NM_000237.3(LPL):c.*1671T>C |
single nucleotide variant |
High density lipoprotein cholesterol level quantitative trait locus 11 [RCV000033176]|Hyperlipoproteinemia, type I [RCV000353989] |
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 |
nsv513798 |
duplication |
Hyperlipoproteinemia, type I [RCV000001585] |
Chr8:8p22 |
pathogenic |
NM_000237.3(LPL):c.644G>A (p.Gly215Glu) |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV000763181]|Hyperlipidemia, familial combined, LPL related [RCV001248904]|Hyperlipoproteinemia, type I [RCV000001586]|not provided [RCV000521241] |
Chr8:19954222 [GRCh38] Chr8:19811733 [GRCh37] Chr8:8p21.3 |
pathogenic|uncertain significance |
LPL, 6-KB 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] |
Chr8:19951916 [GRCh38] Chr8:19809427 [GRCh37] Chr8:8p21.3 |
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 |
Hyperlipidemia, familial combined, LPL related [RCV001253353]|Hyperlipoproteinemia, type I [RCV000001591] |
Chr8:19954279 [GRCh38] Chr8:19811790 [GRCh37] Chr8:8p21.3 |
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 |
Hyperlipidemia, familial combined, LPL related [RCV001248903]|Hyperlipoproteinemia, type I [RCV000001593] |
Chr8:19954240 [GRCh38] Chr8:19811751 [GRCh37] Chr8:8p21.3 |
pathogenic|uncertain significance |
NM_000237.3(LPL):c.809G>A (p.Arg270His) |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV001248901]|Hyperlipoproteinemia, type I [RCV000001594]|not provided [RCV000497435] |
Chr8:19955874 [GRCh38] Chr8:19813385 [GRCh37] Chr8:8p21.3 |
pathogenic|uncertain significance |
NM_000237.3(LPL):c.300C>A (p.Tyr100Ter) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000001595] |
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 |
Hyperlipoproteinemia, type I [RCV000385586]|LIPOPROTEIN LIPASE POLYMORPHISM [RCV000001598] |
Chr8:19962213 [GRCh38] Chr8:19819724 [GRCh37] Chr8:8p21.3 |
benign|likely benign |
NM_000237.3(LPL):c.249+1G>A |
single nucleotide variant |
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 |
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 |
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 |
Hyperlipoproteinemia, type I [RCV000001604]|not provided [RCV001059212] |
Chr8:19955894 [GRCh38] Chr8:19813405 [GRCh37] Chr8:8p21.3 |
pathogenic |
NM_000237.3(LPL):c.337T>C (p.Trp113Arg) |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV001197456]|Hyperlipoproteinemia, type I [RCV000001605] |
Chr8:19951856 [GRCh38] Chr8:19809367 [GRCh37] Chr8:8p21.3 |
pathogenic |
NM_000237.3(LPL):c.272G>A (p.Trp91Ter) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000001606] |
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 |
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] |
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] |
Chr8:19954199 [GRCh38] Chr8:19811710 [GRCh37] Chr8:8p21.3 |
pathogenic |
NM_000237.3(LPL):c.808C>T (p.Arg270Cys) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000001613]|not provided [RCV001055155] |
Chr8:19955873 [GRCh38] Chr8:19813384 [GRCh37] Chr8:8p21.3 |
pathogenic |
LPL, -39T-C, PROMOTER |
single nucleotide variant |
Hyperlipidemia, familial combined, susceptibility to [RCV000001614] |
Chr8:8p22 |
pathogenic|risk factor |
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV000001615]|Hyperlipidemia, familial combined, susceptibility to [RCV000781944]|Hyperlipoproteinemia, type I [RCV000988041] |
Chr8:19956018 [GRCh38] Chr8:19813529 [GRCh37] Chr8:8p21.3 |
pathogenic|risk factor|uncertain significance |
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 |
Coronary heart disease [RCV000157298]|Hyperlipidemia, familial combined, susceptibility to [RCV000001617]|Hyperlipoproteinemia, type I [RCV000352575]|not provided [RCV000733476]|not specified [RCV000454647] |
Chr8:19948197 [GRCh38] Chr8:19805708 [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 |
Hyperlipoproteinemia, type I [RCV000001619]|not provided [RCV001039273] |
Chr8:19954333 [GRCh38] Chr8:19811844 [GRCh37] Chr8:8p21.3 |
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] |
Chr8:19961928 [GRCh38] Chr8:19819439 [GRCh37] Chr8:8p21.3 |
association |
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.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 |
Hyperlipoproteinemia, type I [RCV000258507] |
Chr8:19960948 [GRCh38] Chr8:19818459 [GRCh37] Chr8:8p21.3 |
likely pathogenic |
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 |
Hyperlipoproteinemia, type I [RCV000267552]|not provided [RCV000589102] |
Chr8:19954256 [GRCh38] Chr8:19811767 [GRCh37] Chr8:8p21.3 |
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 |
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] |
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] |
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 |
Hyperlipoproteinemia, type I [RCV000271225] |
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] |
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] |
Chr8:19939158 [GRCh38] Chr8:19796669 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_000237.3(LPL):c.-281T>G |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000326637] |
Chr8:19939160 [GRCh38] Chr8:19796671 [GRCh37] Chr8:8p21.3 |
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 |
Hyperlipoproteinemia, type I [RCV000328685]|not provided [RCV000586674] |
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] |
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] |
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] |
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 |
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] |
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] |
Chr8:19966163 [GRCh38] Chr8:19823674 [GRCh37] Chr8:8p21.3 |
benign|likely benign |
NM_000237.3(LPL):c.*1742T>C |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000277765] |
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] |
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] |
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 |
Hyperlipoproteinemia, type I [RCV000363410]|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] |
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 |
Hyperlipoproteinemia, type I [RCV000299093] |
Chr8:19951852 [GRCh38] Chr8:19809363 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_000237.3(LPL):c.*827A>T |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV000300463] |
Chr8:19966137 [GRCh38] Chr8:19823648 [GRCh37] Chr8:8p21.3 |
benign |
NM_000237.3(LPL):c.*414_*418del |
deletion |
Hyperlipoproteinemia, type I [RCV000392893] |
Chr8:19965722..19965726 [GRCh38] Chr8:19823233..19823237 [GRCh37] Chr8:8p21.3 |
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_000237.3(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.-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] |
Chr8:19939265..19939266 [GRCh38] Chr8:19796776..19796777 [GRCh37] Chr8:8p21.3 |
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] |
Chr8:19967115..19967116 [GRCh38] Chr8:19824626..19824627 [GRCh37] Chr8:8p21.3 |
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 |
NM_000237.3(LPL):c.89-10del |
deletion |
not provided [RCV000587541] |
Chr8:19948166 [GRCh38] Chr8:19805677 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_000237.3(LPL):c.213C>G (p.His71Gln) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001272627]|not provided [RCV000588713] |
Chr8:19948304 [GRCh38] Chr8:19805815 [GRCh37] Chr8:8p21.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000237.3(LPL):c.1135A>G (p.Thr379Ala) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001164213]|not provided [RCV000588862] |
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 |
NM_000237.3(LPL):c.1136C>T (p.Thr379Ile) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001164214]|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.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.590G>A (p.Arg197His) |
single nucleotide variant |
Hyperlipidemia, familial combined, LPL related [RCV001249092]|Inborn genetic diseases [RCV000623537] |
Chr8:19954168 [GRCh38] Chr8:19811679 [GRCh37] Chr8:8p21.3 |
pathogenic|uncertain significance |
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329) |
copy number gain |
Autistic disorder of childhood onset [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.290C>T (p.Ala97Val) |
single nucleotide variant |
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.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 |
not provided [RCV001060882] |
Chr8:19955900 [GRCh38] Chr8:19813411 [GRCh37] Chr8:8p21.3 |
pathogenic |
NM_000237.3(LPL):c.798C>T (p.Cys266=) |
single nucleotide variant |
not provided [RCV000891894] |
Chr8:19955863 [GRCh38] Chr8:19813374 [GRCh37] Chr8:8p21.3 |
likely benign |
NM_000237.3(LPL):c.1107C>T (p.Thr369=) |
single nucleotide variant |
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 |
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 |
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 |
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 |
Hyperlipoproteinemia, type I [RCV000778928] |
Chr8:19956063 [GRCh38] Chr8:19813574 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_000237.3(LPL):c.1428-6del |
deletion |
not provided [RCV000942705] |
Chr8:19965300 [GRCh38] Chr8:19822811 [GRCh37] Chr8:8p21.3 |
likely benign |
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 |
Hyperlipoproteinemia, type I [RCV001164216]|not provided [RCV000944561] |
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 |
Hyperlipoproteinemia, type I [RCV001159218]|not provided [RCV000943026] |
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 |
not provided [RCV000922527] |
Chr8:19959369 [GRCh38] Chr8:19816880 [GRCh37] Chr8:8p21.3 |
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 |
Hyperlipoproteinemia, type I [RCV001272626]|not provided [RCV000979499] |
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 |
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 |
Hyperlipoproteinemia, type I [RCV001272628]|not provided [RCV000944208] |
Chr8:19951795 [GRCh38] Chr8:19809306 [GRCh37] Chr8:8p21.3 |
benign|uncertain significance |
NM_000237.3(LPL):c.1368A>C (p.Gly456=) |
single nucleotide variant |
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 |
Hyperlipoproteinemia, type I [RCV001159216]|not provided [RCV000932549] |
Chr8:19948203 [GRCh38] Chr8:19805714 [GRCh37] Chr8:8p21.3 |
likely benign|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 |
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 |
Hyperlipoproteinemia, type I [RCV001160570]|not provided [RCV000893020] |
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 |
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.*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 |
Hyperlipoproteinemia, type I [RCV001159215] |
Chr8:19939521 [GRCh38] Chr8:19797032 [GRCh37] Chr8:8p21.3 |
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.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 |
Hyperlipoproteinemia, type I [RCV001160572]|not provided [RCV000894605] |
Chr8:19953336 [GRCh38] Chr8:19810847 [GRCh37] Chr8:8p21.3 |
benign|likely benign |
NM_000237.3(LPL):c.542-8C>T |
single nucleotide variant |
not provided [RCV000931755] |
Chr8:19954112 [GRCh38] Chr8:19811623 [GRCh37] Chr8:8p21.3 |
benign |
NM_000237.3(LPL):c.804C>T (p.His268=) |
single nucleotide variant |
not provided [RCV000928366] |
Chr8:19955869 [GRCh38] Chr8:19813380 [GRCh37] Chr8:8p21.3 |
likely benign |
NM_000237.2:c.-241G>C |
single nucleotide variant |
not provided [RCV000942138] |
Chr8:19939200 [GRCh38] Chr8:19796711 [GRCh37] Chr8:8p21.3 |
likely benign |
NM_000237.3(LPL):c.59C>T (p.Ala20Val) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001272625]|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 |
Hyperlipoproteinemia, type I [RCV001162186]|not provided [RCV000918427] |
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 |
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] |
Chr8:19948225 [GRCh38] Chr8:19805736 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_000237.3(LPL):c.249G>A (p.Thr83=) |
single nucleotide variant |
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 |
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 |
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 |
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 |
not provided [RCV000890967] |
Chr8:19955893 [GRCh38] Chr8:19813404 [GRCh37] Chr8:8p21.3 |
likely 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.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] |
Chr8:19953381 [GRCh38] Chr8:19810892 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_000237.3(LPL):c.1427+15C>A |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001159309] |
Chr8:19962234 [GRCh38] Chr8:19819745 [GRCh37] Chr8:8p21.3 |
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] |
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.648C>T (p.Ser216=) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001162185] |
Chr8:19954226 [GRCh38] Chr8:19811737 [GRCh37] Chr8:8p21.3 |
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.1139+1G>A |
single nucleotide variant |
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 |
Hyperlipoproteinemia, type I [RCV001257912] |
Chr8:19955994 [GRCh38] Chr8:19813505 [GRCh37] Chr8:8p21.3 |
pathogenic |
NM_000237.3(LPL):c.1051G>A (p.Gly351Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV001266700] |
Chr8:19959292 [GRCh38] Chr8:19816803 [GRCh37] Chr8:8p21.3 |
uncertain significance |
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.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.313G>A (p.Asp105Asn) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001279448] |
Chr8:19951832 [GRCh38] Chr8:19809343 [GRCh37] Chr8:8p21.3 |
uncertain significance |
NM_000237.3(LPL):c.1207C>T (p.Leu403Phe) |
single nucleotide variant |
Hyperlipoproteinemia, type I [RCV001279449] |
Chr8:19960968 [GRCh38] Chr8:19818479 [GRCh37] Chr8:8p21.3 |
uncertain significance |
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 |
Hyperlipoproteinemia, type I [RCV001279447] |
Chr8:19939524 [GRCh38] Chr8:19797035 [GRCh37] Chr8:8p21.3 |
uncertain significance |