LOX — 666 ClinVar variants
All ClinVar germline LOX variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 351 flagged for review →
28 Pathogenic · 13 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 37 Conflicting · 11 Benign · 10 Benign/Likely benign · 192 Likely benign · 360 Uncertain significance
Full LOX gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 351
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 agree, ClinVar conflicts 28
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
LOX p.Ala101Val
Conflicting
Single submitter
aortic aneurysm, familial thoracic 10
-
LOX p.Ala25Thr
Conflicting
Single submitter
Cardiovascular phenotype
-
LOX p.Ala79Thr
Conflicting
Single submitter
Cardiovascular phenotype
-
LOX p.Arg105Leu
Conflicting
Single submitter
Cardiovascular phenotype
-
LOX p.Arg88His
Conflicting
Single submitter
Cardiovascular phenotype
-
LOX p.Asn156Tyr
Conflicting
Single submitter
Cardiovascular phenotype
- LOX p.Asn310Ser Conflicting Single submitter
-
LOX p.Gln145Arg
Conflicting
Single submitter
Cardiovascular phenotype
-
LOX p.Gln45Arg
Conflicting
Single submitter
Cardiovascular phenotype
-
LOX p.Gln45His
Conflicting
Single submitter
Cardiovascular phenotype
-
LOX p.Gly11Arg
Conflicting
Single submitter
aortic aneurysm, familial thoracic 10
-
LOX p.Gly165Arg
Conflicting
Single submitter
aortic aneurysm, familial thoracic 10
-
LOX p.Gly78Ala
Conflicting
Single submitter
Cardiovascular phenotype
-
LOX p.Leu154Phe
Conflicting
Single submitter
Cardiovascular phenotype
-
LOX p.Pro119Thr
Conflicting
Single submitter
aortic aneurysm, familial thoracic 10
-
LOX p.Pro152Ala
Conflicting
Single submitter
Cardiovascular phenotype
-
LOX p.Pro32Gln
Conflicting
Single submitter
Cardiovascular phenotype
-
LOX p.Pro35Gln
Conflicting
Single submitter
Cardiovascular phenotype
-
LOX p.Pro87Leu
Conflicting
Single submitter
Cardiovascular phenotype
-
LOX p.Ser130Pro
Conflicting
Single submitter
familial thoracic aortic aneurysm and aortic dissection
-
LOX p.Ser155Gly
Conflicting
Single submitter
Cardiovascular phenotype
-
LOX p.Ser178Pro
Conflicting
Single submitter
Cardiovascular phenotype
-
LOX p.Ser348Arg
Conflicting
Single submitter
Cardiovascular phenotype
-
LOX p.Thr104Lys
Conflicting
Single submitter
Cardiovascular phenotype
-
LOX p.Thr106Pro
Conflicting
Single submitter
Cardiovascular phenotype
-
LOX p.Tyr408His
Conflicting
Single submitter
connective tissue disorder
-
LOX p.Val112Leu
Conflicting
Single submitter
Cardiovascular phenotype
-
LOX p.Val254Ile
Conflicting
Single submitter
Increased number of skin folds
Predicted LoF vs a conflicting call 2
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
-
LOX p.Cys244fs
Conflicting
Single submitter
Cardiovascular phenotype
-
LOX p.Gln44fs
Conflicting
Single submitter
Cardiovascular phenotype
Predictors lean, ClinVar uncertain 260
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 260
-
LOX p.Ala100Pro
Uncertain significance
Multiple submitters
aortic aneurysm, familial thoracic 10
-
LOX p.Ala100Thr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
- LOX p.Ala102Thr Uncertain significance Multiple submitters
-
LOX p.Ala107Thr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Ala147Thr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
- LOX p.Ala224Pro Uncertain significance Multiple submitters
- LOX p.Ala246Pro Uncertain significance Multiple submitters
-
LOX p.Arg162Cys
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Arg281Pro
Uncertain significance
Multiple submitters
Cardiovascular phenotype
- LOX p.Arg2Ser Uncertain significance Multiple submitters
-
LOX p.Arg397Cys
Uncertain significance
Multiple submitters
aortic aneurysm, familial thoracic 10
-
LOX p.Arg68Pro
Uncertain significance
Multiple submitters
aortic aneurysm, familial thoracic 10
- LOX p.Arg70Trp Uncertain significance Multiple submitters
-
LOX p.Arg88Ser
Uncertain significance
Multiple submitters
aortic aneurysm, familial thoracic 10
-
LOX p.Arg95Gly
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Arg98Ser
Uncertain significance
Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
-
LOX p.Asn144Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Asn173His
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Asn51Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LOX p.Asn81Asp Uncertain significance Multiple submitters
-
LOX p.Asp164Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Asp214Asn
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Asp308Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Asp360Glu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Asp368Asn
Uncertain significance
Multiple submitters
aortic aneurysm, familial thoracic 10
-
LOX p.Asp390Ala
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Asp71Glu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Asp71His
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Cys340Arg
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Glu300Gly
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Glu34Gln
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Gly128Asp
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Gly128Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Gly165Asp
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Gly27Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Gly411Ala
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Gly411Asp
Uncertain significance
Multiple submitters
aortic aneurysm, familial thoracic 10
-
LOX p.Gly52Arg
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Gly52Trp
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.His259Gln
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Ile364Thr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
- LOX p.Ile366Thr Uncertain significance Multiple submitters
-
LOX p.Leu18Ile
Uncertain significance
Multiple submitters
Cardiovascular phenotype
- LOX p.Leu263Pro Uncertain significance Multiple submitters
-
LOX p.Leu92Pro
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Lys270Arg
Uncertain significance
Multiple submitters
Cardiovascular phenotype
- LOX p.Lys320Thr Uncertain significance Multiple submitters
-
LOX p.Pro195Leu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Pro282Ala
Uncertain significance
Multiple submitters
Cardiovascular phenotype
- LOX p.Pro31Ser Uncertain significance Multiple submitters
- LOX p.Pro35Leu Uncertain significance Multiple submitters
- LOX p.Pro416Leu Uncertain significance Multiple submitters
-
LOX p.Pro72Arg
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Pro87Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
- LOX p.Pro90Arg Uncertain significance Multiple submitters
-
LOX p.Ser155Ile
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Ser275Thr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Thr106Met
Uncertain significance
Multiple submitters
Cardiovascular phenotype
- LOX p.Thr113Ile Uncertain significance Multiple submitters
-
LOX p.Thr120Ile
Uncertain significance
Multiple submitters
Cardiovascular phenotype
- LOX p.Thr189Ala Uncertain significance Multiple submitters
-
LOX p.Thr189Ile
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Thr205Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Thr311Ser
Uncertain significance
Multiple submitters
Cardiovascular phenotype
- LOX p.Thr344Ser Uncertain significance Multiple submitters
-
LOX p.Thr99Ala
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Tyr203His
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Tyr384Phe
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Val216Glu
Uncertain significance
Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
-
LOX p.Val54Met
Uncertain significance
Multiple submitters
Cardiovascular phenotype
- LOX p.Ala100Ser Uncertain significance Single submitter
- LOX p.Ala100Val Uncertain significance Single submitter
- LOX p.Ala107Val Uncertain significance Single submitter
-
LOX p.Ala114Asp
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LOX p.Ala114Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LOX p.Ala121Pro
Uncertain significance
Single submitter
Cardiovascular phenotype
- LOX p.Ala134Asp Uncertain significance Single submitter
-
LOX p.Ala134Pro
Uncertain significance
Single submitter
Cardiovascular phenotype
- LOX p.Ala139Thr Uncertain significance Single submitter
-
LOX p.Ala142Gly
Uncertain significance
Single submitter
Cardiovascular phenotype
- LOX p.Ala142Val Uncertain significance Single submitter
-
LOX p.Ala147Glu
Uncertain significance
Single submitter
Cardiovascular phenotype
- LOX p.Ala147Gly Uncertain significance Single submitter
-
LOX p.Ala17Glu
Uncertain significance
Single submitter
Cardiovascular phenotype
- LOX p.Ala17Gly Uncertain significance Single submitter
- LOX p.Ala224Thr Uncertain significance Single submitter
-
LOX p.Ala22Asp
Uncertain significance
Single submitter
Cardiovascular phenotype
- LOX p.Ala22Gly Uncertain significance Single submitter
- LOX p.Ala22Thr Uncertain significance Single submitter
-
LOX p.Ala239Pro
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LOX p.Ala246Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LOX p.Ala249Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
- LOX p.Ala249Val Uncertain significance Single submitter
- LOX p.Ala342Thr Uncertain significance Single submitter
- LOX p.Ala38Ser Uncertain significance Single submitter
- LOX p.Ala409Thr Uncertain significance Single submitter
-
LOX p.Ala4Val
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LOX p.Ala82Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
- LOX p.Ala84Ser Uncertain significance Single submitter
-
LOX p.Arg105Gln
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LOX p.Arg122Gly
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LOX p.Arg133Lys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LOX p.Arg133Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
- LOX p.Arg158Leu Uncertain significance Single submitter
- LOX p.Arg162His Uncertain significance Single submitter
-
LOX p.Arg162Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LOX p.Arg200Gln
Uncertain significance
Single submitter
Cardiovascular phenotype
- LOX p.Arg260Gly Uncertain significance Single submitter
- LOX p.Arg268Thr Uncertain significance Single submitter
- LOX p.Arg2Cys Uncertain significance Single submitter
-
LOX p.Arg314Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
- LOX p.Arg336Lys Uncertain significance Single submitter
- LOX p.Arg336Trp Uncertain significance Single submitter
- LOX p.Arg401Cys Uncertain significance Single submitter
- LOX p.Arg401Gly Uncertain significance Single submitter
- LOX p.Arg401His Uncertain significance Single submitter
-
LOX p.Arg43His
Uncertain significance
Single submitter
Cardiovascular phenotype
- LOX p.Arg43Leu Uncertain significance Single submitter
- LOX p.Arg68Leu Uncertain significance Single submitter
-
LOX p.Arg69Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LOX p.Arg70Gln
Uncertain significance
Single submitter
Cardiovascular phenotype
- LOX p.Asn243Asp Uncertain significance Single submitter
-
LOX p.Asn381Lys
Uncertain significance
Single submitter
Cardiovascular phenotype
- LOX p.Asn381Tyr Uncertain significance Single submitter
- LOX p.Asn394Ser Uncertain significance Single submitter
- LOX p.Asp214His Uncertain significance Single submitter
- LOX p.Asp256His Uncertain significance Single submitter
- LOX p.Asp258Gly Uncertain significance Single submitter
- LOX p.Asp276His Uncertain significance Single submitter
-
LOX p.Asp305Asn
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LOX p.Asp305Gly
Uncertain significance
Single submitter
Cardiovascular phenotype
- LOX p.Asp327Glu Uncertain significance Single submitter
- LOX p.Asp353Val Uncertain significance Single submitter
- LOX p.Asp358His Uncertain significance Single submitter
- LOX p.Asp360Asn Uncertain significance Single submitter
- LOX p.Cys16Ser Uncertain significance Single submitter
- LOX p.Cys21Tyr Uncertain significance Single submitter
- LOX p.Cys238Arg Uncertain significance Single submitter
- LOX p.Cys238Tyr Uncertain significance Single submitter
- LOX p.Cys351Arg Uncertain significance Single submitter
- LOX p.Cys412Ser Uncertain significance Single submitter
-
LOX p.Gln145His
Uncertain significance
Single submitter
Cardiovascular phenotype
- LOX p.Gln223Leu Uncertain significance Single submitter
- LOX p.Gln267Arg Uncertain significance Single submitter
-
LOX p.Gln28Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LOX p.Gln29Leu
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LOX p.Gln345Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
- LOX p.Gln44Arg Uncertain significance Single submitter
-
LOX p.Gln44His
Uncertain significance
Single submitter
aortic aneurysm, familial thoracic 10
-
LOX p.Gln63His
Uncertain significance
Single submitter
Cardiovascular phenotype
Predictors split 61
The independent predictors disagree with each other — read with care.
-
LOX p.Arg122Cys
Uncertain significance
Multiple submitters
aortic aneurysm, familial thoracic 10
-
LOX p.Arg281Gln
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Arg314Thr
Uncertain significance
Multiple submitters
Cardiovascular phenotype
- LOX p.Arg98Cys Uncertain significance Multiple submitters
-
LOX p.Gln223Arg
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Gly411Val
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Gly61Arg
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Ile375Leu
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Ile46Asn
Uncertain significance
Multiple submitters
aortic aneurysm, familial thoracic 10
- LOX p.Phe55Leu Uncertain significance Multiple submitters
-
LOX p.Pro174His
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Pro182Arg
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Pro371Ala
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Ser247Arg
Uncertain significance
Multiple submitters
Cardiovascular phenotype
-
LOX p.Ser329Tyr
Uncertain significance
Multiple submitters
aortic aneurysm, familial thoracic 10
-
LOX p.Ser83Phe
Uncertain significance
Multiple submitters
Cardiovascular phenotype
- LOX p.Trp42Cys Uncertain significance Multiple submitters
- LOX p.Tyr175Cys Uncertain significance Multiple submitters
-
LOX p.Tyr257His
Uncertain significance
Multiple submitters
Cardiovascular phenotype
- LOX p.Ala407Gly Uncertain significance Single submitter
-
LOX p.Ala407Thr
Uncertain significance
Single submitter
Cardiovascular phenotype
- LOX p.Ala407Val Uncertain significance Single submitter
-
LOX p.Arg135Cys
Uncertain significance
Single submitter
Cardiovascular phenotype
- LOX p.Arg314Ile Uncertain significance Single submitter
-
LOX p.Arg397His
Conflicting
Single submitter
aortic aneurysm, familial thoracic 10
-
LOX p.Arg43Ser
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LOX p.Arg95Cys
Uncertain significance
Single submitter
Cardiovascular phenotype
- LOX p.Asn243Lys Uncertain significance Single submitter
-
LOX p.Asn373Lys
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LOX p.Asn50Ile
Uncertain significance
Single submitter
Cardiovascular phenotype
- LOX p.Asn50Lys Uncertain significance Single submitter
- LOX p.Asp305Glu Uncertain significance Single submitter
- LOX p.Gly197Cys Uncertain significance Single submitter
- LOX p.Gly202Arg Uncertain significance Single submitter
-
LOX p.Gly356Asp
Uncertain significance
Single submitter
Cardiovascular phenotype
- LOX p.Gly61Asp Uncertain significance Single submitter
-
LOX p.His335Asp
Uncertain significance
Single submitter
Cardiovascular phenotype
-
LOX p.Leu212Ile
Uncertain significance
Single submitter
Cardiovascular phenotype
- LOX p.Leu8His Uncertain significance Single submitter
- LOX p.Leu9Pro Uncertain significance Single submitter
- LOX p.Met166Thr Uncertain significance Single submitter
- LOX p.Met233Ile Uncertain significance Single submitter
- LOX p.Phe125Leu Uncertain significance Single submitter
- LOX p.Pro182Ser Uncertain significance Single submitter
- LOX p.Pro201Ala Uncertain significance Single submitter
- LOX p.Ser178Cys Uncertain significance Single submitter
-
LOX p.Ser280Arg
Conflicting
Single submitter
Cardiovascular phenotype
-
LOX p.Ser290Arg
Uncertain significance
Single submitter
Cardiovascular phenotype
- LOX p.Ser379Gly Uncertain significance Single submitter
- LOX p.Ser410Pro Uncertain significance Single submitter
- LOX p.Ser56Arg Uncertain significance Single submitter
-
LOX p.Thr248Ile
Uncertain significance
Single submitter
aortic aneurysm, familial thoracic 1
-
LOX p.Thr392Ile
Uncertain significance
Single submitter
Cardiovascular phenotype
- LOX p.Trp48Arg Uncertain significance Single submitter
- LOX p.Tyr172Asp Uncertain significance Single submitter
- LOX p.Tyr172Cys Uncertain significance Single submitter
-
LOX p.Tyr334His
Uncertain significance
Single submitter
Cardiovascular phenotype
- LOX p.Val228Met Uncertain significance Single submitter
-
LOX p.Val378Leu
Conflicting
Single submitter
aortic aneurysm, familial thoracic 10
- LOX p.Val386Ile Uncertain significance Single submitter
-
LOX p.Ser280Ile
Pathogenic
No assertion criteria
aortic aneurysm, familial thoracic 10
All LOX variants
Pathogenic 28
- p.Arg281fs Multiple submitters Cardiovascular phenotype
- p.Leu13fs Multiple submitters Cardiovascular phenotype
- p.Trp124Ter Multiple submitters Familial aortopathy
- p.Val76fs Multiple submitters Cardiovascular phenotype
- c.1035+1G>C Single submitter
- p.Arg255fs Single submitter
- p.Arg88fs Single submitter
- p.Asn381fs Single submitter aortic aneurysm, familial thoracic 10
- p.Cys21Ter Single submitter
- p.Cys238fs Single submitter aortic aneurysm, familial thoracic 10
- p.Gln14Ter Single submitter
- p.Gln223fs Single submitter
- p.Gln29_Gln30delinsHisTer Single submitter
- p.Gln30Ter Single submitter
- p.Gln53Ter Single submitter
- p.Gln67fs Single submitter
- p.Gln67Ter Single submitter
- p.Glu242Ter Single submitter
- p.Gly149Ter Single submitter aortic aneurysm, familial thoracic 10
- p.Leu154fs Single submitter
- p.Leu18fs Single submitter aortic aneurysm, familial thoracic 10
- p.Lys370fs Single submitter aortic aneurysm, familial thoracic 10
- p.Tyr183Ter Single submitter Cardiovascular phenotype
- p.Tyr186Ter Single submitter Cardiovascular phenotype
- p.Tyr257fs Single submitter
- p.Tyr352Ter Single submitter
- p.Gln267Pro No assertion criteria aortic aneurysm, familial thoracic 10
- p.Ser280Ile No assertion criteria aortic aneurysm, familial thoracic 10 ⚠
Pathogenic/Likely pathogenic 13
- c.1035+1G>A Multiple submitters aortic aneurysm, familial thoracic 10
- c.1131+1_1131+6del Multiple submitters
- c.740+1G>T Multiple submitters
- p.Arg118fs Multiple submitters aortic aneurysm, familial thoracic 10
- p.Arg281Ter Multiple submitters Cardiovascular phenotype
- p.Arg337Ter Multiple submitters aortic aneurysm, familial thoracic 10
- p.Gln209fs Multiple submitters Cardiovascular phenotype
- p.Gly202Ter Multiple submitters Cardiovascular phenotype
- p.Met298Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection
- p.Pro182fs Multiple submitters
- p.Ser130Ter Multiple submitters aortic aneurysm, familial thoracic 10
- p.Trp42Ter Multiple submitters LOX-related disorder
- p.Tyr227Ter Multiple submitters aortic aneurysm, familial thoracic 10
Likely pathogenic 15
- c.740+2T>A Single submitter
- c.741-2A>C Single submitter
- c.741-2A>G Single submitter
- c.878+1G>A Single submitter
- p.Ala101fs Single submitter Cardiovascular phenotype
- p.Ala321fs Single submitter
- p.Cys361Tyr Single submitter
- p.Gln345fs Single submitter aortic aneurysm, familial thoracic 10
- p.Gln47Ter Single submitter Cardiovascular phenotype
- p.Ser247fs Single submitter LOX-related disorder
- p.Ser348Asn Single submitter
- p.Thr341Pro Single submitter cutis laxa
- p.Trp48Ter Single submitter aortic aneurysm, familial thoracic 10
- p.Tyr172Ter Single submitter Thoracic aortic aneurysm or dissection
- c.741-2A>T No assertion criteria LOX-related disorder
Conflicting classifications of pathogenicity 37
- c.1035+4T>C Single submitter Cardiovascular phenotype
- c.632-10T>C Single submitter
- p.Ala101Val Single submitter aortic aneurysm, familial thoracic 10 ⚠
- p.Ala25Thr Single submitter Cardiovascular phenotype ⚠
- p.Ala79Thr Single submitter Cardiovascular phenotype ⚠
- p.Arg105Leu Single submitter Cardiovascular phenotype ⚠
- p.Arg397His Single submitter aortic aneurysm, familial thoracic 10 ⚠
- p.Arg88His Single submitter Cardiovascular phenotype ⚠
- p.Asn156Tyr Single submitter Cardiovascular phenotype ⚠
- p.Asn310Ser Single submitter ⚠
- p.Cys244fs Single submitter Cardiovascular phenotype ⚠
- p.Gln145Arg Single submitter Cardiovascular phenotype ⚠
- p.Gln345= Single submitter aortic aneurysm, familial thoracic 10
- p.Gln44fs Single submitter Cardiovascular phenotype ⚠
- p.Gln45Arg Single submitter Cardiovascular phenotype ⚠
- p.Gln45His Single submitter Cardiovascular phenotype ⚠
- p.Gly11Arg Single submitter aortic aneurysm, familial thoracic 10 ⚠
- p.Gly165Arg Single submitter aortic aneurysm, familial thoracic 10 ⚠
- p.Gly78Ala Single submitter Cardiovascular phenotype ⚠
- p.Leu154Phe Single submitter Cardiovascular phenotype ⚠
- p.Met233Val Single submitter Cardiovascular phenotype
- p.Pro119Thr Single submitter aortic aneurysm, familial thoracic 10 ⚠
- p.Pro152Ala Single submitter Cardiovascular phenotype ⚠
- p.Pro32Gln Single submitter Cardiovascular phenotype ⚠
- p.Pro35Gln Single submitter Cardiovascular phenotype ⚠
- p.Pro87Leu Single submitter Cardiovascular phenotype ⚠
- p.Ser130Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
- p.Ser155Gly Single submitter Cardiovascular phenotype ⚠
- p.Ser178Pro Single submitter Cardiovascular phenotype ⚠
- p.Ser280Arg Single submitter Cardiovascular phenotype ⚠
- p.Ser348Arg Single submitter Cardiovascular phenotype ⚠
- p.Thr104Lys Single submitter Cardiovascular phenotype ⚠
- p.Thr106Pro Single submitter Cardiovascular phenotype ⚠
- p.Tyr408His Single submitter connective tissue disorder ⚠
- p.Val112Leu Single submitter Cardiovascular phenotype ⚠
- p.Val254Ile Single submitter Increased number of skin folds ⚠
- p.Val378Leu Single submitter aortic aneurysm, familial thoracic 10 ⚠
Benign 11
- p.Arg158Gln Multiple submitters Cardiovascular phenotype
- c.1035+225T>C Single submitter
- c.1131+110dup Single submitter
- c.1247+92C>T Single submitter
- c.1248-153G>A Single submitter
- c.1248-20_1248-11del Single submitter
- c.631+160G>C Single submitter
- c.740+14T>A Single submitter
- c.740+175del Single submitter
- c.741-12dup Single submitter
- c.*154A>G Single submitter
Benign/Likely benign 10
- c.631+10C>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
- c.740+6G>A Multiple submitters aortic aneurysm, familial thoracic 10
- p.Arg103Pro Multiple submitters Cardiovascular phenotype
- p.Arg68= Multiple submitters aortic aneurysm, familial thoracic 10
- p.Glu49= Multiple submitters Cardiovascular phenotype
- p.Leu10= Multiple submitters aortic aneurysm, familial thoracic 10
- p.Pro159Gln Multiple submitters aortic aneurysm, familial thoracic 10
- p.Pro72= Multiple submitters Cardiovascular phenotype
- p.Ser132Phe Multiple submitters aortic aneurysm, familial thoracic 10
- p.Ser178= Multiple submitters aortic aneurysm, familial thoracic 10
Likely benign 192
- c.1036-11_1036-8del Multiple submitters
- c.741-23T>C Multiple submitters
- c.878+17C>G Multiple submitters aortic aneurysm, familial thoracic 10
- p.Ala139= Multiple submitters Cardiovascular phenotype
- p.Ala147= Multiple submitters Cardiovascular phenotype
- p.Ala22= Multiple submitters Cardiovascular phenotype
- p.Ala37= Multiple submitters Cardiovascular phenotype
- p.Ala38= Multiple submitters aortic aneurysm, familial thoracic 10
- p.Ala407= Multiple submitters Cardiovascular phenotype
- p.Ala409= Multiple submitters Cardiovascular phenotype
- p.Ala84= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
- p.Arg135= Multiple submitters Cardiovascular phenotype
- p.Arg158= Multiple submitters Cardiovascular phenotype
- p.Arg200= Multiple submitters Cardiovascular phenotype
- p.Arg268= Multiple submitters Cardiovascular phenotype
- p.Arg70= Multiple submitters Cardiovascular phenotype
- p.Asn173= Multiple submitters Cardiovascular phenotype
- p.Asn393= Multiple submitters Cardiovascular phenotype
- p.Asp214= Multiple submitters
- p.Asp218= Multiple submitters Cardiovascular phenotype
- p.Asp256= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
- p.Asp305= Multiple submitters Cardiovascular phenotype
- p.Asp358= Multiple submitters Cardiovascular phenotype
- p.Asp360= Multiple submitters Cardiovascular phenotype
- p.Cys238= Multiple submitters Cardiovascular phenotype
- p.Gln312= Multiple submitters Cardiovascular phenotype
- p.Gln86= Multiple submitters Cardiovascular phenotype
- p.Gly108Ser Multiple submitters aortic aneurysm, familial thoracic 10
- p.Gly206= Multiple submitters Cardiovascular phenotype
- p.Gly27= Multiple submitters Cardiovascular phenotype
- p.Gly273= Multiple submitters Cardiovascular phenotype
- p.Gly333= Multiple submitters Cardiovascular phenotype
- p.Gly372= Multiple submitters Cardiovascular phenotype
- p.Gly411= Multiple submitters Cardiovascular phenotype
- p.Gly73= Multiple submitters Cardiovascular phenotype
- p.Gly73Asp Multiple submitters Cardiovascular phenotype
- p.Ile46= Multiple submitters Cardiovascular phenotype
- p.Leu157= Multiple submitters Cardiovascular phenotype
- p.Leu215= Multiple submitters Cardiovascular phenotype
- p.Leu236= Multiple submitters Cardiovascular phenotype
- p.Leu262= Multiple submitters Cardiovascular phenotype
- p.Leu385= Multiple submitters Cardiovascular phenotype
- p.Leu58= Multiple submitters Cardiovascular phenotype
- p.Leu93= Multiple submitters Cardiovascular phenotype
- p.Pro32Leu Multiple submitters Cardiovascular phenotype
- p.Pro349= Multiple submitters Cardiovascular phenotype
- p.Pro36= Multiple submitters Cardiovascular phenotype
- p.Ser130= Multiple submitters Cardiovascular phenotype
- p.Ser232= Multiple submitters Cardiovascular phenotype
- p.Ser275= Multiple submitters Cardiovascular phenotype
- p.Ser280= Multiple submitters Cardiovascular phenotype
- p.Ser285= Multiple submitters Cardiovascular phenotype
- p.Ser83= Multiple submitters Cardiovascular phenotype
- p.Thr113= Multiple submitters Cardiovascular phenotype
- p.Thr226= Multiple submitters Cardiovascular phenotype
- p.Thr274= Multiple submitters Cardiovascular phenotype
- p.Thr354= Multiple submitters Cardiovascular phenotype
- p.Thr6= Multiple submitters Cardiovascular phenotype
- p.Tyr203= Multiple submitters Cardiovascular phenotype
- p.Tyr355= Multiple submitters Cardiovascular phenotype
- p.Val269= Multiple submitters aortic aneurysm, familial thoracic 10
- p.Val380= Multiple submitters Cardiovascular phenotype
- c.1035+9G>T Single submitter
- c.1036-11G>A Single submitter
- c.1131+14A>G Single submitter
- c.1131+19A>G Single submitter
- c.1131+7A>C Single submitter
- c.1131+7A>G Single submitter
- c.1131+7A>T Single submitter
- c.1132-15C>G Single submitter
- c.1132-16T>C Single submitter
- c.1132-18A>G Single submitter
- c.1132-19A>T Single submitter
- c.1132-20G>T Single submitter
- c.1132-5C>T Single submitter
- c.1248-15G>A Single submitter
- c.1248-327C>A Single submitter
- c.1248-7A>C Single submitter
- c.631+16T>G Single submitter
- c.631+19G>T Single submitter
- c.631+8C>A Single submitter
- c.631+9C>T Single submitter
- c.632-16G>A Single submitter
- c.632-16G>C Single submitter
- c.740+11A>C Single submitter
- c.740+11A>G Single submitter
- c.740+14T>G Single submitter
- c.740+16T>A Single submitter
- c.740+16T>G Single submitter
- c.740+19G>C Single submitter
- c.740+4C>T Single submitter
- c.740+7G>A Single submitter
- c.878+10T>C Single submitter
- c.878+11G>A Single submitter
- c.878+14C>T Single submitter
- c.879-15T>G Single submitter
- c.879-16T>G Single submitter
- c.879-19T>C Single submitter
- c.879-4T>C Single submitter
- c.879-6C>A Single submitter
- p.Ala100= Single submitter
- p.Ala114= Single submitter Cardiovascular phenotype
- p.Ala137= Single submitter
- p.Ala142= Single submitter Cardiovascular phenotype
- p.Ala17= Single submitter Cardiovascular phenotype
- p.Ala224= Single submitter
- p.Ala224= Single submitter
- p.Ala246= Single submitter
- p.Ala74= Single submitter
- p.Ala74Thr Single submitter Cardiovascular phenotype
- p.Ala75= Single submitter
- p.Ala79= Single submitter
- p.Ala82= Single submitter
- p.Arg103= Single submitter Cardiovascular phenotype
- p.Arg105= Single submitter Cardiovascular phenotype
- p.Arg122His Single submitter
- p.Arg283= Single submitter Cardiovascular phenotype
- p.Arg95= Single submitter
- p.Asn394= Single submitter Cardiovascular phenotype
- p.Asn81= Single submitter
- p.Asp164= Single submitter Cardiovascular phenotype
- p.Asp188= Single submitter Cardiovascular phenotype
- p.Asp299= Single submitter
- p.Asp308Glu Single submitter
- p.Asp71= Single submitter
- p.Cys291= Single submitter
- p.Cys324= Single submitter Cardiovascular phenotype
- p.Cys412= Single submitter Cardiovascular phenotype
- p.Gln145= Single submitter
- p.Gln209= Single submitter
- p.Gln29= Single submitter Cardiovascular phenotype
- p.Gln362= Single submitter
- p.Gln45= Single submitter Cardiovascular phenotype
- p.Gln47= Single submitter Cardiovascular phenotype
- p.Gln53Lys Single submitter Cardiovascular phenotype
- p.Gln65= Single submitter
- p.Gln85= Single submitter Cardiovascular phenotype
- p.Glu143= Single submitter
- p.Glu241= Single submitter Cardiovascular phenotype
- p.Gly138= Single submitter Cardiovascular phenotype
- p.Gly168= Single submitter
- p.Gly197= Single submitter
- p.Gly27Ala Single submitter Cardiovascular phenotype
- p.Gly40= Single submitter Cardiovascular phenotype
- p.Gly404= Single submitter
- p.Gly52= Single submitter
- p.Gly78= Single submitter
- p.His405= Single submitter Cardiovascular phenotype
- p.Ile375= Single submitter Cardiovascular phenotype
- p.Ile414= Single submitter
- p.Ile91= Single submitter Cardiovascular phenotype
- p.Leu18= Single submitter
- p.Leu245= Single submitter Cardiovascular phenotype
- p.Leu278= Single submitter Cardiovascular phenotype
- p.Leu306= Single submitter
- p.Lys176= Single submitter Cardiovascular phenotype
- p.Phe338= Single submitter
- p.Pro119= Single submitter Cardiovascular phenotype
- p.Pro148= Single submitter Cardiovascular phenotype
- p.Pro159= Single submitter
- p.Pro159= Single submitter
- p.Pro174= Single submitter
- p.Pro182= Single submitter
- p.Pro201= Single submitter
- p.Pro213= Single submitter
- p.Pro219= Single submitter Cardiovascular phenotype
- p.Pro266= Single submitter
- p.Pro279= Single submitter
- p.Pro32= Single submitter
- p.Pro35= Single submitter Cardiovascular phenotype
- p.Pro39= Single submitter
- p.Pro66= Single submitter Cardiovascular phenotype
- p.Pro77Ser Single submitter Cardiovascular phenotype
- p.Ser140= Single submitter Cardiovascular phenotype
- p.Ser161= Single submitter Cardiovascular phenotype
- p.Ser232Ala Single submitter Cardiovascular phenotype
- p.Ser379= Single submitter familial thoracic aortic aneurysm and aortic dissection
- p.Ser389= Single submitter
- p.Ser56= Single submitter Cardiovascular phenotype
- p.Thr113Ala Single submitter Cardiovascular phenotype
- p.Thr120= Single submitter
- p.Thr131= Single submitter Cardiovascular phenotype
- p.Thr392= Single submitter Cardiovascular phenotype
- p.Thr403= Single submitter Cardiovascular phenotype
- p.Thr89= Single submitter Cardiovascular phenotype
- p.Tyr177= Single submitter
- p.Tyr190= Single submitter
- p.Tyr207= Single submitter Cardiovascular phenotype
- p.Tyr227= Single submitter
- p.Tyr304= Single submitter
- p.Tyr334= Single submitter Cardiovascular phenotype
- p.Val163= Single submitter
Uncertain significance 360
Showing the top 300 by review status; the full set is in the sitemap.
- c.1035+4T>A Multiple submitters
- c.1247+1G>A Multiple submitters Cardiovascular phenotype
- c.1247+5G>A Multiple submitters LOX-related disorder
- c.631+6T>G Multiple submitters
- p.Ala100Pro Multiple submitters aortic aneurysm, familial thoracic 10 ⚠
- p.Ala100Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Ala102Thr Multiple submitters ⚠
- p.Ala107Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Ala147Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Ala224Pro Multiple submitters ⚠
- p.Ala246Pro Multiple submitters ⚠
- p.Arg122Cys Multiple submitters aortic aneurysm, familial thoracic 10 ⚠
- p.Arg162Cys Multiple submitters Cardiovascular phenotype ⚠
- p.Arg281Gln Multiple submitters Cardiovascular phenotype ⚠
- p.Arg281Pro Multiple submitters Cardiovascular phenotype ⚠
- p.Arg2Ser Multiple submitters ⚠
- p.Arg314Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Arg337Gln Multiple submitters Cardiovascular phenotype
- p.Arg397Cys Multiple submitters aortic aneurysm, familial thoracic 10 ⚠
- p.Arg68Pro Multiple submitters aortic aneurysm, familial thoracic 10 ⚠
- p.Arg70Trp Multiple submitters ⚠
- p.Arg88Ser Multiple submitters aortic aneurysm, familial thoracic 10 ⚠
- p.Arg95Gly Multiple submitters Cardiovascular phenotype ⚠
- p.Arg98Cys Multiple submitters ⚠
- p.Arg98Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
- p.Asn144Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Asn173His Multiple submitters Cardiovascular phenotype ⚠
- p.Asn243Ser Multiple submitters Cardiovascular phenotype
- p.Asn51Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asn81Asp Multiple submitters ⚠
- p.Asp164Val Multiple submitters Cardiovascular phenotype ⚠
- p.Asp214Asn Multiple submitters Cardiovascular phenotype ⚠
- p.Asp258Asn Multiple submitters aortic aneurysm, familial thoracic 10
- p.Asp308Val Multiple submitters Cardiovascular phenotype ⚠
- p.Asp360Glu Multiple submitters Cardiovascular phenotype ⚠
- p.Asp368Asn Multiple submitters aortic aneurysm, familial thoracic 10 ⚠
- p.Asp390Ala Multiple submitters Cardiovascular phenotype ⚠
- p.Asp71Glu Multiple submitters Cardiovascular phenotype ⚠
- p.Asp71His Multiple submitters Cardiovascular phenotype ⚠
- p.Cys340Arg Multiple submitters Cardiovascular phenotype ⚠
- p.Gln223Arg Multiple submitters Cardiovascular phenotype ⚠
- p.Glu300Gly Multiple submitters Cardiovascular phenotype ⚠
- p.Glu34Gln Multiple submitters Cardiovascular phenotype ⚠
- p.Gly128Asp Multiple submitters Cardiovascular phenotype ⚠
- p.Gly128Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Gly165Asp Multiple submitters Cardiovascular phenotype ⚠
- p.Gly27Val Multiple submitters Cardiovascular phenotype ⚠
- p.Gly411Ala Multiple submitters Cardiovascular phenotype ⚠
- p.Gly411Asp Multiple submitters aortic aneurysm, familial thoracic 10 ⚠
- p.Gly411Val Multiple submitters Cardiovascular phenotype ⚠
- p.Gly52Arg Multiple submitters Cardiovascular phenotype ⚠
- p.Gly52Trp Multiple submitters Cardiovascular phenotype ⚠
- p.Gly61Arg Multiple submitters Cardiovascular phenotype ⚠
- p.His259Gln Multiple submitters Cardiovascular phenotype ⚠
- p.Ile364Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Ile366Thr Multiple submitters ⚠
- p.Ile375Leu Multiple submitters Cardiovascular phenotype ⚠
- p.Ile46Asn Multiple submitters aortic aneurysm, familial thoracic 10 ⚠
- p.Leu18Ile Multiple submitters Cardiovascular phenotype ⚠
- p.Leu263Pro Multiple submitters ⚠
- p.Leu92Pro Multiple submitters Cardiovascular phenotype ⚠
- p.Lys270Arg Multiple submitters Cardiovascular phenotype ⚠
- p.Lys320Thr Multiple submitters ⚠
- p.Phe125= Multiple submitters
- p.Phe55Leu Multiple submitters ⚠
- p.Pro174His Multiple submitters Cardiovascular phenotype ⚠
- p.Pro182Arg Multiple submitters Cardiovascular phenotype ⚠
- p.Pro195Leu Multiple submitters Cardiovascular phenotype ⚠
- p.Pro282Ala Multiple submitters Cardiovascular phenotype ⚠
- p.Pro31Ser Multiple submitters ⚠
- p.Pro35Leu Multiple submitters ⚠
- p.Pro371Ala Multiple submitters Cardiovascular phenotype ⚠
- p.Pro416Leu Multiple submitters ⚠
- p.Pro72Arg Multiple submitters Cardiovascular phenotype ⚠
- p.Pro87Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Pro90Arg Multiple submitters ⚠
- p.Ser155Ile Multiple submitters Cardiovascular phenotype ⚠
- p.Ser247Arg Multiple submitters Cardiovascular phenotype ⚠
- p.Ser247Arg Multiple submitters Cardiovascular phenotype
- p.Ser275Thr Multiple submitters Cardiovascular phenotype ⚠
- p.Ser329Tyr Multiple submitters aortic aneurysm, familial thoracic 10 ⚠
- p.Ser83Phe Multiple submitters Cardiovascular phenotype ⚠
- p.Thr106Met Multiple submitters Cardiovascular phenotype ⚠
- p.Thr113Ile Multiple submitters ⚠
- p.Thr120Ile Multiple submitters Cardiovascular phenotype ⚠
- p.Thr189Ala Multiple submitters ⚠
- p.Thr189Ile Multiple submitters Cardiovascular phenotype ⚠
- p.Thr205Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Thr311Ser Multiple submitters Cardiovascular phenotype ⚠
- p.Thr344Ser Multiple submitters ⚠
- p.Thr403Ala Multiple submitters Cardiovascular phenotype
- p.Thr99Ala Multiple submitters Cardiovascular phenotype ⚠
- p.Trp42Cys Multiple submitters ⚠
- p.Tyr175Cys Multiple submitters ⚠
- p.Tyr203His Multiple submitters Cardiovascular phenotype ⚠
- p.Tyr257His Multiple submitters Cardiovascular phenotype ⚠
- p.Tyr384Phe Multiple submitters Cardiovascular phenotype ⚠
- p.Tyr408fs Multiple submitters
- p.Val216Glu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
- p.Val54Met Multiple submitters Cardiovascular phenotype ⚠
- c.1035+6T>C Single submitter
- c.1036-3T>G Single submitter
- c.1132-10T>A Single submitter
- c.1247+1G>C Single submitter Cardiovascular phenotype
- c.1247+3_1247+6del Single submitter
- c.1247+4A>T Single submitter
- c.1247+5G>C Single submitter
- c.1248-14T>A Single submitter
- c.740+3A>G Single submitter
- c.740+5G>A Single submitter Cardiovascular phenotype
- c.740+6G>C Single submitter
- c.741-3C>T Single submitter
- c.878+12G>T Single submitter aortic aneurysm, familial thoracic 10
- c.878+5G>A Single submitter
- c.879-11T>A Single submitter
- c.879-1G>A Single submitter Cardiovascular phenotype
- p.Ala100Ser Single submitter ⚠
- p.Ala100Val Single submitter ⚠
- p.Ala107Val Single submitter ⚠
- p.Ala114Asp Single submitter Cardiovascular phenotype ⚠
- p.Ala114Ser Single submitter Cardiovascular phenotype ⚠
- p.Ala114Tyr Single submitter
- p.Ala121Pro Single submitter Cardiovascular phenotype ⚠
- p.Ala134Asp Single submitter ⚠
- p.Ala134Pro Single submitter Cardiovascular phenotype ⚠
- p.Ala139Thr Single submitter ⚠
- p.Ala142Gly Single submitter Cardiovascular phenotype ⚠
- p.Ala142Val Single submitter ⚠
- p.Ala147Glu Single submitter Cardiovascular phenotype ⚠
- p.Ala147Gly Single submitter ⚠
- p.Ala17Glu Single submitter Cardiovascular phenotype ⚠
- p.Ala17Gly Single submitter ⚠
- p.Ala224Thr Single submitter ⚠
- p.Ala22Asp Single submitter Cardiovascular phenotype ⚠
- p.Ala22Gly Single submitter ⚠
- p.Ala22Thr Single submitter ⚠
- p.Ala239Pro Single submitter Cardiovascular phenotype ⚠
- p.Ala246Ser Single submitter Cardiovascular phenotype ⚠
- p.Ala249Thr Single submitter Cardiovascular phenotype ⚠
- p.Ala249Val Single submitter ⚠
- p.Ala342Thr Single submitter ⚠
- p.Ala38Ser Single submitter ⚠
- p.Ala407Gly Single submitter ⚠
- p.Ala407Thr Single submitter Cardiovascular phenotype ⚠
- p.Ala407Val Single submitter ⚠
- p.Ala409Thr Single submitter ⚠
- p.Ala4Val Single submitter Cardiovascular phenotype ⚠
- p.Ala82Thr Single submitter Cardiovascular phenotype ⚠
- p.Ala84Ser Single submitter ⚠
- p.Arg105Gln Single submitter Cardiovascular phenotype ⚠
- p.Arg122Gly Single submitter Cardiovascular phenotype ⚠
- p.Arg133Lys Single submitter Cardiovascular phenotype ⚠
- p.Arg133Thr Single submitter Cardiovascular phenotype ⚠
- p.Arg135Cys Single submitter Cardiovascular phenotype ⚠
- p.Arg158Leu Single submitter ⚠
- p.Arg162His Single submitter ⚠
- p.Arg162Leu Single submitter Cardiovascular phenotype ⚠
- p.Arg200Gln Single submitter Cardiovascular phenotype ⚠
- p.Arg260Gly Single submitter ⚠
- p.Arg268Thr Single submitter ⚠
- p.Arg2Cys Single submitter ⚠
- p.Arg314Ile Single submitter ⚠
- p.Arg314Ser Single submitter Cardiovascular phenotype ⚠
- p.Arg336Lys Single submitter ⚠
- p.Arg336Trp Single submitter ⚠
- p.Arg401Cys Single submitter ⚠
- p.Arg401Gly Single submitter ⚠
- p.Arg401His Single submitter ⚠
- p.Arg43His Single submitter Cardiovascular phenotype ⚠
- p.Arg43Leu Single submitter ⚠
- p.Arg43Ser Single submitter Cardiovascular phenotype ⚠
- p.Arg68Leu Single submitter ⚠
- p.Arg69Leu Single submitter Cardiovascular phenotype ⚠
- p.Arg70Gln Single submitter Cardiovascular phenotype ⚠
- p.Arg95Cys Single submitter Cardiovascular phenotype ⚠
- p.Asn243Asp Single submitter ⚠
- p.Asn243Lys Single submitter ⚠
- p.Asn373Lys Single submitter Cardiovascular phenotype ⚠
- p.Asn381Lys Single submitter Cardiovascular phenotype ⚠
- p.Asn381Tyr Single submitter ⚠
- p.Asn394Ser Single submitter ⚠
- p.Asn50Ile Single submitter Cardiovascular phenotype ⚠
- p.Asn50Lys Single submitter ⚠
- p.Asp214His Single submitter ⚠
- p.Asp256His Single submitter ⚠
- p.Asp258Gly Single submitter ⚠
- p.Asp276His Single submitter ⚠
- p.Asp305Asn Single submitter Cardiovascular phenotype ⚠
- p.Asp305Glu Single submitter ⚠
- p.Asp305Gly Single submitter Cardiovascular phenotype ⚠
- p.Asp327Glu Single submitter ⚠
- p.Asp353Val Single submitter ⚠
- p.Asp358His Single submitter ⚠
- p.Asp360Asn Single submitter ⚠
- p.Cys16Ser Single submitter ⚠
- p.Cys21Tyr Single submitter ⚠
- p.Cys238Arg Single submitter ⚠
- p.Cys238Tyr Single submitter ⚠
- p.Cys244Ter Single submitter
- p.Cys351Arg Single submitter ⚠
- p.Cys412Ser Single submitter ⚠
- p.Gln145His Single submitter Cardiovascular phenotype ⚠
- p.Gln223Leu Single submitter ⚠
- p.Gln267Arg Single submitter ⚠
- p.Gln28Leu Single submitter Cardiovascular phenotype ⚠
- p.Gln29Arg Single submitter
- p.Gln29Leu Single submitter Cardiovascular phenotype ⚠
- p.Gln345Arg Single submitter Cardiovascular phenotype ⚠
- p.Gln44Arg Single submitter ⚠
- p.Gln44His Single submitter aortic aneurysm, familial thoracic 10 ⚠
- p.Gln63His Single submitter Cardiovascular phenotype ⚠
- p.Gln65Arg Single submitter ⚠
- p.Gln65Glu Single submitter ⚠
- p.Gln67Glu Single submitter ⚠
- p.Gln67Leu Single submitter ⚠
- p.Gln86Lys Single submitter Cardiovascular phenotype ⚠
- p.Glu241Asp Single submitter ⚠
- p.Glu241Gln Single submitter ⚠
- p.Glu241Gly Single submitter ⚠
- p.Glu242Lys Single submitter Cardiovascular phenotype ⚠
- p.Glu34Gly Single submitter Cardiovascular phenotype ⚠
- p.Glu34Lys Single submitter ⚠
- p.Gly111Ala Single submitter ⚠
- p.Gly111Val Single submitter ⚠
- p.Gly11Ala Single submitter ⚠
- p.Gly138Asp Single submitter Cardiovascular phenotype ⚠
- p.Gly149Arg Single submitter ⚠
- p.Gly149Glu Single submitter ⚠
- p.Gly165Cys Single submitter ⚠
- p.Gly197Cys Single submitter ⚠
- p.Gly197Ser Single submitter ⚠
- p.Gly197Val Single submitter ⚠
- p.Gly202Arg Single submitter ⚠
- p.Gly204Ser Single submitter ⚠
- p.Gly206Asp Single submitter Cardiovascular phenotype ⚠
- p.Gly206Ser Single submitter ⚠
- p.Gly273Arg Single submitter ⚠
- p.Gly318Ser Single submitter ⚠
- p.Gly356Asp Single submitter Cardiovascular phenotype ⚠
- p.Gly52Glu Single submitter Cardiovascular phenotype ⚠
- p.Gly61Asp Single submitter ⚠
- p.Gly73Ser Single submitter ⚠
- p.Gly78Ser Single submitter Cardiovascular phenotype ⚠
- p.His123Arg Single submitter Cardiovascular phenotype ⚠
- p.His292Arg Single submitter ⚠
- p.His292Leu Single submitter ⚠
- p.His292Tyr Single submitter ⚠
- p.His294Tyr Single submitter ⚠
- p.His296Arg Single submitter ⚠
- p.His335Asp Single submitter Cardiovascular phenotype ⚠
- p.His343Leu Single submitter Cardiovascular phenotype ⚠
- p.His405fs Single submitter
- p.His405Tyr Single submitter ⚠
- p.Ile222Val Single submitter ⚠
- p.Ile359Thr Single submitter ⚠
- p.Ile364Val Single submitter ⚠
- p.Ile366Val Single submitter ⚠
- p.Ile46Val Single submitter Cardiovascular phenotype ⚠
- p.Leu154Pro Single submitter ⚠
- p.Leu15Phe Single submitter Cardiovascular phenotype ⚠
- p.Leu18Pro Single submitter ⚠
- p.Leu212Ile Single submitter Cardiovascular phenotype ⚠
- p.Leu245Gln Single submitter ⚠
- p.Leu245Pro Single submitter ⚠
- p.Leu306Pro Single submitter aortic aneurysm, familial thoracic 10 ⚠
- p.Leu325Pro Single submitter Cardiovascular phenotype ⚠
- p.Leu8His Single submitter ⚠
- p.Leu8Val Single submitter ⚠
- p.Leu9Pro Single submitter ⚠
- p.Lys230del Single submitter
- p.Lys320Ile Single submitter Cardiovascular phenotype ⚠
- p.Met166Thr Single submitter ⚠
- p.Met166Val Single submitter Cardiovascular phenotype ⚠
- p.Met231Leu Single submitter ⚠
- p.Met233Ile Single submitter ⚠
- p.Met233Lys Single submitter Cardiovascular phenotype ⚠
- p.Met298Thr Single submitter ⚠
- p.Phe125Leu Single submitter ⚠
- p.Pro119Ser Single submitter Cardiovascular phenotype ⚠
- p.Pro12Ser Single submitter Cardiovascular phenotype ⚠
- p.Pro152His Single submitter ⚠
- p.Pro152Leu Single submitter ⚠
- p.Pro152Thr Single submitter Cardiovascular phenotype ⚠
- p.Pro174Thr Single submitter Cardiovascular phenotype ⚠
- p.Pro182Ser Single submitter ⚠
- p.Pro195Arg Single submitter Cardiovascular phenotype ⚠
- p.Pro195His Single submitter ⚠
- p.Pro201Ala Single submitter ⚠
- p.Pro201Ser Single submitter ⚠
- p.Pro23Leu Single submitter ⚠
- p.Pro266His Single submitter Cardiovascular phenotype ⚠
- p.Pro282Gln Single submitter Cardiovascular phenotype ⚠
- p.Pro32Arg Single submitter aortic aneurysm, familial thoracic 10 ⚠
- p.Pro36Thr Single submitter ⚠
- p.Pro387Ala Single submitter ⚠
- p.Pro387Leu Single submitter ⚠
- p.Pro416Ser Single submitter Cardiovascular phenotype ⚠
- p.Pro72Leu Single submitter LOX-related disorder ⚠
- p.Pro72Thr Single submitter ⚠
- p.Pro87Arg Single submitter ⚠