FOXL2 — 300 ClinVar variants
All ClinVar germline FOXL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 93 flagged for review →
108 Pathogenic · 6 Pathogenic/Likely pathogenic · 48 Likely pathogenic · 3 Conflicting · 12 Benign · 4 Benign/Likely benign · 23 Likely benign · 96 Uncertain significance
Full FOXL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 93
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
FOXL2 p.Pro281Thr
Likely pathogenic
Single submitter
blepharophimosis, ptosis, and epicanthus inversus syndrome
Predictors lean, ClinVar uncertain 76
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
FOXL2 p.Ala216Val
Uncertain significance
Multiple submitters
blepharophimosis, ptosis, and epicanthus inversus syndrome
-
FOXL2 p.Ala71Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOXL2 p.Arg103His
Uncertain significance
Multiple submitters
premature ovarian failure 3
-
FOXL2 p.Lys193Arg
Uncertain significance
Multiple submitters
blepharophimosis, ptosis, and epicanthus inversus syndrome
-
FOXL2 p.Met264Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOXL2 p.Pro212Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOXL2 p.Pro268Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOXL2 p.Ser78Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FOXL2 p.Ala14Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- FOXL2 p.Ala169Gly Uncertain significance Single submitter
-
FOXL2 p.Ala183Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXL2 p.Ala190Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXL2 p.Ala226Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXL2 p.Ala242Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXL2 p.Ala252Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXL2 p.Ala283Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXL2 p.Ala303Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- FOXL2 p.Ala303Val Uncertain significance Single submitter
-
FOXL2 p.Ala308Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXL2 p.Ala325Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXL2 p.Ala328Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXL2 p.Ala86Pro
Uncertain significance
Single submitter
blepharophimosis, ptosis, and epicanthus inversus syndrome
-
FOXL2 p.Arg103Leu
Uncertain significance
Single submitter
blepharophimosis, ptosis, and epicanthus inversus syndrome
-
FOXL2 p.Arg147Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXL2 p.Arg147Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXL2 p.Arg22Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXL2 p.Asp184Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXL2 p.Asp184Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- FOXL2 p.Gly125Asp Uncertain significance Single submitter
-
FOXL2 p.Gly13Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXL2 p.Gly237Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXL2 p.Gly269Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXL2 p.Gly29Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXL2 p.Gly313Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXL2 p.Gly37Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXL2 p.Gly38Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXL2 p.His312Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- FOXL2 p.Ile80Met Uncertain significance Single submitter
-
FOXL2 p.Leu130Gln
Uncertain significance
Single submitter
blepharophimosis, ptosis, and epicanthus inversus syndrome
-
FOXL2 p.Leu130Pro
Uncertain significance
Single submitter
blepharophimosis, ptosis, and epicanthus inversus syndrome
- FOXL2 p.Leu130Val Uncertain significance Single submitter
-
FOXL2 p.Leu277Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- FOXL2 p.Leu62Phe Uncertain significance Single submitter
- FOXL2 p.Leu75His Uncertain significance Single submitter
- FOXL2 p.Lys114Met Uncertain significance Single submitter
-
FOXL2 p.Met264Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXL2 p.Met356Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- FOXL2 p.Phe88Leu Uncertain significance Single submitter
-
FOXL2 p.Pro162Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXL2 p.Pro191Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXL2 p.Pro267Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXL2 p.Pro268Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- FOXL2 p.Pro280Arg Uncertain significance Single submitter
-
FOXL2 p.Pro281Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXL2 p.Pro290Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXL2 p.Pro318Gln
Uncertain significance
Single submitter
Duane retraction syndrome
- FOXL2 p.Pro319Arg Uncertain significance Single submitter
-
FOXL2 p.Pro332Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXL2 p.Pro332Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- FOXL2 p.Pro337Arg Uncertain significance Single submitter
- FOXL2 p.Pro51Ala Uncertain significance Single submitter
- FOXL2 p.Pro55Ser Uncertain significance Single submitter
-
FOXL2 p.Pro56Arg
Uncertain significance
Single submitter
blepharophimosis, ptosis, and epicanthus inversus syndrome
- FOXL2 p.Ser101Thr Uncertain significance Single submitter
-
FOXL2 p.Ser238Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXL2 p.Ser33Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXL2 p.Ser365Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXL2 p.Ser372Leu
Uncertain significance
Single submitter
FOXL2-related disorder
- FOXL2 p.Ser70Arg Uncertain significance Single submitter
-
FOXL2 p.Ser70Gly
Uncertain significance
Single submitter
blepharophimosis, ptosis, and epicanthus inversus syndrome
- FOXL2 p.Trp128Arg Uncertain significance Single submitter
-
FOXL2 p.Tyr143His
Uncertain significance
Single submitter
Inborn genetic diseases
- FOXL2 p.Tyr274Cys Uncertain significance Single submitter
- FOXL2 p.Val245Gly Uncertain significance Single submitter
-
FOXL2 p.Val270Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXL2 p.Gly240Cys
Uncertain significance
No assertion criteria
blepharophimosis, ptosis, and epicanthus inversus syndrome
Predictors split 16
The independent predictors disagree with each other — read with care.
-
FOXL2 p.Arg349Gly
Likely pathogenic
Multiple submitters
blepharophimosis, ptosis, and epicanthus inversus syndrome
-
FOXL2 p.Tyr215Cys
Pathogenic/Likely pathogenic
Multiple submitters
FOXL2-related disorder
-
FOXL2 p.Arg373Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- FOXL2 p.Cys218Gly Uncertain significance Single submitter
-
FOXL2 p.Gln219Leu
Uncertain significance
Single submitter
blepharophimosis, ptosis, and epicanthus inversus syndrome
- FOXL2 p.Gly187Arg Uncertain significance Single submitter
-
FOXL2 p.Gly187Asp
Conflicting
Single submitter
blepharophimosis, ptosis, and epicanthus inversus syndrome
- FOXL2 p.Ile113Met Uncertain significance Single submitter
- FOXL2 p.Met2Thr Uncertain significance Single submitter
-
FOXL2 p.Met356Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FOXL2 p.Phe167Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- FOXL2 p.Pro205Arg Benign Single submitter
- FOXL2 p.Pro257Arg Uncertain significance Single submitter
-
FOXL2 p.Tyr258Asn
Conflicting
Single submitter
blepharophimosis, ptosis, and epicanthus inversus syndrome
-
FOXL2 p.Gly185Arg
Likely pathogenic
No assertion criteria
Genetic non-acquired premature ovarian failure
-
FOXL2 p.Ser263Arg
Likely pathogenic
No assertion criteria
Genetic non-acquired premature ovarian failure
All FOXL2 variants
Pathogenic 108
- p.Ala225_Ala234dup Multiple submitters FOXL2-related disorders
- p.Ala234_Gly235insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla Multiple submitters FOXL2-related disorders
- p.Gln196Ter Multiple submitters blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Gln219Ter Multiple submitters FOXL2-related disorders
- p.Gly269fs Multiple submitters FOXL2-related disorders
- p.Leu75Phe Multiple submitters blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Pro317fs Multiple submitters blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Trp204Ter Multiple submitters blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Ala179fs Single submitter Inborn genetic diseases
- p.Ala183fs Single submitter
- p.Ala221fs Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Ala225_Leu376delinsTrpAlaGlyAspAlaGlyAlaProGluArgAspGluProSerArgLysArgAlaGluArgGlnLeuGlnAlaArgGlyValGlnGlyHisArgGlyGlnGlyGlyGluHisArgArgThr Single submitter
- p.Ala225fs Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Ala227fs Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Ala229fs Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Ala234delinsGluArgLeuGlnGlnLeuArgLeuGlnProPro Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Ala283fs Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Ala304fs Single submitter
- p.Ala328fs Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Ala66Glu Single submitter
- p.Arg117fs Single submitter
- p.Arg260fs Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Asn126_Gly235del Single submitter
- p.Cys218fs Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Gln321fs Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Gln53Ter Single submitter
- p.Gln99Ter Single submitter
- p.Glu139Ter Single submitter
- p.Glu69Ter Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Gly171fs Single submitter
- p.Gly250fs Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.His104Asn Single submitter
- p.His159fs Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.His298fs Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.His311fs Single submitter Inborn genetic diseases
- p.His312fs Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Ile113fs Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Ile84fs Single submitter
- p.Ile84Thr Single submitter
- p.Leu15fs Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Leu277fs Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Lys114Ter Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Lys124fs Single submitter
- p.Lys193fs Single submitter
- p.Lys93Ter Single submitter
- p.Lys95_Lys96delinsAsnTer Single submitter
- p.Lys95Ter Single submitter
- p.Phe345fs Single submitter
- p.Phe90Ser Single submitter
- p.Pro157fs Single submitter
- p.Pro18fs Single submitter FOXL2-related disorders
- p.Pro207fs Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Pro251fs Single submitter
- p.Pro257fs Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Pro284fs Single submitter
- p.Pro285fs Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Pro286fs Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Pro294fs Single submitter
- p.Pro305fs Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Pro307fs Single submitter FOXL2-related disorders
- p.Pro309fs Single submitter blepharophimosis
- p.Pro46fs Single submitter
- p.Pro51fs Single submitter
- p.Pro89fs Single submitter
- p.Ser203Ter Single submitter
- p.Ser211Ter Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Ser217Cys Single submitter FOXL2-related disorders
- p.Ser254Ter Single submitter
- p.Ser365fs Single submitter
- p.Ser58Ter Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Thr338fs Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Trp98Ter Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Tyr194Ter Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Tyr274Ter Single submitter premature ovarian failure 3
- p.Tyr57Ter Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Tyr59Ter Single submitter
- p.Tyr5Ter Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Tyr83Ter Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Tyr91Ter Single submitter
- p.Ala221[(15_24 No assertion criteria blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Ala224fs No assertion criteria blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Ala234_Gly235insAlaAlaAlaAlaAla No assertion criteria BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I
- p.Ala316fs No assertion criteria blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Ala330fs No assertion criteria premature ovarian failure 3
- p.Ala334fs No assertion criteria blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Asp184fs No assertion criteria blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Cys134fs No assertion criteria blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Cys176fs No assertion criteria blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Gln262Ter No assertion criteria blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Glu19Ter No assertion criteria blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Glu69Lys No assertion criteria BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II
- p.Glu7fs No assertion criteria blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Gly35fs No assertion criteria blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Gly368fs No assertion criteria blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.His291fs No assertion criteria Genetic non-acquired premature ovarian failure
- p.Ile84Ser No assertion criteria FOXL2-related disorder
- p.Leu130fs No assertion criteria blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Lys164Ter No assertion criteria blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Lys48_Ser58delinsAlaLeu No assertion criteria blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Lys54Glu No assertion criteria blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Pro156fs No assertion criteria premature ovarian failure 3
- p.Pro281fs No assertion criteria blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Thr329fs No assertion criteria blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Trp128Ter No assertion criteria blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Tyr127_Trp128insTer No assertion criteria blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Tyr127Ter No assertion criteria blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Tyr258fs No assertion criteria blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Tyr59fs No assertion criteria blepharophimosis, ptosis, and epicanthus inversus syndrome
Pathogenic/Likely pathogenic 6
- p.Asp131fs Multiple submitters FOXL2-related disorders
- p.Met65Val Multiple submitters blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Pro287fs Multiple submitters FOXL2-related disorders
- p.Ser217Phe Multiple submitters FOXL2-related disorders
- p.Thr259fs Multiple submitters blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Tyr215Cys Multiple submitters FOXL2-related disorder ⚠
Likely pathogenic 48
- p.Arg349Gly Multiple submitters blepharophimosis, ptosis, and epicanthus inversus syndrome ⚠
- p.Met65Ile Multiple submitters blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Ser107Gly Multiple submitters blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Ala14fs Single submitter
- p.Ala225_Ala234del Single submitter premature ovarian failure 3
- p.Ala234_Gly235insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Ala315fs Single submitter
- p.Ala66fs Single submitter FOXL2-related disorders
- p.Arg154fs Single submitter
- p.Asn275fs Single submitter
- p.Gln208Ter Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Glu118_Arg123del Single submitter
- p.Glu72Ter Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.His104Arg Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.His104Tyr Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Ile63Leu Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Leu106Phe Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Leu77Pro Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Lys114Glu Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Lys124Glu Single submitter
- p.Met149_Lys150delinsIleTer Single submitter FOXL2-related disorders
- p.Phe112Cys Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Phe199fs Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Phe90Leu Single submitter
- p.Pro281Thr Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome ⚠
- p.Pro292fs Single submitter FOXL2-related disorders
- p.Pro310fs Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Pro318fs Single submitter
- p.Pro341fs Single submitter
- p.Ser101Arg Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Ser273Ter Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Ser4fs Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Ser58Leu Single submitter FOXL2-related disorders
- p.Trp128Gly Single submitter FOXL2-related disorders
- p.Trp98Arg Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Tyr186fs Single submitter
- p.Val60_Ala64dup Single submitter FOXL2-related disorders
- p.Asn100Asp No assertion criteria blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Gly185Arg No assertion criteria Genetic non-acquired premature ovarian failure ⚠
- p.Ile113del No assertion criteria blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Ile63Asn No assertion criteria blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Phe88Ile No assertion criteria blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Pro89Arg No assertion criteria blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Pro89Gln No assertion criteria blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Ser263Arg No assertion criteria Genetic non-acquired premature ovarian failure ⚠
- p.Ser58Trp No assertion criteria blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Tyr57Asn No assertion criteria blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Tyr59Asp No assertion criteria blepharophimosis, ptosis, and epicanthus inversus syndrome
Conflicting classifications of pathogenicity 3
- p.Ala234del Single submitter premature ovarian failure 3
- p.Gly187Asp Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome ⚠
- p.Tyr258Asn Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome ⚠
Benign 12
- c.-251G>A Multiple submitters
- p.Ala179Gly Multiple submitters blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Phe167= Multiple submitters blepharophimosis, ptosis, and epicanthus inversus syndrome
- c.*925dup Single submitter
- p.Gln196= Single submitter
- p.Gly240= Single submitter
- p.Pro205Arg Single submitter ⚠
- p.Pro236= Single submitter
- p.Pro286= Single submitter
- p.Ser217= Single submitter
- p.Ser254= Single submitter
- p.Ala221_Ala234= No assertion criteria blepharophimosis, ptosis, and epicanthus inversus syndrome
Benign/Likely benign 4
Likely benign 23
- p.Ala314= Multiple submitters
- p.Pro351= Multiple submitters
- c.-7C>T Single submitter
- p.Ala17= Single submitter
- p.Ala225= Single submitter
- p.Ala226_Ala234del Single submitter
- p.Ala303= Single submitter
- p.Gly175= Single submitter
- p.Gly43= Single submitter
- p.Leu343= Single submitter
- p.Lys36= Single submitter
- p.Pro210= Single submitter
- p.Pro267Thr Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Pro280= Single submitter
- p.Pro292= Single submitter
- p.Pro319= Single submitter
- p.Pro46= Single submitter
- p.Ser273= Single submitter
- c.*614C>T No assertion criteria FOXL2-related disorder
- p.Ala11= No assertion criteria FOXL2-related disorder
- p.Asp184= No assertion criteria FOXL2-related disorder
- p.Pro212= No assertion criteria FOXL2-related disorder
- p.Ser78= No assertion criteria FOXL2-related disorder
Uncertain significance 96
- p.Ala216Val Multiple submitters blepharophimosis, ptosis, and epicanthus inversus syndrome ⚠
- p.Ala71Pro Multiple submitters Inborn genetic diseases ⚠
- p.Arg103His Multiple submitters premature ovarian failure 3 ⚠
- p.Lys193Arg Multiple submitters blepharophimosis, ptosis, and epicanthus inversus syndrome ⚠
- p.Met264Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro212Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro268Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser78Tyr Multiple submitters Inborn genetic diseases ⚠
- c.-10C>G Single submitter
- p.Ala14Pro Single submitter Inborn genetic diseases ⚠
- p.Ala169Gly Single submitter ⚠
- p.Ala183Thr Single submitter Inborn genetic diseases ⚠
- p.Ala190Thr Single submitter Inborn genetic diseases ⚠
- p.Ala226Val Single submitter Inborn genetic diseases ⚠
- p.Ala242Thr Single submitter Inborn genetic diseases ⚠
- p.Ala252Thr Single submitter Inborn genetic diseases ⚠
- p.Ala283Val Single submitter Inborn genetic diseases ⚠
- p.Ala303Gly Single submitter Inborn genetic diseases ⚠
- p.Ala303Val Single submitter ⚠
- p.Ala308Gly Single submitter Inborn genetic diseases ⚠
- p.Ala325Gly Single submitter Inborn genetic diseases ⚠
- p.Ala328Gly Single submitter Inborn genetic diseases ⚠
- p.Ala86Pro Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome ⚠
- p.Arg103Leu Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome ⚠
- p.Arg147Cys Single submitter Inborn genetic diseases ⚠
- p.Arg147Gly Single submitter Inborn genetic diseases ⚠
- p.Arg22Leu Single submitter Inborn genetic diseases ⚠
- p.Arg373Cys Single submitter Inborn genetic diseases ⚠
- p.Asn105_Leu106del Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Asn105del Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Asp184Ala Single submitter Inborn genetic diseases ⚠
- p.Asp184Glu Single submitter Inborn genetic diseases ⚠
- p.Cys218Gly Single submitter ⚠
- p.Gln219Leu Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome ⚠
- p.Gln53Lys Single submitter Inborn genetic diseases
- p.Gly125Asp Single submitter ⚠
- p.Gly13Ala Single submitter Inborn genetic diseases ⚠
- p.Gly187Arg Single submitter ⚠
- p.Gly21= Single submitter
- p.Gly237Ser Single submitter Inborn genetic diseases ⚠
- p.Gly269Ser Single submitter Inborn genetic diseases ⚠
- p.Gly29Glu Single submitter Inborn genetic diseases ⚠
- p.Gly313Arg Single submitter Inborn genetic diseases ⚠
- p.Gly37Asp Single submitter Inborn genetic diseases ⚠
- p.Gly38Ala Single submitter Inborn genetic diseases ⚠
- p.His312Asn Single submitter Inborn genetic diseases ⚠
- p.Ile113Met Single submitter ⚠
- p.Ile80Met Single submitter ⚠
- p.Leu108_Cys111del Single submitter
- p.Leu130Gln Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome ⚠
- p.Leu130Pro Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome ⚠
- p.Leu130Val Single submitter ⚠
- p.Leu277Pro Single submitter Inborn genetic diseases ⚠
- p.Leu62_Ala66dup Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome
- p.Leu62Phe Single submitter ⚠
- p.Leu75His Single submitter ⚠
- p.Lys114Met Single submitter ⚠
- p.Met1Ile Single submitter
- p.Met264Val Single submitter Inborn genetic diseases ⚠
- p.Met2Thr Single submitter ⚠
- p.Met356Leu Single submitter Inborn genetic diseases ⚠
- p.Met356Thr Single submitter Inborn genetic diseases ⚠
- p.Phe167Ser Single submitter Inborn genetic diseases ⚠
- p.Phe88Leu Single submitter ⚠
- p.Pro162Thr Single submitter Inborn genetic diseases ⚠
- p.Pro191Ser Single submitter Inborn genetic diseases ⚠
- p.Pro257Arg Single submitter ⚠
- p.Pro267Ala Single submitter Inborn genetic diseases ⚠
- p.Pro268Leu Single submitter Inborn genetic diseases ⚠
- p.Pro280Arg Single submitter ⚠
- p.Pro281Leu Single submitter Inborn genetic diseases ⚠
- p.Pro287= Single submitter
- p.Pro290Thr Single submitter Inborn genetic diseases ⚠
- p.Pro318Gln Single submitter Duane retraction syndrome ⚠
- p.Pro319Arg Single submitter ⚠
- p.Pro332Ala Single submitter Inborn genetic diseases ⚠
- p.Pro332Leu Single submitter Inborn genetic diseases ⚠
- p.Pro333_Pro337del Single submitter
- p.Pro337Arg Single submitter ⚠
- p.Pro51Ala Single submitter ⚠
- p.Pro55Ser Single submitter ⚠
- p.Pro56Arg Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome ⚠
- p.Ser101Thr Single submitter ⚠
- p.Ser238Asn Single submitter Inborn genetic diseases ⚠
- p.Ser33Arg Single submitter Inborn genetic diseases ⚠
- p.Ser365Gly Single submitter Inborn genetic diseases ⚠
- p.Ser372Leu Single submitter FOXL2-related disorder ⚠
- p.Ser70Arg Single submitter ⚠
- p.Ser70Gly Single submitter blepharophimosis, ptosis, and epicanthus inversus syndrome ⚠
- p.Thr329= Single submitter
- p.Trp128Arg Single submitter ⚠
- p.Tyr143His Single submitter Inborn genetic diseases ⚠
- p.Tyr274Cys Single submitter ⚠
- p.Val245Gly Single submitter ⚠
- p.Val270Leu Single submitter Inborn genetic diseases ⚠
- p.Gly240Cys No assertion criteria blepharophimosis, ptosis, and epicanthus inversus syndrome ⚠