MYOC — 328 ClinVar variants
All ClinVar germline MYOC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 151 flagged for review →
14 Pathogenic · 35 Likely pathogenic · 22 Benign · 53 Likely benign · 204 Uncertain significance
Full MYOC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 151
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 5
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
MYOC p.Gly246Arg
Likely pathogenic
Expert panel
open-angle glaucoma
-
MYOC p.Ile499Phe
Likely pathogenic
Expert panel
open-angle glaucoma
-
MYOC p.Pro481Leu
Likely pathogenic
Expert panel
open-angle glaucoma
-
MYOC p.Ser502Pro
Likely pathogenic
Expert panel
open-angle glaucoma
-
MYOC p.Val251Ala
Pathogenic
Expert panel
open-angle glaucoma
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.
-
MYOC p.Ala178Thr
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Ala447Thr
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Ala447Val
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Arg346Thr
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Arg7His
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Asn420Tyr
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Asn450Ser
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Asp190Tyr
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Asp208Tyr
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Asp289Asn
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Asp378Asn
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Asp378Gly
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Asp380Asn
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Asp395Asn
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Asp478Tyr
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Cys245Gly
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Cys245Tyr
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Cys5Tyr
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Cys9Ser
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Gln19Lys
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Gln424His
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Gln75Arg
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Glu112Gly
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Glu115Lys
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Glu218Lys
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Glu240Gly
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Glu253Lys
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Glu261Lys
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Glu409Asp
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Glu414Lys
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Gly122Ala
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Gly122Asp
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Gly122Val
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Gly244Ala
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Gly374Val
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Gly399Asp
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Gly458Asp
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.His72Gln
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Ile288Met
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Ile345Met
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Ile360Asn
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Leu102Met
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Leu228Ser
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Leu334Pro
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Leu95Pro
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Lys39Arg
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Phe11Leu
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Phe4Ser
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Pro13Leu
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Pro223Ser
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Pro254Arg
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Pro481Arg
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Ser173Thr
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Ser203Phe
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Ser238Asn
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Ser331Leu
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Ser331Thr
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Ser333Cys
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Ser393Arg
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Ser393Asn
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Ser55Thr
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Thr204Met
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Thr243Asn
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Thr285Met
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Thr290Ala
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Thr343Asn
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Thr419Ala
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Thr496Pro
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Thr80Asn
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Tyr371His
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Tyr471Cys
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Val291Ile
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Val495Ile
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Arg91Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MYOC p.Ala211Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYOC p.Ala32Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYOC p.Arg46Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYOC p.Arg82Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYOC p.Asp273Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- MYOC p.Asp378Tyr Uncertain significance Single submitter
- MYOC p.Cys245Arg Uncertain significance Single submitter
-
MYOC p.Gln187His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYOC p.Gly241Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYOC p.Gly326Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYOC p.Leu303His
Uncertain significance
Single submitter
Inborn genetic diseases
- MYOC p.Lys405Arg Uncertain significance Single submitter
- MYOC p.Met476Val Uncertain significance Single submitter
-
MYOC p.Pro197Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- MYOC p.Ser404Phe Uncertain significance Single submitter
-
MYOC p.Ser44Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYOC p.Ser55Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- MYOC p.Ser79Arg Uncertain significance Single submitter
-
MYOC p.Thr204Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYOC p.Thr50Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYOC p.Trp205Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYOC p.Trp28Ser
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 50
The independent predictors disagree with each other — read with care.
-
MYOC p.Ala427Thr
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Ala488Val
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Arg126Trp
Likely benign
Expert panel
open-angle glaucoma
-
MYOC p.Arg128Trp
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Arg136Ile
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Arg296Cys
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Arg296His
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Arg342Gly
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Arg342Lys
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Arg422Cys
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Arg422His
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Arg470Cys
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Arg82Cys
Likely benign
Expert panel
open-angle glaucoma
-
MYOC p.Asp384Gly
Likely pathogenic
Expert panel
open-angle glaucoma
-
MYOC p.Asp498His
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Cys25Arg
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Gln297His
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Gln337Arg
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Gln337Glu
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Gln337His
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Glu300Lys
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Glu323Lys
Likely pathogenic
Expert panel
open-angle glaucoma
-
MYOC p.Gly244Val
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Gly326Ser
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Gly367Arg
Pathogenic
Expert panel
open-angle glaucoma
-
MYOC p.Gly434Ser
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Ile379Thr
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Ile465Met
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Leu180Gln
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Leu215Gln
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Leu215Pro
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Lys423Gln
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Phe369Leu
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Phe430Leu
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Pro361Ser
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Pro481Ser
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Pro481Thr
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Ser313Phe
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Thr256Met
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Thr325Met
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Thr377Arg
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Thr377Lys
Likely pathogenic
Expert panel
open-angle glaucoma
-
MYOC p.Thr377Met
Pathogenic
Expert panel
open-angle glaucoma
-
MYOC p.Thr448Pro
Uncertain significance
Expert panel
open-angle glaucoma
-
MYOC p.Ala24Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYOC p.Glu176Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- MYOC p.Gly364Ser Uncertain significance Single submitter
- MYOC p.Ile401Leu Uncertain significance Single submitter
-
MYOC p.Lys216Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MYOC p.Pro361Leu
Uncertain significance
Single submitter
Inborn genetic diseases
All MYOC variants
Pathogenic 14
- p.Asn480Lys Expert panel open-angle glaucoma
- p.Asp380Ala Expert panel open-angle glaucoma
- p.Cys433Arg Expert panel open-angle glaucoma
- p.Gln368Ter Expert panel open-angle glaucoma
- p.Gly252Arg Expert panel open-angle glaucoma
- p.Gly364Val Expert panel open-angle glaucoma
- p.Gly367Arg Expert panel open-angle glaucoma ⚠
- p.Lys423Glu Expert panel open-angle glaucoma
- p.Pro370Leu Expert panel open-angle glaucoma
- p.Ser341Pro Expert panel open-angle glaucoma
- p.Thr377Met Expert panel open-angle glaucoma ⚠
- p.Tyr437His Expert panel open-angle glaucoma
- p.Val251Ala Expert panel open-angle glaucoma ⚠
- p.Arg189Ter Single submitter
Likely pathogenic 35
- p.Ala363Thr Expert panel open-angle glaucoma
- p.Arg272Gly Expert panel open-angle glaucoma
- p.Asn450Tyr Expert panel open-angle glaucoma
- p.Asp380Gly Expert panel open-angle glaucoma
- p.Asp380His Expert panel open-angle glaucoma
- p.Asp380Tyr Expert panel open-angle glaucoma
- p.Asp384Asn Expert panel open-angle glaucoma
- p.Asp384Gly Expert panel open-angle glaucoma ⚠
- p.Asp384His Expert panel open-angle glaucoma
- p.Cys433Tyr Expert panel open-angle glaucoma
- p.Glu323Lys Expert panel open-angle glaucoma ⚠
- p.Glu385Lys Expert panel open-angle glaucoma
- p.Glu396dup Expert panel open-angle glaucoma
- p.Gly246Arg Expert panel open-angle glaucoma ⚠
- p.Gly326Arg Expert panel open-angle glaucoma
- p.Gly367_Gln368delinsVal Expert panel open-angle glaucoma
- p.Gly387Asp Expert panel open-angle glaucoma
- p.Gly399Val Expert panel open-angle glaucoma
- p.Ile477Asn Expert panel open-angle glaucoma
- p.Ile477Ser Expert panel open-angle glaucoma
- p.Ile499Phe Expert panel open-angle glaucoma ⚠
- p.Ile499Ser Expert panel open-angle glaucoma
- p.Leu486Phe Expert panel open-angle glaucoma
- p.Pro254Leu Expert panel open-angle glaucoma
- p.Pro254Thr Expert panel open-angle glaucoma
- p.Pro274Arg Expert panel open-angle glaucoma
- p.Pro481Leu Expert panel open-angle glaucoma ⚠
- p.Ser502Pro Expert panel open-angle glaucoma ⚠
- p.Thr377Lys Expert panel open-angle glaucoma ⚠
- p.Thr438Ile Expert panel open-angle glaucoma
- p.Thr455Lys Expert panel open-angle glaucoma
- p.Trp286Arg Expert panel open-angle glaucoma
- p.Tyr371Asp Expert panel open-angle glaucoma
- p.Tyr479His Expert panel open-angle glaucoma
- p.Val426Phe Expert panel open-angle glaucoma
Benign 22
- p.Arg76Lys Expert panel open-angle glaucoma
- p.Gln48His Expert panel open-angle glaucoma
- p.Glu352Lys Expert panel open-angle glaucoma
- p.Glu396= Expert panel open-angle glaucoma
- p.Leu159= Expert panel open-angle glaucoma
- p.Lys398Arg Expert panel open-angle glaucoma
- p.Pro13= Expert panel open-angle glaucoma
- p.Thr204= Expert panel open-angle glaucoma
- p.Thr285= Expert panel open-angle glaucoma
- p.Thr325= Expert panel open-angle glaucoma
- p.Tyr347= Expert panel open-angle glaucoma
- c.730+35G>A Multiple submitters
- c.604+13A>C Single submitter
- c.604+228A>T Single submitter
- c.604+314T>C Single submitter
- c.604+50G>A Single submitter
- c.605-210del Single submitter
- c.605-280T>G Single submitter
- c.605-303C>G Single submitter
- c.605-332G>A Single submitter
- c.731-205A>C Single submitter
- c.*73G>C Single submitter glaucoma 1, open angle, A
Likely benign 53
- p.Ala445Val Expert panel open-angle glaucoma
- p.Ala488= Expert panel open-angle glaucoma
- p.Arg126Trp Expert panel open-angle glaucoma ⚠
- p.Arg147Gln Expert panel open-angle glaucoma
- p.Arg158Gln Expert panel open-angle glaucoma
- p.Arg272= Expert panel open-angle glaucoma
- p.Arg33Lys Expert panel open-angle glaucoma
- p.Arg38= Expert panel open-angle glaucoma
- p.Arg46Ter Expert panel open-angle glaucoma
- p.Arg82Cys Expert panel open-angle glaucoma ⚠
- p.Asn57Asp Expert panel open-angle glaucoma
- p.Asp208Glu Expert panel open-angle glaucoma
- p.Asp302= Expert panel open-angle glaucoma
- p.Asp395Glu Expert panel open-angle glaucoma
- p.Gln101= Expert panel open-angle glaucoma
- p.Gln19His Expert panel open-angle glaucoma
- p.Glu218= Expert panel open-angle glaucoma
- p.Glu340= Expert panel open-angle glaucoma
- p.Gly122= Expert panel open-angle glaucoma
- p.Gly12Arg Expert panel open-angle glaucoma
- p.Gly183Ser Expert panel open-angle glaucoma
- p.Ile288= Expert panel open-angle glaucoma
- p.Leu303Ile Expert panel open-angle glaucoma
- p.Leu318= Expert panel open-angle glaucoma
- p.Leu413= Expert panel open-angle glaucoma
- p.Lys216= Expert panel open-angle glaucoma
- p.Lys484= Expert panel open-angle glaucoma
- p.Lys500Arg Expert panel open-angle glaucoma
- p.Phe430= Expert panel open-angle glaucoma
- p.Pro370= Expert panel open-angle glaucoma
- p.Ser52Gly Expert panel open-angle glaucoma
- p.Thr103= Expert panel open-angle glaucoma
- p.Thr123= Expert panel open-angle glaucoma
- p.Thr209Asn Expert panel open-angle glaucoma
- p.Thr293Lys Expert panel open-angle glaucoma
- p.Thr351= Expert panel open-angle glaucoma
- p.Thr353Ile Expert panel open-angle glaucoma
- p.Thr394= Expert panel open-angle glaucoma
- p.Tyr267= Expert panel open-angle glaucoma
- p.Val329Met Expert panel open-angle glaucoma
- p.Val449Ile Expert panel open-angle glaucoma
- p.Val53Ala Expert panel open-angle glaucoma
- p.Val70= Expert panel open-angle glaucoma
- c.604+16G>A Single submitter
- c.604+16G>C Single submitter
- c.730+13G>A Single submitter
- c.730+227del Single submitter
- p.Arg193Gln Single submitter Inborn genetic diseases
- p.Leu180= Single submitter
- p.Ser217= Single submitter
- p.Thr377= Single submitter
- p.Val269= Single submitter
- p.Val30= Single submitter
Uncertain significance 204
- c.604+1G>C Expert panel open-angle glaucoma
- p.Ala141= Expert panel open-angle glaucoma
- p.Ala178Thr Expert panel open-angle glaucoma ⚠
- p.Ala260= Expert panel open-angle glaucoma
- p.Ala427Thr Expert panel open-angle glaucoma ⚠
- p.Ala447Thr Expert panel open-angle glaucoma ⚠
- p.Ala447Val Expert panel open-angle glaucoma ⚠
- p.Ala488Val Expert panel open-angle glaucoma ⚠
- p.Arg125fs Expert panel open-angle glaucoma
- p.Arg128= Expert panel open-angle glaucoma
- p.Arg128Trp Expert panel open-angle glaucoma ⚠
- p.Arg136Ile Expert panel open-angle glaucoma ⚠
- p.Arg158Ter Expert panel open-angle glaucoma
- p.Arg168= Expert panel open-angle glaucoma
- p.Arg200= Expert panel open-angle glaucoma
- p.Arg200fs Expert panel open-angle glaucoma
- p.Arg272Ter Expert panel open-angle glaucoma
- p.Arg296Cys Expert panel open-angle glaucoma ⚠
- p.Arg296His Expert panel open-angle glaucoma ⚠
- p.Arg320= Expert panel open-angle glaucoma
- p.Arg342Gly Expert panel open-angle glaucoma ⚠
- p.Arg342Lys Expert panel open-angle glaucoma ⚠
- p.Arg346Thr Expert panel open-angle glaucoma ⚠
- p.Arg422Cys Expert panel open-angle glaucoma ⚠
- p.Arg422His Expert panel open-angle glaucoma ⚠
- p.Arg470Cys Expert panel open-angle glaucoma ⚠
- p.Arg7His Expert panel open-angle glaucoma ⚠
- p.Arg91Ter Expert panel open-angle glaucoma
- p.Asn420Tyr Expert panel open-angle glaucoma ⚠
- p.Asn450Asp Expert panel open-angle glaucoma
- p.Asn450Ser Expert panel open-angle glaucoma ⚠
- p.Asp190Tyr Expert panel open-angle glaucoma ⚠
- p.Asp208Tyr Expert panel open-angle glaucoma ⚠
- p.Asp289Asn Expert panel open-angle glaucoma ⚠
- p.Asp378Asn Expert panel open-angle glaucoma ⚠
- p.Asp378Gly Expert panel open-angle glaucoma ⚠
- p.Asp380Asn Expert panel open-angle glaucoma ⚠
- p.Asp395_Glu396insAspPro Expert panel open-angle glaucoma
- p.Asp395Asn Expert panel open-angle glaucoma ⚠
- p.Asp478Tyr Expert panel open-angle glaucoma ⚠
- p.Asp498His Expert panel open-angle glaucoma ⚠
- p.Cys245Gly Expert panel open-angle glaucoma ⚠
- p.Cys245Tyr Expert panel open-angle glaucoma ⚠
- p.Cys25Arg Expert panel open-angle glaucoma ⚠
- p.Cys25fs Expert panel open-angle glaucoma
- p.Cys47= Expert panel open-angle glaucoma
- p.Cys5Tyr Expert panel open-angle glaucoma ⚠
- p.Cys8Ter Expert panel open-angle glaucoma
- p.Cys9Ser Expert panel open-angle glaucoma ⚠
- p.Gln134= Expert panel open-angle glaucoma
- p.Gln19Lys Expert panel open-angle glaucoma ⚠
- p.Gln282fs Expert panel open-angle glaucoma
- p.Gln297His Expert panel open-angle glaucoma ⚠
- p.Gln337Arg Expert panel open-angle glaucoma ⚠
- p.Gln337fs Expert panel open-angle glaucoma
- p.Gln337Glu Expert panel open-angle glaucoma ⚠
- p.Gln337His Expert panel open-angle glaucoma ⚠
- p.Gln424His Expert panel open-angle glaucoma ⚠
- p.Gln75Arg Expert panel open-angle glaucoma ⚠
- p.Glu112Gly Expert panel open-angle glaucoma ⚠
- p.Glu115Lys Expert panel open-angle glaucoma ⚠
- p.Glu115Ter Expert panel open-angle glaucoma
- p.Glu120fs Expert panel open-angle glaucoma
- p.Glu14= Expert panel open-angle glaucoma
- p.Glu162_Asn163insGlu Expert panel open-angle glaucoma
- p.Glu176fs Expert panel open-angle glaucoma
- p.Glu218Lys Expert panel open-angle glaucoma ⚠
- p.Glu240Gly Expert panel open-angle glaucoma ⚠
- p.Glu247fs Expert panel open-angle glaucoma
- p.Glu253Lys Expert panel open-angle glaucoma ⚠
- p.Glu261Lys Expert panel open-angle glaucoma ⚠
- p.Glu283= Expert panel open-angle glaucoma
- p.Glu300Lys Expert panel open-angle glaucoma ⚠
- p.Glu300Ter Expert panel open-angle glaucoma
- p.Glu409Asp Expert panel open-angle glaucoma ⚠
- p.Glu414Lys Expert panel open-angle glaucoma ⚠
- p.Glu483Ter Expert panel open-angle glaucoma
- p.Gly122Ala Expert panel open-angle glaucoma ⚠
- p.Gly122Asp Expert panel open-angle glaucoma ⚠
- p.Gly122Val Expert panel open-angle glaucoma ⚠
- p.Gly244Ala Expert panel open-angle glaucoma ⚠
- p.Gly244Val Expert panel open-angle glaucoma ⚠
- p.Gly326Ser Expert panel open-angle glaucoma ⚠
- p.Gly362fs Expert panel open-angle glaucoma
- p.Gly374Val Expert panel open-angle glaucoma ⚠
- p.Gly399Asp Expert panel open-angle glaucoma ⚠
- p.Gly434= Expert panel open-angle glaucoma
- p.Gly434Ser Expert panel open-angle glaucoma ⚠
- p.Gly458Asp Expert panel open-angle glaucoma ⚠
- p.His72Gln Expert panel open-angle glaucoma ⚠
- p.Ile288Met Expert panel open-angle glaucoma ⚠
- p.Ile345Met Expert panel open-angle glaucoma ⚠
- p.Ile360Asn Expert panel open-angle glaucoma ⚠
- p.Ile379Thr Expert panel open-angle glaucoma ⚠
- p.Ile465Met Expert panel open-angle glaucoma ⚠
- p.Leu102Met Expert panel open-angle glaucoma ⚠
- p.Leu124= Expert panel open-angle glaucoma
- p.Leu166= Expert panel open-angle glaucoma
- p.Leu180Gln Expert panel open-angle glaucoma ⚠
- p.Leu215Gln Expert panel open-angle glaucoma ⚠
- p.Leu215Pro Expert panel open-angle glaucoma ⚠
- p.Leu228Ser Expert panel open-angle glaucoma ⚠
- p.Leu23fs Expert panel open-angle glaucoma
- p.Leu255Pro Expert panel open-angle glaucoma
- p.Leu334Pro Expert panel open-angle glaucoma ⚠
- p.Leu403= Expert panel open-angle glaucoma
- p.Leu95Pro Expert panel open-angle glaucoma ⚠
- p.Lys156= Expert panel open-angle glaucoma
- p.Lys266= Expert panel open-angle glaucoma
- p.Lys275fs Expert panel open-angle glaucoma
- p.Lys275Ter Expert panel open-angle glaucoma
- p.Lys39Arg Expert panel open-angle glaucoma ⚠
- p.Lys423Gln Expert panel open-angle glaucoma ⚠
- p.Lys484fs Expert panel open-angle glaucoma
- p.Phe11Leu Expert panel open-angle glaucoma ⚠
- p.Phe299= Expert panel open-angle glaucoma
- p.Phe336= Expert panel open-angle glaucoma
- p.Phe369Leu Expert panel open-angle glaucoma ⚠
- p.Phe430Leu Expert panel open-angle glaucoma ⚠
- p.Phe4Ser Expert panel open-angle glaucoma ⚠
- p.Pro13Leu Expert panel open-angle glaucoma ⚠
- p.Pro223Ser Expert panel open-angle glaucoma ⚠
- p.Pro254Arg Expert panel open-angle glaucoma ⚠
- p.Pro361Ser Expert panel open-angle glaucoma ⚠
- p.Pro481Arg Expert panel open-angle glaucoma ⚠
- p.Pro481Ser Expert panel open-angle glaucoma ⚠
- p.Pro481Thr Expert panel open-angle glaucoma ⚠
- p.Ser173Thr Expert panel open-angle glaucoma ⚠
- p.Ser203Phe Expert panel open-angle glaucoma ⚠
- p.Ser238Asn Expert panel open-angle glaucoma ⚠
- p.Ser313Phe Expert panel open-angle glaucoma ⚠
- p.Ser331Leu Expert panel open-angle glaucoma ⚠
- p.Ser331Thr Expert panel open-angle glaucoma ⚠
- p.Ser333Cys Expert panel open-angle glaucoma ⚠
- p.Ser393Arg Expert panel open-angle glaucoma ⚠
- p.Ser393Asn Expert panel open-angle glaucoma ⚠
- p.Ser425Ter Expert panel open-angle glaucoma
- p.Ser55Thr Expert panel open-angle glaucoma ⚠
- p.Ter505Trp Expert panel open-angle glaucoma
- p.Thr191= Expert panel open-angle glaucoma
- p.Thr204Met Expert panel open-angle glaucoma ⚠
- p.Thr243Asn Expert panel open-angle glaucoma ⚠
- p.Thr256Met Expert panel open-angle glaucoma ⚠
- p.Thr285Met Expert panel open-angle glaucoma ⚠
- p.Thr290Ala Expert panel open-angle glaucoma ⚠
- p.Thr293= Expert panel open-angle glaucoma
- p.Thr325Met Expert panel open-angle glaucoma ⚠
- p.Thr343Asn Expert panel open-angle glaucoma ⚠
- p.Thr377Arg Expert panel open-angle glaucoma ⚠
- p.Thr419Ala Expert panel open-angle glaucoma ⚠
- p.Thr438= Expert panel open-angle glaucoma
- p.Thr448Pro Expert panel open-angle glaucoma ⚠
- p.Thr496Pro Expert panel open-angle glaucoma ⚠
- p.Thr80Asn Expert panel open-angle glaucoma ⚠
- p.Trp373Ter Expert panel open-angle glaucoma
- p.Trp489fs Expert panel open-angle glaucoma
- p.Trp489Ter Expert panel open-angle glaucoma
- p.Tyr371His Expert panel open-angle glaucoma ⚠
- p.Tyr453fs Expert panel open-angle glaucoma
- p.Tyr471Cys Expert panel open-angle glaucoma ⚠
- p.Val291Ile Expert panel open-angle glaucoma ⚠
- p.Val426= Expert panel open-angle glaucoma
- p.Val439= Expert panel open-angle glaucoma
- p.Val495Ile Expert panel open-angle glaucoma ⚠
- c.*241A>G Multiple submitters glaucoma
- p.Arg91Gln Multiple submitters Inborn genetic diseases ⚠
- p.Phe212Val Multiple submitters Inborn genetic diseases
- c.*182C>A Single submitter glaucoma
- c.*188C>T Single submitter glaucoma 1, open angle, A
- c.*273G>A Single submitter glaucoma 1, open angle, A
- c.*331A>G Single submitter glaucoma
- c.*426C>T Single submitter glaucoma 1, open angle, A
- c.*71G>A Single submitter glaucoma
- p.Ala211Thr Single submitter Inborn genetic diseases ⚠
- p.Ala24Asp Single submitter Inborn genetic diseases ⚠
- p.Ala32Thr Single submitter Inborn genetic diseases ⚠
- p.Arg226Ter Single submitter Inborn genetic diseases
- p.Arg46Gln Single submitter Inborn genetic diseases ⚠
- p.Arg82Ser Single submitter Inborn genetic diseases ⚠
- p.Asp273Glu Single submitter Inborn genetic diseases ⚠
- p.Asp378Tyr Single submitter ⚠
- p.Cys245Arg Single submitter ⚠
- p.Gln187His Single submitter Inborn genetic diseases ⚠
- p.Glu176Ala Single submitter Inborn genetic diseases ⚠
- p.Gly241Arg Single submitter Inborn genetic diseases ⚠
- p.Gly326Asp Single submitter Inborn genetic diseases ⚠
- p.Gly364Ser Single submitter ⚠
- p.Ile288fs Single submitter
- p.Ile401Leu Single submitter ⚠
- p.Leu303His Single submitter Inborn genetic diseases ⚠
- p.Lys216Thr Single submitter Inborn genetic diseases ⚠
- p.Lys405Arg Single submitter ⚠
- p.Met476Val Single submitter ⚠
- p.Pro197Arg Single submitter Inborn genetic diseases ⚠
- p.Pro361Leu Single submitter Inborn genetic diseases ⚠
- p.Ser404Phe Single submitter ⚠
- p.Ser44Asn Single submitter Inborn genetic diseases ⚠
- p.Ser55Asn Single submitter Inborn genetic diseases ⚠
- p.Ser79Arg Single submitter ⚠
- p.Thr204Ser Single submitter Inborn genetic diseases ⚠
- p.Thr50Ile Single submitter Inborn genetic diseases ⚠
- p.Trp205Leu Single submitter Inborn genetic diseases ⚠
- p.Trp28Ser Single submitter Inborn genetic diseases ⚠
- p.Tyr497Ter Single submitter