GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
LPL D9Ninsufficiently evaluated pathogenicunknown

(1330 web hits)

LPL D36Ninsufficiently evaluated not reviewed, f=0.028unknown var-GS18504-1100-36-ASM
var-GS10851-1100-36-ASM
LPL Y61Xinsufficiently evaluated pathogenicunknown

(17 web hits)

LPL W64Xinsufficiently evaluated pathogenicunknown

(3 web hits)

LPL Y73Xinsufficiently evaluated pathogenicunknown

(5 web hits)

LPL R75Sinsufficiently evaluated pathogenicunknown

(14 web hits)

LPL W86Rinsufficiently evaluated pathogenicunknown

(16 web hits)

LPL Q106Xinsufficiently evaluated pathogenicunknown

(1 web hit)

LPL G142Einsufficiently evaluated pathogenicunknown

(11 web hits)

LPL D156Ginsufficiently evaluated pathogenicunknown

(1 web hit)

LPL S172Cinsufficiently evaluated pathogenicunknown

(2 web hits)

LPL A176Tinsufficiently evaluated pathogenicunknown

(8 web hits)

LPL D180Einsufficiently evaluated pathogenicunknown

(1 web hit)

LPL G188Einsufficiently evaluated pathogenicunknown

(180 web hits)

LPL I194Tinsufficiently evaluated pathogenicunknown

(23 web hits)

LPL G195Einsufficiently evaluated pathogenicunknown

(5 web hits)

LPL D204Einsufficiently evaluated pathogenicunknown

(17 web hits)

LPL P207Linsufficiently evaluated pathogenicunknown

(169 web hits)

LPL I225Tinsufficiently evaluated pathogenicunknown

(1 web hit)

LPL C239Winsufficiently evaluated pathogenicunknown

(1 web hit)

LPL R243Cinsufficiently evaluated pathogenicunknown

(13 web hits)

LPL R243Hinsufficiently evaluated pathogenicunknown

(10 web hits)

LPL S244Tinsufficiently evaluated pathogenicunknown

(10 web hits)

LPL D250Ninsufficiently evaluated pathogenicunknown

(131 web hits)

LPL N291Sinsufficiently evaluated pathogenicunknown

(650 web hits)

LPL Y302Xinsufficiently evaluated pathogenicunknown

(5 web hits)

LPL N318Slikely pathogenic, f=0.013dominant

Also called N291S, this variant has been associated with high hypertriglyceridemia. According to data from Wright et al., carriers of this variant may be two to three times more likely to have very high triglyceride levels, although it is unknown what effect this may have on coronary heart disease.

(8 web hits)

hu34D5B9 exome
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
var-GS20509-1100-36-ASM
LPL A334Tinsufficiently evaluated pathogenicunknown

(11 web hits)

LPL L365Vinsufficiently evaluated pathogenicunknown

(1 web hit)

LPL W382Xinsufficiently evaluated pathogenicunknown

(14 web hits)

LPL C418Yinsufficiently evaluated pathogenicunknown

(2 web hits)

LPL A427Tinsufficiently evaluated not reviewed, f=0.010unknown var-GS19025-1100-36-ASM
LPL S447Xinsufficiently evaluated pathogenicunknown

(1280 web hits)

LPL S474Linsufficiently evaluated noneunknown

This variant is reported incorrectly in the GWAS publication below. The correct variant is S474X.

LPL S474Xuncertain protective, f=0.084unknown

This variant actually increases LPL enzyme activity despite creating a termination codon (see Rip J et al). It appears to be a protective variant, associated with lower triglyceride levels—although the effect is quite weak and explains only 0.5-1% of triglyceride variation.

(8 web hits)

hu34D5B9 exome
var-GS19020-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS000006909 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B07 from PGP sample 61499538
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Total results: 35

Gene search

"GENE" or "GENE A123C":

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