FOXE3 — 582 ClinVar variants

All ClinVar germline FOXE3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 326 flagged for review →

19 Pathogenic · 4 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 25 Conflicting · 6 Benign · 13 Benign/Likely benign · 123 Likely benign · 383 Uncertain significance

Full FOXE3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 326

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 9

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

FOXE3 p.Ala176Val Conflicting Single submitter
Cardiovascular phenotype
FOXE3 p.Ala56Thr Conflicting Single submitter
congenital primary aphakia
FOXE3 p.Arg104Cys Conflicting Single submitter
congenital primary aphakia
FOXE3 p.Asp153His Conflicting Single submitter
congenital primary aphakia
FOXE3 p.Asp156Asn Conflicting Single submitter
Cardiovascular phenotype
FOXE3 p.Gly207Arg Conflicting Single submitter
congenital primary aphakia
FOXE3 p.Met82Val Conflicting Single submitter
congenital primary aphakia
FOXE3 p.Pro235Ser Conflicting Single submitter
familial thoracic aortic aneurysm and aortic dissection
FOXE3 p.Tyr144Cys Conflicting Single submitter
FOXE3-related disorder

Predictors lean, ClinVar uncertain 284

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 284

FOXE3 p.Ala170Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Ala189Val Uncertain significance Multiple submitters
congenital primary aphakia
FOXE3 p.Ala18Pro Uncertain significance Multiple submitters
congenital primary aphakia
FOXE3 p.Ala206Asp Uncertain significance Multiple submitters
anterior segment dysgenesis
FOXE3 p.Ala214Val Uncertain significance Multiple submitters
anterior segment dysgenesis
FOXE3 p.Ala21Thr Uncertain significance Multiple submitters
congenital primary aphakia
FOXE3 p.Ala234Val Uncertain significance Multiple submitters
congenital primary aphakia
FOXE3 p.Ala245Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Ala246Thr Uncertain significance Multiple submitters
congenital primary aphakia
FOXE3 p.Ala247Pro Uncertain significance Multiple submitters
congenital primary aphakia
FOXE3 p.Ala255Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Ala257Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Ala295Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Ala44Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Ala45Glu Uncertain significance Multiple submitters
congenital primary aphakia
FOXE3 p.Ala45Val Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Ala51Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Ala95Ser Uncertain significance Multiple submitters
congenital primary aphakia
FOXE3 p.Ala96Gly Uncertain significance Multiple submitters
congenital primary aphakia
FOXE3 p.Arg104His Uncertain significance Multiple submitters
congenital primary aphakia
FOXE3 p.Arg120Cys Uncertain significance Multiple submitters
congenital primary aphakia
FOXE3 p.Arg163Cys Uncertain significance Multiple submitters
congenital primary aphakia
FOXE3 p.Arg163His Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Arg164Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Arg268Cys Uncertain significance Multiple submitters
anterior segment dysgenesis
FOXE3 p.Arg275Leu Uncertain significance Multiple submitters
anterior segment dysgenesis
FOXE3 p.Arg275Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Arg63Pro Uncertain significance Multiple submitters
anterior segment dysgenesis
FOXE3 p.Arg64Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Arg90Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Arg91His Uncertain significance Multiple submitters
congenital primary aphakia
FOXE3 p.Arg99Cys Uncertain significance Multiple submitters
congenital primary aphakia
FOXE3 p.Asn138Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Asn157Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Asn157Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Asn224Lys Uncertain significance Multiple submitters
congenital primary aphakia
FOXE3 p.Glu135Gly Uncertain significance Multiple submitters
congenital primary aphakia
FOXE3 p.Glu236Lys Uncertain significance Multiple submitters
anterior segment dysgenesis
FOXE3 p.Glu36Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Glu43Ala Uncertain significance Multiple submitters
congenital primary aphakia
FOXE3 p.Glu43Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Gly181Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Gly209Arg Uncertain significance Multiple submitters
congenital primary aphakia
FOXE3 p.Gly279Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Gly291Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Gly291Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Gly34Val Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Gly49Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Gly49Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.His86Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Leu161Val Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Leu229Ile Uncertain significance Multiple submitters
congenital primary aphakia
FOXE3 p.Leu232Val Uncertain significance Multiple submitters
anterior segment dysgenesis
FOXE3 p.Leu261Val Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Leu296Val Uncertain significance Multiple submitters
congenital primary aphakia
FOXE3 p.Lys165Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Lys168Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Met154Val Uncertain significance Multiple submitters
anterior segment dysgenesis
FOXE3 p.Met7Val Uncertain significance Multiple submitters
congenital primary aphakia
FOXE3 p.Pro112Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Pro133Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Pro139Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Pro180Leu Uncertain significance Multiple submitters
congenital primary aphakia
FOXE3 p.Pro185Leu Uncertain significance Multiple submitters
anterior segment dysgenesis
FOXE3 p.Pro187Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Pro187Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Pro193Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Pro202Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Pro202Ser Uncertain significance Multiple submitters
anterior segment dysgenesis
FOXE3 p.Pro210Arg Uncertain significance Multiple submitters
congenital primary aphakia
FOXE3 p.Pro235Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Pro235Thr Uncertain significance Multiple submitters
anterior segment dysgenesis
FOXE3 p.Pro266Ser Uncertain significance Multiple submitters
anterior segment dysgenesis
FOXE3 p.Pro280Arg Uncertain significance Multiple submitters
anterior segment dysgenesis
FOXE3 p.Pro280Ser Uncertain significance Multiple submitters
anterior segment dysgenesis
FOXE3 p.Pro285His Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Pro28Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Pro298Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Pro29Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Pro301Leu Uncertain significance Multiple submitters
anterior segment dysgenesis
FOXE3 p.Pro309Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Pro31Gln Uncertain significance Multiple submitters
congenital primary aphakia
FOXE3 p.Pro31Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Pro57Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Pro59Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Pro72Ser Uncertain significance Multiple submitters
congenital primary aphakia
FOXE3 p.Ser221Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Thr124Met Uncertain significance Multiple submitters
anterior segment dysgenesis
FOXE3 p.Tyr144His Uncertain significance Multiple submitters
anterior segment dysgenesis
FOXE3 p.Tyr188His Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Val270Glu Uncertain significance Multiple submitters
congenital primary aphakia
FOXE3 p.Ala152Thr Uncertain significance Single submitter
Cardiovascular phenotype
FOXE3 p.Ala170Val Uncertain significance Single submitter
Cardiovascular phenotype
FOXE3 p.Ala174Val Uncertain significance Single submitter
Cardiovascular phenotype
FOXE3 p.Ala176Pro Uncertain significance Single submitter
Cardiovascular phenotype
FOXE3 p.Ala178Pro Uncertain significance Single submitter
Cardiovascular phenotype
FOXE3 p.Ala179Thr Uncertain significance Single submitter
congenital primary aphakia
FOXE3 p.Ala194Gly Uncertain significance Single submitter
Cardiovascular phenotype
FOXE3 p.Ala194Thr Uncertain significance Single submitter
anterior segment dysgenesis
FOXE3 p.Ala21Ser Uncertain significance Single submitter
FOXE3 p.Ala230Gly Uncertain significance Single submitter
anterior segment dysgenesis
FOXE3 p.Ala242Pro Uncertain significance Single submitter
congenital primary aphakia
FOXE3 p.Ala242Thr Uncertain significance Single submitter
anterior segment dysgenesis
FOXE3 p.Ala242Val Uncertain significance Single submitter
Cardiovascular phenotype
FOXE3 p.Ala246Gly Uncertain significance Single submitter
Cardiovascular phenotype
FOXE3 p.Ala247Thr Uncertain significance Single submitter
anterior segment dysgenesis
FOXE3 p.Ala247Val Uncertain significance Single submitter
Cardiovascular phenotype
FOXE3 p.Ala248Ser Uncertain significance Single submitter
anterior segment dysgenesis
FOXE3 p.Ala249Val Uncertain significance Single submitter
FOXE3 p.Ala254Thr Uncertain significance Single submitter
anterior segment dysgenesis
FOXE3 p.Ala294Thr Uncertain significance Single submitter
anterior segment dysgenesis
FOXE3 p.Ala295Val Uncertain significance Single submitter
anterior segment dysgenesis
FOXE3 p.Ala2Gly Uncertain significance Single submitter
Cardiovascular phenotype
FOXE3 p.Ala312Pro Uncertain significance Single submitter
FOXE3 p.Ala33Thr Uncertain significance Single submitter
congenital primary aphakia
FOXE3 p.Ala45Thr Uncertain significance Single submitter
anterior segment dysgenesis
FOXE3 p.Ala46Pro Uncertain significance Single submitter
congenital primary aphakia
FOXE3 p.Ala51Glu Uncertain significance Single submitter
Cardiovascular phenotype
FOXE3 p.Ala52Pro Uncertain significance Single submitter
Cardiovascular phenotype
FOXE3 p.Ala56Glu Uncertain significance Single submitter
Cardiovascular phenotype
FOXE3 p.Ala56Val Uncertain significance Single submitter
anterior segment dysgenesis
FOXE3 p.Ala81Val Uncertain significance Single submitter
Cardiovascular phenotype
FOXE3 p.Ala87Asp Uncertain significance Single submitter
Cardiovascular phenotype
FOXE3 p.Arg104Pro Uncertain significance Single submitter
anterior segment dysgenesis
FOXE3 p.Arg104Ser Uncertain significance Single submitter
anterior segment dysgenesis
FOXE3 p.Arg109Cys Uncertain significance Single submitter
anterior segment dysgenesis
FOXE3 p.Arg134Cys Uncertain significance Single submitter
anterior segment dysgenesis
FOXE3 p.Arg162Gln Uncertain significance Single submitter
aortic aneurysm, familial thoracic 11, susceptibility to
FOXE3 p.Arg162Leu Uncertain significance Single submitter
Cardiovascular phenotype
FOXE3 p.Arg164Gly Uncertain significance Single submitter
Cardiovascular phenotype
FOXE3 p.Arg164Ser Uncertain significance Single submitter
congenital primary aphakia
FOXE3 p.Arg166Cys Uncertain significance Single submitter
anterior segment dysgenesis
FOXE3 p.Arg166Gly Uncertain significance Single submitter
anterior segment dysgenesis
FOXE3 p.Arg166Ser Uncertain significance Single submitter
Cardiovascular phenotype
FOXE3 p.Arg169His Uncertain significance Single submitter
Cardiovascular phenotype
FOXE3 p.Arg169Ser Uncertain significance Single submitter
anterior segment dysgenesis
FOXE3 p.Arg268Pro Uncertain significance Single submitter
anterior segment dysgenesis
FOXE3 p.Arg268Ser Uncertain significance Single submitter
anterior segment dysgenesis
FOXE3 p.Arg275Cys Uncertain significance Single submitter
congenital primary aphakia
FOXE3 p.Arg275Pro Uncertain significance Single submitter
Cardiovascular phenotype
FOXE3 p.Arg39Gln Uncertain significance Single submitter
Cardiovascular phenotype
FOXE3 p.Arg48Pro Uncertain significance Single submitter
Cardiovascular phenotype
FOXE3 p.Arg61Gly Uncertain significance Single submitter
Cardiovascular phenotype
FOXE3 p.Arg62Gly Uncertain significance Single submitter
Cardiovascular phenotype
FOXE3 p.Arg62Pro Uncertain significance Single submitter
anterior segment dysgenesis
FOXE3 p.Arg65Pro Uncertain significance Single submitter
anterior segment dysgenesis
FOXE3 p.Asn117Lys Uncertain significance Single submitter
congenital primary aphakia
FOXE3 p.Asn138His Uncertain significance Single submitter
Cardiovascular phenotype
FOXE3 p.Asp127Gly Uncertain significance Single submitter
FOXE3 p.Asp148Glu Uncertain significance Single submitter
congenital primary aphakia

Predictors split 33

The independent predictors disagree with each other — read with care.

FOXE3 p.Arg113Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Arg64Leu Uncertain significance Multiple submitters
congenital primary aphakia
FOXE3 p.Leu319Pro Uncertain significance Multiple submitters
anterior segment dysgenesis
FOXE3 p.Lys114Gln Uncertain significance Multiple submitters
anterior segment dysgenesis
FOXE3 p.Pro203Gln Uncertain significance Multiple submitters
congenital primary aphakia
FOXE3 p.Pro55Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
FOXE3 p.Pro73Ala Uncertain significance Multiple submitters
anterior segment dysgenesis
FOXE3 p.Ala95Pro Uncertain significance Single submitter
FOXE3 p.Arg109His Uncertain significance Single submitter
anterior segment dysgenesis
FOXE3 p.Arg65Gln Uncertain significance Single submitter
congenital primary aphakia
FOXE3 p.Arg90Gly Uncertain significance Single submitter
anterior segment dysgenesis
FOXE3 p.Arg99His Uncertain significance Single submitter
anterior segment dysgenesis
FOXE3 p.Asp156Ala Uncertain significance Single submitter
FOXE3 p.Asp220Asn Uncertain significance Single submitter
Cardiovascular phenotype
FOXE3 p.Asp220Gly Uncertain significance Single submitter
Cardiovascular phenotype
FOXE3 p.Gln116Arg Uncertain significance Single submitter
Cardiovascular phenotype
FOXE3 p.Glu316Lys Uncertain significance Single submitter
anterior segment dysgenesis
FOXE3 p.Gly314Arg Uncertain significance Single submitter
Cardiovascular phenotype
FOXE3 p.Gly70Arg Uncertain significance Single submitter
congenital primary aphakia
FOXE3 p.Gly89Arg Uncertain significance Single submitter
anterior segment dysgenesis
FOXE3 p.Gly89Ser Uncertain significance Single submitter
congenital primary aphakia
FOXE3 p.Ile97Val Likely pathogenic Single submitter
congenital primary aphakia
FOXE3 p.Phe13Leu Uncertain significance Single submitter
congenital primary aphakia
FOXE3 p.Phe186Leu Uncertain significance Single submitter
Cardiovascular phenotype
FOXE3 p.Pro112Gln Uncertain significance Single submitter
anterior segment dysgenesis
FOXE3 p.Pro202Arg Uncertain significance Single submitter
Cardiovascular phenotype
FOXE3 p.Pro203Arg Uncertain significance Single submitter
anterior segment dysgenesis
FOXE3 p.Pro210His Uncertain significance Single submitter
congenital primary aphakia
FOXE3 p.Pro55Leu Likely benign Single submitter
Cardiovascular phenotype
FOXE3 p.Pro66Leu Uncertain significance Single submitter
anterior segment dysgenesis
FOXE3 p.Ser221Arg Uncertain significance Single submitter
congenital primary aphakia
FOXE3 p.Tyr318His Uncertain significance Single submitter
Cardiovascular phenotype
FOXE3 p.Val132Leu Uncertain significance Single submitter
anterior segment dysgenesis

All FOXE3 variants

Pathogenic 19

p.Cys240Ter Multiple submitters FOXE3-related disorder
p.Ala179fs Single submitter anterior segment dysgenesis
p.Glu236Ter Single submitter anterior segment dysgenesis
p.Gly158Arg Single submitter anterior segment dysgenesis
p.Ile97Met Single submitter congenital primary aphakia
p.Leu19fs Single submitter congenital primary aphakia
p.Lys131_Gly140delinsAsnGlyGlnCysSerPheIleHisGlySerTrpGluTer Single submitter anterior segment dysgenesis
p.Met7fs Single submitter anterior segment dysgenesis
p.Phe186fs Single submitter congenital primary aphakia
p.Pro292fs Single submitter congenital primary aphakia
p.Trp115fs Single submitter anterior segment dysgenesis
p.Tyr74Ter Single submitter anterior segment dysgenesis
p.Glu103Lys No assertion criteria cataract 34 multiple types
p.Gly58fs No assertion criteria congenital primary aphakia
p.Leu315fs No assertion criteria congenital primary aphakia
p.Pro182fs No assertion criteria congenital primary aphakia
p.Ter320Arg No assertion criteria cataract 34 multiple types
p.Ter320Leu No assertion criteria congenital primary aphakia
p.Ter320Ser No assertion criteria cataract 34 multiple types

Pathogenic/Likely pathogenic 4

p.Ala78Thr Multiple submitters congenital primary aphakia
p.Arg61fs Multiple submitters FOXE3-related disorder
p.Gly49Ter Multiple submitters congenital primary aphakia
p.Ser211Ter Multiple submitters congenital primary aphakia

Likely pathogenic 9

p.Ala242fs Single submitter
p.Gly158Asp Single submitter
p.Ile97Val Single submitter congenital primary aphakia ⚠
p.Phe129Leu Single submitter congenital primary aphakia
p.Ser75Leu Single submitter
p.Ala96Thr No assertion criteria congenital primary aphakia
p.Arg120Pro No assertion criteria congenital primary aphakia
p.Asp153fs No assertion criteria FOXE3-related disorder
p.Val130Phe No assertion criteria congenital primary aphakia

Conflicting classifications of pathogenicity 25

p.Ala176fs Single submitter anterior segment dysgenesis
p.Ala176Val Single submitter Cardiovascular phenotype ⚠
p.Ala254= Single submitter anterior segment dysgenesis
p.Ala56Thr Single submitter congenital primary aphakia ⚠
p.Arg104Cys Single submitter congenital primary aphakia ⚠
p.Arg166= Single submitter Cardiovascular phenotype
p.Arg65del Single submitter congenital primary aphakia
p.Asp153His Single submitter congenital primary aphakia ⚠
p.Asp156Asn Single submitter Cardiovascular phenotype ⚠
p.Glu236fs Single submitter anterior segment dysgenesis
p.Gly207Arg Single submitter congenital primary aphakia ⚠
p.His121= Single submitter Cardiovascular phenotype
p.Leu199= Single submitter Cardiovascular phenotype
p.Lys168= Single submitter Cardiovascular phenotype
p.Met82Val Single submitter congenital primary aphakia ⚠
p.Phe13= Single submitter anterior segment dysgenesis
p.Phe311fs Single submitter congenital primary aphakia
p.Pro182= Single submitter Cardiovascular phenotype
p.Pro185= Single submitter Cardiovascular phenotype
p.Pro235Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Pro278= Single submitter Cardiovascular phenotype
p.Pro73fs Single submitter Cardiovascular phenotype
p.Ser258= Single submitter Cardiovascular phenotype
p.Ser313= Single submitter Cardiovascular phenotype
p.Tyr144Cys Single submitter FOXE3-related disorder ⚠

Benign 6

c.*72T>C Multiple submitters
c.*77A>G Multiple submitters
p.Ala170= Multiple submitters Cardiovascular phenotype
p.Ala206= Multiple submitters Cardiovascular phenotype
p.Gly49Ala Multiple submitters Cardiovascular phenotype
p.Lys141= Multiple submitters congenital primary aphakia

Benign/Likely benign 13

c.-14G>A Multiple submitters
p.Ala45= Multiple submitters anterior segment dysgenesis
p.Ala78= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Asp6Asn Multiple submitters Cardiovascular phenotype
p.Gly196Ala Multiple submitters anterior segment dysgenesis
p.Gly310Asp Multiple submitters Cardiovascular phenotype
p.Ile80= Multiple submitters Cardiovascular phenotype
p.Leu92= Multiple submitters Cardiovascular phenotype
p.Pro17= Multiple submitters anterior segment dysgenesis
p.Pro276= Multiple submitters congenital primary aphakia
p.Pro53Leu Multiple submitters Cardiovascular phenotype
p.Ser300Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection
p.Val201Met Multiple submitters Cardiovascular phenotype

Likely benign 123

p.Ala151= Multiple submitters anterior segment dysgenesis
p.Ala178= Multiple submitters Cardiovascular phenotype
p.Ala179= Multiple submitters anterior segment dysgenesis
p.Ala2= Multiple submitters Cardiovascular phenotype
p.Ala2= Multiple submitters anterior segment dysgenesis
p.Ala247= Multiple submitters congenital primary aphakia
p.Ala283= Multiple submitters anterior segment dysgenesis
p.Ala294= Multiple submitters Cardiovascular phenotype
p.Ala35= Multiple submitters anterior segment dysgenesis
p.Ala44= Multiple submitters anterior segment dysgenesis
p.Ala46= Multiple submitters anterior segment dysgenesis
p.Arg163= Multiple submitters anterior segment dysgenesis
p.Arg268= Multiple submitters anterior segment dysgenesis
p.Arg39= Multiple submitters congenital primary aphakia
p.Arg64= Multiple submitters congenital primary aphakia
p.Asn126= Multiple submitters Cardiovascular phenotype
p.Glu103= Multiple submitters congenital primary aphakia
p.Glu135= Multiple submitters anterior segment dysgenesis
p.Gly137= Multiple submitters congenital primary aphakia
p.Gly181= Multiple submitters congenital primary aphakia
p.Gly277= Multiple submitters anterior segment dysgenesis
p.Gly279= Multiple submitters anterior segment dysgenesis
p.Gly310= Multiple submitters anterior segment dysgenesis
p.Gly38= Multiple submitters congenital primary aphakia
p.His86= Multiple submitters anterior segment dysgenesis
p.Leu184= Multiple submitters anterior segment dysgenesis
p.Leu19= Multiple submitters anterior segment dysgenesis
p.Leu222= Multiple submitters congenital primary aphakia
p.Leu232= Multiple submitters Cardiovascular phenotype
p.Leu271= Multiple submitters anterior segment dysgenesis
p.Leu94= Multiple submitters anterior segment dysgenesis
p.Phe105= Multiple submitters congenital primary aphakia
p.Pro136= Multiple submitters congenital primary aphakia
p.Pro190= Multiple submitters anterior segment dysgenesis
p.Pro193= Multiple submitters anterior segment dysgenesis
p.Pro195= Multiple submitters Cardiovascular phenotype
p.Pro212= Multiple submitters anterior segment dysgenesis
p.Pro227= Multiple submitters congenital primary aphakia
p.Pro235= Multiple submitters congenital primary aphakia
p.Pro237= Multiple submitters anterior segment dysgenesis
p.Pro243= Multiple submitters Cardiovascular phenotype
p.Pro252= Multiple submitters anterior segment dysgenesis
p.Pro259= Multiple submitters congenital primary aphakia
p.Pro266= Multiple submitters Cardiovascular phenotype
p.Pro292= Multiple submitters anterior segment dysgenesis
p.Pro309= Multiple submitters anterior segment dysgenesis
p.Pro57= Multiple submitters anterior segment dysgenesis
p.Ser25= Multiple submitters anterior segment dysgenesis
p.Thr146= Multiple submitters Cardiovascular phenotype
p.Tyr108= Multiple submitters anterior segment dysgenesis
p.Val223= Multiple submitters Cardiovascular phenotype
c.-12C>A Single submitter
c.*4T>C Single submitter
p.Ala152= Single submitter Cardiovascular phenotype
p.Ala179Pro Single submitter Cardiovascular phenotype
p.Ala192= Single submitter anterior segment dysgenesis
p.Ala194= Single submitter
p.Ala23= Single submitter Cardiovascular phenotype
p.Ala242= Single submitter
p.Ala255= Single submitter Cardiovascular phenotype
p.Ala273= Single submitter anterior segment dysgenesis
p.Ala290= Single submitter Cardiovascular phenotype
p.Ala312= Single submitter Cardiovascular phenotype
p.Ala35Thr Single submitter Cardiovascular phenotype
p.Ala83= Single submitter Cardiovascular phenotype
p.Ala95= Single submitter anterior segment dysgenesis
p.Ala96= Single submitter Cardiovascular phenotype
p.Arg109= Single submitter congenital primary aphakia
p.Arg134= Single submitter Cardiovascular phenotype
p.Arg162= Single submitter Cardiovascular phenotype
p.Arg164= Single submitter anterior segment dysgenesis
p.Arg48= Single submitter anterior segment dysgenesis
p.Arg61= Single submitter congenital primary aphakia
p.Asn122= Single submitter Cardiovascular phenotype
p.Asn143= Single submitter Cardiovascular phenotype
p.Asn157= Single submitter Cardiovascular phenotype
p.Asp220= Single submitter Cardiovascular phenotype
p.Asp267= Single submitter anterior segment dysgenesis
p.Gln116= Single submitter anterior segment dysgenesis
p.Glu50= Single submitter anterior segment dysgenesis
p.Gly140= Single submitter anterior segment dysgenesis
p.Gly142= Single submitter anterior segment dysgenesis
p.Gly196= Single submitter Cardiovascular phenotype
p.Gly209= Single submitter Cardiovascular phenotype
p.Gly314= Single submitter anterior segment dysgenesis
p.Gly58= Single submitter Cardiovascular phenotype
p.Gly60= Single submitter congenital primary aphakia
p.Leu147= Single submitter Cardiovascular phenotype
p.Leu200= Single submitter Cardiovascular phenotype
p.Leu287= Single submitter Cardiovascular phenotype
p.Leu315= Single submitter congenital primary aphakia
p.Leu32= Single submitter anterior segment dysgenesis
p.Lys114= Single submitter Cardiovascular phenotype
p.Pro133= Single submitter Cardiovascular phenotype
p.Pro139= Single submitter Cardiovascular phenotype
p.Pro149= Single submitter anterior segment dysgenesis
p.Pro173= Single submitter anterior segment dysgenesis
p.Pro180= Single submitter Cardiovascular phenotype
p.Pro20= Single submitter Cardiovascular phenotype
p.Pro208= Single submitter anterior segment dysgenesis
p.Pro210= Single submitter Cardiovascular phenotype
p.Pro260= Single submitter anterior segment dysgenesis
p.Pro28= Single submitter congenital primary aphakia
p.Pro285= Single submitter anterior segment dysgenesis
p.Pro55= Single submitter anterior segment dysgenesis
p.Pro55Leu Single submitter Cardiovascular phenotype ⚠
p.Pro57= Single submitter Cardiovascular phenotype
p.Pro59= Single submitter anterior segment dysgenesis
p.Pro66= Single submitter Cardiovascular phenotype
p.Pro9= Single submitter Cardiovascular phenotype
p.Ser14= Single submitter Cardiovascular phenotype
p.Ser263= Single submitter anterior segment dysgenesis
p.Ser263Pro Single submitter
p.Ser75= Single submitter Cardiovascular phenotype
p.Thr102= Single submitter anterior segment dysgenesis
p.Thr124= Single submitter Cardiovascular phenotype
p.Tyr98= Single submitter Cardiovascular phenotype
p.Val201= Single submitter
p.Val201Ala Single submitter Cardiovascular phenotype
p.Val22= Single submitter Cardiovascular phenotype
c.-10G>A No assertion criteria FOXE3-related disorder
p.Ala12= No assertion criteria FOXE3-related disorder
p.Pro72= No assertion criteria FOXE3-related disorder

Uncertain significance 383

Showing the top 300 by review status; the full set is in the sitemap.

p.188YAP[3] Multiple submitters Cardiovascular phenotype
p.192AP[1] Multiple submitters congenital primary aphakia
p.Ala170Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala189Val Multiple submitters congenital primary aphakia ⚠
p.Ala18Pro Multiple submitters congenital primary aphakia ⚠
p.Ala206Asp Multiple submitters anterior segment dysgenesis ⚠
p.Ala214Val Multiple submitters anterior segment dysgenesis ⚠
p.Ala21Thr Multiple submitters congenital primary aphakia ⚠
p.Ala234Val Multiple submitters congenital primary aphakia ⚠
p.Ala245Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala246Thr Multiple submitters congenital primary aphakia ⚠
p.Ala247Pro Multiple submitters congenital primary aphakia ⚠
p.Ala255Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala257Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ala295Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala44Glu Multiple submitters Cardiovascular phenotype ⚠
p.Ala45Glu Multiple submitters congenital primary aphakia ⚠
p.Ala45Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala46_Ala52del Multiple submitters congenital primary aphakia
p.Ala51Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ala95Ser Multiple submitters congenital primary aphakia ⚠
p.Ala96Gly Multiple submitters congenital primary aphakia ⚠
p.Arg104His Multiple submitters congenital primary aphakia ⚠
p.Arg113Pro Multiple submitters Cardiovascular phenotype ⚠
p.Arg120Cys Multiple submitters congenital primary aphakia ⚠
p.Arg163Cys Multiple submitters congenital primary aphakia ⚠
p.Arg163His Multiple submitters Cardiovascular phenotype ⚠
p.Arg164Pro Multiple submitters Cardiovascular phenotype ⚠
p.Arg268Cys Multiple submitters anterior segment dysgenesis ⚠
p.Arg275Leu Multiple submitters anterior segment dysgenesis ⚠
p.Arg275Ser Multiple submitters Cardiovascular phenotype ⚠
p.Arg63Pro Multiple submitters anterior segment dysgenesis ⚠
p.Arg64Gly Multiple submitters Cardiovascular phenotype ⚠
p.Arg64Leu Multiple submitters congenital primary aphakia ⚠
p.Arg65_Pro66insArgArg Multiple submitters anterior segment dysgenesis
p.Arg65dup Multiple submitters anterior segment dysgenesis
p.Arg90His Multiple submitters Cardiovascular phenotype
p.Arg90Leu Multiple submitters Cardiovascular phenotype ⚠
p.Arg91His Multiple submitters congenital primary aphakia ⚠
p.Arg99Cys Multiple submitters congenital primary aphakia ⚠
p.Asn138Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asn157Lys Multiple submitters Cardiovascular phenotype ⚠
p.Asn157Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asn224Lys Multiple submitters congenital primary aphakia ⚠
p.Glu135Gly Multiple submitters congenital primary aphakia ⚠
p.Glu236Lys Multiple submitters anterior segment dysgenesis ⚠
p.Glu36Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu43Ala Multiple submitters congenital primary aphakia ⚠
p.Glu43Lys Multiple submitters Cardiovascular phenotype ⚠
p.Gly181Glu Multiple submitters Cardiovascular phenotype ⚠
p.Gly209Arg Multiple submitters congenital primary aphakia ⚠
p.Gly279Ser Multiple submitters Cardiovascular phenotype ⚠
p.Gly291Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gly291Glu Multiple submitters Cardiovascular phenotype ⚠
p.Gly302= Multiple submitters anterior segment dysgenesis
p.Gly34Val Multiple submitters Cardiovascular phenotype ⚠
p.Gly49Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gly49Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gly60Trp Multiple submitters congenital primary aphakia
p.His86Gln Multiple submitters Cardiovascular phenotype ⚠
p.Leu161Val Multiple submitters Cardiovascular phenotype ⚠
p.Leu229Ile Multiple submitters congenital primary aphakia ⚠
p.Leu232Val Multiple submitters anterior segment dysgenesis ⚠
p.Leu261Val Multiple submitters Cardiovascular phenotype ⚠
p.Leu296Val Multiple submitters congenital primary aphakia ⚠
p.Leu319Gln Multiple submitters congenital primary aphakia
p.Leu319Pro Multiple submitters anterior segment dysgenesis ⚠
p.Lys114Gln Multiple submitters anterior segment dysgenesis ⚠
p.Lys165Arg Multiple submitters Cardiovascular phenotype ⚠
p.Lys168Gln Multiple submitters Cardiovascular phenotype ⚠
p.Met154Val Multiple submitters anterior segment dysgenesis ⚠
p.Met1Ile Multiple submitters anterior segment dysgenesis
p.Met7Val Multiple submitters congenital primary aphakia ⚠
p.Pro112Ser Multiple submitters Cardiovascular phenotype ⚠
p.Pro133Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro139Ala Multiple submitters Cardiovascular phenotype ⚠
p.Pro180Leu Multiple submitters congenital primary aphakia ⚠
p.Pro185Leu Multiple submitters anterior segment dysgenesis ⚠
p.Pro187Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro187Ser Multiple submitters Cardiovascular phenotype ⚠
p.Pro193Ser Multiple submitters Cardiovascular phenotype ⚠
p.Pro195_Gly196insAlaPro Multiple submitters Cardiovascular phenotype
p.Pro202Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro202Ser Multiple submitters anterior segment dysgenesis ⚠
p.Pro203Gln Multiple submitters congenital primary aphakia ⚠
p.Pro210Arg Multiple submitters congenital primary aphakia ⚠
p.Pro235Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro235Thr Multiple submitters anterior segment dysgenesis ⚠
p.Pro266Ser Multiple submitters anterior segment dysgenesis ⚠
p.Pro280_Leu281insGlyPro Multiple submitters Cardiovascular phenotype
p.Pro280Arg Multiple submitters anterior segment dysgenesis ⚠
p.Pro280Ser Multiple submitters anterior segment dysgenesis ⚠
p.Pro285His Multiple submitters Cardiovascular phenotype ⚠
p.Pro28Thr Multiple submitters Cardiovascular phenotype ⚠
p.Pro298Leu Multiple submitters Cardiovascular phenotype ⚠
p.Pro29Arg Multiple submitters Cardiovascular phenotype ⚠
p.Pro301Leu Multiple submitters anterior segment dysgenesis ⚠
p.Pro309Thr Multiple submitters Cardiovascular phenotype ⚠
p.Pro31Gln Multiple submitters congenital primary aphakia ⚠
p.Pro31Ser Multiple submitters Cardiovascular phenotype ⚠
p.Pro55Thr Multiple submitters Cardiovascular phenotype ⚠
p.Pro57Arg Multiple submitters Cardiovascular phenotype ⚠
p.Pro59Gln Multiple submitters Cardiovascular phenotype ⚠
p.Pro72Ser Multiple submitters congenital primary aphakia ⚠
p.Pro73Ala Multiple submitters anterior segment dysgenesis ⚠
p.Ser221Cys Multiple submitters Cardiovascular phenotype ⚠
p.Thr124Met Multiple submitters anterior segment dysgenesis ⚠
p.Tyr144His Multiple submitters anterior segment dysgenesis ⚠
p.Tyr188His Multiple submitters Cardiovascular phenotype ⚠
p.Val270Glu Multiple submitters congenital primary aphakia ⚠
c.-2C>A Single submitter Cardiovascular phenotype
c.-2C>G Single submitter
p.188YAP[1] Single submitter anterior segment dysgenesis
p.Ala106= Single submitter anterior segment dysgenesis
p.Ala152Thr Single submitter Cardiovascular phenotype ⚠
p.Ala170Val Single submitter Cardiovascular phenotype ⚠
p.Ala174Val Single submitter Cardiovascular phenotype ⚠
p.Ala176= Single submitter congenital primary aphakia
p.Ala176Pro Single submitter Cardiovascular phenotype ⚠
p.Ala178Pro Single submitter Cardiovascular phenotype ⚠
p.Ala179Thr Single submitter congenital primary aphakia ⚠
p.Ala194Gly Single submitter Cardiovascular phenotype ⚠
p.Ala194Thr Single submitter anterior segment dysgenesis ⚠
p.Ala214= Single submitter anterior segment dysgenesis
p.Ala21Ser Single submitter ⚠
p.Ala230= Single submitter congenital primary aphakia
p.Ala230Gly Single submitter anterior segment dysgenesis ⚠
p.Ala242Pro Single submitter congenital primary aphakia ⚠
p.Ala242Thr Single submitter anterior segment dysgenesis ⚠
p.Ala242Val Single submitter Cardiovascular phenotype ⚠
p.Ala246Gly Single submitter Cardiovascular phenotype ⚠
p.Ala247Thr Single submitter anterior segment dysgenesis ⚠
p.Ala247Val Single submitter Cardiovascular phenotype ⚠
p.Ala248Ser Single submitter anterior segment dysgenesis ⚠
p.Ala249Val Single submitter ⚠
p.Ala254Thr Single submitter anterior segment dysgenesis ⚠
p.Ala293fs Single submitter anterior segment dysgenesis
p.Ala294Thr Single submitter anterior segment dysgenesis ⚠
p.Ala295Val Single submitter anterior segment dysgenesis ⚠
p.Ala2Gly Single submitter Cardiovascular phenotype ⚠
p.Ala312Pro Single submitter ⚠
p.Ala33Thr Single submitter congenital primary aphakia ⚠
p.Ala45Thr Single submitter anterior segment dysgenesis ⚠
p.Ala46Pro Single submitter congenital primary aphakia ⚠
p.Ala51Glu Single submitter Cardiovascular phenotype ⚠
p.Ala52Pro Single submitter Cardiovascular phenotype ⚠
p.Ala56Glu Single submitter Cardiovascular phenotype ⚠
p.Ala56Val Single submitter anterior segment dysgenesis ⚠
p.Ala81= Single submitter congenital primary aphakia
p.Ala81Ser Single submitter Cardiovascular phenotype
p.Ala81Val Single submitter Cardiovascular phenotype ⚠
p.Ala85Gly Single submitter congenital primary aphakia
p.Ala87= Single submitter congenital primary aphakia
p.Ala87Asp Single submitter Cardiovascular phenotype ⚠
p.Ala95Pro Single submitter ⚠
p.Arg104Pro Single submitter anterior segment dysgenesis ⚠
p.Arg104Ser Single submitter anterior segment dysgenesis ⚠
p.Arg109Cys Single submitter anterior segment dysgenesis ⚠
p.Arg109His Single submitter anterior segment dysgenesis ⚠
p.Arg134Cys Single submitter anterior segment dysgenesis ⚠
p.Arg162Gln Single submitter aortic aneurysm, familial thoracic 11, susceptibility to ⚠
p.Arg162Leu Single submitter Cardiovascular phenotype ⚠
p.Arg164Gly Single submitter Cardiovascular phenotype ⚠
p.Arg164Ser Single submitter congenital primary aphakia ⚠
p.Arg166Cys Single submitter anterior segment dysgenesis ⚠
p.Arg166Gly Single submitter anterior segment dysgenesis ⚠
p.Arg166Ser Single submitter Cardiovascular phenotype ⚠
p.Arg166Ser Single submitter anterior segment dysgenesis
p.Arg169His Single submitter Cardiovascular phenotype ⚠
p.Arg169Ser Single submitter anterior segment dysgenesis ⚠
p.Arg268Pro Single submitter anterior segment dysgenesis ⚠
p.Arg268Ser Single submitter anterior segment dysgenesis ⚠
p.Arg275Cys Single submitter congenital primary aphakia ⚠
p.Arg275Pro Single submitter Cardiovascular phenotype ⚠
p.Arg317Gly Single submitter Cardiovascular phenotype
p.Arg317His Single submitter Cardiovascular phenotype
p.Arg39Gln Single submitter Cardiovascular phenotype ⚠
p.Arg48Pro Single submitter Cardiovascular phenotype ⚠
p.Arg61Gly Single submitter Cardiovascular phenotype ⚠
p.Arg62_Arg63insGly Single submitter anterior segment dysgenesis
p.Arg62Gly Single submitter Cardiovascular phenotype ⚠
p.Arg62Pro Single submitter anterior segment dysgenesis ⚠
p.Arg65Gln Single submitter congenital primary aphakia ⚠
p.Arg65Leu Single submitter congenital primary aphakia
p.Arg65Pro Single submitter anterior segment dysgenesis ⚠
p.Arg69His Single submitter
p.Arg90Gly Single submitter anterior segment dysgenesis ⚠
p.Arg91= Single submitter anterior segment dysgenesis
p.Arg99His Single submitter anterior segment dysgenesis ⚠
p.Asn117Lys Single submitter congenital primary aphakia ⚠
p.Asn138His Single submitter Cardiovascular phenotype ⚠
p.Asp127Gly Single submitter ⚠
p.Asp148Glu Single submitter congenital primary aphakia ⚠
p.Asp156Ala Single submitter ⚠
p.Asp156Glu Single submitter Cardiovascular phenotype
p.Asp220Asn Single submitter Cardiovascular phenotype ⚠
p.Asp220Gly Single submitter Cardiovascular phenotype ⚠
p.Asp244His Single submitter Cardiovascular phenotype ⚠
p.Asp8His Single submitter anterior segment dysgenesis ⚠
p.Cys128Tyr Single submitter Cardiovascular phenotype ⚠
p.Cys239Trp Single submitter anterior segment dysgenesis ⚠
p.Cys253_Pro260del Single submitter anterior segment dysgenesis
p.Cys253Ser Single submitter Cardiovascular phenotype ⚠
p.Cys253Tyr Single submitter Cardiovascular phenotype ⚠
p.Gln116Arg Single submitter Cardiovascular phenotype ⚠
p.Gln308Lys Single submitter anterior segment dysgenesis ⚠
p.Gln68His Single submitter congenital primary aphakia
p.Glu228Gln Single submitter ⚠
p.Glu236Ala Single submitter Cardiovascular phenotype ⚠
p.Glu236Gly Single submitter Cardiovascular phenotype ⚠
p.Glu284delinsAlaArgTer Single submitter congenital primary aphakia
p.Glu284Gly Single submitter congenital primary aphakia ⚠
p.Glu303Ala Single submitter Cardiovascular phenotype ⚠
p.Glu303fs Single submitter Cardiovascular phenotype
p.Glu303Ter Single submitter Cardiovascular phenotype
p.Glu316Lys Single submitter anterior segment dysgenesis ⚠
p.Glu36Gln Single submitter Cardiovascular phenotype ⚠
p.Glu43Asp Single submitter Cardiovascular phenotype ⚠
p.Gly137_Asn138insGluProGly Single submitter anterior segment dysgenesis
p.Gly137Asp Single submitter congenital primary aphakia ⚠
p.Gly137Ser Single submitter ⚠
p.Gly142Val Single submitter congenital primary aphakia ⚠
p.Gly158Cys Single submitter anterior segment dysgenesis ⚠
p.Gly158Ser Single submitter congenital primary aphakia ⚠
p.Gly15Asp Single submitter ⚠
p.Gly196Arg Single submitter Cardiovascular phenotype ⚠
p.Gly196Asp Single submitter anterior segment dysgenesis ⚠
p.Gly196delinsAlaProAla Single submitter Cardiovascular phenotype
p.Gly196Ser Single submitter anterior segment dysgenesis ⚠
p.Gly207Glu Single submitter anterior segment dysgenesis ⚠
p.Gly207Val Single submitter anterior segment dysgenesis ⚠
p.Gly231Arg Single submitter Cardiovascular phenotype ⚠
p.Gly233= Single submitter anterior segment dysgenesis
p.Gly233Ser Single submitter congenital primary aphakia ⚠
p.Gly26Arg Single submitter Cardiovascular phenotype ⚠
p.Gly26Glu Single submitter anterior segment dysgenesis ⚠
p.Gly277Asp Single submitter anterior segment dysgenesis ⚠
p.Gly277fs Single submitter anterior segment dysgenesis
p.Gly291Val Single submitter Cardiovascular phenotype ⚠
p.Gly302fs Single submitter anterior segment dysgenesis
p.Gly314Arg Single submitter Cardiovascular phenotype ⚠
p.Gly38Glu Single submitter congenital primary aphakia ⚠
p.Gly47Arg Single submitter Cardiovascular phenotype ⚠
p.Gly47Cys Single submitter ⚠
p.Gly47Val Single submitter Cardiovascular phenotype ⚠
p.Gly58Arg Single submitter anterior segment dysgenesis ⚠
p.Gly58Asp Single submitter Cardiovascular phenotype ⚠
p.Gly70Arg Single submitter congenital primary aphakia ⚠
p.Gly89Arg Single submitter anterior segment dysgenesis ⚠
p.Gly89Asp Single submitter congenital primary aphakia ⚠
p.Gly89Ser Single submitter congenital primary aphakia ⚠
p.His121Asn Single submitter ⚠
p.His175Gln Single submitter Cardiovascular phenotype ⚠
p.His175Leu Single submitter Cardiovascular phenotype ⚠
p.His175Pro Single submitter congenital primary aphakia ⚠
p.Ile119Thr Single submitter anterior segment dysgenesis ⚠
p.Ile80Phe Single submitter ⚠
p.Leu125Pro Single submitter congenital primary aphakia ⚠
p.Leu147Pro Single submitter congenital primary aphakia ⚠
p.Leu172= Single submitter congenital primary aphakia
p.Leu216Met Single submitter Cardiovascular phenotype ⚠
p.Leu261= Single submitter anterior segment dysgenesis
p.Leu271Pro Single submitter congenital primary aphakia ⚠
p.Leu281= Single submitter anterior segment dysgenesis
p.Leu281Val Single submitter Cardiovascular phenotype ⚠
p.Leu286Phe Single submitter anterior segment dysgenesis ⚠
p.Leu296= Single submitter anterior segment dysgenesis
p.Leu306Val Single submitter Cardiovascular phenotype ⚠
p.Leu315Pro Single submitter Cardiovascular phenotype ⚠
p.Leu32Ile Single submitter Cardiovascular phenotype ⚠
p.Leu32Val Single submitter Cardiovascular phenotype ⚠
p.Leu67Gln Single submitter ⚠
p.Leu84= Single submitter congenital primary aphakia
p.Lys114Arg Single submitter anterior segment dysgenesis ⚠
p.Lys141Asn Single submitter aortic aneurysm, familial thoracic 11, susceptibility to ⚠
p.Lys71Glu Single submitter congenital primary aphakia ⚠
p.Met1fs Single submitter anterior segment dysgenesis
p.Met1Leu Single submitter congenital primary aphakia
p.Met1Val Single submitter congenital primary aphakia
p.Met82Arg Single submitter Cardiovascular phenotype ⚠
p.Met82Lys Single submitter congenital primary aphakia ⚠
p.Phe105Leu Single submitter anterior segment dysgenesis ⚠
p.Phe107= Single submitter anterior segment dysgenesis
p.Phe13Leu Single submitter congenital primary aphakia ⚠
p.Phe155Ser Single submitter congenital primary aphakia ⚠
p.Phe186Leu Single submitter Cardiovascular phenotype ⚠
p.Phe186Ser Single submitter anterior segment dysgenesis ⚠
p.Phe217Ser Single submitter anterior segment dysgenesis ⚠
p.Pro10Ser Single submitter Cardiovascular phenotype ⚠
p.Pro112Gln Single submitter anterior segment dysgenesis ⚠
p.Pro133His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
p.Pro180Ala Single submitter anterior segment dysgenesis ⚠
p.Pro180Arg Single submitter anterior segment dysgenesis ⚠
p.Pro182Arg Single submitter congenital primary aphakia ⚠
p.Pro182Gln Single submitter Cardiovascular phenotype ⚠
p.Pro183Gln Single submitter Cardiovascular phenotype ⚠
p.Pro183Leu Single submitter Cardiovascular phenotype ⚠
p.Pro185Thr Single submitter anterior segment dysgenesis ⚠
p.Pro190Leu Single submitter anterior segment dysgenesis ⚠
p.Pro190Ser Single submitter congenital primary aphakia