CYP1B1 — 551 ClinVar variants
All ClinVar germline CYP1B1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 157 flagged for review →
50 Pathogenic · 17 Pathogenic/Likely pathogenic · 50 Likely pathogenic · 26 Conflicting · 21 Benign · 3 Benign/Likely benign · 184 Likely benign · 200 Uncertain significance
Full CYP1B1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 157
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 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
CYP1B1 p.Arg368Cys
Likely pathogenic
Expert panel
CYP1B1-related glaucoma with or without anterior segment dysgenesis
-
CYP1B1 p.Asn203Ser
Likely pathogenic
Single submitter
glaucoma 3A
Predictors agree, ClinVar conflicts 11
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CYP1B1 p.Ala287Thr
Conflicting
Single submitter
glaucoma 3A
-
CYP1B1 p.Arg117Gln
Conflicting
Single submitter
glaucoma 3A
-
CYP1B1 p.Arg469Gln
Conflicting
Single submitter
CYP1B1-related disorder
-
CYP1B1 p.Asn519Ser
Conflicting
Single submitter
congenital glaucoma
-
CYP1B1 p.Asp218Val
Conflicting
Single submitter
congenital glaucoma
-
CYP1B1 p.Gly232Arg
Conflicting
Single submitter
primary congenital glaucoma
-
CYP1B1 p.Gly61Arg
Conflicting
Single submitter
anterior segment dysgenesis 6
-
CYP1B1 p.Ile471Asn
Conflicting
Single submitter
congenital glaucoma
-
CYP1B1 p.Leu345Phe
Conflicting
Single submitter
glaucoma 3A
-
CYP1B1 p.Leu378Gln
Conflicting
Single submitter
congenital glaucoma
-
CYP1B1 p.Val198Ile
Conflicting
Single submitter
glaucoma 3A
Predictors lean, ClinVar uncertain 96
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CYP1B1 p.Arg368Leu
Uncertain significance
Expert panel
CYP1B1-related glaucoma with or without anterior segment dysgenesis
-
CYP1B1 p.Gln144Arg
Uncertain significance
Expert panel
CYP1B1-related glaucoma with or without anterior segment dysgenesis
-
CYP1B1 p.Gly168Asp
Uncertain significance
Expert panel
CYP1B1-related glaucoma with or without anterior segment dysgenesis
-
CYP1B1 p.Met292Lys
Uncertain significance
Expert panel
CYP1B1-related glaucoma with or without anterior segment dysgenesis
-
CYP1B1 p.Trp57Cys
Uncertain significance
Expert panel
CYP1B1-related glaucoma with or without anterior segment dysgenesis
-
CYP1B1 p.Arg124His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP1B1 p.Arg80Pro
Uncertain significance
Multiple submitters
congenital glaucoma
-
CYP1B1 p.Asp430Glu
Uncertain significance
Multiple submitters
glaucoma 3A
-
CYP1B1 p.Leu273Arg
Uncertain significance
Multiple submitters
congenital glaucoma
-
CYP1B1 p.Lys303Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP1B1 p.Met244Ile
Uncertain significance
Multiple submitters
congenital glaucoma
-
CYP1B1 p.Met478Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CYP1B1 p.Ala115Pro Uncertain significance Single submitter
-
CYP1B1 p.Ala133Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Ala147Pro
Uncertain significance
Single submitter
congenital glaucoma
- CYP1B1 p.Ala288Pro Uncertain significance Single submitter
- CYP1B1 p.Ala288Val Uncertain significance Single submitter
-
CYP1B1 p.Ala304Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Ala31Asp
Uncertain significance
Single submitter
anterior segment dysgenesis 6
-
CYP1B1 p.Ala358Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Ala402Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Ala501Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP1B1 p.Ala50Val Uncertain significance Single submitter
- CYP1B1 p.Ala63Pro Uncertain significance Single submitter
-
CYP1B1 p.Ala78Glu
Uncertain significance
Single submitter
congenital glaucoma
- CYP1B1 p.Arg175Pro Uncertain significance Single submitter
-
CYP1B1 p.Arg222Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Arg233Pro
Uncertain significance
Single submitter
CYP1B1-related disorder
-
CYP1B1 p.Arg259His
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP1B1 p.Arg41Thr Uncertain significance Single submitter
-
CYP1B1 p.Arg76His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Arg76Ser
Uncertain significance
Single submitter
Peters anomaly
-
CYP1B1 p.Asn270Ser
Uncertain significance
Single submitter
Peters anomaly
-
CYP1B1 p.Asn377Ser
Uncertain significance
Single submitter
congenital glaucoma
-
CYP1B1 p.Asn428Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Asn436His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Asn439Lys
Uncertain significance
Single submitter
congenital glaucoma
-
CYP1B1 p.Asn519Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP1B1 p.Asp187Glu Uncertain significance Single submitter
-
CYP1B1 p.Asp361His
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP1B1 p.Asp441Gly Uncertain significance Single submitter
-
CYP1B1 p.Asp449Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Asp455Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Asp492Asn
Uncertain significance
Single submitter
Peters anomaly
-
CYP1B1 p.Asp530Glu
Uncertain significance
Single submitter
congenital glaucoma
-
CYP1B1 p.Gln159His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Gln20Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Gln248Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Gln534Lys
Uncertain significance
Single submitter
congenital glaucoma
- CYP1B1 p.Glu139Lys Uncertain significance Single submitter
-
CYP1B1 p.Glu167Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Glu301Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Glu474Ala
Uncertain significance
Single submitter
congenital glaucoma
-
CYP1B1 p.Gly365Arg
Uncertain significance
Single submitter
glaucoma 3A
-
CYP1B1 p.His149Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Ile103Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP1B1 p.Ile399Val Uncertain significance Single submitter
-
CYP1B1 p.Ile87Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP1B1 p.Leu24Arg Uncertain significance Single submitter
-
CYP1B1 p.Leu283Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP1B1 p.Leu298His Uncertain significance Single submitter
-
CYP1B1 p.Leu335Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Leu343Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Leu385Arg
Uncertain significance
Single submitter
glaucoma 3A
-
CYP1B1 p.Leu72Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Lys142Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Lys477Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP1B1 p.Met292Ile Uncertain significance Single submitter
-
CYP1B1 p.Phe440Cys
Uncertain significance
Single submitter
Peters anomaly
- CYP1B1 p.Pro118Ser Uncertain significance Single submitter
-
CYP1B1 p.Pro15Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Pro245Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Pro285Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Pro321Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Pro321Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP1B1 p.Pro437Arg Uncertain significance Single submitter
-
CYP1B1 p.Pro54Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Pro7Arg
Uncertain significance
Single submitter
congenital glaucoma
-
CYP1B1 p.Ser215Thr
Uncertain significance
Single submitter
Peters anomaly
-
CYP1B1 p.Ser458Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Ser485Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Ser531Arg
Uncertain significance
Single submitter
Peters anomaly
-
CYP1B1 p.Ser531Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP1B1 p.Ser6Gly Uncertain significance Single submitter
-
CYP1B1 p.Thr323Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Thr337Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Thr354Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Thr3Asn
Uncertain significance
Single submitter
Peters anomaly
-
CYP1B1 p.Thr418Ile
Uncertain significance
Single submitter
congenital glaucoma
- CYP1B1 p.Trp11Arg Uncertain significance Single submitter
-
CYP1B1 p.Trp246Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP1B1 p.Tyr214Asn Uncertain significance Single submitter
-
CYP1B1 p.Val170Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Val199Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Val84Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP1B1 p.Val95Ala Uncertain significance Single submitter
Predictors split 48
The independent predictors disagree with each other — read with care.
-
CYP1B1 p.Ala237Glu
Likely pathogenic
Expert panel
CYP1B1-related glaucoma with or without anterior segment dysgenesis
-
CYP1B1 p.Arg368His
Uncertain significance
Expert panel
CYP1B1-related glaucoma with or without anterior segment dysgenesis
-
CYP1B1 p.Gly329Ser
Uncertain significance
Expert panel
CYP1B1-related glaucoma with or without anterior segment dysgenesis
-
CYP1B1 p.Pro400Ser
Likely pathogenic
Expert panel
CYP1B1-related glaucoma with or without anterior segment dysgenesis
-
CYP1B1 p.Pro52Leu
Uncertain significance
Expert panel
CYP1B1-related glaucoma with or without anterior segment dysgenesis
-
CYP1B1 p.Arg163Cys
Uncertain significance
Multiple submitters
congenital glaucoma
-
CYP1B1 p.Arg284Trp
Uncertain significance
Multiple submitters
Peters anomaly
-
CYP1B1 p.Arg43Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP1B1 p.Asp291Gly
Pathogenic/Likely pathogenic
Multiple submitters
anterior segment dysgenesis 6
-
CYP1B1 p.Asp316Val
Uncertain significance
Multiple submitters
congenital glaucoma
-
CYP1B1 p.Pro93Ser
Uncertain significance
Multiple submitters
Peters anomaly
- CYP1B1 p.Ala295Thr Uncertain significance Single submitter
- CYP1B1 p.Asp192Asn Uncertain significance Single submitter
-
CYP1B1 p.Asp441His
Uncertain significance
Single submitter
congenital glaucoma
-
CYP1B1 p.Gly238Cys
Uncertain significance
Single submitter
Peters anomaly
-
CYP1B1 p.Gly306Glu
Conflicting
Single submitter
congenital glaucoma
-
CYP1B1 p.Gly329Val
Likely pathogenic
Single submitter
CYP1B1-related disorder
-
CYP1B1 p.Gly411Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP1B1 p.Ile471Phe Uncertain significance Single submitter
-
CYP1B1 p.Ile471Ser
Likely pathogenic
Single submitter
primary congenital glaucoma
- CYP1B1 p.Ile471Thr Uncertain significance Single submitter
-
CYP1B1 p.Leu107Val
Conflicting
Single submitter
Peters anomaly
-
CYP1B1 p.Leu191Arg
Conflicting
Single submitter
congenital glaucoma
-
CYP1B1 p.Leu89Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Lys416Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP1B1 p.Lys467Asn Uncertain significance Single submitter
- CYP1B1 p.Met244Thr Uncertain significance Single submitter
-
CYP1B1 p.Phe114Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP1B1 p.Phe123Leu Uncertain significance Single submitter
- CYP1B1 p.Phe190Leu Uncertain significance Single submitter
-
CYP1B1 p.Phe261Leu
Likely pathogenic
Single submitter
congenital glaucoma
-
CYP1B1 p.Phe276Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Phe346Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Phe55Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Phe74Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Pro193Leu
Conflicting
Single submitter
glaucoma 3, primary infantile, B
- CYP1B1 p.Pro350Ala Uncertain significance Single submitter
- CYP1B1 p.Pro437Ala Uncertain significance Single submitter
-
CYP1B1 p.Ser17Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Ser239Arg
Likely pathogenic
Single submitter
anterior segment dysgenesis
-
CYP1B1 p.Ser308Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Thr234Met
Conflicting
Single submitter
congenital glaucoma
-
CYP1B1 p.Thr32Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Thr418Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP1B1 p.Tyr380Cys
Conflicting
Single submitter
anterior segment dysgenesis 6
- CYP1B1 p.Val178Glu Uncertain significance Single submitter
-
CYP1B1 p.Val241Glu
Likely pathogenic
Single submitter
glaucoma 3A
- CYP1B1 p.Ser215Ile Uncertain significance No assertion criteria
All CYP1B1 variants
Pathogenic 50
- c.1044-1G>C Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- c.1044-2A>G Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Ala106Asp Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Ala179fs Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Arg145fs Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Arg355fs Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Arg355Ter Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Arg390Cys Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Arg390His Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Arg390Ser Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Arg444Gln Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Arg469Trp Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Arg523Thr Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Glu173Ter Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Glu262Ter Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Glu387Lys Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Gly61Glu Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Met1Thr Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Pro437Leu Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Ser269_Phe271del Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Ser485Phe Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Thr404fs Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Val364Met Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Arg290fs Multiple submitters congenital glaucoma
- p.Arg444Ter Multiple submitters congenital glaucoma
- p.Arg468_Ser476dup Multiple submitters congenital glaucoma
- p.Gln19Ter Multiple submitters anterior segment dysgenesis 6
- p.Glu173Lys Multiple submitters congenital glaucoma
- p.Thr325fs Multiple submitters glaucoma 3A
- p.Tyr81Ter Multiple submitters congenital glaucoma
- p.Arg117Leu Single submitter congenital glaucoma
- p.Arg80_Tyr81insTer Single submitter congenital glaucoma
- p.Cys209Arg Single submitter congenital glaucoma
- p.Gln109Ter Single submitter congenital glaucoma
- p.Gln353Ter Single submitter congenital glaucoma
- p.Gln362Ter Single submitter
- p.His279fs Single submitter congenital glaucoma
- p.Lys467_Cys470del Single submitter congenital glaucoma
- p.Met1Arg Single submitter congenital glaucoma
- p.Met293delinsThrTer Single submitter congenital glaucoma
- p.Phe328_Ala330del Single submitter congenital glaucoma
- p.Ser28Ter Single submitter glaucoma 3A
- p.Ser299fs Single submitter
- p.Ser476fs Single submitter congenital glaucoma
- p.Ser73fs Single submitter congenital glaucoma
- p.Trp434Ter Single submitter congenital glaucoma
- c.1044-3C>G No assertion criteria glaucoma 3A
- p.Leu487Pro No assertion criteria glaucoma 3A
- p.Pro58_Leu59insTer No assertion criteria Glaucoma, primary open angle, juvenile-onset
- p.Ser4fs No assertion criteria glaucoma 3A
Pathogenic/Likely pathogenic 17
- p.Arg459fs Multiple submitters anterior segment dysgenesis 6
- p.Asp116_Ala121del Multiple submitters congenital glaucoma
- p.Asp192Val Multiple submitters congenital glaucoma
- p.Asp291Gly Multiple submitters anterior segment dysgenesis 6 ⚠
- p.Asp449fs Multiple submitters congenital glaucoma
- p.Cys280Ter Multiple submitters anterior segment dysgenesis 6
- p.Glu359Ter Multiple submitters anterior segment dysgenesis 6
- p.Met1Ile Multiple submitters primary congenital glaucoma
- p.Met1Val Multiple submitters primary congenital glaucoma
- p.Phe276_Leu277insTer Multiple submitters glaucoma 3, primary infantile, B
- p.Phe445Ile Multiple submitters glaucoma 3A
- p.Pro93fs Multiple submitters anterior segment dysgenesis 6
- p.Ser408fs Multiple submitters congenital glaucoma
- p.Ser464fs Multiple submitters anterior segment dysgenesis 6
- p.Ser73Ter Multiple submitters congenital glaucoma
- p.Trp341Ter Multiple submitters congenital glaucoma
- p.Val381fs Multiple submitters anterior segment dysgenesis 6
Likely pathogenic 50
- p.Ala237Glu Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis ⚠
- p.Ala330Phe Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Arg117Pro Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Arg117Trp Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Arg368Cys Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis ⚠
- p.Asp374Asn Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Cys470Tyr Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Gly365Trp Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Leu345del Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Pro400Ser Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis ⚠
- p.Pro513_Lys514del Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Ala287fs Multiple submitters CYP1B1-related disorder
- p.Asn423Tyr Multiple submitters congenital glaucoma
- p.Asp367fs Multiple submitters glaucoma 3A
- p.Leu385Phe Multiple submitters congenital glaucoma
- c.1043_1043+5delinsC Single submitter anterior segment dysgenesis 6
- c.1043+2_1043+6del Single submitter congenital glaucoma
- p.Ala313fs Single submitter anterior segment dysgenesis 6
- p.Ala383Thr Single submitter anterior segment dysgenesis 6
- p.Arg222fs Single submitter anterior segment dysgenesis 6
- p.Arg355Pro Single submitter glaucoma 3A
- p.Arg368Ile Single submitter
- p.Asn203Ser Single submitter glaucoma 3A ⚠
- p.Asn265fs Single submitter anterior segment dysgenesis 6
- p.Asp374fs Single submitter anterior segment dysgenesis 6
- p.Cys371fs Single submitter anterior segment dysgenesis 6
- p.Gln164Ter Single submitter anterior segment dysgenesis 6
- p.Gln20Ter Single submitter anterior segment dysgenesis 6
- p.Gln332Ter Single submitter anterior segment dysgenesis 6
- p.Gln86Ter Single submitter anterior segment dysgenesis 6
- p.Glu173delinsGlyAlaThrCysTer Single submitter anterior segment dysgenesis 6
- p.Glu223fs Single submitter anterior segment dysgenesis 6
- p.Gly329Val Single submitter CYP1B1-related disorder ⚠
- p.Gly53fs Single submitter anterior segment dysgenesis 6
- p.Gly61fs Single submitter CYP1B1-related disorder
- p.Gly61Ter Single submitter
- p.Gly99fs Single submitter anterior segment dysgenesis 6
- p.His216fs Single submitter anterior segment dysgenesis 6
- p.Ile471Ser Single submitter primary congenital glaucoma ⚠
- p.Ile484fs Single submitter glaucoma 3A
- p.Leu77Pro Single submitter CYP1B1-related disorder
- p.Met132Arg Single submitter anterior segment dysgenesis 6
- p.Phe261Leu Single submitter congenital glaucoma ⚠
- p.Phe384fs Single submitter
- p.Pro118Arg Single submitter primary congenital glaucoma
- p.Ser239Arg Single submitter anterior segment dysgenesis ⚠
- p.Trp57Ter Single submitter anterior segment dysgenesis 6
- p.Val241Glu Single submitter glaucoma 3A ⚠
- p.Asp326fs No assertion criteria glaucoma 3A
- p.Asp361Tyr No assertion criteria glaucoma 3A
Conflicting classifications of pathogenicity 26
- p.Ala237= Single submitter congenital glaucoma
- p.Ala287Thr Single submitter glaucoma 3A ⚠
- p.Arg117Gln Single submitter glaucoma 3A ⚠
- p.Arg469Gln Single submitter CYP1B1-related disorder ⚠
- p.Asn519Ser Single submitter congenital glaucoma ⚠
- p.Asp218Val Single submitter congenital glaucoma ⚠
- p.Asp530= Single submitter Peters anomaly
- p.Gly232Arg Single submitter primary congenital glaucoma ⚠
- p.Gly306= Single submitter Peters anomaly
- p.Gly306Glu Single submitter congenital glaucoma ⚠
- p.Gly61Arg Single submitter anterior segment dysgenesis 6 ⚠
- p.Ile471Asn Single submitter congenital glaucoma ⚠
- p.Leu107Val Single submitter Peters anomaly ⚠
- p.Leu191Arg Single submitter congenital glaucoma ⚠
- p.Leu345Phe Single submitter glaucoma 3A ⚠
- p.Leu360= Single submitter congenital glaucoma
- p.Leu378Gln Single submitter congenital glaucoma ⚠
- p.Leu47= Single submitter congenital glaucoma
- p.Pro15= Single submitter congenital glaucoma
- p.Pro193Leu Single submitter glaucoma 3, primary infantile, B ⚠
- p.Thr234Met Single submitter congenital glaucoma ⚠
- p.Tyr349= Single submitter congenital glaucoma
- p.Tyr380Cys Single submitter anterior segment dysgenesis 6 ⚠
- p.Val198Ile Single submitter glaucoma 3A ⚠
- p.Val320Leu Single submitter congenital glaucoma
- p.Val363= Single submitter Inborn genetic diseases
Benign 21
- c.-1-12C>T Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Ala119Ser Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Asn453Ser Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Asp449= Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Glu229Lys Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Leu432Val Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Val243= Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- c.-2+129G>A Multiple submitters
- c.*1871C>T Multiple submitters glaucoma 3A
- c.*2409A>T Multiple submitters glaucoma 3A
- c.*350C>A Multiple submitters Peters anomaly
- c.*695G>T Multiple submitters Peters anomaly
- c.*975A>G Multiple submitters Peters anomaly
- p.Gly188= Multiple submitters congenital glaucoma
- c.1044-147dup Single submitter
- c.-14C>T Single submitter
- c.-175C>T Single submitter
- c.-338G>T Single submitter congenital glaucoma
- c.-97dup Single submitter
- c.*210dup Single submitter
- p.Ala501= Single submitter congenital glaucoma
Benign/Likely benign 3
- c.-1-14C>T Multiple submitters Peters anomaly
- p.Leu432= Multiple submitters congenital glaucoma
- p.Val198= Multiple submitters congenital glaucoma
Likely benign 184
- p.Ala443Gly Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Pro12Leu Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Ser464= Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- p.Tyr81Asn Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- c.*1853G>T Multiple submitters Peters anomaly
- c.*2371T>C Multiple submitters glaucoma 3A
- p.Lys433= Multiple submitters congenital glaucoma
- c.1043+16G>T Single submitter congenital glaucoma
- c.1043+18C>G Single submitter congenital glaucoma
- c.1043+275C>T Single submitter
- c.1043+7C>A Single submitter congenital glaucoma
- c.1043+8C>A Single submitter congenital glaucoma
- c.1044-11A>C Single submitter congenital glaucoma
- c.1044-16A>T Single submitter congenital glaucoma
- c.1044-19C>T Single submitter congenital glaucoma
- c.1044-27TC[3] Single submitter congenital glaucoma
- c.1044-8C>T Single submitter congenital glaucoma
- c.-286C>T Single submitter
- c.*2158T>C Single submitter glaucoma 3A
- c.*2261A>C Single submitter glaucoma 3A
- c.*926A>C Single submitter Peters anomaly
- p.Ala102= Single submitter congenital glaucoma
- p.Ala115= Single submitter congenital glaucoma
- p.Ala147= Single submitter
- p.Ala174= Single submitter congenital glaucoma
- p.Ala200= Single submitter congenital glaucoma
- p.Ala288= Single submitter congenital glaucoma
- p.Ala300= Single submitter congenital glaucoma
- p.Ala305= Single submitter congenital glaucoma
- p.Ala313= Single submitter congenital glaucoma
- p.Ala383= Single submitter congenital glaucoma
- p.Ala488= Single submitter congenital glaucoma
- p.Ala50= Single submitter congenital glaucoma
- p.Ala538= Single submitter congenital glaucoma
- p.Ala56= Single submitter congenital glaucoma
- p.Ala63= Single submitter congenital glaucoma
- p.Ala64= Single submitter congenital glaucoma
- p.Ala65= Single submitter congenital glaucoma
- p.Ala69= Single submitter congenital glaucoma
- p.Arg145= Single submitter congenital glaucoma
- p.Arg146= Single submitter congenital glaucoma
- p.Arg153= Single submitter congenital glaucoma
- p.Arg158= Single submitter congenital glaucoma
- p.Arg278= Single submitter congenital glaucoma
- p.Arg390= Single submitter congenital glaucoma
- p.Arg43= Single submitter congenital glaucoma
- p.Arg45= Single submitter congenital glaucoma
- p.Arg459= Single submitter congenital glaucoma
- p.Arg48= Single submitter congenital glaucoma
- p.Arg48Gly Single submitter congenital glaucoma
- p.Arg494= Single submitter congenital glaucoma
- p.Arg523= Single submitter congenital glaucoma
- p.Arg80= Single submitter congenital glaucoma
- p.Asn14= Single submitter congenital glaucoma
- p.Asn154= Single submitter congenital glaucoma
- p.Asn228= Single submitter congenital glaucoma
- p.Asn436= Single submitter congenital glaucoma
- p.Asn439Asp Single submitter Inborn genetic diseases
- p.Asn519= Single submitter congenital glaucoma
- p.Asn62= Single submitter congenital glaucoma
- p.Asn98= Single submitter congenital glaucoma
- p.Asp242= Single submitter congenital glaucoma
- p.Asp294= Single submitter congenital glaucoma
- p.Asp351= Single submitter congenital glaucoma
- p.Cys280= Single submitter congenital glaucoma
- p.Cys371= Single submitter congenital glaucoma
- p.Cys491= Single submitter congenital glaucoma
- p.Gln159= Single submitter congenital glaucoma
- p.Gln164= Single submitter
- p.Gln353= Single submitter congenital glaucoma
- p.Gln490= Single submitter congenital glaucoma
- p.Glu100= Single submitter congenital glaucoma
- p.Glu167= Single submitter congenital glaucoma
- p.Glu173= Single submitter congenital glaucoma
- p.Glu220= Single submitter congenital glaucoma
- p.Glu438= Single submitter
- p.Glu499= Single submitter congenital glaucoma
- p.Gly111= Single submitter congenital glaucoma
- p.Gly2= Single submitter congenital glaucoma
- p.Gly232= Single submitter congenital glaucoma
- p.Gly236= Single submitter congenital glaucoma
- p.Gly238= Single submitter congenital glaucoma
- p.Gly286= Single submitter congenital glaucoma
- p.Gly311= Single submitter congenital glaucoma
- p.Gly329= Single submitter congenital glaucoma
- p.Gly472= Single submitter congenital glaucoma
- p.Gly508= Single submitter congenital glaucoma
- p.Gly53= Single submitter congenital glaucoma
- p.Gly61= Single submitter congenital glaucoma
- p.Gly67= Single submitter congenital glaucoma
- p.Gly82= Single submitter congenital glaucoma
- p.Gly99= Single submitter congenital glaucoma
- p.His104= Single submitter congenital glaucoma
- p.His169= Single submitter congenital glaucoma
- p.His227= Single submitter congenital glaucoma
- p.His413= Single submitter congenital glaucoma
- p.Ile60= Single submitter congenital glaucoma
- p.Ile87= Single submitter congenital glaucoma
- p.Leu107= Single submitter congenital glaucoma
- p.Leu16= Single submitter congenital glaucoma
- p.Leu166= Single submitter congenital glaucoma
- p.Leu171= Single submitter congenital glaucoma
- p.Leu177= Single submitter congenital glaucoma
- p.Leu180= Single submitter congenital glaucoma
- p.Leu181= Single submitter congenital glaucoma
- p.Leu191= Single submitter congenital glaucoma
- p.Leu196= Single submitter congenital glaucoma
- p.Leu224= Single submitter congenital glaucoma
- p.Leu23= Single submitter congenital glaucoma
- p.Leu240= Single submitter congenital glaucoma
- p.Leu26= Single submitter congenital glaucoma
- p.Leu264= Single submitter congenital glaucoma
- p.Leu27= Single submitter congenital glaucoma
- p.Leu315= Single submitter congenital glaucoma
- p.Leu339= Single submitter congenital glaucoma
- p.Leu343= Single submitter congenital glaucoma
- p.Leu40= Single submitter congenital glaucoma
- p.Leu446= Single submitter congenital glaucoma
- p.Leu451= Single submitter congenital glaucoma
- p.Leu482= Single submitter congenital glaucoma
- p.Leu487= Single submitter congenital glaucoma
- p.Leu59= Single submitter congenital glaucoma
- p.Leu72= Single submitter congenital glaucoma
- p.Lys448= Single submitter congenital glaucoma
- p.Lys454= Single submitter congenital glaucoma
- p.Lys514= Single submitter congenital glaucoma
- p.Phe221= Single submitter congenital glaucoma
- p.Phe261= Single submitter congenital glaucoma
- p.Phe394= Single submitter congenital glaucoma
- p.Phe421= Single submitter congenital glaucoma
- p.Phe445= Single submitter congenital glaucoma
- p.Phe463= Single submitter congenital glaucoma
- p.Pro160Leu Single submitter Inborn genetic diseases
- p.Pro193= Single submitter congenital glaucoma
- p.Pro251= Single submitter congenital glaucoma
- p.Pro253= Single submitter congenital glaucoma
- p.Pro289= Single submitter congenital glaucoma
- p.Pro321= Single submitter congenital glaucoma
- p.Pro350= Single submitter congenital glaucoma
- p.Pro370= Single submitter congenital glaucoma
- p.Pro379= Single submitter congenital glaucoma
- p.Pro415= Single submitter congenital glaucoma
- p.Pro437= Single submitter congenital glaucoma
- p.Pro500= Single submitter congenital glaucoma
- p.Pro51= Single submitter congenital glaucoma
- p.Pro52= Single submitter congenital glaucoma
- p.Pro7= Single submitter congenital glaucoma
- p.Pro93= Single submitter congenital glaucoma
- p.Ser112= Single submitter congenital glaucoma
- p.Ser122= Single submitter congenital glaucoma
- p.Ser206= Single submitter congenital glaucoma
- p.Ser269= Single submitter congenital glaucoma
- p.Ser28= Single submitter congenital glaucoma
- p.Ser331= Single submitter congenital glaucoma
- p.Ser4= Single submitter congenital glaucoma
- p.Ser426= Single submitter
- p.Ser49= Single submitter congenital glaucoma
- p.Ser515= Single submitter congenital glaucoma
- p.Ser73= Single submitter congenital glaucoma
- p.Thr22= Single submitter congenital glaucoma
- p.Thr32= Single submitter congenital glaucoma
- p.Thr337= Single submitter congenital glaucoma
- p.Thr404= Single submitter congenital glaucoma
- p.Thr510= Single submitter congenital glaucoma
- p.Thr521= Single submitter congenital glaucoma
- p.Tyr380= Single submitter congenital glaucoma
- p.Tyr507= Single submitter congenital glaucoma
- p.Tyr81= Single submitter congenital glaucoma
- p.Val126= Single submitter Inborn genetic diseases
- p.Val170= Single submitter congenital glaucoma
- p.Val201= Single submitter congenital glaucoma
- p.Val204= Single submitter congenital glaucoma
- p.Val235= Single submitter congenital glaucoma
- p.Val254= Single submitter congenital glaucoma
- p.Val29= Single submitter
- p.Val320= Single submitter congenital glaucoma
- p.Val356= Single submitter congenital glaucoma
- p.Val381= Single submitter congenital glaucoma
- p.Val395= Single submitter congenital glaucoma
- p.Val397= Single submitter congenital glaucoma
- p.Val460= Single submitter congenital glaucoma
- p.Val465= Single submitter congenital glaucoma
- p.Val84= Single submitter congenital glaucoma
- p.Gln332= No assertion criteria CYP1B1-related disorder
Uncertain significance 200
- p.Arg368His Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis ⚠
- p.Arg368Leu Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis ⚠
- p.Gln144Arg Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis ⚠
- p.Gly168Asp Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis ⚠
- p.Gly329Ser Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis ⚠
- p.Met292Lys Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis ⚠
- p.Pro52Leu Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis ⚠
- p.Trp57Cys Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis ⚠
- p.Val533fs Expert panel CYP1B1-related glaucoma with or without anterior segment dysgenesis
- c.-2G>A Multiple submitters glaucoma 3, primary infantile, B
- p.Arg124His Multiple submitters Inborn genetic diseases ⚠
- p.Arg163Cys Multiple submitters congenital glaucoma ⚠
- p.Arg284Trp Multiple submitters Peters anomaly ⚠
- p.Arg43Pro Multiple submitters Inborn genetic diseases ⚠
- p.Arg80Pro Multiple submitters congenital glaucoma ⚠
- p.Asp316Val Multiple submitters congenital glaucoma ⚠
- p.Asp430Glu Multiple submitters glaucoma 3A ⚠
- p.Leu273Arg Multiple submitters congenital glaucoma ⚠
- p.Lys303Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met244Ile Multiple submitters congenital glaucoma ⚠
- p.Met478Ile Multiple submitters Inborn genetic diseases ⚠
- p.Pro93Ser Multiple submitters Peters anomaly ⚠
- c.1043+2dup Single submitter
- c.1043+6G>C Single submitter congenital glaucoma
- c.-80C>G Single submitter Peters anomaly
- c.-84T>C Single submitter Peters anomaly
- c.*1056G>C Single submitter Peters anomaly
- c.*105C>T Single submitter Peters anomaly
- c.*1062G>T Single submitter Peters anomaly
- c.*1075G>C Single submitter Peters anomaly
- c.*1079C>G Single submitter Peters anomaly
- c.*1141A>G Single submitter Peters anomaly
- c.*115G>A Single submitter Peters anomaly
- c.*118C>G Single submitter Peters anomaly
- c.*1269T>A Single submitter Peters anomaly
- c.*1346A>G Single submitter Peters anomaly
- c.*1450T>C Single submitter Peters anomaly
- c.*1460A>G Single submitter Peters anomaly
- c.*1491G>T Single submitter Peters anomaly
- c.*1544G>A Single submitter Peters anomaly
- c.*1561A>C Single submitter Peters anomaly
- c.*1601C>T Single submitter Peters anomaly
- c.*1611G>A Single submitter Peters anomaly
- c.*1683A>G Single submitter glaucoma 3A
- c.*1730A>G Single submitter Peters anomaly
- c.*1746T>C Single submitter glaucoma 3A
- c.*1766G>A Single submitter glaucoma 3A
- c.*1781T>C Single submitter Peters anomaly
- c.*1798T>G Single submitter Peters anomaly
- c.*1895C>T Single submitter glaucoma 3A
- c.*1908G>A Single submitter Peters anomaly
- c.*1910A>G Single submitter Peters anomaly
- c.*1938G>A Single submitter glaucoma 3A
- c.*1956A>G Single submitter Peters anomaly
- c.*1961G>C Single submitter Peters anomaly
- c.*2207G>A Single submitter glaucoma 3A
- c.*2209A>G Single submitter glaucoma 3A
- c.*2289G>T Single submitter glaucoma 3A
- c.*2304A>C Single submitter glaucoma 3A
- c.*233A>G Single submitter Peters anomaly
- c.*2349G>A Single submitter glaucoma 3A
- c.*2498T>C Single submitter Peters anomaly
- c.*2499T>C Single submitter glaucoma 3A
- c.*2597A>G Single submitter Peters anomaly
- c.*2660T>A Single submitter glaucoma 3A
- c.*2760C>A Single submitter Peters anomaly
- c.*3024T>C Single submitter Peters anomaly
- c.*3064A>T Single submitter Peters anomaly
- c.*3078G>A Single submitter glaucoma 3A
- c.*3086T>A Single submitter Peters anomaly
- c.*380G>A Single submitter Peters anomaly
- c.*43C>T Single submitter Peters anomaly
- c.*466G>A Single submitter Peters anomaly
- c.*493G>A Single submitter Peters anomaly
- c.*661T>A Single submitter Peters anomaly
- c.*688T>C Single submitter Peters anomaly
- c.*864T>C Single submitter Peters anomaly
- c.*917G>A Single submitter Peters anomaly
- c.*945C>T Single submitter Peters anomaly
- c.*972T>C Single submitter Peters anomaly
- c.*980A>C Single submitter Peters anomaly
- c.*981T>C Single submitter Peters anomaly
- p.Ala115Pro Single submitter ⚠
- p.Ala133Pro Single submitter Inborn genetic diseases ⚠
- p.Ala147Pro Single submitter congenital glaucoma ⚠
- p.Ala288Pro Single submitter ⚠
- p.Ala288Val Single submitter ⚠
- p.Ala295Thr Single submitter ⚠
- p.Ala304Glu Single submitter Inborn genetic diseases ⚠
- p.Ala31Asp Single submitter anterior segment dysgenesis 6 ⚠
- p.Ala358Thr Single submitter Inborn genetic diseases ⚠
- p.Ala402Gly Single submitter Inborn genetic diseases ⚠
- p.Ala501Glu Single submitter Inborn genetic diseases ⚠
- p.Ala50Val Single submitter ⚠
- p.Ala63Pro Single submitter ⚠
- p.Ala78Glu Single submitter congenital glaucoma ⚠
- p.Arg175Pro Single submitter ⚠
- p.Arg222Gly Single submitter Inborn genetic diseases ⚠
- p.Arg233Pro Single submitter CYP1B1-related disorder ⚠
- p.Arg255Leu Single submitter Inborn genetic diseases
- p.Arg259His Single submitter Inborn genetic diseases ⚠
- p.Arg41Thr Single submitter ⚠
- p.Arg76His Single submitter Inborn genetic diseases ⚠
- p.Arg76Ser Single submitter Peters anomaly ⚠
- p.Arg88Ser Single submitter Inborn genetic diseases
- p.Asn270Ser Single submitter Peters anomaly ⚠
- p.Asn377Ser Single submitter congenital glaucoma ⚠
- p.Asn428Thr Single submitter Inborn genetic diseases ⚠
- p.Asn436His Single submitter Inborn genetic diseases ⚠
- p.Asn439Lys Single submitter congenital glaucoma ⚠
- p.Asn519Thr Single submitter Inborn genetic diseases ⚠
- p.Asn8= Single submitter Peters anomaly
- p.Asp187Glu Single submitter ⚠
- p.Asp192Asn Single submitter ⚠
- p.Asp361His Single submitter Inborn genetic diseases ⚠
- p.Asp441Gly Single submitter ⚠
- p.Asp441His Single submitter congenital glaucoma ⚠
- p.Asp449Asn Single submitter Inborn genetic diseases ⚠
- p.Asp455Val Single submitter Inborn genetic diseases ⚠
- p.Asp492Asn Single submitter Peters anomaly ⚠
- p.Asp530Glu Single submitter congenital glaucoma ⚠
- p.Gln159His Single submitter Inborn genetic diseases ⚠
- p.Gln20Glu Single submitter Inborn genetic diseases ⚠
- p.Gln248Arg Single submitter Inborn genetic diseases ⚠
- p.Gln534Lys Single submitter congenital glaucoma ⚠
- p.Glu139Lys Single submitter ⚠
- p.Glu167Gln Single submitter Inborn genetic diseases ⚠
- p.Glu301Gln Single submitter Inborn genetic diseases ⚠
- p.Glu474Ala Single submitter congenital glaucoma ⚠
- p.Gly238Cys Single submitter Peters anomaly ⚠
- p.Gly365Arg Single submitter glaucoma 3A ⚠
- p.Gly411Asp Single submitter Inborn genetic diseases ⚠
- p.His149Asp Single submitter Inborn genetic diseases ⚠
- p.His401Arg Single submitter Peters anomaly
- p.Ile103Ser Single submitter Inborn genetic diseases ⚠
- p.Ile399Met Single submitter
- p.Ile399Val Single submitter ⚠
- p.Ile471Phe Single submitter ⚠
- p.Ile471Thr Single submitter ⚠
- p.Ile87Leu Single submitter Inborn genetic diseases ⚠
- p.Leu24Arg Single submitter ⚠
- p.Leu27Pro Single submitter
- p.Leu283Arg Single submitter Inborn genetic diseases ⚠
- p.Leu298His Single submitter ⚠
- p.Leu335Gln Single submitter Inborn genetic diseases ⚠
- p.Leu343Pro Single submitter Inborn genetic diseases ⚠
- p.Leu385Arg Single submitter glaucoma 3A ⚠
- p.Leu72Phe Single submitter Inborn genetic diseases ⚠
- p.Leu89Gln Single submitter Inborn genetic diseases ⚠
- p.Lys142Asn Single submitter Inborn genetic diseases ⚠
- p.Lys416Glu Single submitter Inborn genetic diseases ⚠
- p.Lys467Asn Single submitter ⚠
- p.Lys477Glu Single submitter Inborn genetic diseases ⚠
- p.Met244Thr Single submitter ⚠
- p.Met292Ile Single submitter ⚠
- p.Phe114Leu Single submitter Inborn genetic diseases ⚠
- p.Phe123Leu Single submitter ⚠
- p.Phe190Leu Single submitter ⚠
- p.Phe276Ser Single submitter Inborn genetic diseases ⚠
- p.Phe346Leu Single submitter Inborn genetic diseases ⚠
- p.Phe440Cys Single submitter Peters anomaly ⚠
- p.Phe55Leu Single submitter Inborn genetic diseases ⚠
- p.Phe74Leu Single submitter Inborn genetic diseases ⚠
- p.Pro118Ser Single submitter ⚠
- p.Pro15Thr Single submitter Inborn genetic diseases ⚠
- p.Pro245Ser Single submitter Inborn genetic diseases ⚠
- p.Pro285Ser Single submitter Inborn genetic diseases ⚠
- p.Pro321Arg Single submitter Inborn genetic diseases ⚠
- p.Pro321Gln Single submitter Inborn genetic diseases ⚠
- p.Pro350Ala Single submitter ⚠
- p.Pro437Ala Single submitter ⚠
- p.Pro437Arg Single submitter ⚠
- p.Pro54Arg Single submitter Inborn genetic diseases ⚠
- p.Pro7Arg Single submitter congenital glaucoma ⚠
- p.Ser127= Single submitter Peters anomaly
- p.Ser17Cys Single submitter Inborn genetic diseases ⚠
- p.Ser215Thr Single submitter Peters anomaly ⚠
- p.Ser308Pro Single submitter Inborn genetic diseases ⚠
- p.Ser458Gly Single submitter Inborn genetic diseases ⚠
- p.Ser485Pro Single submitter Inborn genetic diseases ⚠
- p.Ser531Arg Single submitter Peters anomaly ⚠
- p.Ser531Asn Single submitter Inborn genetic diseases ⚠
- p.Ser6Gly Single submitter ⚠
- p.Thr323Ala Single submitter Inborn genetic diseases ⚠
- p.Thr32Pro Single submitter Inborn genetic diseases ⚠
- p.Thr337Ser Single submitter Inborn genetic diseases ⚠
- p.Thr354Ser Single submitter Inborn genetic diseases ⚠
- p.Thr3Asn Single submitter Peters anomaly ⚠
- p.Thr418Ala Single submitter Inborn genetic diseases ⚠
- p.Thr418Ile Single submitter congenital glaucoma ⚠
- p.Trp11Arg Single submitter ⚠
- p.Trp246Arg Single submitter Inborn genetic diseases ⚠
- p.Tyr214Asn Single submitter ⚠
- p.Val108Glu Single submitter Inborn genetic diseases
- p.Val170Leu Single submitter Inborn genetic diseases ⚠
- p.Val178Glu Single submitter ⚠
- p.Val199Leu Single submitter Inborn genetic diseases ⚠
- p.Val84Ile Single submitter Inborn genetic diseases ⚠
- p.Val95Ala Single submitter ⚠
- p.Ser215Ile No assertion criteria ⚠