LCAT — 342 ClinVar variants
All ClinVar germline LCAT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 152 flagged for review →
19 Pathogenic · 5 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 22 Conflicting · 5 Benign · 3 Benign/Likely benign · 128 Likely benign · 144 Uncertain significance
Full LCAT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 152
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 5
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
LCAT p.Arg123Cys
Likely pathogenic
Multiple submitters
fish eye disease
-
LCAT p.Arg423Cys
Likely pathogenic
Multiple submitters
Cardiovascular phenotype
- LCAT p.Arg268His Pathogenic Single submitter
-
LCAT p.Met404Val
Pathogenic
Single submitter
LCAT deficiency
-
LCAT p.Asn155Asp
Pathogenic
No assertion criteria
fish eye disease
Predictors agree, ClinVar conflicts 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
LCAT p.Ala165Thr
Conflicting
Single submitter
Norum disease
-
LCAT p.Ala194Thr
Conflicting
Single submitter
fish eye disease
-
LCAT p.Ala282Val
Conflicting
Single submitter
Cardiovascular phenotype
-
LCAT p.Leu56Pro
Conflicting
Single submitter
hypoalphalipoproteinemia
-
LCAT p.Pro3Leu
Conflicting
Single submitter
Cardiovascular phenotype
-
LCAT p.Pro437Leu
Conflicting
Single submitter
Norum disease
-
LCAT p.Thr12Met
Conflicting
Single submitter
fish eye disease
Predictors lean, ClinVar uncertain 99
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
LCAT p.Ala432Thr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LCAT p.Arg300His
Uncertain significance
Multiple submitters
Norum disease
-
LCAT p.Arg347Cys
Uncertain significance
Multiple submitters
fish eye disease
-
LCAT p.Arg76His
Uncertain significance
Multiple submitters
fish eye disease
-
LCAT p.Asp352Asn
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LCAT p.Glu161Lys
Uncertain significance
Multiple submitters
Norum disease
-
LCAT p.Gly196Arg
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LCAT p.Gly327Val
Uncertain significance
Multiple submitters
fish eye disease
-
LCAT p.Gly398Arg
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LCAT p.Gly5Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LCAT p.Leu309Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LCAT p.Lys262Arg
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LCAT p.Pro278Ser
Uncertain significance
Multiple submitters
fish eye disease
-
LCAT p.Pro360Thr
Uncertain significance
Multiple submitters
fish eye disease
-
LCAT p.Thr358Met
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LCAT p.Thr36Ile
Uncertain significance
Multiple submitters
Norum disease
-
LCAT p.Val341Met
Uncertain significance
Multiple submitters
fish eye disease
-
LCAT p.Val49Ile
Uncertain significance
Multiple submitters
fish eye disease
-
LCAT p.Ala185Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Ala193Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Ala221Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Ala326Ser
Uncertain significance
Single submitter
Norum disease
-
LCAT p.Ala40Pro
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Ala40Ser
Uncertain significance
Single submitter
Norum disease
- LCAT p.Ala432Gly Uncertain significance Single submitter
-
LCAT p.Arg123Pro
Uncertain significance
Single submitter
Norum disease
-
LCAT p.Arg225His
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Arg280Cys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Arg280His
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Arg304Pro
Uncertain significance
Single submitter
Norum disease
-
LCAT p.Arg322His
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Arg347Gly
Uncertain significance
Single submitter
Cardiovascular phenotype
- LCAT p.Arg47Gln Uncertain significance Single submitter
-
LCAT p.Arg47Trp
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Asn116Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Asn408Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Asp169Asn
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Asp286Asn
Uncertain significance
Single submitter
Norum disease
-
LCAT p.Asp286Glu
Uncertain significance
Single submitter
Norum disease
-
LCAT p.Asp68Gly
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Asp87Tyr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Cys208Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Gln121His
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Gln389His
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Gln9Pro
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Glu134Gly
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Glu178Asp
Uncertain significance
Single submitter
LCAT deficiency
- LCAT p.Glu266Lys Uncertain significance Single submitter
-
LCAT p.Glu412Gly
Uncertain significance
Single submitter
Norum disease
-
LCAT p.Glu412Lys
Uncertain significance
Single submitter
Norum disease
-
LCAT p.Glu41Gly
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Gly207Ser
Uncertain significance
Single submitter
Norum disease
- LCAT p.Gly239Ser Uncertain significance Single submitter
-
LCAT p.Gly354Ser
Uncertain significance
Single submitter
Norum disease
-
LCAT p.Gly362Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Gly398Glu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Gly425Val
Uncertain significance
Single submitter
Cardiovascular phenotype
- LCAT p.Gly57Arg Uncertain significance Single submitter
-
LCAT p.His45Asp
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Ile122Met
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Ile122Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Ile227Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Ile269Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Ile350Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Leu145Pro
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Leu18Met
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Leu245Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Leu245Met
Uncertain significance
Single submitter
Cardiovascular phenotype
- LCAT p.Leu343Met Uncertain significance Single submitter
- LCAT p.Leu409Pro Uncertain significance Single submitter
- LCAT p.Leu56Val Uncertain significance Single submitter
-
LCAT p.Leu88His
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Lys129Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Lys39Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Lys39Met
Uncertain significance
Single submitter
Norum disease
-
LCAT p.Met90Leu
Uncertain significance
Single submitter
Norum disease
-
LCAT p.Phe289Cys
Uncertain significance
Single submitter
Norum disease
-
LCAT p.Pro219Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Pro24Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Pro331Leu
Uncertain significance
Single submitter
Norum disease
-
LCAT p.Pro388Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Pro438Leu
Uncertain significance
Single submitter
Norum disease
-
LCAT p.Pro48Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Pro4Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Pro67Ala
Uncertain significance
Single submitter
Cardiovascular phenotype
- LCAT p.Ser232Ala Uncertain significance Single submitter
-
LCAT p.Ser240Phe
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Ser260Gly
Uncertain significance
Single submitter
Cardiovascular phenotype
- LCAT p.Thr348Ile Uncertain significance Single submitter
-
LCAT p.Thr358Arg
Uncertain significance
Single submitter
Norum disease
-
LCAT p.Thr46Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Thr78Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Trp315Arg
Uncertain significance
Single submitter
Norum disease
-
LCAT p.Trp85Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
- LCAT p.Tyr297Cys Uncertain significance Single submitter
-
LCAT p.Val114Leu
Uncertain significance
Single submitter
Norum disease
-
LCAT p.Val120Ala
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Val124Ile
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Val70Glu
Uncertain significance
Single submitter
Norum disease
Predictors split 41
The independent predictors disagree with each other — read with care.
-
LCAT p.Gly128Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LCAT p.Phe289Leu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LCAT p.Pro34Leu
Pathogenic
Multiple submitters
fish eye disease
-
LCAT p.Thr147Ile
Pathogenic
Multiple submitters
Norum disease
-
LCAT p.Tyr195Cys
Uncertain significance
Multiple submitters
Norum disease
-
LCAT p.Val114Met
Benign/Likely benign
Multiple submitters
Cardiovascular phenotype
-
LCAT p.Val158Met
Uncertain significance
Multiple submitters
fish eye disease
- LCAT p.Arg109Trp Uncertain significance Single submitter
- LCAT p.Arg123His Conflicting Single submitter
-
LCAT p.Arg182Cys
Uncertain significance
Single submitter
fish eye disease
-
LCAT p.Arg217Cys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Arg225Cys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Arg268Cys
Likely pathogenic
Single submitter
Norum disease
-
LCAT p.Arg300Cys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Arg304Cys
Uncertain significance
Single submitter
Norum disease
- LCAT p.Asp101Asn Uncertain significance Single submitter
-
LCAT p.Asp137Asn
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Asp301Asn
Uncertain significance
Single submitter
Norum disease
-
LCAT p.Gln220Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Glu312Gly
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Gly203Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Gly340Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Gly342Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
- LCAT p.Ile202Thr Uncertain significance Single submitter
-
LCAT p.Ile261Phe
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Leu27His
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Lys262Glu
Uncertain significance
Single submitter
Norum disease
-
LCAT p.Met258Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
- LCAT p.Phe32Leu Uncertain significance Single submitter
-
LCAT p.Pro24His
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Pro256Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Pro390Ser
Uncertain significance
Single submitter
Norum disease
-
LCAT p.Thr371Met
Uncertain significance
Single submitter
fish eye disease
-
LCAT p.Thr37Met
Conflicting
Single submitter
fish eye disease
- LCAT p.Val246Ala Uncertain significance Single submitter
-
LCAT p.Val288Ala
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Val288Met
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LCAT p.Val363Glu
Uncertain significance
Single submitter
Cardiovascular phenotype
- LCAT p.Val52Met Uncertain significance Single submitter
-
LCAT p.Asn252Lys
Pathogenic
No assertion criteria
LCAT deficiency
-
LCAT p.Met317Ile
Pathogenic
No assertion criteria
LCAT deficiency
All LCAT variants
Pathogenic 19
- p.His35fs Multiple submitters Cardiovascular phenotype
- p.Pro34Leu Multiple submitters fish eye disease ⚠
- p.Thr147Ile Multiple submitters Norum disease ⚠
- p.Arg171Trp Single submitter Norum disease
- p.Arg268His Single submitter ⚠
- p.Met404Val Single submitter LCAT deficiency ⚠
- p.Trp283Ter Single submitter
- p.Trp8Ter Single submitter
- p.Val333Met Single submitter LCAT deficiency
- c.524-22T>C No assertion criteria fish eye disease
- p.Arg164_Ala165insGly No assertion criteria LCAT deficiency
- p.Asn155Asp No assertion criteria fish eye disease ⚠
- p.Asn252Lys No assertion criteria LCAT deficiency ⚠
- p.Gln400fs No assertion criteria LCAT deficiency
- p.Leu233Pro No assertion criteria LCAT deficiency
- p.Leu325del No assertion criteria fish eye disease
- p.Met276Lys No assertion criteria LCAT deficiency
- p.Met317Ile No assertion criteria LCAT deficiency ⚠
- p.Trp170Arg No assertion criteria LCAT deficiency
Pathogenic/Likely pathogenic 5
- p.Ala166Thr Multiple submitters fish eye disease
- p.Arg164His Multiple submitters
- p.Arg280fs Multiple submitters fish eye disease
- p.Thr345Met Multiple submitters fish eye disease
- p.Tyr107Ter Multiple submitters fish eye disease
Likely pathogenic 16
- p.Arg123Cys Multiple submitters fish eye disease ⚠
- p.Arg423Cys Multiple submitters Cardiovascular phenotype ⚠
- p.Gly54Ser Multiple submitters LCAT-related disorder
- p.Lys39Ter Multiple submitters LCAT-related disorder
- c.142_154+1dup Single submitter Norum disease
- c.428-2A>T Single submitter Norum disease
- p.Arg159Trp Single submitter LCAT deficiency
- p.Arg268Cys Single submitter Norum disease ⚠
- p.Gln267Ter Single submitter Norum disease
- p.Gln387Ter Single submitter
- p.Glu265fs Single submitter Norum disease
- p.Gly238fs Single submitter
- p.Met317fs Single submitter Cardiovascular phenotype
- p.Trp85Ter Single submitter Norum disease
- p.Val163fs Single submitter Norum disease
- p.Val288fs Single submitter LCAT-related disorder
Conflicting classifications of pathogenicity 22
- c.748+13C>G Single submitter LCAT deficiency
- p.Ala165= Single submitter Cardiovascular phenotype
- p.Ala165Thr Single submitter Norum disease ⚠
- p.Ala194Thr Single submitter fish eye disease ⚠
- p.Ala282Val Single submitter Cardiovascular phenotype ⚠
- p.Arg123His Single submitter ⚠
- p.Asn155= Single submitter Cardiovascular phenotype
- p.Gly327= Single submitter LCAT deficiency
- p.Gly340= Single submitter fish eye disease
- p.His287= Single submitter Cardiovascular phenotype
- p.Leu184= Single submitter Cardiovascular phenotype
- p.Leu206= Single submitter Cardiovascular phenotype
- p.Leu56Pro Single submitter hypoalphalipoproteinemia ⚠
- p.Pro293= Single submitter Cardiovascular phenotype
- p.Pro3Leu Single submitter Cardiovascular phenotype ⚠
- p.Pro437Leu Single submitter Norum disease ⚠
- p.Pro53= Single submitter Cardiovascular phenotype
- p.Thr12Met Single submitter fish eye disease ⚠
- p.Thr371= Single submitter Cardiovascular phenotype
- p.Thr37Met Single submitter fish eye disease ⚠
- p.Val199= Single submitter Cardiovascular phenotype
- p.Val391= Single submitter Cardiovascular phenotype
Benign 5
- c.154+155T>G Multiple submitters
- c.428-23C>A Multiple submitters
- p.Leu393= Multiple submitters Cardiovascular phenotype
- c.312-10del Single submitter
- c.428-10C>T Single submitter
Benign/Likely benign 3
- p.Glu378Lys Multiple submitters Cardiovascular phenotype
- p.Ser232Thr Multiple submitters Cardiovascular phenotype
- p.Val114Met Multiple submitters Cardiovascular phenotype ⚠
Likely benign 128
- p.Ala330= Multiple submitters Cardiovascular phenotype
- p.Arg123= Multiple submitters Cardiovascular phenotype
- p.Arg164= Multiple submitters Cardiovascular phenotype
- p.Asp160= Multiple submitters Cardiovascular phenotype
- p.Asp301= Multiple submitters Cardiovascular phenotype
- p.Gly207= Multiple submitters Cardiovascular phenotype
- p.Gly354= Multiple submitters Cardiovascular phenotype
- p.His210= Multiple submitters Cardiovascular phenotype
- p.His397= Multiple submitters Cardiovascular phenotype
- p.Ile231= Multiple submitters Cardiovascular phenotype
- p.Leu136= Multiple submitters Cardiovascular phenotype
- p.Leu209= Multiple submitters Cardiovascular phenotype
- p.Lys262= Multiple submitters Cardiovascular phenotype
- p.Pro24= Multiple submitters Cardiovascular phenotype
- p.Pro34= Multiple submitters Cardiovascular phenotype
- p.Pro395= Multiple submitters Cardiovascular phenotype
- p.Pro430= Multiple submitters Cardiovascular phenotype
- p.Pro48= Multiple submitters Cardiovascular phenotype
- p.Pro7= Multiple submitters Cardiovascular phenotype
- p.Ser110= Multiple submitters Cardiovascular phenotype
- p.Ser6= Multiple submitters Cardiovascular phenotype
- p.Thr12= Multiple submitters Cardiovascular phenotype
- p.Thr345= Multiple submitters Cardiovascular phenotype
- p.Thr348= Multiple submitters Cardiovascular phenotype
- p.Tyr157= Multiple submitters Cardiovascular phenotype
- p.Tyr195= Multiple submitters Cardiovascular phenotype
- p.Tyr339= Multiple submitters Cardiovascular phenotype
- p.Tyr351= Multiple submitters Cardiovascular phenotype
- c.154+15G>A Single submitter
- c.154+17C>T Single submitter
- c.154+19C>G Single submitter
- c.311+14C>G Single submitter
- c.312-10C>T Single submitter
- c.312-15A>C Single submitter
- c.312-4G>A Single submitter
- c.312-5C>T Single submitter
- c.427+17A>G Single submitter
- c.428-10C>A Single submitter
- c.428-11T>C Single submitter
- c.428-5C>A Single submitter
- c.523+14C>T Single submitter
- c.523+15G>A Single submitter
- c.523+17A>G Single submitter
- c.523+9C>G Single submitter
- c.524-14dup Single submitter
- c.524-16C>T Single submitter
- c.524-7G>T Single submitter
- c.748+18A>G Single submitter
- c.749-6C>A Single submitter
- c.749-7T>C Single submitter
- p.Ala166= Single submitter Cardiovascular phenotype
- p.Ala185= Single submitter Cardiovascular phenotype
- p.Ala193= Single submitter
- p.Ala22= Single submitter Cardiovascular phenotype
- p.Ala235= Single submitter Cardiovascular phenotype
- p.Ala23Thr Single submitter Cardiovascular phenotype
- p.Ala373= Single submitter Cardiovascular phenotype
- p.Ala40= Single submitter Cardiovascular phenotype
- p.Ala428= Single submitter Cardiovascular phenotype
- p.Arg159= Single submitter
- p.Arg182His Single submitter Cardiovascular phenotype
- p.Arg225= Single submitter Cardiovascular phenotype
- p.Arg280= Single submitter Cardiovascular phenotype
- p.Arg347His Single submitter Cardiovascular phenotype
- p.Arg375= Single submitter Cardiovascular phenotype
- p.Asn116= Single submitter Cardiovascular phenotype
- p.Asn58= Single submitter
- p.Asn71= Single submitter Cardiovascular phenotype
- p.Asp359= Single submitter Cardiovascular phenotype
- p.Glu179= Single submitter
- p.Glu265= Single submitter
- p.Glu366= Single submitter Cardiovascular phenotype
- p.Glu79= Single submitter
- p.Gly112= Single submitter Cardiovascular phenotype
- p.Gly126= Single submitter Cardiovascular phenotype
- p.Gly128= Single submitter Cardiovascular phenotype
- p.Gly234= Single submitter Cardiovascular phenotype
- p.Gly239= Single submitter Cardiovascular phenotype
- p.Gly362Asp Single submitter Cardiovascular phenotype
- p.His204= Single submitter Cardiovascular phenotype
- p.His353= Single submitter Cardiovascular phenotype
- p.His397Arg Single submitter Cardiovascular phenotype
- p.Ile227= Single submitter Cardiovascular phenotype
- p.Ile290= Single submitter Cardiovascular phenotype
- p.Ile417= Single submitter Cardiovascular phenotype
- p.Leu113= Single submitter Cardiovascular phenotype
- p.Leu148= Single submitter Cardiovascular phenotype
- p.Leu19= Single submitter Cardiovascular phenotype
- p.Leu216= Single submitter Cardiovascular phenotype
- p.Leu247= Single submitter Cardiovascular phenotype
- p.Leu31= Single submitter Cardiovascular phenotype
- p.Leu324= Single submitter Cardiovascular phenotype
- p.Leu343= Single submitter Cardiovascular phenotype
- p.Leu379= Single submitter Cardiovascular phenotype
- p.Leu382Arg Single submitter Cardiovascular phenotype
- p.Leu394= Single submitter Cardiovascular phenotype
- p.Leu396= Single submitter Cardiovascular phenotype
- p.Leu51= Single submitter Cardiovascular phenotype
- p.Leu60= Single submitter
- p.Lys197= Single submitter Cardiovascular phenotype
- p.Lys223= Single submitter Cardiovascular phenotype
- p.Lys264= Single submitter Cardiovascular phenotype
- p.Phe25= Single submitter Cardiovascular phenotype
- p.Phe306= Single submitter Cardiovascular phenotype
- p.Phe91= Single submitter
- p.Pro174= Single submitter Cardiovascular phenotype
- p.Pro198= Single submitter Cardiovascular phenotype
- p.Pro243= Single submitter
- p.Pro284= Single submitter Cardiovascular phenotype
- p.Pro3= Single submitter Cardiovascular phenotype
- p.Pro356= Single submitter Cardiovascular phenotype
- p.Pro38= Single submitter Cardiovascular phenotype
- p.Pro4= Single submitter Cardiovascular phenotype
- p.Pro437= Single submitter Cardiovascular phenotype
- p.Ser138= Single submitter Cardiovascular phenotype
- p.Ser240= Single submitter
- p.Ser273= Single submitter Cardiovascular phenotype
- p.Ser433= Single submitter
- p.Thr271= Single submitter Cardiovascular phenotype
- p.Thr358= Single submitter Cardiovascular phenotype
- p.Thr37= Single submitter Cardiovascular phenotype
- p.Thr377= Single submitter Cardiovascular phenotype
- p.Thr431Ala Single submitter Cardiovascular phenotype
- p.Tyr75= Single submitter Cardiovascular phenotype
- p.Val105= Single submitter
- p.Val124= Single submitter
- p.Val149= Single submitter Cardiovascular phenotype
- p.Val69= Single submitter Cardiovascular phenotype
Uncertain significance 144
- p.Ala432Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Arg300His Multiple submitters Norum disease ⚠
- p.Arg347Cys Multiple submitters fish eye disease ⚠
- p.Arg76His Multiple submitters fish eye disease ⚠
- p.Asp352Asn Multiple submitters Cardiovascular phenotype ⚠
- p.Glu161Lys Multiple submitters Norum disease ⚠
- p.Gly128Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Gly196Arg Multiple submitters Cardiovascular phenotype ⚠
- p.Gly327Val Multiple submitters fish eye disease ⚠
- p.Gly398Arg Multiple submitters Cardiovascular phenotype ⚠
- p.Gly5Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Leu309Val Multiple submitters Cardiovascular phenotype ⚠
- p.Lys262Arg Multiple submitters Cardiovascular phenotype ⚠
- p.Phe289Leu Multiple submitters Cardiovascular phenotype ⚠
- p.Pro278Ser Multiple submitters fish eye disease ⚠
- p.Pro360Thr Multiple submitters fish eye disease ⚠
- p.Thr358Met Multiple submitters Cardiovascular phenotype ⚠
- p.Thr36Ile Multiple submitters Norum disease ⚠
- p.Tyr195Cys Multiple submitters Norum disease ⚠
- p.Val158Met Multiple submitters fish eye disease ⚠
- p.Val341Met Multiple submitters fish eye disease ⚠
- p.Val49Ile Multiple submitters fish eye disease ⚠
- c.154+5G>A Single submitter Norum disease
- c.312-5C>G Single submitter Norum disease
- c.428-4A>G Single submitter LCAT deficiency
- p.Ala185Thr Single submitter Cardiovascular phenotype ⚠
- p.Ala193Thr Single submitter Cardiovascular phenotype ⚠
- p.Ala221Thr Single submitter Cardiovascular phenotype ⚠
- p.Ala326Ser Single submitter Norum disease ⚠
- p.Ala373Val Single submitter LCAT deficiency
- p.Ala40Pro Single submitter Cardiovascular phenotype ⚠
- p.Ala40Ser Single submitter Norum disease ⚠
- p.Ala428fs Single submitter Norum disease
- p.Ala432Gly Single submitter ⚠
- p.Arg109Trp Single submitter ⚠
- p.Arg123Pro Single submitter Norum disease ⚠
- p.Arg182Cys Single submitter fish eye disease ⚠
- p.Arg217Cys Single submitter Cardiovascular phenotype ⚠
- p.Arg225Cys Single submitter Cardiovascular phenotype ⚠
- p.Arg225His Single submitter Cardiovascular phenotype ⚠
- p.Arg280Cys Single submitter Cardiovascular phenotype ⚠
- p.Arg280His Single submitter Cardiovascular phenotype ⚠
- p.Arg300Cys Single submitter Cardiovascular phenotype ⚠
- p.Arg304Cys Single submitter Norum disease ⚠
- p.Arg304Pro Single submitter Norum disease ⚠
- p.Arg322His Single submitter Cardiovascular phenotype ⚠
- p.Arg347Gly Single submitter Cardiovascular phenotype ⚠
- p.Arg47Gln Single submitter ⚠
- p.Arg47Trp Single submitter Cardiovascular phenotype ⚠
- p.Arg76Leu Single submitter Cardiovascular phenotype
- p.Asn116Ser Single submitter Cardiovascular phenotype ⚠
- p.Asn408Ser Single submitter Cardiovascular phenotype ⚠
- p.Asp101Asn Single submitter ⚠
- p.Asp137Asn Single submitter Cardiovascular phenotype ⚠
- p.Asp169Asn Single submitter Cardiovascular phenotype ⚠
- p.Asp286Asn Single submitter Norum disease ⚠
- p.Asp286Glu Single submitter Norum disease ⚠
- p.Asp301Asn Single submitter Norum disease ⚠
- p.Asp301Glu Single submitter Norum disease
- p.Asp68Gly Single submitter Cardiovascular phenotype ⚠
- p.Asp87Tyr Single submitter Cardiovascular phenotype ⚠
- p.Cys208Ser Single submitter Cardiovascular phenotype ⚠
- p.Gln121His Single submitter Cardiovascular phenotype ⚠
- p.Gln220Arg Single submitter Cardiovascular phenotype ⚠
- p.Gln389His Single submitter Cardiovascular phenotype ⚠
- p.Gln9Pro Single submitter Cardiovascular phenotype ⚠
- p.Glu134Gly Single submitter Cardiovascular phenotype ⚠
- p.Glu178Asp Single submitter LCAT deficiency ⚠
- p.Glu266Lys Single submitter ⚠
- p.Glu312Gly Single submitter Cardiovascular phenotype ⚠
- p.Glu412Gly Single submitter Norum disease ⚠
- p.Glu412Lys Single submitter Norum disease ⚠
- p.Glu41Gly Single submitter Cardiovascular phenotype ⚠
- p.Gly203Ser Single submitter Cardiovascular phenotype ⚠
- p.Gly207Ser Single submitter Norum disease ⚠
- p.Gly239Ser Single submitter ⚠
- p.Gly340Ser Single submitter Cardiovascular phenotype ⚠
- p.Gly342Arg Single submitter Cardiovascular phenotype ⚠
- p.Gly354Ser Single submitter Norum disease ⚠
- p.Gly362Ser Single submitter Cardiovascular phenotype ⚠
- p.Gly398Glu Single submitter Cardiovascular phenotype ⚠
- p.Gly425Val Single submitter Cardiovascular phenotype ⚠
- p.Gly57Arg Single submitter ⚠
- p.His287Gln Single submitter Norum disease
- p.His45Asp Single submitter Cardiovascular phenotype ⚠
- p.Ile122Met Single submitter Cardiovascular phenotype ⚠
- p.Ile122Val Single submitter Cardiovascular phenotype ⚠
- p.Ile202Thr Single submitter ⚠
- p.Ile227Thr Single submitter Cardiovascular phenotype ⚠
- p.Ile261Phe Single submitter Cardiovascular phenotype ⚠
- p.Ile269Arg Single submitter Cardiovascular phenotype ⚠
- p.Ile290dup Single submitter
- p.Ile350Val Single submitter Cardiovascular phenotype ⚠
- p.Leu145Pro Single submitter Cardiovascular phenotype ⚠
- p.Leu18Met Single submitter Cardiovascular phenotype ⚠
- p.Leu245Arg Single submitter Cardiovascular phenotype ⚠
- p.Leu245Met Single submitter Cardiovascular phenotype ⚠
- p.Leu27His Single submitter Cardiovascular phenotype ⚠
- p.Leu343Arg Single submitter
- p.Leu343Met Single submitter ⚠
- p.Leu409Pro Single submitter ⚠
- p.Leu56Val Single submitter ⚠
- p.Leu88His Single submitter Cardiovascular phenotype ⚠
- p.Lys129Arg Single submitter Cardiovascular phenotype ⚠
- p.Lys262Glu Single submitter Norum disease ⚠
- p.Lys39Arg Single submitter Cardiovascular phenotype ⚠
- p.Lys39Met Single submitter Norum disease ⚠
- p.Met258Thr Single submitter Cardiovascular phenotype ⚠
- p.Met90Leu Single submitter Norum disease ⚠
- p.Phe289Cys Single submitter Norum disease ⚠
- p.Phe32Leu Single submitter ⚠
- p.Pro219Ser Single submitter Cardiovascular phenotype ⚠
- p.Pro24His Single submitter Cardiovascular phenotype ⚠
- p.Pro24Thr Single submitter Cardiovascular phenotype ⚠
- p.Pro256Leu Single submitter Cardiovascular phenotype ⚠
- p.Pro331Leu Single submitter Norum disease ⚠
- p.Pro388Leu Single submitter Cardiovascular phenotype ⚠
- p.Pro390Ser Single submitter Norum disease ⚠
- p.Pro438Leu Single submitter Norum disease ⚠
- p.Pro48Leu Single submitter Cardiovascular phenotype ⚠
- p.Pro4Ser Single submitter Cardiovascular phenotype ⚠
- p.Pro67Ala Single submitter Cardiovascular phenotype ⚠
- p.Ser232Ala Single submitter ⚠
- p.Ser240Phe Single submitter Cardiovascular phenotype ⚠
- p.Ser260Gly Single submitter Cardiovascular phenotype ⚠
- p.Thr348Ile Single submitter ⚠
- p.Thr358Arg Single submitter Norum disease ⚠
- p.Thr371Met Single submitter fish eye disease ⚠
- p.Thr46Ser Single submitter Cardiovascular phenotype ⚠
- p.Thr78Arg Single submitter Cardiovascular phenotype ⚠
- p.Trp315Arg Single submitter Norum disease ⚠
- p.Trp85Arg Single submitter Cardiovascular phenotype ⚠
- p.Tyr297Cys Single submitter ⚠
- p.Tyr339_Pro344delinsSer Single submitter
- p.Val114Leu Single submitter Norum disease ⚠
- p.Val120Ala Single submitter Cardiovascular phenotype ⚠
- p.Val124Ile Single submitter Cardiovascular phenotype ⚠
- p.Val246Ala Single submitter ⚠
- p.Val288Ala Single submitter Cardiovascular phenotype ⚠
- p.Val288Met Single submitter Cardiovascular phenotype ⚠
- p.Val361= Single submitter LCAT deficiency
- p.Val363Glu Single submitter Cardiovascular phenotype ⚠
- p.Val52Met Single submitter ⚠
- p.Val70Glu Single submitter Norum disease ⚠