
deletion |
not provided [RCV004583318] |
Chr8:19362692..20112692 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.974G>C (p.Ser325Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV004637431] |
Chr8:19956039 [GRCh38]
Chr8:19813550 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NC_000008.10:g.(?_19805671)_(19805871_?)del |
deletion |
not provided [RCV004583310] |
Chr8:19805671..19805871 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.636C>G (p.Phe212Leu) |
single nucleotide variant |
not specified [RCV004690863] |
Chr8:19954214 [GRCh38]
Chr8:19811725 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.64C>A (p.Arg22Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV004637429] |
Chr8:19939504 [GRCh38]
Chr8:19797015 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.976A>G (p.Ser326Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV004637437] |
Chr8:19956041 [GRCh38]
Chr8:19813552 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.296T>C (p.Leu99Pro) |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV004698370] |
Chr8:19951815 [GRCh38]
Chr8:19809326 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.802C>T (p.His268Tyr) |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV005040701]|Hyperlipoproteinemia, type I [RCV004587947] |
Chr8:19955867 [GRCh38]
Chr8:19813378 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.1264A>G (p.Ser422Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV004637433] |
Chr8:19961025 [GRCh38]
Chr8:19818536 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NC_000008.10:g.(?_19796952)_(19822821_?)del |
deletion |
not provided [RCV004583308] |
Chr8:19796952..19822821 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NC_000008.10:g.(?_17915043)_(20112692_?)del |
deletion |
not provided [RCV004583317] |
Chr8:17915043..20112692 [GRCh37]
Chr8:8p22-21.3 |
pathogenic |
| NC_000008.10:g.(?_19796952)_(19805871_?)del |
deletion |
not provided [RCV004583311] |
Chr8:19796952..19805871 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.250G>T (p.Val84Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV004637430] |
Chr8:19951769 [GRCh38]
Chr8:19809280 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.259A>T (p.Met87Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV004637436] |
Chr8:19951778 [GRCh38]
Chr8:19809289 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.*12T>G |
single nucleotide variant |
not specified [RCV004703055] |
Chr8:19965322 [GRCh38]
Chr8:19822833 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.278C>T (p.Pro93Leu) |
single nucleotide variant |
LPL-related disorder [RCV004731976] |
Chr8:19951797 [GRCh38]
Chr8:19809308 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.274G>A (p.Val92Met) |
single nucleotide variant |
not provided [RCV004723786] |
Chr8:19951793 [GRCh38]
Chr8:19809304 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.249+5G>A |
single nucleotide variant |
not specified [RCV004766768] |
Chr8:19948345 [GRCh38]
Chr8:19805856 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.143A>T (p.Asp48Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV004994471]|not provided [RCV004793106] |
Chr8:19948234 [GRCh38]
Chr8:19805745 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1060A>G (p.Ser354Gly) |
single nucleotide variant |
not provided [RCV004793107] |
Chr8:19959301 [GRCh38]
Chr8:19816812 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.913T>C (p.Cys305Arg) |
single nucleotide variant |
not specified [RCV004766801] |
Chr8:19955978 [GRCh38]
Chr8:19813489 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.941G>T (p.Gly314Val) |
single nucleotide variant |
LPL-related disorder [RCV004756616] |
Chr8:19956006 [GRCh38]
Chr8:19813517 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.827T>C (p.Ile276Thr) |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV004720575] |
Chr8:19955892 [GRCh38]
Chr8:19813403 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.-5_-4del |
deletion |
Cardiovascular phenotype [RCV004993787] |
Chr8:19939434..19939435 [GRCh38]
Chr8:19796945..19796946 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1018G>A (p.Val340Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV004993791] |
Chr8:19956083 [GRCh38]
Chr8:19813594 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.772G>A (p.Gly258Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV004993792] |
Chr8:19954350 [GRCh38]
Chr8:19811861 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1402A>G (p.Lys468Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV004993793] |
Chr8:19962194 [GRCh38]
Chr8:19819705 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.260T>A (p.Met87Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV004993794] |
Chr8:19951779 [GRCh38]
Chr8:19809290 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.83C>A (p.Ala28Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV004993795] |
Chr8:19939523 [GRCh38]
Chr8:19797034 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.135C>T (p.Thr45=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004993796] |
Chr8:19948226 [GRCh38]
Chr8:19805737 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.146C>G (p.Thr49Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV004993797] |
Chr8:19948237 [GRCh38]
Chr8:19805748 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1247G>T (p.Ser416Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV004993799] |
Chr8:19961008 [GRCh38]
Chr8:19818519 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.915T>C (p.Cys305=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004993800] |
Chr8:19955980 [GRCh38]
Chr8:19813491 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1195A>G (p.Ile399Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV004993789] |
Chr8:19960956 [GRCh38]
Chr8:19818467 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.924C>T (p.Asn308=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004993790] |
Chr8:19955989 [GRCh38]
Chr8:19813500 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.83C>T (p.Ala28Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV004993788] |
Chr8:19939523 [GRCh38]
Chr8:19797034 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1043A>G (p.His348Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV004993798] |
Chr8:19959284 [GRCh38]
Chr8:19816795 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.542-1G>A |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV005041089] |
Chr8:19954119 [GRCh38]
Chr8:19811630 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| GRCh37/hg19 8p23.3-21.2(chr8:158049-24812752)x1 |
copy number loss |
not provided [RCV004819357] |
Chr8:158049..24812752 [GRCh37]
Chr8:8p23.3-21.2 |
pathogenic |
| NM_000237.3(LPL):c.1373del (p.Ala458fs) |
deletion |
Hyperlipidemia, familial combined, LPL related [RCV005041090] |
Chr8:19962165 [GRCh38]
Chr8:19819676 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.604G>A (p.Asp202Asn) |
single nucleotide variant |
not specified [RCV005088347] |
Chr8:19954182 [GRCh38]
Chr8:19811693 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.36C>G (p.Ala12=) |
single nucleotide variant |
not provided [RCV005115743] |
Chr8:19939476 [GRCh38]
Chr8:19796987 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.200G>A (p.Cys67Tyr) |
single nucleotide variant |
not provided [RCV005107959] |
Chr8:19948291 [GRCh38]
Chr8:19805802 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.430-4A>G |
single nucleotide variant |
not provided [RCV005108255] |
Chr8:19953306 [GRCh38]
Chr8:19810817 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1019-20T>A |
single nucleotide variant |
not provided [RCV005086029] |
Chr8:19959240 [GRCh38]
Chr8:19816751 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.1048dup (p.Ser350fs) |
duplication |
not provided [RCV005120041] |
Chr8:19959284..19959285 [GRCh38]
Chr8:19816795..19816796 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.615T>C (p.Phe205=) |
single nucleotide variant |
not provided [RCV005108093] |
Chr8:19954193 [GRCh38]
Chr8:19811704 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.663_670dup (p.Gln224fs) |
duplication |
Hyperlipidemia, familial combined, LPL related [RCV005051601] |
Chr8:19954240..19954241 [GRCh38]
Chr8:19811751..19811752 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.1242C>G (p.Tyr414Ter) |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV005051602] |
Chr8:19961003 [GRCh38]
Chr8:19818514 [GRCh37]
Chr8:8p21.3 |
likely pathogenic |
| NM_000237.3(LPL):c.199dup (p.Cys67fs) |
duplication |
not provided [RCV005108201] |
Chr8:19948289..19948290 [GRCh38]
Chr8:19805800..19805801 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.3G>C (p.Met1Ile) |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV005051600] |
Chr8:19939443 [GRCh38]
Chr8:19796954 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.872G>A (p.Cys291Tyr) |
single nucleotide variant |
not specified [RCV005238291] |
Chr8:19955937 [GRCh38]
Chr8:19813448 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.858T>G (p.Ser286Arg) |
single nucleotide variant |
not provided [RCV005172965] |
Chr8:19955923 [GRCh38]
Chr8:19813434 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.512T>C (p.Leu171Pro) |
single nucleotide variant |
not provided [RCV005154886] |
Chr8:19953392 [GRCh38]
Chr8:19810903 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.228C>T (p.Phe76=) |
single nucleotide variant |
not provided [RCV005151829] |
Chr8:19948319 [GRCh38]
Chr8:19805830 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.816T>C (p.Ile272=) |
single nucleotide variant |
not provided [RCV005203681] |
Chr8:19955881 [GRCh38]
Chr8:19813392 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.429+17G>C |
single nucleotide variant |
not provided [RCV005204245] |
Chr8:19951965 [GRCh38]
Chr8:19809476 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.225C>T (p.Thr75=) |
single nucleotide variant |
not provided [RCV005177366] |
Chr8:19948316 [GRCh38]
Chr8:19805827 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.655C>T (p.Arg219Ter) |
single nucleotide variant |
not provided [RCV005200671] |
Chr8:19954233 [GRCh38]
Chr8:19811744 [GRCh37]
Chr8:8p21.3 |
pathogenic |
| NM_000237.3(LPL):c.1018+15G>A |
single nucleotide variant |
not provided [RCV005170863] |
Chr8:19956098 [GRCh38]
Chr8:19813609 [GRCh37]
Chr8:8p21.3 |
likely benign |
| NM_000237.3(LPL):c.734T>C (p.Ile245Thr) |
single nucleotide variant |
not provided [RCV005179388] |
Chr8:19954312 [GRCh38]
Chr8:19811823 [GRCh37]
Chr8:8p21.3 |
uncertain significance |
| NM_000237.3(LPL):c.1350G>A (p.Val450=) |
single nucleotide variant |
not provided [RCV005167419] |
Chr8:19962142 [GRCh38]
Chr8:19819653 [GRCh37]
Chr8:8p21.3 |
likely benign |
