RPGR — 1825 ClinVar variants
All ClinVar germline RPGR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 262 flagged for review →
405 Pathogenic · 82 Pathogenic/Likely pathogenic · 269 Likely pathogenic · 101 Conflicting · 103 Benign · 28 Benign/Likely benign · 329 Likely benign · 508 Uncertain significance
Full RPGR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 262
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 4
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
RPGR p.Glu585Lys
Pathogenic
Expert panel
RPGR-related retinopathy
-
RPGR p.Gly436Asp
Likely pathogenic
Expert panel
RPGR-related retinopathy
-
RPGR p.Gly52Arg
Pathogenic
Expert panel
RPGR-related retinopathy
-
RPGR p.Ile350Val
Likely pathogenic
Single submitter
inherited retinal dystrophy
Predictors agree, ClinVar conflicts 38
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
RPGR c.1754-9G>A
Conflicting
Single submitter
primary ciliary dyskinesia
-
RPGR p.Ala482Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
RPGR p.Ala692Pro
Conflicting
Single submitter
primary ciliary dyskinesia
-
RPGR p.Arg127Gly
Conflicting
Single submitter
inherited retinal dystrophy
-
RPGR p.Arg425Gly
Conflicting
Single submitter
primary ciliary dyskinesia
-
RPGR p.Asn444Ser
Conflicting
Single submitter
primary ciliary dyskinesia
-
RPGR p.Asp382Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
RPGR p.Cys302Tyr
Conflicting
Single submitter
inherited retinal dystrophy
-
RPGR p.Cys450Arg
Conflicting
Single submitter
retinitis pigmentosa 3
-
RPGR p.Gln118Pro
Conflicting
Single submitter
RPGR-related disorder
-
RPGR p.Gln521Glu
Conflicting
Single submitter
primary ciliary dyskinesia
-
RPGR p.Gln66Arg
Conflicting
Single submitter
retinitis pigmentosa 3
-
RPGR p.Glu457Asp
Conflicting
Single submitter
primary ciliary dyskinesia
-
RPGR p.Glu481Asp
Conflicting
Single submitter
primary ciliary dyskinesia
-
RPGR p.Glu588Gly
Conflicting
Single submitter
primary ciliary dyskinesia
-
RPGR p.Gly165Arg
Conflicting
Single submitter
primary ciliary dyskinesia
-
RPGR p.Gly251Asp
Conflicting
Single submitter
primary ciliary dyskinesia
-
RPGR p.Gly494Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
RPGR p.Gly65Arg
Conflicting
Single submitter
RPGR-related disorder
-
RPGR p.Ile529Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
RPGR p.Ile576Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
RPGR p.Leu100Pro
Conflicting
Single submitter
RPGR-related disorder
-
RPGR p.Leu119Ser
Conflicting
Single submitter
RPGR-related disorder
-
RPGR p.Leu428Val
Conflicting
Single submitter
primary ciliary dyskinesia
-
RPGR p.Leu500Phe
Conflicting
Single submitter
primary ciliary dyskinesia
-
RPGR p.Phe377Leu
Conflicting
Single submitter
primary ciliary dyskinesia
-
RPGR p.Phe390Leu
Conflicting
Single submitter
primary ciliary dyskinesia
-
RPGR p.Pro392Leu
Conflicting
Single submitter
primary ciliary dyskinesia
-
RPGR p.Pro768Leu
Conflicting
Single submitter
primary ciliary dyskinesia
-
RPGR p.Thr103Lys
Conflicting
Single submitter
primary ciliary dyskinesia
-
RPGR p.Thr255Ile
Conflicting
Single submitter
inherited retinal dystrophy
-
RPGR p.Thr536Ile
Conflicting
Single submitter
primary ciliary dyskinesia
-
RPGR p.Thr539Ile
Conflicting
Single submitter
primary ciliary dyskinesia
-
RPGR p.Thr570Ala
Conflicting
Single submitter
retinitis pigmentosa 3
-
RPGR p.Thr570Met
Conflicting
Single submitter
primary ciliary dyskinesia
-
RPGR p.Tyr547Phe
Conflicting
Single submitter
primary ciliary dyskinesia
-
RPGR p.Tyr718His
Conflicting
Single submitter
primary ciliary dyskinesia
- RPGR p.Val362Ile Conflicting Single submitter
Predictors lean, ClinVar uncertain 182
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 182
-
RPGR p.Arg323His
Uncertain significance
Expert panel
RPGR-related retinopathy
-
RPGR p.Asn167Lys
Uncertain significance
Expert panel
RPGR-related retinopathy
-
RPGR p.Asp312Asn
Uncertain significance
Expert panel
RPGR-related retinopathy
-
RPGR p.Cys42Phe
Uncertain significance
Expert panel
RPGR-related retinopathy
-
RPGR p.Cys42Trp
Uncertain significance
Expert panel
RPGR-related retinopathy
-
RPGR p.Gln66His
Uncertain significance
Expert panel
RPGR-related retinopathy
-
RPGR p.Gly251Val
Uncertain significance
Expert panel
RPGR-related retinopathy
-
RPGR p.Gly269Glu
Uncertain significance
Expert panel
RPGR-related retinopathy
-
RPGR p.Gly303Glu
Uncertain significance
Expert panel
RPGR-related retinopathy
-
RPGR p.Gly43Arg
Uncertain significance
Expert panel
RPGR-related retinopathy
-
RPGR p.Gly43Glu
Uncertain significance
Expert panel
RPGR-related retinopathy
-
RPGR p.Phe130Cys
Uncertain significance
Expert panel
RPGR-related retinopathy
-
RPGR p.Phe130Ser
Uncertain significance
Expert panel
RPGR-related retinopathy
-
RPGR p.Thr307Lys
Uncertain significance
Expert panel
RPGR-related retinopathy
-
RPGR p.Val177Ile
Uncertain significance
Expert panel
RPGR-related retinopathy
-
RPGR p.Ala249Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RPGR p.Ala707Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RPGR p.Ala83Thr
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
RPGR p.Arg293Met
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
RPGR p.Arg323Cys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RPGR p.Arg415Met
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RPGR p.Asn115Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RPGR p.Asp123Glu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RPGR p.Asp542Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
- RPGR p.Cys356Arg Uncertain significance Multiple submitters
-
RPGR p.Glu216Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
- RPGR p.Glu253Gly Uncertain significance Multiple submitters
-
RPGR p.Glu495Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RPGR p.Gly252Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RPGR p.His254Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RPGR p.His562Gln
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RPGR p.Ile188Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RPGR p.Ile431Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RPGR p.Ile748Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RPGR p.Leu465Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RPGR p.Met466Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RPGR p.Met550Ile
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RPGR p.Met58Val
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RPGR p.Pro225Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RPGR p.Pro37Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RPGR p.Pro429Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RPGR p.Thr156Asn
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RPGR p.Thr206Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RPGR p.Thr51Ala
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RPGR c.1754-7T>G
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Ala147Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
- RPGR p.Ala153Asp Uncertain significance Single submitter
-
RPGR p.Ala153Thr
Uncertain significance
Single submitter
retinitis pigmentosa 3
-
RPGR p.Ala203Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Ala372Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Ala593Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Ala608Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Ala83Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Ala93Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Arg323Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Asn150Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Asn226Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Asn226Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Asn231His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Asn231Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Asn291Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
- RPGR p.Asn34Lys Uncertain significance Single submitter
- RPGR p.Asn400Ser Uncertain significance Single submitter
-
RPGR p.Asn444Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Asn511Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Asn511Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Asn599Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Asn609Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Asn609Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Asn765Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Asn785Asp
Uncertain significance
Single submitter
primary ciliary dyskinesia
- RPGR p.Asp208Gly Uncertain significance Single submitter
- RPGR p.Asp321Gly Uncertain significance Single submitter
-
RPGR p.Asp378Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
- RPGR p.Asp485Asn Uncertain significance Single submitter
- RPGR p.Asp535Asn Uncertain significance Single submitter
- RPGR p.Asp535Gly Uncertain significance Single submitter
- RPGR p.Asp689Val Uncertain significance Single submitter
-
RPGR p.Asp789His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Asp789Val
Uncertain significance
Single submitter
inherited retinal dystrophy
-
RPGR p.Cys302Phe
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Cys356Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Cys42Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
- RPGR p.Cys559Ser Uncertain significance Single submitter
-
RPGR p.Cys94Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Gln118His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Gln227Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Gln403Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Gln534Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Gln565Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Gln604Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
- RPGR p.Gln66Leu Uncertain significance Single submitter
- RPGR p.Gln778Lys Uncertain significance Single submitter
-
RPGR p.Gln795Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Glu374Gly
Uncertain significance
Single submitter
Leber congenital amaurosis
-
RPGR p.Glu416Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Glu45Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
- RPGR p.Glu481Lys Uncertain significance Single submitter
-
RPGR p.Glu583Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
- RPGR p.Glu603Val Uncertain significance Single submitter
-
RPGR p.Glu611Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
- RPGR p.Glu624Asp Uncertain significance Single submitter
- RPGR p.Gly120Arg Uncertain significance Single submitter
- RPGR p.Gly120Glu Uncertain significance Single submitter
- RPGR p.Gly148Glu Uncertain significance Single submitter
- RPGR p.Gly170Val Uncertain significance Single submitter
-
RPGR p.Gly277Asp
Uncertain significance
Single submitter
RPGR-related retinopathy
-
RPGR p.Gly28Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
- RPGR p.Gly303Val Uncertain significance Single submitter
-
RPGR p.Gly357Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
- RPGR p.Gly436Ser Uncertain significance Single submitter
-
RPGR p.Gly65Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Gly68Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.His306Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.His324Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Ile289Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Ile310Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Ile375Met
Uncertain significance
Single submitter
inherited retinal dystrophy
- RPGR p.Ile375Ser Uncertain significance Single submitter
-
RPGR p.Ile375Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Ile499Thr
Uncertain significance
Single submitter
macular degeneration, X-linked atrophic
-
RPGR p.Ile529Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Ile576Phe
Uncertain significance
Single submitter
inherited retinal dystrophy
-
RPGR p.Leu119Trp
Uncertain significance
Single submitter
primary ciliary dyskinesia
- RPGR p.Leu121Arg Uncertain significance Single submitter
-
RPGR p.Leu280Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Leu532Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Leu538Val
Uncertain significance
Single submitter
inherited retinal dystrophy
-
RPGR p.Lys524Asn
Uncertain significance
Single submitter
retinitis pigmentosa 3
-
RPGR p.Lys590Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Lys590Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Lys614Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Lys620Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
- RPGR p.Lys662Arg Uncertain significance Single submitter
- RPGR p.Lys740Glu Uncertain significance Single submitter
- RPGR p.Lys752Arg Uncertain significance Single submitter
-
RPGR p.Met163Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Met466Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Met553Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Met569Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
- RPGR p.Phe334Cys Uncertain significance Single submitter
-
RPGR p.Phe334Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
- RPGR p.Pro183Leu Uncertain significance Single submitter
-
RPGR p.Pro242Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Pro242Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Pro340His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Pro419Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Pro587Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Pro78Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Ser146Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia
Predictors split 38
The independent predictors disagree with each other — read with care.
-
RPGR p.Asn345Asp
Benign
Expert panel
RPGR-related retinopathy
-
RPGR p.Asp312Tyr
Uncertain significance
Expert panel
RPGR-related retinopathy
-
RPGR p.Pro367Ala
Likely benign
Expert panel
RPGR-related retinopathy
-
RPGR p.Thr103Ile
Likely pathogenic
Expert panel
RPGR-related retinopathy
-
RPGR p.Thr503Arg
Benign
Expert panel
RPGR-related retinopathy
-
RPGR p.Thr99Ile
Likely pathogenic
Expert panel
RPGR-related retinopathy
-
RPGR p.Ala355Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RPGR p.Asp498Gly
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RPGR p.Glu104Lys
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RPGR p.Leu347Phe
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RPGR p.Ser11Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
RPGR p.Ala365Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Arg409His
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Arg412Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Asn53Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
- RPGR p.Cys197Tyr Uncertain significance Single submitter
-
RPGR p.Gln118Arg
Conflicting
Single submitter
RPGR-related disorder
-
RPGR p.Gly148Arg
Pathogenic
Single submitter
primary ciliary dyskinesia
- RPGR p.Gly189Arg Uncertain significance Single submitter
-
RPGR p.Gly322Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.His131Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Leu145Val
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Met316Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
- RPGR p.Met502Ile Uncertain significance Single submitter
-
RPGR p.Met502Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Phe136Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Pro367Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Ser168Tyr
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Ser196Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Ser407Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Ser61Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Thr151Ile
Uncertain significance
Single submitter
primary ciliary dyskinesia
-
RPGR p.Thr156Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia
- RPGR p.Thr156Ile Likely benign Single submitter
-
RPGR p.Thr16Ala
Conflicting
Single submitter
primary ciliary dyskinesia
-
RPGR p.Ala48Val
Uncertain significance
No assertion criteria
inherited retinal dystrophy
-
RPGR p.Thr124Pro
Uncertain significance
No assertion criteria
inherited retinal dystrophy
-
RPGR p.Thr99Asn
Pathogenic
No assertion criteria
retinitis pigmentosa 3
All RPGR variants
Pathogenic 405
Showing the top 300 by review status; the full set is in the sitemap.
- c.1245+3A>G Expert panel RPGR-related retinopathy
- c.1245+3A>T Expert panel RPGR-related retinopathy
- c.1506+1G>T Expert panel RPGR-related retinopathy
- c.154+1G>A Expert panel RPGR-related retinopathy
- c.154+3_154+6del Expert panel RPGR-related retinopathy
- c.1572+1G>A Expert panel RPGR-related retinopathy
- c.1572+3A>T Expert panel RPGR-related retinopathy
- c.1573-1G>A Expert panel RPGR-related retinopathy
- c.1754-3C>G Expert panel RPGR-related retinopathy
- c.247+5G>A Expert panel RPGR-related retinopathy
- c.28+1G>A Expert panel RPGR-related retinopathy
- c.310+1G>A Expert panel RPGR-related retinopathy
- c.310+1G>C Expert panel RPGR-related retinopathy
- c.310+3A>G Expert panel RPGR-related retinopathy
- c.469+1G>T Expert panel RPGR-related retinopathy
- c.619+2T>A Expert panel RPGR-related retinopathy
- c.779-1G>A Expert panel RPGR-related retinopathy
- c.779-5T>G Expert panel RPGR-related retinopathy
- c.934+1G>A Expert panel RPGR-related retinopathy
- p.Ala365fs Expert panel RPGR-related retinopathy
- p.Arg412Ter Expert panel RPGR-related retinopathy
- p.Arg415fs Expert panel RPGR-related retinopathy
- p.Arg449Ter Expert panel RPGR-related retinopathy
- p.Arg715delinsSerTer Expert panel RPGR-related retinopathy
- p.Cys359Ter Expert panel RPGR-related retinopathy
- p.Gln236Ter Expert panel RPGR-related retinopathy
- p.Gln270Ter Expert panel RPGR-related retinopathy
- p.Gln467Ter Expert panel RPGR-related retinopathy
- p.Gln521Ter Expert panel RPGR-related retinopathy
- p.Gln565Ter Expert panel RPGR-related retinopathy
- p.Glu1000fs Expert panel RPGR-related retinopathy
- p.Glu1001Ter Expert panel RPGR-related retinopathy
- p.Glu1010fs Expert panel RPGR-related retinopathy
- p.Glu1035fs Expert panel RPGR-related retinopathy
- p.Glu1071fs Expert panel RPGR-related retinopathy
- p.Glu125Ter Expert panel RPGR-related retinopathy
- p.Glu24fs Expert panel RPGR-related retinopathy
- p.Glu374Ter Expert panel RPGR-related retinopathy
- p.Glu585Lys Expert panel RPGR-related retinopathy ⚠
- p.Glu624fs Expert panel RPGR-related retinopathy
- p.Glu726Ter Expert panel RPGR-related retinopathy
- p.Glu740Ter Expert panel RPGR-related retinopathy
- p.Glu754Ter Expert panel RPGR-related retinopathy
- p.Glu802fs Expert panel RPGR-related retinopathy
- p.Glu807fs Expert panel RPGR-related retinopathy
- p.Glu831Ter Expert panel RPGR-related retinopathy
- p.Glu836Ter Expert panel RPGR-related retinopathy
- p.Glu839fs Expert panel RPGR-related retinopathy
- p.Glu884Ter Expert panel RPGR-related retinopathy
- p.Glu894fs Expert panel RPGR-related retinopathy
- p.Glu899Ter Expert panel RPGR-related retinopathy
- p.Glu901fs Expert panel RPGR-related retinopathy
- p.Glu905fs Expert panel RPGR-related retinopathy
- p.Glu906Ter Expert panel RPGR-related retinopathy
- p.Glu911fs Expert panel RPGR-related retinopathy
- p.Glu931fs Expert panel RPGR-related retinopathy
- p.Glu934Ter Expert panel RPGR-related retinopathy
- p.Glu949_Glu950delinsAspTer Expert panel RPGR-related retinopathy
- p.Glu978fs Expert panel RPGR-related retinopathy
- p.Glu982fs Expert panel RPGR-related retinopathy
- p.Glu989fs Expert panel RPGR-related retinopathy
- p.Gly165Asp Expert panel RPGR-related retinopathy
- p.Gly198Arg Expert panel RPGR-related retinopathy
- p.Gly275Ser Expert panel RPGR-related retinopathy
- p.Gly494fs Expert panel RPGR-related retinopathy
- p.Gly52Arg Expert panel RPGR-related retinopathy ⚠
- p.Gly876fs Expert panel RPGR-related retinopathy
- p.Gly887fs Expert panel RPGR-related retinopathy
- p.Gly95Arg Expert panel RPGR-related retinopathy
- p.His562fs Expert panel RPGR-related retinopathy
- p.Ile505fs Expert panel RPGR-related retinopathy
- p.Leu119fs Expert panel RPGR-related retinopathy
- p.Leu327Ter Expert panel RPGR-related retinopathy
- p.Leu385Ter Expert panel RPGR-related retinopathy
- p.Leu435fs Expert panel RPGR-related retinopathy
- p.Lys1106fs Expert panel RPGR-related retinopathy
- p.Lys244Ter Expert panel RPGR-related retinopathy
- p.Lys823_Gly824insTer Expert panel RPGR-related retinopathy
- p.Phe162fs Expert panel RPGR-related retinopathy
- p.Phe279_Leu280insTer Expert panel RPGR-related retinopathy
- p.Pro367fs Expert panel RPGR-related retinopathy
- p.Ser1107fs Expert panel RPGR-related retinopathy
- p.Ser178fs Expert panel RPGR-related retinopathy
- p.Ser284Ter Expert panel RPGR-related retinopathy
- p.Ser514Ter Expert panel RPGR-related retinopathy
- p.Thr528fs Expert panel RPGR-related retinopathy
- p.Trp669Ter Expert panel RPGR-related retinopathy
- p.Tyr1103fs Expert panel RPGR-related retinopathy
- c.155-2A>G Multiple submitters
- c.1573-2A>G Multiple submitters RPGR-related disorder
- c.619+1G>C Multiple submitters primary ciliary dyskinesia
- c.934+1G>C Multiple submitters RPGR-related disorder
- c.935-1G>T Multiple submitters retinitis pigmentosa
- c.935-2A>G Multiple submitters inherited retinal dystrophy
- p.Arg715fs Multiple submitters retinitis pigmentosa
- p.Arg775fs Multiple submitters primary ciliary dyskinesia
- p.Arg780fs Multiple submitters retinitis pigmentosa 3
- p.Asn128fs Multiple submitters RPGR-related disorder
- p.Asn34fs Multiple submitters RPGR-related disorder
- p.Asp656fs Multiple submitters retinitis pigmentosa
- p.Gln456Ter Multiple submitters RPGR-related disorder
- p.Gln463Ter Multiple submitters RPGR-related disorder
- p.Gln534Ter Multiple submitters primary ciliary dyskinesia
- p.Gln717Ter Multiple submitters primary ciliary dyskinesia
- p.Gln725Ter Multiple submitters RPGR-related disorder
- p.Gln793Ter Multiple submitters inherited retinal dystrophy
- p.Glu1004fs Multiple submitters RPGR-related disorder
- p.Glu1017Ter Multiple submitters inherited retinal dystrophy
- p.Glu1024Ter Multiple submitters inherited retinal dystrophy
- p.Glu1026fs Multiple submitters inherited retinal dystrophy
- p.Glu104Ter Multiple submitters RPGR-related disorder
- p.Glu1054Ter Multiple submitters primary ciliary dyskinesia
- p.Glu1066fs Multiple submitters RPGR-related disorder
- p.Glu125fs Multiple submitters RPGR-related disorder
- p.Glu290fs Multiple submitters RPGR-related disorder
- p.Glu687fs Multiple submitters retinitis pigmentosa
- p.Glu695Ter Multiple submitters RPGR-related disorder
- p.Glu716Ter Multiple submitters inherited retinal dystrophy
- p.Glu739Ter Multiple submitters primary ciliary dyskinesia
- p.Glu750fs Multiple submitters primary ciliary dyskinesia
- p.Glu762fs Multiple submitters RPGR-related disorder
- p.Glu806fs Multiple submitters primary ciliary dyskinesia
- p.Glu834fs Multiple submitters primary ciliary dyskinesia
- p.Glu837Ter Multiple submitters primary ciliary dyskinesia
- p.Glu844Ter Multiple submitters RPGR-related disorder
- p.Glu850fs Multiple submitters primary ciliary dyskinesia
- p.Glu850Ter Multiple submitters
- p.Glu855fs Multiple submitters RPGR-related disorder
- p.Glu868fs Multiple submitters inherited retinal dystrophy
- p.Glu879fs Multiple submitters RPGR-related disorder
- p.Glu881Ter Multiple submitters RPGR-related disorder
- p.Glu882Ter Multiple submitters primary ciliary dyskinesia
- p.Glu889Ter Multiple submitters primary ciliary dyskinesia
- p.Glu967fs Multiple submitters RPGR-related disorder
- p.Glu973Ter Multiple submitters primary ciliary dyskinesia
- p.Glu980fs Multiple submitters primary ciliary dyskinesia
- p.Glu989Ter Multiple submitters RPGR-related disorder
- p.Gly1003fs Multiple submitters primary ciliary dyskinesia
- p.Gly112Asp Multiple submitters primary ciliary dyskinesia
- p.Gly112Ser Multiple submitters primary ciliary dyskinesia
- p.Gly28fs Multiple submitters primary ciliary dyskinesia
- p.Gly52Ter Multiple submitters RPGR-related disorder
- p.Gly738Ter Multiple submitters RPGR-related disorder
- p.Gly805fs Multiple submitters RPGR-related disorder
- p.Gly824Ter Multiple submitters retinitis pigmentosa 3
- p.Leu406fs Multiple submitters RPGR-related disorder
- p.Lys352fs Multiple submitters
- p.Lys642fs Multiple submitters primary ciliary dyskinesia
- p.Lys823Ter Multiple submitters inherited retinal dystrophy
- p.Phe130fs Multiple submitters inherited retinal dystrophy
- p.Ser407Ter Multiple submitters primary ciliary dyskinesia
- p.Trp194Ter Multiple submitters RPGR-related disorder
- p.Trp702Ter Multiple submitters primary ciliary dyskinesia
- c.1059+2T>C Single submitter RPGR-related disorder
- c.1245+1G>T Single submitter primary ciliary dyskinesia
- c.1245+2T>C Single submitter primary ciliary dyskinesia
- c.1246-2A>C Single submitter
- c.1506+1G>A Single submitter RPGR-related disorder
- c.155-1G>A Single submitter RPGR-related disorder
- c.1754-15_1754-5del Single submitter retinitis pigmentosa
- c.247+2T>C Single submitter primary ciliary dyskinesia
- c.248-1G>A Single submitter primary ciliary dyskinesia
- c.248-1G>T Single submitter primary ciliary dyskinesia
- c.248-2A>G Single submitter retinitis pigmentosa
- c.301_310+3del Single submitter RPGR-related disorder
- c.470-2A>G Single submitter primary ciliary dyskinesia
- c.470-73_619+1581del Single submitter retinitis pigmentosa 3
- c.619+2T>G Single submitter retinitis pigmentosa 3
- c.778+1G>C Single submitter RPGR-related disorder
- c.778+5G>A Single submitter RPGR-related disorder
- c.779-2A>G Single submitter retinitis pigmentosa 3
- c.934+1G>T Single submitter RPGR-related disorder
- c.934+2T>C Single submitter retinitis pigmentosa 3
- c.935-2del Single submitter RPGR-related disorder
- p.Ala249fs Single submitter retinitis pigmentosa 3
- p.Ala355fs Single submitter primary ciliary dyskinesia
- p.Ala372fs Single submitter RPGR-related disorder
- p.Ala439fs Single submitter primary ciliary dyskinesia
- p.Ala781fs Single submitter RPGR-related disorder
- p.Arg1056fs Single submitter primary ciliary dyskinesia
- p.Arg1059fs Single submitter retinitis pigmentosa
- p.Arg1128Ter Single submitter primary ciliary dyskinesia
- p.Arg127fs Single submitter
- p.Arg417fs Single submitter primary ciliary dyskinesia
- p.Arg723Ter Single submitter primary ciliary dyskinesia
- p.Asn179fs Single submitter primary ciliary dyskinesia
- p.Asn34_Asp35insTer Single submitter primary ciliary dyskinesia
- p.Asn612fs Single submitter
- p.Asn62Ter Single submitter primary ciliary dyskinesia
- p.Asp744fs Single submitter primary ciliary dyskinesia
- p.Cys302fs Single submitter retinitis pigmentosa
- p.Cys440fs Single submitter RPGR-related disorder
- p.Cys94fs Single submitter primary ciliary dyskinesia
- p.Gln1080fs Single submitter primary ciliary dyskinesia
- p.Gln184Ter Single submitter primary ciliary dyskinesia
- p.Gln236fs Single submitter
- p.Gln247Ter Single submitter primary ciliary dyskinesia
- p.Gln273Ter Single submitter retinal disorder
- p.Gln403fs Single submitter primary ciliary dyskinesia
- p.Gln527Ter Single submitter primary ciliary dyskinesia
- p.Gln604Ter Single submitter primary ciliary dyskinesia
- p.Gln710Ter Single submitter primary ciliary dyskinesia
- p.Gln717delinsArgArgAsnTer Single submitter retinitis pigmentosa 3
- p.Glu1014fs Single submitter primary ciliary dyskinesia
- p.Glu1017fs Single submitter
- p.Glu1028Ter Single submitter primary ciliary dyskinesia
- p.Glu1036fs Single submitter primary ciliary dyskinesia
- p.Glu1037fs Single submitter RPGR-related disorder
- p.Glu1040fs Single submitter primary ciliary dyskinesia
- p.Glu1045fs Single submitter inherited retinal dystrophy
- p.Glu1045Ter Single submitter primary ciliary dyskinesia
- p.Glu1074Ter Single submitter primary ciliary dyskinesia
- p.Glu1083fs Single submitter primary ciliary dyskinesia
- p.Glu1084Ter Single submitter primary ciliary dyskinesia
- p.Glu1117fs Single submitter primary ciliary dyskinesia
- p.Glu139Ter Single submitter retinitis pigmentosa 3
- p.Glu282Ter Single submitter retinitis pigmentosa 3
- p.Glu416fs Single submitter primary ciliary dyskinesia
- p.Glu457fs Single submitter primary ciliary dyskinesia
- p.Glu531Ter Single submitter primary ciliary dyskinesia
- p.Glu540fs Single submitter primary ciliary dyskinesia
- p.Glu577fs Single submitter primary ciliary dyskinesia
- p.Glu589Ter Single submitter inherited retinal dystrophy
- p.Glu607fs Single submitter primary ciliary dyskinesia
- p.Glu675Ter Single submitter retinitis pigmentosa
- p.Glu678Ter Single submitter RPGR-related disorder
- p.Glu700fs Single submitter RPGR-related disorder
- p.Glu701_Trp702insTer Single submitter RPGR-related disorder
- p.Glu708Gly Single submitter retinitis pigmentosa
- p.Glu714fs Single submitter primary ciliary dyskinesia
- p.Glu729Ter Single submitter retinitis pigmentosa
- p.Glu734Ter Single submitter
- p.Glu740fs Single submitter primary ciliary dyskinesia
- p.Glu741fs Single submitter primary ciliary dyskinesia
- p.Glu742fs Single submitter
- p.Glu749fs Single submitter
- p.Glu760Ter Single submitter primary ciliary dyskinesia
- p.Glu762Ter Single submitter primary ciliary dyskinesia
- p.Glu765fs Single submitter primary ciliary dyskinesia
- p.Glu765Ter Single submitter primary ciliary dyskinesia
- p.Glu767fs Single submitter primary ciliary dyskinesia
- p.Glu769Ter Single submitter RPGR-related disorder
- p.Glu771fs Single submitter primary ciliary dyskinesia
- p.Glu774Ter Single submitter primary ciliary dyskinesia
- p.Glu778fs Single submitter primary ciliary dyskinesia
- p.Glu778Ter Single submitter primary ciliary dyskinesia
- p.Glu779fs Single submitter primary ciliary dyskinesia
- p.Glu795fs Single submitter primary ciliary dyskinesia
- p.Glu809Ter Single submitter RPGR-related disorder
- p.Glu813fs Single submitter primary ciliary dyskinesia
- p.Glu821Ter Single submitter retinitis pigmentosa
- p.Glu828fs Single submitter primary ciliary dyskinesia
- p.Glu829Ter Single submitter primary ciliary dyskinesia
- p.Glu832fs Single submitter primary ciliary dyskinesia
- p.Glu838fs Single submitter X-linked cone-rod dystrophy 1
- p.Glu841fs Single submitter inherited retinal dystrophy
- p.Glu843fs Single submitter retinitis pigmentosa 3
- p.Glu851Ter Single submitter RPGR-related disorder
- p.Glu859fs Single submitter primary ciliary dyskinesia
- p.Glu864Ter Single submitter
- p.Glu872fs Single submitter retinitis pigmentosa 3
- p.Glu872Ter Single submitter primary ciliary dyskinesia
- p.Glu873Ter Single submitter primary ciliary dyskinesia
- p.Glu886fs Single submitter RPGR-related disorder
- p.Glu897Ter Single submitter
- p.Glu907Ter Single submitter primary ciliary dyskinesia
- p.Glu915fs Single submitter primary ciliary dyskinesia
- p.Glu915Ter Single submitter
- p.Glu918Ter Single submitter primary ciliary dyskinesia
- p.Glu922Ter Single submitter primary ciliary dyskinesia
- p.Glu929fs Single submitter
- p.Glu933fs Single submitter RPGR-related disorder
- p.Glu935Ter Single submitter primary ciliary dyskinesia
- p.Glu936fs Single submitter primary ciliary dyskinesia
- p.Glu942fs Single submitter primary ciliary dyskinesia
- p.Glu949Ter Single submitter primary ciliary dyskinesia
- p.Glu950fs Single submitter primary ciliary dyskinesia
- p.Glu950Ter Single submitter
- p.Glu952fs Single submitter primary ciliary dyskinesia
- p.Glu952Ter Single submitter primary ciliary dyskinesia
- p.Glu958Ter Single submitter inherited retinal dystrophy
- p.Glu959fs Single submitter primary ciliary dyskinesia
- p.Glu968fs Single submitter primary ciliary dyskinesia
- p.Glu971fs Single submitter primary ciliary dyskinesia
- p.Glu975fs Single submitter primary ciliary dyskinesia
- p.Glu985Ter Single submitter primary ciliary dyskinesia
- p.Glu998Ter Single submitter primary ciliary dyskinesia
- p.Gly1003Ter Single submitter primary ciliary dyskinesia
- p.Gly1011fs Single submitter X-linked cone-rod dystrophy 1
- p.Gly1039fs Single submitter primary ciliary dyskinesia
- p.Gly112fs Single submitter primary ciliary dyskinesia
- p.Gly117fs Single submitter primary ciliary dyskinesia
- p.Gly117Glu Single submitter primary ciliary dyskinesia
- p.Gly148Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gly215Glu Single submitter primary ciliary dyskinesia
- p.Gly272Val Single submitter primary ciliary dyskinesia
- p.Gly303Ter Single submitter retinitis pigmentosa
- p.Gly370fs Single submitter primary ciliary dyskinesia
- p.Gly645fs Single submitter
- p.Gly653fs Single submitter primary ciliary dyskinesia
Pathogenic/Likely pathogenic 82
- c.247+1G>A Multiple submitters RPGR-related disorder
- c.248-10A>G Multiple submitters RPGR-related disorder
- c.29-1G>T Multiple submitters RPGR-related disorder
- c.29-2A>G Multiple submitters retinitis pigmentosa 3
- c.470-1G>A Multiple submitters RPGR-related disorder
- c.619+2T>C Multiple submitters primary ciliary dyskinesia
- c.778+1G>A Multiple submitters primary ciliary dyskinesia
- p.Ala110fs Multiple submitters RPGR-related disorder
- p.Ala74fs Multiple submitters RPGR-related disorder
- p.Arg409fs Multiple submitters X-linked cone-rod dystrophy 1
- p.Arg745fs Multiple submitters retinitis pigmentosa
- p.Arg804fs Multiple submitters inherited retinal dystrophy
- p.Arg804Ter Multiple submitters retinitis pigmentosa
- p.Arg826fs Multiple submitters inherited retinal dystrophy
- p.Asn1077fs Multiple submitters RPGR-related disorder
- p.Asp628fs Multiple submitters RPGR-related disorder
- p.Asp680fs Multiple submitters retinitis pigmentosa
- p.Cys250Tyr Multiple submitters RPGR-related disorder
- p.Cys356Ter Multiple submitters primary ciliary dyskinesia
- p.Gln144Ter Multiple submitters RPGR-related disorder
- p.Gln523Ter Multiple submitters inherited retinal dystrophy
- p.Glu1004Ter Multiple submitters primary ciliary dyskinesia
- p.Glu1006fs Multiple submitters RPGR-related disorder
- p.Glu1037Ter Multiple submitters inherited retinal dystrophy
- p.Glu1060fs Multiple submitters primary ciliary dyskinesia
- p.Glu1062Ter Multiple submitters retinitis pigmentosa 3
- p.Glu1084_Tyr1085insTer Multiple submitters primary ciliary dyskinesia
- p.Glu169Ter Multiple submitters RPGR-related disorder
- p.Glu240Ter Multiple submitters RPGR-related disorder
- p.Glu376Ter Multiple submitters RPGR-related disorder
- p.Glu379Ter Multiple submitters inherited retinal dystrophy
- p.Glu45Ter Multiple submitters retinitis pigmentosa
- p.Glu512Ter Multiple submitters primary ciliary dyskinesia
- p.Glu687Ter Multiple submitters primary ciliary dyskinesia
- p.Glu691fs Multiple submitters primary ciliary dyskinesia
- p.Glu691Ter Multiple submitters primary ciliary dyskinesia
- p.Glu746fs Multiple submitters retinitis pigmentosa 3
- p.Glu774fs Multiple submitters inherited retinal dystrophy
- p.Glu788fs Multiple submitters retinitis pigmentosa 3
- p.Glu797fs Multiple submitters primary ciliary dyskinesia
- p.Glu806Ter Multiple submitters RPGR-related disorder
- p.Glu807Ter Multiple submitters inherited retinal dystrophy
- p.Glu813Ter Multiple submitters RPGR-related disorder
- p.Glu818_Val819insTer Multiple submitters
- p.Glu818Ter Multiple submitters RPGR-related disorder
- p.Glu820fs Multiple submitters primary ciliary dyskinesia
- p.Glu828Ter Multiple submitters retinitis pigmentosa 3
- p.Glu843Ter Multiple submitters primary ciliary dyskinesia
- p.Glu846fs Multiple submitters primary ciliary dyskinesia
- p.Glu848fs Multiple submitters RPGR-related disorder
- p.Glu869Ter Multiple submitters primary ciliary dyskinesia
- p.Glu875fs Multiple submitters RPGR-related disorder
- p.Glu877fs Multiple submitters RPGR-related disorder
- p.Glu898Ter Multiple submitters primary ciliary dyskinesia
- p.Glu903fs Multiple submitters primary ciliary dyskinesia
- p.Glu926fs Multiple submitters RPGR-related disorder
- p.Glu940fs Multiple submitters RPGR-related disorder
- p.Glu956fs Multiple submitters primary ciliary dyskinesia
- p.Glu958fs Multiple submitters Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
- p.Glu960Ter Multiple submitters RPGR-related disorder
- p.Glu963fs Multiple submitters retinitis pigmentosa
- p.Glu965fs Multiple submitters RPGR-related disorder
- p.Glu965Ter Multiple submitters RPGR-related disorder
- p.Glu973fs Multiple submitters retinitis pigmentosa 3
- p.Glu991fs Multiple submitters primary ciliary dyskinesia
- p.Glu998fs Multiple submitters RPGR-related disorder
- p.Gly65Asp Multiple submitters RPGR-related disorder
- p.Gly753Ter Multiple submitters retinitis pigmentosa 3
- p.Gly766fs Multiple submitters retinitis pigmentosa
- p.Gly816fs Multiple submitters retinitis pigmentosa
- p.Gly817fs Multiple submitters retinitis pigmentosa 3
- p.Gly883Ter Multiple submitters retinitis pigmentosa
- p.Gly953fs Multiple submitters primary ciliary dyskinesia
- p.Lys1105Ter Multiple submitters RPGR-related disorder
- p.Lys143Ter Multiple submitters primary ciliary dyskinesia
- p.Lys783fs Multiple submitters inherited retinal dystrophy
- p.Lys786fs Multiple submitters retinitis pigmentosa
- p.Lys85fs Multiple submitters RPGR-related disorder
- p.Phe319fs Multiple submitters RPGR-related disorder
- p.Ser596Ter Multiple submitters primary ciliary dyskinesia
- p.Tyr212Ter Multiple submitters RPGR-related disorder
- p.Val819fs Multiple submitters primary ciliary dyskinesia
Likely pathogenic 269
- c.1060-1G>A Expert panel RPGR-related retinopathy
- c.1572+1del Expert panel RPGR-related retinopathy
- c.1572+3A>G Expert panel RPGR-related retinopathy
- c.1573-12A>G Expert panel RPGR-related retinopathy
- c.1573-8A>G Expert panel RPGR-related retinopathy
- p.Ala308Pro Expert panel RPGR-related retinopathy
- p.Gln1125Ter Expert panel RPGR-related retinopathy
- p.Gln227Ter Expert panel RPGR-related retinopathy
- p.Glu1012fs Expert panel RPGR-related retinopathy
- p.Glu210Ter Expert panel RPGR-related retinopathy
- p.Glu546Ter Expert panel RPGR-related retinopathy
- p.Glu583Ter Expert panel RPGR-related retinopathy
- p.Glu701Ter Expert panel RPGR-related retinopathy
- p.Glu750Ter Expert panel RPGR-related retinopathy
- p.Glu758fs Expert panel RPGR-related retinopathy
- p.Glu947fs Expert panel RPGR-related retinopathy
- p.Gly12fs Expert panel RPGR-related retinopathy
- p.Gly165Val Expert panel RPGR-related retinopathy
- p.Gly173Arg Expert panel RPGR-related retinopathy
- p.Gly198Glu Expert panel RPGR-related retinopathy
- p.Gly215fs Expert panel RPGR-related retinopathy
- p.Gly275Arg Expert panel RPGR-related retinopathy
- p.Gly275Cys Expert panel RPGR-related retinopathy
- p.Gly275Val Expert panel RPGR-related retinopathy
- p.Gly357Asp Expert panel RPGR-related retinopathy
- p.Gly436Asp Expert panel RPGR-related retinopathy ⚠
- p.Gly60Ser Expert panel RPGR-related retinopathy
- p.Gly60Val Expert panel RPGR-related retinopathy
- p.Gly730Ter Expert panel RPGR-related retinopathy
- p.Gly95Glu Expert panel RPGR-related retinopathy
- p.Leu100fs Expert panel RPGR-related retinopathy
- p.Lys694Ter Expert panel RPGR-related retinopathy
- p.Pro1134fs Expert panel RPGR-related retinopathy
- p.Ser41Ter Expert panel RPGR-related retinopathy
- p.Ter1153Lys Expert panel RPGR-related retinopathy
- p.Ter1153Ser Expert panel RPGR-related retinopathy
- p.Thr103Ile Expert panel RPGR-related retinopathy ⚠
- p.Thr206Ile Expert panel RPGR-related retinopathy
- p.Thr383fs Expert panel RPGR-related retinopathy
- p.Thr99Ile Expert panel RPGR-related retinopathy ⚠
- p.Trp164Cys Expert panel RPGR-related retinopathy
- p.Trp64Ter Expert panel RPGR-related retinopathy
- p.Val38fs Expert panel RPGR-related retinopathy
- c.1245+1G>A Multiple submitters RPGR-related disorder
- c.619+2_619+5del Multiple submitters primary ciliary dyskinesia
- c.620-2A>G Multiple submitters Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
- p.Ala262fs Multiple submitters RPGR-related disorder
- p.Ala608fs Multiple submitters RPGR-related disorder
- p.Gln66Ter Multiple submitters retinitis pigmentosa 3
- p.Gln720Ter Multiple submitters inherited retinal dystrophy
- p.Glu757fs Multiple submitters inherited retinal dystrophy
- p.Glu795Ter Multiple submitters RPGR-related disorder
- p.His1100fs Multiple submitters macular degeneration, X-linked atrophic
- p.Ser551fs Multiple submitters RPGR-related disorder
- p.Thr1072fs Multiple submitters RPGR-related disorder
- p.Trp955Ter Multiple submitters RPGR-related disorder
- c.1059+2T>G Single submitter
- c.1060-2A>G Single submitter RPGR-related disorder
- c.1414+1G>A Single submitter primary ciliary dyskinesia
- c.1414+1G>C Single submitter primary ciliary dyskinesia
- c.1573-2del Single submitter inherited retinal dystrophy
- c.1753+2T>G Single submitter retinitis pigmentosa 3
- c.1754-214_1801del Single submitter primary ciliary dyskinesia
- c.29-2A>C Single submitter retinitis pigmentosa 3
- c.310+1_310+2insGGTGCTCAACCT Single submitter retinitis pigmentosa
- c.469_469+5del Single submitter retinitis pigmentosa 3
- c.778+1del Single submitter retinitis pigmentosa 3
- c.778+1G>T Single submitter
- p.Ala13fs Single submitter RPGR-related disorder
- p.Ala647fs Single submitter
- p.Ala83fs Single submitter
- p.Arg426Ter Single submitter X-linked RPGR-related disorders
- p.Arg688_Pro689insGlnGlyLysIleSerGlyArgSerArgGlyTrpAlaTerArg Single submitter RPGR-related disorder
- p.Arg688fs Single submitter retinitis pigmentosa
- p.Arg723fs Single submitter inherited retinal dystrophy
- p.Asn1132fs Single submitter primary ciliary dyskinesia
- p.Asn176fs Single submitter RPGR-related disorder
- p.Asn54Ter Single submitter
- p.Asn62Lys Single submitter RPGR-related disorder
- p.Asp123Val Single submitter RPGR-related disorder
- p.Asp158fs Single submitter RPGR-related disorder
- p.Asp44fs Single submitter RPGR-related disorder
- p.Asp498fs Single submitter RPGR-related disorder
- p.Asp649fs Single submitter RPGR-related disorder
- p.Asp792fs Single submitter X-linked RPGR-related disorders
- p.Cys181Ter Single submitter RPGR-related disorder
- p.Cys302Arg Single submitter RPGR-related disorder
- p.Cys384fs Single submitter RPGR-related disorder
- p.Cys94Arg Single submitter retinitis pigmentosa
- p.Gln1080Ter Single submitter retinitis pigmentosa 3
- p.Gln171Ter Single submitter RPGR-related disorder
- p.Gln295Ter Single submitter retinitis pigmentosa 6
- p.Gln561Ter Single submitter RPGR-related disorder
- p.Gln565fs Single submitter RPGR-related disorder
- p.Gln571Ter Single submitter RPGR-related disorder
- p.Gln670fs Single submitter retinitis pigmentosa 3
- p.Gln720fs Single submitter
- p.Glu1015Ter Single submitter RPGR-related disorder
- p.Glu1016fs Single submitter X-linked cone-rod dystrophy 1
- p.Glu1024fs Single submitter RPGR-related disorder
- p.Glu1028fs Single submitter
- p.Glu1031fs Single submitter RPGR-related disorder
- p.Glu1033fs Single submitter retinitis pigmentosa 3
- p.Glu1051Ter Single submitter X-linked cone-rod dystrophy 1
- p.Glu1064Ter Single submitter RPGR-related disorder
- p.Glu1066_Gly1067insTerGlu Single submitter retinal disorder
- p.Glu1071Ter Single submitter
- p.Glu1075fs Single submitter retinitis pigmentosa 3
- p.Glu1078Ter Single submitter RPGR-related disorder
- p.Glu218_Asn219del Single submitter RPGR-related disorder
- p.Glu548Ter Single submitter inherited retinal dystrophy
- p.Glu555fs Single submitter RPGR-related disorder
- p.Glu555Ter Single submitter RPGR-related disorder
- p.Glu594Ter Single submitter RPGR-related disorder
- p.Glu603fs Single submitter inherited retinal dystrophy
- p.Glu605Ter Single submitter retinitis pigmentosa 3
- p.Glu695fs Single submitter
- p.Glu709Ter Single submitter inherited retinal dystrophy
- p.Glu711Ter Single submitter RPGR-related disorder
- p.Glu714Ter Single submitter retinitis pigmentosa 3
- p.Glu722Ter Single submitter RPGR-related disorder
- p.Glu732fs Single submitter
- p.Glu741Ter Single submitter
- p.Glu742Ter Single submitter retinitis pigmentosa 3
- p.Glu747fs Single submitter
- p.Glu784fs Single submitter
- p.Glu789Ter Single submitter RPGR-related disorder
- p.Glu809fs Single submitter
- p.Glu813_Val814insTer Single submitter RPGR-related disorder
- p.Glu818fs Single submitter retinitis pigmentosa 3
- p.Glu821fs Single submitter RPGR-related disorder
- p.Glu825fs Single submitter retinitis pigmentosa
- p.Glu827fs Single submitter retinitis pigmentosa 3
- p.Glu830Ter Single submitter RPGR-related disorder
- p.Glu836fs Single submitter retinitis pigmentosa
- p.Glu845fs Single submitter RPGR-related disorder
- p.Glu848Ter Single submitter RPGR-related disorder
- p.Glu852fs Single submitter RPGR-related disorder
- p.Glu860Ter Single submitter RPGR-related disorder
- p.Glu869fs Single submitter RPGR-related disorder
- p.Glu870Ter Single submitter RPGR-related disorder
- p.Glu884fs Single submitter RPGR-related disorder
- p.Glu890fs Single submitter retinitis pigmentosa 3
- p.Glu894Ter Single submitter RPGR-related disorder
- p.Glu909Ter Single submitter
- p.Glu911Ter Single submitter RPGR-related disorder
- p.Glu929Ter Single submitter
- p.Glu933Ter Single submitter retinitis pigmentosa 3
- p.Glu949fs Single submitter RPGR-related disorder
- p.Glu971Ter Single submitter
- p.Glu987fs Single submitter RPGR-related disorder
- p.Gly1032fs Single submitter retinitis pigmentosa 3
- p.Gly1067fs Single submitter retinal disorder
- p.Gly1113Ter Single submitter RPGR-related disorder
- p.Gly117Val Single submitter retinitis pigmentosa 3
- p.Gly122fs Single submitter
- p.Gly148Ter Single submitter RPGR-related retinopathy
- p.Gly165_Asp166insTer Single submitter RPGR-related disorder
- p.Gly165Ala Single submitter RPGR-related disorder
- p.Gly170Arg Single submitter RPGR-related disorder
- p.Gly215Arg Single submitter primary ciliary dyskinesia
- p.Gly215Val Single submitter inherited retinal dystrophy
- p.Gly267Arg Single submitter
- p.Gly267Glu Single submitter primary ciliary dyskinesia
- p.Gly267Val Single submitter primary ciliary dyskinesia
- p.Gly272Asp Single submitter primary ciliary dyskinesia
- p.Gly272Cys Single submitter primary ciliary dyskinesia
- p.Gly275Asp Single submitter primary ciliary dyskinesia
- p.Gly60Ala Single submitter primary ciliary dyskinesia
- p.Gly662fs Single submitter
- p.Gly68Val Single submitter RPGR-related disorder
- p.Gly718fs Single submitter inherited retinal dystrophy
- p.Gly773fs Single submitter inherited retinal dystrophy
- p.Gly856fs Single submitter retinitis pigmentosa
- p.Gly900Ter Single submitter RPGR-related disorder
- p.Gly928fs Single submitter RPGR-related disorder
- p.Gly937fs Single submitter retinitis pigmentosa 3
- p.Gly970fs Single submitter retinitis pigmentosa
- p.Gly990fs Single submitter retinitis pigmentosa 3
- p.His39fs Single submitter retinitis pigmentosa
- p.His668fs Single submitter inherited retinal dystrophy
- p.His98Arg Single submitter RPGR-related disorder
- p.Ile133fs Single submitter RPGR-related disorder
- p.Ile339fs Single submitter
- p.Ile350Val Single submitter inherited retinal dystrophy ⚠
- p.Ile576fs Single submitter inherited retinal dystrophy
- p.Leu161Arg Single submitter primary ciliary dyskinesia
- p.Leu309Ter Single submitter RPGR-related disorder
- p.Leu347fs Single submitter
- p.Leu391fs Single submitter RPGR-related disorder
- p.Leu40fs Single submitter
- p.Leu517fs Single submitter retinitis pigmentosa 3
- p.Leu69fs Single submitter retinitis pigmentosa 3
- p.Lys1048fs Single submitter RPGR-related disorder
- p.Lys1090_Ile1091insTer Single submitter RPGR-related disorder
- p.Lys190fs Single submitter RPGR-related disorder
- p.Lys221_Leu222insTer Single submitter retinitis pigmentosa 3
- p.Lys287fs Single submitter RPGR-related disorder
- p.Lys352Ter Single submitter RPGR-related disorder
- p.Lys513fs Single submitter RPGR-related disorder
- p.Lys516Ter Single submitter RPGR-related disorder
- p.Lys676fs Single submitter RPGR-related disorder
- p.Lys681fs Single submitter inherited retinal dystrophy
- p.Lys694fs Single submitter inherited retinal dystrophy
- p.Lys713fs Single submitter inherited retinal dystrophy
- p.Lys751Ter Single submitter inherited retinal dystrophy
- p.Lys776fs Single submitter RPGR-related disorder
- p.Lys857Ter Single submitter
- p.Lys88fs Single submitter retinitis pigmentosa
- p.Met316Lys Single submitter RPGR-related disorder
- p.Met58Lys Single submitter RPGR-related disorder
- p.Phe214_Gly215insTer Single submitter RPGR-related disorder
- p.Phe214fs Single submitter RPGR-related disorder
- p.Phe281fs Single submitter retinitis pigmentosa 3
- p.Phe346_Leu347insTer Single submitter inherited retinal dystrophy
- p.Pro430fs Single submitter retinitis pigmentosa 3
- p.Pro448fs Single submitter RPGR-related disorder
- p.Ser1135fs Single submitter RPGR-related disorder
- p.Ser152Leu Single submitter RPGR-related disorder
- p.Ser152Ter Single submitter RPGR-related disorder
- p.Ser487_Ser488insTer Single submitter RPGR-related disorder
- p.Ser507fs Single submitter
- p.Ser544Ter Single submitter RPGR-related disorder
- p.Ser627Ter Single submitter retinitis pigmentosa 3
- p.Ser783fs Single submitter
- p.Thr137fs Single submitter
- p.Thr151fs Single submitter RPGR-related disorder
- p.Thr296fs Single submitter RPGR-related disorder
- p.Thr574_Thr575insTer Single submitter inherited retinal dystrophy
- p.Thr631fs Single submitter retinitis pigmentosa 3
- p.Tyr1069fs Single submitter X-linked cone-rod dystrophy 1
- p.Tyr393Ter Single submitter RPGR-related disorder
- p.Tyr57fs Single submitter RPGR-related disorder
- p.Tyr57Ter Single submitter X-linked cone-rod dystrophy 1
- p.Val1021fs Single submitter RPGR-related disorder
- p.Val108del Single submitter RPGR-related disorder
- p.Val387fs Single submitter
- p.Val459fs Single submitter
- p.Val606fs Single submitter RPGR-related disorder
- p.Val615fs Single submitter
- p.Val636Met Single submitter RPGR-related disorder
- c.1059+1del No assertion criteria primary ciliary dyskinesia
- c.(310+1_311-1 No assertion criteria inherited retinal dystrophy
- c.311-21_311-9delinsG No assertion criteria inherited retinal dystrophy
- c.779-3C>A No assertion criteria retinitis pigmentosa
- p.Ala578fs No assertion criteria retinitis pigmentosa
- p.Arg413Ter No assertion criteria retinitis pigmentosa
- p.Arg753fs No assertion criteria retinitis pigmentosa
- p.Asn305fs No assertion criteria retinitis pigmentosa
- p.Asp632fs No assertion criteria retinitis pigmentosa
- p.Gln1070Ter No assertion criteria X-linked cone-rod dystrophy 1
- p.Glu414fs No assertion criteria retinitis pigmentosa
- p.Glu477Ter No assertion criteria retinitis pigmentosa
- p.Glu661Ter No assertion criteria retinitis pigmentosa
- p.Glu956Ter No assertion criteria retinitis pigmentosa 3
- p.Glu996fs No assertion criteria inherited retinal dystrophy
- p.Gly272fs No assertion criteria retinitis pigmentosa 3
- p.Gly60Cys No assertion criteria inherited retinal dystrophy
- p.Gly794fs No assertion criteria retinitis pigmentosa 3
- p.Ile529fs No assertion criteria X-linked cone-rod dystrophy
- p.Leu1130_Lys1131delinsTer No assertion criteria retinitis pigmentosa 3
- p.Leu1151Phe No assertion criteria Macular dystrophy
- p.Leu465fs No assertion criteria retinitis pigmentosa
- p.Lys751fs No assertion criteria retinitis pigmentosa
- p.Phe204_Val205insTer No assertion criteria inherited retinal dystrophy
- p.Ser298fs No assertion criteria retinitis pigmentosa
- p.Ser421fs No assertion criteria retinitis pigmentosa 3
- p.Tyr212fs No assertion criteria congenital stationary night blindness
- p.Val363fs No assertion criteria retinitis pigmentosa
Conflicting classifications of pathogenicity 101
- c.1059+9A>G Single submitter primary ciliary dyskinesia
- c.1246-17A>G Single submitter primary ciliary dyskinesia
- c.1414+5C>T Single submitter primary ciliary dyskinesia
- c.1415-9A>G Single submitter primary ciliary dyskinesia
- c.1507-9T>C Single submitter primary ciliary dyskinesia
- c.1754-2dup Single submitter RPGR-related disorder
- c.1754-9G>A Single submitter primary ciliary dyskinesia ⚠
- c.2241+5G>A Single submitter primary ciliary dyskinesia
- c.248-6T>A Single submitter RPGR-related disorder
- c.248-7T>C Single submitter primary ciliary dyskinesia
- c.311-1G>A Single submitter RPGR-related disorder
- c.469+4A>G Single submitter primary ciliary dyskinesia
- c.619+5G>A Single submitter X-linked cone-rod dystrophy 1
- c.619+5G>C Single submitter primary ciliary dyskinesia
- c.619+8A>G Single submitter primary ciliary dyskinesia
- p.883GEGEGEEE[1] Single submitter primary ciliary dyskinesia
- p.883GEGEGEEE[3] Single submitter primary ciliary dyskinesia
- p.886EGEEEGEGEGEEEEGEG[1] Single submitter primary ciliary dyskinesia
- p.890EGEGEGEEE[1] Single submitter primary ciliary dyskinesia
- p.900GEGEGEEE[3] Single submitter primary ciliary dyskinesia
- p.937GE[2] Single submitter primary ciliary dyskinesia
- p.979GEGEEEEGE[1] Single submitter primary ciliary dyskinesia
- p.Ala482Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala692Pro Single submitter primary ciliary dyskinesia ⚠
- p.Ala781Val Single submitter inherited retinal dystrophy
- p.Arg127Gly Single submitter inherited retinal dystrophy ⚠
- p.Arg425Gly Single submitter primary ciliary dyskinesia ⚠
- p.Arg768His Single submitter primary ciliary dyskinesia
- p.Asn1132Lys Single submitter primary ciliary dyskinesia
- p.Asn444Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asp382Val Single submitter primary ciliary dyskinesia ⚠
- p.Cys302Tyr Single submitter inherited retinal dystrophy ⚠
- p.Cys450Arg Single submitter retinitis pigmentosa 3 ⚠
- p.Gln118Arg Single submitter RPGR-related disorder ⚠
- p.Gln118Pro Single submitter RPGR-related disorder ⚠
- p.Gln521Glu Single submitter primary ciliary dyskinesia ⚠
- p.Gln66Arg Single submitter retinitis pigmentosa 3 ⚠
- p.Gln712Arg Single submitter primary ciliary dyskinesia
- p.Glu1004_Gly1005insGluGluGlyGlu Single submitter primary ciliary dyskinesia
- p.Glu1007_Glu1010del Single submitter primary ciliary dyskinesia
- p.Glu1028_Glu1029insValGluGlyGlu Single submitter primary ciliary dyskinesia
- p.Glu1042del Single submitter inherited retinal dystrophy
- p.Glu1074fs Single submitter RPGR-related retinopathy
- p.Glu1117Asp Single submitter primary ciliary dyskinesia
- p.Glu457Asp Single submitter primary ciliary dyskinesia ⚠
- p.Glu481Asp Single submitter primary ciliary dyskinesia ⚠
- p.Glu588Gly Single submitter primary ciliary dyskinesia ⚠
- p.Glu742del Single submitter primary ciliary dyskinesia
- p.Glu809= Single submitter inherited retinal dystrophy
- p.Glu827Ter Single submitter inherited retinal dystrophy
- p.Glu832del Single submitter macular degeneration, X-linked atrophic
- p.Glu863fs Single submitter retinitis pigmentosa 3
- p.Glu863Ter Single submitter retinitis pigmentosa 3
- p.Glu882del Single submitter primary ciliary dyskinesia
- p.Glu899del Single submitter primary ciliary dyskinesia
- p.Glu911_Gly919del Single submitter primary ciliary dyskinesia
- p.Glu934Gly Single submitter primary ciliary dyskinesia
- p.Glu936_Glu969del Single submitter primary ciliary dyskinesia
- p.Glu936del Single submitter primary ciliary dyskinesia
- p.Glu961del Single submitter primary ciliary dyskinesia
- p.Glu998del Single submitter primary ciliary dyskinesia
- p.Gly12= Single submitter primary ciliary dyskinesia
- p.Gly165Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gly251Asp Single submitter primary ciliary dyskinesia ⚠
- p.Gly494Val Single submitter primary ciliary dyskinesia ⚠
- p.Gly65Arg Single submitter RPGR-related disorder ⚠
- p.Gly787del Single submitter primary ciliary dyskinesia
- p.Gly803Glu Single submitter primary ciliary dyskinesia
- p.Gly822Glu Single submitter primary ciliary dyskinesia
- p.Gly865del Single submitter primary ciliary dyskinesia
- p.Gly876_Glu1020del Single submitter retinitis pigmentosa
- p.Gly893Val Single submitter primary ciliary dyskinesia
- p.Gly917del Single submitter primary ciliary dyskinesia
- p.Gly966= Single submitter primary ciliary dyskinesia
- p.His324= Single submitter inherited retinal dystrophy
- p.His735_Glu742del Single submitter X-linked cone-rod dystrophy 1
- p.Ile529Val Single submitter primary ciliary dyskinesia ⚠
- p.Ile576Val Single submitter primary ciliary dyskinesia ⚠
- p.Leu100Pro Single submitter RPGR-related disorder ⚠
- p.Leu119Ser Single submitter RPGR-related disorder ⚠
- p.Leu428Val Single submitter primary ciliary dyskinesia ⚠
- p.Leu500Phe Single submitter primary ciliary dyskinesia ⚠
- p.Lys244= Single submitter primary ciliary dyskinesia
- p.Phe377Leu Single submitter primary ciliary dyskinesia ⚠
- p.Phe390Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro392Leu Single submitter primary ciliary dyskinesia ⚠
- p.Pro419= Single submitter primary ciliary dyskinesia
- p.Pro768Leu Single submitter primary ciliary dyskinesia ⚠
- p.Thr103Lys Single submitter primary ciliary dyskinesia ⚠
- p.Thr16Ala Single submitter primary ciliary dyskinesia ⚠
- p.Thr255Ile Single submitter inherited retinal dystrophy ⚠
- p.Thr536Ile Single submitter primary ciliary dyskinesia ⚠
- p.Thr539Ile Single submitter primary ciliary dyskinesia ⚠
- p.Thr570Ala Single submitter retinitis pigmentosa 3 ⚠
- p.Thr570Met Single submitter primary ciliary dyskinesia ⚠
- p.Trp955_Glu963del Single submitter primary ciliary dyskinesia
- p.Trp955Gly Single submitter primary ciliary dyskinesia
- p.Tyr547Phe Single submitter primary ciliary dyskinesia ⚠
- p.Tyr718His Single submitter primary ciliary dyskinesia ⚠
- p.Val1088fs Single submitter macular degeneration, X-linked atrophic
- p.Val362Ile Single submitter ⚠
Benign 103
- c.1059+6G>A Expert panel RPGR-related retinopathy
- c.1060-203G>A Expert panel RPGR-related retinopathy
- c.1414+1450C>G Expert panel RPGR-related retinopathy
- c.1507-101A>T Expert panel RPGR-related retinopathy
- c.1507-97T>C Expert panel RPGR-related retinopathy
- c.154+14T>C Expert panel RPGR-related retinopathy
- c.154+43A>G Expert panel RPGR-related retinopathy
- c.1572+11A>G Expert panel RPGR-related retinopathy
- c.1754-103C>T Expert panel RPGR-related retinopathy
- c.1754-104dup Expert panel RPGR-related retinopathy
- c.28+266dup Expert panel RPGR-related retinopathy
- c.310+167G>A Expert panel RPGR-related retinopathy
- c.778+84dup Expert panel RPGR-related retinopathy
- c.*125del Expert panel RPGR-related retinopathy
- c.*233A>C Expert panel RPGR-related retinopathy
- c.*72A>G Expert panel RPGR-related retinopathy
- p.1033EGEEE[1] Expert panel RPGR-related retinopathy
- p.860EEGEEGEGE[3] Expert panel RPGR-related retinopathy
- p.970GEGEGEE[3] Expert panel RPGR-related retinopathy
- p.989EGEEE[1] Expert panel RPGR-related retinopathy
- p.Ala262Gly Expert panel RPGR-related retinopathy
- p.Ala388Val Expert panel RPGR-related retinopathy
- p.Ala781Thr Expert panel RPGR-related retinopathy
- p.Arg425Lys Expert panel RPGR-related retinopathy
- p.Arg804Lys Expert panel RPGR-related retinopathy
- p.Asn1077Lys Expert panel RPGR-related retinopathy
- p.Asn107Ser Expert panel RPGR-related retinopathy
- p.Asn345Asp Expert panel RPGR-related retinopathy ⚠
- p.Asp943_Glu949dup Expert panel RPGR-related retinopathy
- p.Gln184His Expert panel RPGR-related retinopathy
- p.Gln456Arg Expert panel RPGR-related retinopathy
- p.Gln467Lys Expert panel RPGR-related retinopathy
- p.Glu414Gln Expert panel RPGR-related retinopathy
- p.Glu432Asp Expert panel RPGR-related retinopathy
- p.Glu869_Glu873del Expert panel RPGR-related retinopathy
- p.Glu890del Expert panel RPGR-related retinopathy
- p.Glu936Asp Expert panel RPGR-related retinopathy
- p.Glu951_Glu952del Expert panel RPGR-related retinopathy
- p.Glu952Asp Expert panel RPGR-related retinopathy
- p.Gly1098Asp Expert panel RPGR-related retinopathy
- p.Gly1136Asp Expert panel RPGR-related retinopathy
- p.Gly566Glu Expert panel RPGR-related retinopathy
- p.Gly910Glu Expert panel RPGR-related retinopathy
- p.Ile289Val Expert panel RPGR-related retinopathy
- p.Ile431Val Expert panel RPGR-related retinopathy
- p.Ile75Val Expert panel RPGR-related retinopathy
- p.Lys1106Arg Expert panel RPGR-related retinopathy
- p.Lys1116= Expert panel RPGR-related retinopathy
- p.Met686Lys Expert panel RPGR-related retinopathy
- p.Ser47= Expert panel RPGR-related retinopathy
- p.Thr503Arg Expert panel RPGR-related retinopathy ⚠
- p.Thr51= Expert panel RPGR-related retinopathy
- p.Thr533Met Expert panel RPGR-related retinopathy
- p.Thr574Met Expert panel RPGR-related retinopathy
- p.Val1124Asp Expert panel RPGR-related retinopathy
- p.Val1144Ile Expert panel RPGR-related retinopathy
- p.Val132Ile Expert panel RPGR-related retinopathy
- c.1059+25T>C Multiple submitters
- c.1059+67A>G Multiple submitters
- c.1245+16A>G Multiple submitters primary ciliary dyskinesia
- c.1414+127A>G Multiple submitters
- c.2149+46C>T Multiple submitters retinitis pigmentosa 3
- c.2150-266T>A Multiple submitters
- c.2241+11T>C Multiple submitters primary ciliary dyskinesia
- c.2242-105G>A Multiple submitters
- c.247+37A>C Multiple submitters
- c.29-15G>A Multiple submitters primary ciliary dyskinesia
- c.469+115A>G Multiple submitters
- c.469+63C>T Multiple submitters
- c.620-105G>C Multiple submitters
- c.935-71G>A Multiple submitters
- p.Ala388= Multiple submitters primary ciliary dyskinesia
- p.Asn1132= Multiple submitters inherited retinal dystrophy
- p.Glu741= Multiple submitters inherited retinal dystrophy
- p.Gly1039del Multiple submitters primary ciliary dyskinesia
- p.Gly1073= Multiple submitters inherited retinal dystrophy
- p.Pro768Thr Multiple submitters primary ciliary dyskinesia
- p.Val1088= Multiple submitters primary ciliary dyskinesia
- c.1059+409T>C Single submitter
- c.1059+587T>C Single submitter
- c.1414+1155G>A Single submitter
- c.1414+1428A>G Single submitter
- c.1507-103_1507-100del Single submitter
- c.1507-12del Single submitter primary ciliary dyskinesia
- c.1753+236G>C Single submitter
- c.1906-130G>A Single submitter
- c.1906-137T>A Single submitter
- c.1906-8del Single submitter primary ciliary dyskinesia
- c.2091+114ACATGAAT[3] Single submitter
- c.2149+247A>G Single submitter
- c.2150-165T>G Single submitter
- c.2242-6dup Single submitter primary ciliary dyskinesia
- c.247+205C>T Single submitter
- c.310+270C>T Single submitter
- c.469+293_469+298del Single submitter
- c.619+308T>G Single submitter
- c.619+6A>G Single submitter primary ciliary dyskinesia
- c.935-277T>C Single submitter
- c.*62_*68del Single submitter
- p.Ala366= Single submitter primary ciliary dyskinesia
- p.Glu984_Glu985del Single submitter primary ciliary dyskinesia
- p.Lys525= Single submitter primary ciliary dyskinesia
- p.Glu889= No assertion criteria optic atrophy
Benign/Likely benign 28
- c.1415-17C>G Multiple submitters primary ciliary dyskinesia
- c.1754-10C>G Multiple submitters primary ciliary dyskinesia
- c.2242-8T>C Multiple submitters primary ciliary dyskinesia
- c.310+10T>C Multiple submitters primary ciliary dyskinesia
- c.620-41T>C Multiple submitters
- c.778+13T>A Multiple submitters primary ciliary dyskinesia
- p.1021_1024VEGE[1] Multiple submitters primary ciliary dyskinesia
- p.1021VEGE[1] Multiple submitters inherited retinal dystrophy
- p.829EEEEGEG[3] Multiple submitters primary ciliary dyskinesia
- p.Ala74= Multiple submitters primary ciliary dyskinesia
- p.Asp636Tyr Multiple submitters primary ciliary dyskinesia
- p.Asp789Asn Multiple submitters primary ciliary dyskinesia
- p.Cys302Ser Multiple submitters primary ciliary dyskinesia
- p.Gln527del Multiple submitters primary ciliary dyskinesia
- p.Glu1018del Multiple submitters primary ciliary dyskinesia
- p.Glu779del Multiple submitters primary ciliary dyskinesia
- p.Glu846_Glu853del Multiple submitters primary ciliary dyskinesia
- p.Glu951= Multiple submitters primary ciliary dyskinesia
- p.Gly878= Multiple submitters primary ciliary dyskinesia
- p.Ile576= Multiple submitters primary ciliary dyskinesia
- p.Ile775Thr Multiple submitters primary ciliary dyskinesia
- p.Ile775Val Multiple submitters primary ciliary dyskinesia
- p.Leu645= Multiple submitters primary ciliary dyskinesia
- p.Lys716Glu Multiple submitters primary ciliary dyskinesia
- p.Pro1134= Multiple submitters primary ciliary dyskinesia
- p.Ser756Leu Multiple submitters primary ciliary dyskinesia
- p.Thr536= Multiple submitters primary ciliary dyskinesia
- p.Thr570= Multiple submitters primary ciliary dyskinesia
Likely benign 329
Showing the top 300 by review status; the full set is in the sitemap.
- c.1245+6A>G Expert panel RPGR-related retinopathy
- c.311-4G>A Expert panel RPGR-related retinopathy
- c.470-19C>T Expert panel RPGR-related retinopathy
- p.Ala13= Expert panel RPGR-related retinopathy
- p.Arg369Cys Expert panel RPGR-related retinopathy
- p.Asp10Glu Expert panel RPGR-related retinopathy
- p.Glu139Lys Expert panel RPGR-related retinopathy
- p.Glu863= Expert panel RPGR-related retinopathy
- p.Glu869Gly Expert panel RPGR-related retinopathy
- p.Glu969del Expert panel RPGR-related retinopathy
- p.Gly148= Expert panel RPGR-related retinopathy
- p.Gly895= Expert panel RPGR-related retinopathy
- p.Gly977Val Expert panel RPGR-related retinopathy
- p.Ile567Phe Expert panel RPGR-related retinopathy
- p.Leu1151= Expert panel RPGR-related retinopathy
- p.Lys1106Thr Expert panel RPGR-related retinopathy
- p.Pro217Ser Expert panel RPGR-related retinopathy
- p.Pro367Ala Expert panel RPGR-related retinopathy ⚠
- p.Val401Ile Expert panel RPGR-related retinopathy
- c.1245+7T>C Multiple submitters primary ciliary dyskinesia
- c.1414+66T>C Multiple submitters
- c.1414+9T>C Multiple submitters primary ciliary dyskinesia
- c.1507-18A>G Multiple submitters primary ciliary dyskinesia
- c.154+11C>A Multiple submitters primary ciliary dyskinesia
- c.155-10C>T Multiple submitters primary ciliary dyskinesia
- c.1572+9T>C Multiple submitters primary ciliary dyskinesia
- c.1754-10C>T Multiple submitters primary ciliary dyskinesia
- c.619+12T>A Multiple submitters primary ciliary dyskinesia
- c.620-5A>G Multiple submitters primary ciliary dyskinesia
- c.779-16G>T Multiple submitters primary ciliary dyskinesia
- c.934+92G>C Multiple submitters
- p.811GGEVE[1] Multiple submitters primary ciliary dyskinesia
- p.829EEEEGEG[5] Multiple submitters primary ciliary dyskinesia
- p.860EEGEEGEGE[1] Multiple submitters primary ciliary dyskinesia
- p.866EGEE[1] Multiple submitters primary ciliary dyskinesia
- p.Ala365= Multiple submitters primary ciliary dyskinesia
- p.Ala701Thr Multiple submitters primary ciliary dyskinesia
- p.Ala781= Multiple submitters primary ciliary dyskinesia
- p.Asn400= Multiple submitters primary ciliary dyskinesia
- p.Asn687Ser Multiple submitters primary ciliary dyskinesia
- p.Asp724= Multiple submitters primary ciliary dyskinesia
- p.Asp943Glu Multiple submitters
- p.Glu139= Multiple submitters primary ciliary dyskinesia
- p.Glu452= Multiple submitters primary ciliary dyskinesia
- p.Glu685= Multiple submitters primary ciliary dyskinesia
- p.Glu740= Multiple submitters primary ciliary dyskinesia
- p.Glu767= Multiple submitters primary ciliary dyskinesia
- p.Glu795Asp Multiple submitters primary ciliary dyskinesia
- p.Glu832= Multiple submitters primary ciliary dyskinesia
- p.Glu839= Multiple submitters primary ciliary dyskinesia
- p.Glu852= Multiple submitters primary ciliary dyskinesia
- p.Glu855= Multiple submitters primary ciliary dyskinesia
- p.Glu916del Multiple submitters primary ciliary dyskinesia
- p.Glu931= Multiple submitters primary ciliary dyskinesia
- p.Glu947= Multiple submitters primary ciliary dyskinesia
- p.Glu965= Multiple submitters primary ciliary dyskinesia
- p.Glu968= Multiple submitters primary ciliary dyskinesia
- p.Glu980= Multiple submitters primary ciliary dyskinesia
- p.Glu982= Multiple submitters primary ciliary dyskinesia
- p.Glu992= Multiple submitters primary ciliary dyskinesia
- p.Gly1043= Multiple submitters primary ciliary dyskinesia
- p.Gly314= Multiple submitters primary ciliary dyskinesia
- p.Gly817= Multiple submitters primary ciliary dyskinesia
- p.Gly847= Multiple submitters primary ciliary dyskinesia
- p.Gly849= Multiple submitters primary ciliary dyskinesia
- p.Gly912= Multiple submitters
- p.Gly917= Multiple submitters primary ciliary dyskinesia
- p.Gly957= Multiple submitters primary ciliary dyskinesia
- p.Gly974= Multiple submitters primary ciliary dyskinesia
- p.Gly979= Multiple submitters primary ciliary dyskinesia
- p.Gly981= Multiple submitters primary ciliary dyskinesia
- p.His98= Multiple submitters primary ciliary dyskinesia
- p.Ile375= Multiple submitters primary ciliary dyskinesia
- p.Ile814= Multiple submitters primary ciliary dyskinesia
- p.Leu237= Multiple submitters primary ciliary dyskinesia
- p.Leu402= Multiple submitters primary ciliary dyskinesia
- p.Lys1068= Multiple submitters primary ciliary dyskinesia
- p.Lys777= Multiple submitters primary ciliary dyskinesia
- p.Phe377= Multiple submitters primary ciliary dyskinesia
- p.Pro242= Multiple submitters primary ciliary dyskinesia
- p.Pro286= Multiple submitters primary ciliary dyskinesia
- p.Pro392= Multiple submitters primary ciliary dyskinesia
- p.Pro587= Multiple submitters
- p.Pro689= Multiple submitters primary ciliary dyskinesia
- p.Pro768= Multiple submitters primary ciliary dyskinesia
- p.Ser168= Multiple submitters primary ciliary dyskinesia
- p.Ser418= Multiple submitters primary ciliary dyskinesia
- p.Thr151= Multiple submitters primary ciliary dyskinesia
- p.Thr533= Multiple submitters primary ciliary dyskinesia
- p.Thr574= Multiple submitters primary ciliary dyskinesia
- p.Thr658= Multiple submitters primary ciliary dyskinesia
- p.Thr813= Multiple submitters primary ciliary dyskinesia
- p.Tyr718= Multiple submitters primary ciliary dyskinesia
- p.Val563Met Multiple submitters primary ciliary dyskinesia
- c.1059+13C>T Single submitter primary ciliary dyskinesia
- c.1059+17del Single submitter primary ciliary dyskinesia
- c.1059+19C>T Single submitter primary ciliary dyskinesia
- c.1059+348C>T Single submitter
- c.1414+1170G>A Single submitter
- c.1414+1269T>C Single submitter
- c.1414+13A>G Single submitter primary ciliary dyskinesia
- c.1414+15T>C Single submitter primary ciliary dyskinesia
- c.1414+18G>C Single submitter primary ciliary dyskinesia
- c.1414+19_1414+22del Single submitter primary ciliary dyskinesia
- c.1415-240G>A Single submitter
- c.1415-7C>A Single submitter primary ciliary dyskinesia
- c.1415-9A>T Single submitter primary ciliary dyskinesia
- c.1506+140A>G Single submitter
- c.1506+16_1506+19del Single submitter primary ciliary dyskinesia
- c.1507-11A>G Single submitter primary ciliary dyskinesia
- c.1507-123TA[10] Single submitter
- c.1507-15T>G Single submitter primary ciliary dyskinesia
- c.1507-17T>A Single submitter primary ciliary dyskinesia
- c.1507-20A>G Single submitter primary ciliary dyskinesia
- c.154+11C>G Single submitter
- c.154+13A>G Single submitter primary ciliary dyskinesia
- c.155-13del Single submitter
- c.155-14T>C Single submitter primary ciliary dyskinesia
- c.1572+18A>G Single submitter primary ciliary dyskinesia
- c.1573-17C>T Single submitter primary ciliary dyskinesia
- c.1573-8A>T Single submitter primary ciliary dyskinesia
- c.1753+19T>C Single submitter primary ciliary dyskinesia
- c.1754-13G>C Single submitter primary ciliary dyskinesia
- c.2241+17_2241+18del Single submitter primary ciliary dyskinesia
- c.247+14T>C Single submitter primary ciliary dyskinesia
- c.247+16A>G Single submitter primary ciliary dyskinesia
- c.247+18C>T Single submitter primary ciliary dyskinesia
- c.247+235C>T Single submitter
- c.247+8A>G Single submitter primary ciliary dyskinesia
- c.248-19C>T Single submitter primary ciliary dyskinesia
- c.248-20C>T Single submitter primary ciliary dyskinesia
- c.248-8A>G Single submitter primary ciliary dyskinesia
- c.28+233A>C Single submitter
- c.28+280del Single submitter
- c.29-17C>A Single submitter primary ciliary dyskinesia
- c.29-99A>G Single submitter
- c.310+132A>G Single submitter
- c.310+13A>G Single submitter primary ciliary dyskinesia
- c.310+20T>C Single submitter primary ciliary dyskinesia
- c.311-10C>A Single submitter primary ciliary dyskinesia
- c.311-20G>A Single submitter primary ciliary dyskinesia
- c.311-6G>A Single submitter primary ciliary dyskinesia
- c.311-7T>C Single submitter primary ciliary dyskinesia
- c.311-8A>G Single submitter primary ciliary dyskinesia
- c.469+10G>T Single submitter
- c.469+13del Single submitter primary ciliary dyskinesia
- c.469+14C>A Single submitter primary ciliary dyskinesia
- c.469+18T>C Single submitter primary ciliary dyskinesia
- c.619+10A>G Single submitter primary ciliary dyskinesia
- c.619+11T>C Single submitter primary ciliary dyskinesia
- c.619+18G>A Single submitter primary ciliary dyskinesia
- c.619+18G>C Single submitter
- c.619+19T>A Single submitter primary ciliary dyskinesia
- c.619+7C>T Single submitter primary ciliary dyskinesia
- c.620-16A>G Single submitter primary ciliary dyskinesia
- c.620-17T>C Single submitter primary ciliary dyskinesia
- c.620-19T>C Single submitter primary ciliary dyskinesia
- c.620-6C>T Single submitter primary ciliary dyskinesia
- c.778+11A>G Single submitter primary ciliary dyskinesia
- c.778+16A>G Single submitter primary ciliary dyskinesia
- c.778+7G>A Single submitter primary ciliary dyskinesia
- c.779-7C>G Single submitter primary ciliary dyskinesia
- c.934+11G>A Single submitter primary ciliary dyskinesia
- c.934+17_934+18del Single submitter
- c.934+6G>T Single submitter
- c.934+7A>G Single submitter primary ciliary dyskinesia
- c.935-125A>G Single submitter
- c.*20G>A Single submitter
- c.*986A>G Single submitter
- p.Ala154= Single submitter primary ciliary dyskinesia
- p.Ala262= Single submitter
- p.Ala355= Single submitter primary ciliary dyskinesia
- p.Ala558= Single submitter
- p.Ala578= Single submitter primary ciliary dyskinesia
- p.Ala578Pro Single submitter primary ciliary dyskinesia
- p.Ala641Pro Single submitter primary ciliary dyskinesia
- p.Arg1119= Single submitter
- p.Arg1128= Single submitter primary ciliary dyskinesia
- p.Arg323= Single submitter primary ciliary dyskinesia
- p.Arg369Gly Single submitter primary ciliary dyskinesia
- p.Arg369His Single submitter primary ciliary dyskinesia
- p.Arg411= Single submitter primary ciliary dyskinesia
- p.Arg417= Single submitter primary ciliary dyskinesia
- p.Arg449Gln Single submitter primary ciliary dyskinesia
- p.Asn176= Single submitter primary ciliary dyskinesia
- p.Asn226Ser Single submitter primary ciliary dyskinesia
- p.Asn291Ser Single submitter primary ciliary dyskinesia
- p.Asn541= Single submitter
- p.Asp595Val Single submitter primary ciliary dyskinesia
- p.Asp680= Single submitter primary ciliary dyskinesia
- p.Cys250= Single submitter primary ciliary dyskinesia
- p.Gln565= Single submitter primary ciliary dyskinesia
- p.Gln725= Single submitter primary ciliary dyskinesia
- p.Glu1000= Single submitter
- p.Glu1006= Single submitter primary ciliary dyskinesia
- p.Glu1012Gly Single submitter
- p.Glu1020= Single submitter
- p.Glu1026Lys Single submitter
- p.Glu1037= Single submitter
- p.Glu1040= Single submitter primary ciliary dyskinesia
- p.Glu1041= Single submitter
- p.Glu1045del Single submitter
- p.Glu1062= Single submitter
- p.Glu125Lys Single submitter primary ciliary dyskinesia
- p.Glu282= Single submitter primary ciliary dyskinesia
- p.Glu481Ala Single submitter primary ciliary dyskinesia
- p.Glu582= Single submitter primary ciliary dyskinesia
- p.Glu605= Single submitter primary ciliary dyskinesia
- p.Glu672= Single submitter primary ciliary dyskinesia
- p.Glu699Lys Single submitter primary ciliary dyskinesia
- p.Glu728= Single submitter primary ciliary dyskinesia
- p.Glu734Asp Single submitter
- p.Glu752= Single submitter
- p.Glu757= Single submitter
- p.Glu806= Single submitter
- p.Glu837= Single submitter primary ciliary dyskinesia
- p.Glu844fs Single submitter
- p.Glu846del Single submitter primary ciliary dyskinesia
- p.Glu848= Single submitter inherited retinal dystrophy
- p.Glu860= Single submitter primary ciliary dyskinesia
- p.Glu872= Single submitter primary ciliary dyskinesia
- p.Glu873= Single submitter primary ciliary dyskinesia
- p.Glu886= Single submitter primary ciliary dyskinesia
- p.Glu894= Single submitter primary ciliary dyskinesia
- p.Glu897= Single submitter primary ciliary dyskinesia
- p.Glu916= Single submitter primary ciliary dyskinesia
- p.Glu935_Glu936del Single submitter
- p.Glu936= Single submitter
- p.Glu940= Single submitter primary ciliary dyskinesia
- p.Glu949= Single submitter
- p.Glu949_Glu950insGlyGluAspGlyGluGlyGluGlyGlu Single submitter
- p.Glu952= Single submitter primary ciliary dyskinesia
- p.Glu959= Single submitter
- p.Glu965Lys Single submitter
- p.Glu973= Single submitter primary ciliary dyskinesia
- p.Glu983= Single submitter primary ciliary dyskinesia
- p.Glu991= Single submitter primary ciliary dyskinesia
- p.Glu996= Single submitter primary ciliary dyskinesia
- p.Glu998= Single submitter primary ciliary dyskinesia
- p.Gly1013= Single submitter
- p.Gly1019= Single submitter primary ciliary dyskinesia
- p.Gly1039_Glu1041del Single submitter primary ciliary dyskinesia
- p.Gly1050= Single submitter primary ciliary dyskinesia
- p.Gly1093= Single submitter primary ciliary dyskinesia
- p.Gly120= Single submitter primary ciliary dyskinesia
- p.Gly230= Single submitter primary ciliary dyskinesia
- p.Gly399= Single submitter primary ciliary dyskinesia
- p.Gly530= Single submitter primary ciliary dyskinesia
- p.Gly665= Single submitter
- p.Gly782= Single submitter primary ciliary dyskinesia
- p.Gly803= Single submitter primary ciliary dyskinesia
- p.Gly805= Single submitter primary ciliary dyskinesia
- p.Gly833= Single submitter primary ciliary dyskinesia
- p.Gly840= Single submitter
- p.Gly842= Single submitter primary ciliary dyskinesia
- p.Gly858= Single submitter primary ciliary dyskinesia
- p.Gly867= Single submitter primary ciliary dyskinesia
- p.Gly871= Single submitter primary ciliary dyskinesia
- p.Gly902= Single submitter
- p.Gly904= Single submitter primary ciliary dyskinesia
- p.Gly932= Single submitter inherited retinal dystrophy
- p.Gly948= Single submitter primary ciliary dyskinesia
- p.Gly995= Single submitter primary ciliary dyskinesia
- p.His201= Single submitter primary ciliary dyskinesia
- p.His306= Single submitter primary ciliary dyskinesia
- p.His337= Single submitter
- p.His360= Single submitter primary ciliary dyskinesia
- p.Ile313= Single submitter primary ciliary dyskinesia
- p.Ile339Val Single submitter primary ciliary dyskinesia
- p.Ile499= Single submitter primary ciliary dyskinesia
- p.Ile529= Single submitter primary ciliary dyskinesia
- p.Ile529Leu Single submitter primary ciliary dyskinesia
- p.Ile576Met Single submitter primary ciliary dyskinesia
- p.Ile601Met Single submitter primary ciliary dyskinesia
- p.Ile625= Single submitter primary ciliary dyskinesia
- p.Leu211= Single submitter primary ciliary dyskinesia
- p.Leu258= Single submitter primary ciliary dyskinesia
- p.Leu391= Single submitter primary ciliary dyskinesia
- p.Leu406= Single submitter primary ciliary dyskinesia
- p.Leu437Phe Single submitter primary ciliary dyskinesia
- p.Leu465Phe Single submitter primary ciliary dyskinesia
- p.Leu493= Single submitter
- p.Leu508= Single submitter primary ciliary dyskinesia
- p.Leu630= Single submitter primary ciliary dyskinesia
- p.Lys1106= Single submitter
- p.Lys1139Thr Single submitter primary ciliary dyskinesia
- p.Lys141= Single submitter
- p.Lys373_Glu374insLys Single submitter primary ciliary dyskinesia
- p.Lys590= Single submitter primary ciliary dyskinesia
- p.Lys640Glu Single submitter primary ciliary dyskinesia
- p.Lys641= Single submitter
- p.Lys676= Single submitter primary ciliary dyskinesia
- p.Lys681= Single submitter primary ciliary dyskinesia
- p.Lys857Glu Single submitter
- p.Lys88= Single submitter primary ciliary dyskinesia
- p.Met742Ile Single submitter primary ciliary dyskinesia
- p.Phe281= Single submitter primary ciliary dyskinesia
- p.Phe319= Single submitter primary ciliary dyskinesia
- p.Phe364= Single submitter primary ciliary dyskinesia
- p.Pro27= Single submitter primary ciliary dyskinesia
Uncertain significance 508
Showing the top 300 by review status; the full set is in the sitemap.
- c.154+5G>A Expert panel RPGR-related retinopathy
- p.Arg323His Expert panel RPGR-related retinopathy ⚠
- p.Asn167Lys Expert panel RPGR-related retinopathy ⚠
- p.Asp312Asn Expert panel RPGR-related retinopathy ⚠
- p.Asp312Tyr Expert panel RPGR-related retinopathy ⚠
- p.Asp943_Glu949del Expert panel RPGR-related retinopathy
- p.Cys42Phe Expert panel RPGR-related retinopathy ⚠
- p.Cys42Trp Expert panel RPGR-related retinopathy ⚠
- p.Gln66His Expert panel RPGR-related retinopathy ⚠
- p.Gly251Val Expert panel RPGR-related retinopathy ⚠
- p.Gly269Glu Expert panel RPGR-related retinopathy ⚠
- p.Gly303Glu Expert panel RPGR-related retinopathy ⚠
- p.Gly358del Expert panel RPGR-related retinopathy
- p.Gly43Arg Expert panel RPGR-related retinopathy ⚠
- p.Gly43Glu Expert panel RPGR-related retinopathy ⚠
- p.Phe130Cys Expert panel RPGR-related retinopathy ⚠
- p.Phe130Ser Expert panel RPGR-related retinopathy ⚠
- p.Thr307Lys Expert panel RPGR-related retinopathy ⚠
- p.Trp1141Cys Expert panel RPGR-related retinopathy
- p.Val177Ile Expert panel RPGR-related retinopathy ⚠
- c.1059+363G>A Multiple submitters primary ciliary dyskinesia
- c.1415-3C>G Multiple submitters retinitis pigmentosa 3
- c.1506+3A>G Multiple submitters primary ciliary dyskinesia
- c.1506+6G>C Multiple submitters primary ciliary dyskinesia
- p.900GEGEGEEE[1] Multiple submitters primary ciliary dyskinesia
- p.971EGEGE[1] Multiple submitters primary ciliary dyskinesia
- p.Ala23Asp Multiple submitters primary ciliary dyskinesia
- p.Ala249Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala355Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala707Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ala83Thr Multiple submitters inherited retinal dystrophy ⚠
- p.Arg293Met Multiple submitters inherited retinal dystrophy ⚠
- p.Arg323Cys Multiple submitters primary ciliary dyskinesia ⚠
- p.Arg415Met Multiple submitters primary ciliary dyskinesia ⚠
- p.Asn115Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Asn336Ser Multiple submitters primary ciliary dyskinesia
- p.Asp123Glu Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp498Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Asp542Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Cys356Arg Multiple submitters ⚠
- p.Gln725Glu Multiple submitters
- p.Glu1008Lys Multiple submitters primary ciliary dyskinesia
- p.Glu1016Lys Multiple submitters
- p.Glu104Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu216Lys Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu253Gly Multiple submitters ⚠
- p.Glu495Gly Multiple submitters primary ciliary dyskinesia ⚠
- p.Glu583= Multiple submitters primary ciliary dyskinesia
- p.Glu739Lys Multiple submitters primary ciliary dyskinesia
- p.Glu797_Gly803del Multiple submitters primary ciliary dyskinesia
- p.Glu806Gly Multiple submitters inherited retinal dystrophy
- p.Glu810del Multiple submitters primary ciliary dyskinesia
- p.Glu831_Glu832del Multiple submitters primary ciliary dyskinesia
- p.Glu859_Glu860insGlyGluGluGluGluGlyGluGlyGluGluGluGluGlyGluGlyLysGlyGlu Multiple submitters primary ciliary dyskinesia
- p.Glu924del Multiple submitters primary ciliary dyskinesia
- p.Glu959Gly Multiple submitters primary ciliary dyskinesia
- p.Glu963_Gly964insTrpGluGlyGluGluGluGluGlyGlu Multiple submitters primary ciliary dyskinesia
- p.Glu992Lys Multiple submitters primary ciliary dyskinesia
- p.Gly1003del Multiple submitters primary ciliary dyskinesia
- p.Gly1050Glu Multiple submitters primary ciliary dyskinesia
- p.Gly1133Arg Multiple submitters primary ciliary dyskinesia
- p.Gly252Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Gly653Ser Multiple submitters inherited retinal dystrophy
- p.Gly731Ala Multiple submitters primary ciliary dyskinesia
- p.Gly865_Glu869del Multiple submitters primary ciliary dyskinesia
- p.Gly919_Lys920insGluGlyGluGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGly Multiple submitters primary ciliary dyskinesia
- p.Gly928Arg Multiple submitters primary ciliary dyskinesia
- p.Gly937del Multiple submitters RPGR-related disorder
- p.Gly941Trp Multiple submitters inherited retinal dystrophy
- p.Gly948Glu Multiple submitters primary ciliary dyskinesia
- p.Gly988Arg Multiple submitters primary ciliary dyskinesia
- p.His254Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.His324Arg Multiple submitters primary ciliary dyskinesia
- p.His562Gln Multiple submitters primary ciliary dyskinesia ⚠
- p.His735Tyr Multiple submitters primary ciliary dyskinesia
- p.Ile188Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile431Thr Multiple submitters primary ciliary dyskinesia ⚠
- p.Ile748Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu276Arg Multiple submitters primary ciliary dyskinesia
- p.Leu347Phe Multiple submitters primary ciliary dyskinesia ⚠
- p.Leu465Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Lys29= Multiple submitters primary ciliary dyskinesia
- p.Met466Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Met550Ile Multiple submitters primary ciliary dyskinesia ⚠
- p.Met58Val Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro225Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro367del Multiple submitters primary ciliary dyskinesia
- p.Pro37Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Pro429Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser1089Asn Multiple submitters primary ciliary dyskinesia
- p.Ser11Leu Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr156Asn Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr206Arg Multiple submitters primary ciliary dyskinesia ⚠
- p.Thr51Ala Multiple submitters primary ciliary dyskinesia ⚠
- p.Trp1141Ter Multiple submitters primary ciliary dyskinesia
- p.Val1144Leu Multiple submitters primary ciliary dyskinesia
- c.1059+4del Single submitter
- c.1060-5T>A Single submitter primary ciliary dyskinesia
- c.1245_1245+6dup Single submitter primary ciliary dyskinesia
- c.1246-10T>C Single submitter primary ciliary dyskinesia
- c.1246-3A>G Single submitter primary ciliary dyskinesia
- c.1506+4del Single submitter retinitis pigmentosa 3
- c.155-10C>G Single submitter primary ciliary dyskinesia
- c.1572+6del Single submitter primary ciliary dyskinesia
- c.1573-18_1573-15del Single submitter primary ciliary dyskinesia
- c.1573-3C>G Single submitter primary ciliary dyskinesia
- c.1573-6T>G Single submitter primary ciliary dyskinesia
- c.1754-7T>G Single submitter primary ciliary dyskinesia ⚠
- c.247+5G>T Single submitter primary ciliary dyskinesia
- c.248-6T>G Single submitter primary ciliary dyskinesia
- c.248-7T>G Single submitter RPGR-related disorder
- c.29-3C>T Single submitter primary ciliary dyskinesia
- c.310+6G>A Single submitter primary ciliary dyskinesia
- c.310+7T>G Single submitter
- c.469+1G>A Single submitter inherited retinal dystrophy
- c.469+5G>A Single submitter retinitis pigmentosa 3
- c.469+5G>C Single submitter
- c.470-13T>G Single submitter RPGR-related retinopathy
- c.619+4A>G Single submitter
- c.620-12T>G Single submitter
- c.620-4A>G Single submitter primary ciliary dyskinesia
- c.778+3A>T Single submitter
- c.779-3C>G Single submitter primary ciliary dyskinesia
- c.934+6G>A Single submitter
- c.-14G>A Single submitter primary ciliary dyskinesia
- c.-168-?_*456+?dup Single submitter primary ciliary dyskinesia
- c.*177A>G Single submitter
- c.*207A>G Single submitter
- p.1001EEGEGE[1] Single submitter primary ciliary dyskinesia
- p.1009GE[1] Single submitter primary ciliary dyskinesia
- p.1030GE[1] Single submitter primary ciliary dyskinesia
- p.67LG[1] Single submitter inherited retinal dystrophy
- p.829EEEEGEG[2] Single submitter primary ciliary dyskinesia
- p.861EGE[1] Single submitter primary ciliary dyskinesia
- p.928GE[2] Single submitter primary ciliary dyskinesia
- p.944_958GE[3]EEEGEWEGEGEEGEGEGEEEEGEWEGE[1] Single submitter primary ciliary dyskinesia
- p.993EEGE[2] Single submitter primary ciliary dyskinesia
- p.Ala13Val Single submitter primary ciliary dyskinesia
- p.Ala147Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala153Asp Single submitter ⚠
- p.Ala153Thr Single submitter retinitis pigmentosa 3 ⚠
- p.Ala203Pro Single submitter primary ciliary dyskinesia ⚠
- p.Ala365Val Single submitter primary ciliary dyskinesia ⚠
- p.Ala372Gly Single submitter primary ciliary dyskinesia ⚠
- p.Ala593Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala608Thr Single submitter primary ciliary dyskinesia ⚠
- p.Ala83Ser Single submitter primary ciliary dyskinesia ⚠
- p.Ala93Ser Single submitter primary ciliary dyskinesia ⚠
- p.Arg1057del Single submitter primary ciliary dyskinesia
- p.Arg1057Trp Single submitter
- p.Arg1119Ser Single submitter
- p.Arg323Gly Single submitter primary ciliary dyskinesia ⚠
- p.Arg409His Single submitter primary ciliary dyskinesia ⚠
- p.Arg412Gln Single submitter primary ciliary dyskinesia ⚠
- p.Arg413Lys Single submitter primary ciliary dyskinesia
- p.Arg415= Single submitter primary ciliary dyskinesia
- p.Arg688Gly Single submitter
- p.Arg768Cys Single submitter primary ciliary dyskinesia
- p.Arg826Lys Single submitter primary ciliary dyskinesia
- p.Arg96Lys Single submitter primary ciliary dyskinesia
- p.Asn1058Asp Single submitter primary ciliary dyskinesia
- p.Asn1114Lys Single submitter primary ciliary dyskinesia
- p.Asn150Asp Single submitter primary ciliary dyskinesia ⚠
- p.Asn219= Single submitter
- p.Asn226Asp Single submitter primary ciliary dyskinesia ⚠
- p.Asn226Thr Single submitter primary ciliary dyskinesia ⚠
- p.Asn231His Single submitter primary ciliary dyskinesia ⚠
- p.Asn231Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asn291Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Asn34Lys Single submitter ⚠
- p.Asn400Ser Single submitter ⚠
- p.Asn444Thr Single submitter primary ciliary dyskinesia ⚠
- p.Asn511Ile Single submitter primary ciliary dyskinesia ⚠
- p.Asn511Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Asn53Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asn599Ile Single submitter primary ciliary dyskinesia ⚠
- p.Asn609Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asn609Thr Single submitter primary ciliary dyskinesia ⚠
- p.Asn765Ser Single submitter primary ciliary dyskinesia ⚠
- p.Asn785Asp Single submitter primary ciliary dyskinesia ⚠
- p.Asp1081Tyr Single submitter
- p.Asp208Gly Single submitter ⚠
- p.Asp321Gly Single submitter ⚠
- p.Asp35_Pro37del Single submitter retinitis pigmentosa 3
- p.Asp378Asn Single submitter primary ciliary dyskinesia ⚠
- p.Asp485Asn Single submitter ⚠
- p.Asp535Asn Single submitter ⚠
- p.Asp535Gly Single submitter ⚠
- p.Asp649Gly Single submitter primary ciliary dyskinesia
- p.Asp649Val Single submitter primary ciliary dyskinesia
- p.Asp680Gly Single submitter primary ciliary dyskinesia
- p.Asp689Val Single submitter ⚠
- p.Asp784del Single submitter primary ciliary dyskinesia
- p.Asp789His Single submitter primary ciliary dyskinesia ⚠
- p.Asp789Val Single submitter inherited retinal dystrophy ⚠
- p.Cys197Tyr Single submitter ⚠
- p.Cys302Phe Single submitter primary ciliary dyskinesia ⚠
- p.Cys356Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Cys42Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Cys440= Single submitter primary ciliary dyskinesia
- p.Cys559Ser Single submitter ⚠
- p.Cys812Ser Single submitter
- p.Cys94Tyr Single submitter primary ciliary dyskinesia ⚠
- p.Gln118His Single submitter primary ciliary dyskinesia ⚠
- p.Gln227Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gln403Arg Single submitter primary ciliary dyskinesia ⚠
- p.Gln534Glu Single submitter primary ciliary dyskinesia ⚠
- p.Gln561del Single submitter primary ciliary dyskinesia
- p.Gln565Glu Single submitter primary ciliary dyskinesia ⚠
- p.Gln604Glu Single submitter primary ciliary dyskinesia ⚠
- p.Gln66Leu Single submitter ⚠
- p.Gln778Lys Single submitter ⚠
- p.Gln793Arg Single submitter
- p.Gln795Arg Single submitter primary ciliary dyskinesia ⚠
- p.Glu1002_Glu1045del Single submitter primary ciliary dyskinesia
- p.Glu1002del Single submitter primary ciliary dyskinesia
- p.Glu1006Asp Single submitter primary ciliary dyskinesia
- p.Glu1007_Glu1008insGlyGluGlyGluGlu Single submitter primary ciliary dyskinesia
- p.Glu1008del Single submitter primary ciliary dyskinesia
- p.Glu1015Gly Single submitter primary ciliary dyskinesia
- p.Glu1018_Glu1022del Single submitter primary ciliary dyskinesia
- p.Glu1024Gln Single submitter primary ciliary dyskinesia
- p.Glu1024Gly Single submitter primary ciliary dyskinesia
- p.Glu1037_Glu1041delinsArgGluLysGluGly Single submitter
- p.Glu1040_Glu1041insValGluArgGluValGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGlu Single submitter primary ciliary dyskinesia
- p.Glu1049del Single submitter primary ciliary dyskinesia
- p.Glu1049Val Single submitter primary ciliary dyskinesia
- p.Glu1051Lys Single submitter primary ciliary dyskinesia
- p.Glu1062Asp Single submitter primary ciliary dyskinesia
- p.Glu1066del Single submitter
- p.Glu1074Lys Single submitter
- p.Glu1076del Single submitter inherited retinal dystrophy
- p.Glu157= Single submitter
- p.Glu374Gly Single submitter Leber congenital amaurosis ⚠
- p.Glu416Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu45Val Single submitter primary ciliary dyskinesia ⚠
- p.Glu481Lys Single submitter ⚠
- p.Glu583Val Single submitter primary ciliary dyskinesia ⚠
- p.Glu589del Single submitter primary ciliary dyskinesia
- p.Glu603Val Single submitter ⚠
- p.Glu611Lys Single submitter primary ciliary dyskinesia ⚠
- p.Glu624Asp Single submitter ⚠
- p.Glu652Lys Single submitter primary ciliary dyskinesia
- p.Glu661Asp Single submitter inherited retinal dystrophy
- p.Glu661Gly Single submitter primary ciliary dyskinesia
- p.Glu673del Single submitter
- p.Glu685Gln Single submitter primary ciliary dyskinesia
- p.Glu698Asp Single submitter primary ciliary dyskinesia
- p.Glu734Lys Single submitter
- p.Glu741Gly Single submitter primary ciliary dyskinesia
- p.Glu752fs Single submitter
- p.Glu772del Single submitter primary ciliary dyskinesia
- p.Glu790del Single submitter primary ciliary dyskinesia
- p.Glu797Lys Single submitter
- p.Glu800Gly Single submitter primary ciliary dyskinesia
- p.Glu809Gln Single submitter primary ciliary dyskinesia
- p.Glu809Val Single submitter
- p.Glu818Lys Single submitter primary ciliary dyskinesia
- p.Glu820_Glu821insGlyGlyGluValGlu Single submitter primary ciliary dyskinesia
- p.Glu827delinsGlyGluGlyArgLysLysArgArgGluGlyLysTer Single submitter RPGR-related retinopathy
- p.Glu831_Glu839del Single submitter primary ciliary dyskinesia
- p.Glu832_Glu839del Single submitter primary ciliary dyskinesia
- p.Glu839_Glu841del Single submitter primary ciliary dyskinesia
- p.Glu839del Single submitter
- p.Glu843Lys Single submitter primary ciliary dyskinesia
- p.Glu853Lys Single submitter primary ciliary dyskinesia
- p.Glu855Gly Single submitter primary ciliary dyskinesia
- p.Glu864Ala Single submitter
- p.Glu866_Gly867insArgGluGluGluGlyGluGluGlyGlu Single submitter primary ciliary dyskinesia
- p.Glu870Ala Single submitter primary ciliary dyskinesia
- p.Glu870Gly Single submitter primary ciliary dyskinesia
- p.Glu873_Glu877del Single submitter primary ciliary dyskinesia
- p.Glu873del Single submitter inherited retinal dystrophy
- p.Glu877_Gly878insGluGlyGluGlyGlu Single submitter primary ciliary dyskinesia
- p.Glu882Gly Single submitter
- p.Glu889_Glu890del Single submitter primary ciliary dyskinesia
- p.Glu890_Gly891insGlu Single submitter primary ciliary dyskinesia
- p.Glu890_Gly891insGluGlyGluGlyGluGlyGluGluGlu Single submitter primary ciliary dyskinesia
- p.Glu896Lys Single submitter primary ciliary dyskinesia
- p.Glu897_Glu901del Single submitter primary ciliary dyskinesia
- p.Glu898Gly Single submitter primary ciliary dyskinesia
- p.Glu907_Gly908insGluGlyGluGlyGluGlyGluGluGlu Single submitter primary ciliary dyskinesia
- p.Glu907del Single submitter primary ciliary dyskinesia
- p.Glu907Gly Single submitter primary ciliary dyskinesia
- p.Glu923Lys Single submitter primary ciliary dyskinesia
- p.Glu934_Glu940del Single submitter primary ciliary dyskinesia
- p.Glu935Lys Single submitter primary ciliary dyskinesia
- p.Glu938_Gly939insGluGlyGluGlyGluGlyGluGluGluGluGlyGlu Single submitter primary ciliary dyskinesia
- p.Glu940_Gly941insArgGluAspGlyGluGlyGlu Single submitter primary ciliary dyskinesia
- p.Glu942_Asp943insGluGluGluGlyGluGlyLysGlyGluGluGluGlyGluGluGlyGluGlyGluGlyGluGluGluGluGlyGluGlyGluGlyGlu Single submitter primary ciliary dyskinesia
- p.Glu949_Glu950insAspGlyGluGlyGluGlyGluAspGlyGluGlyGluGlyGlu Single submitter primary ciliary dyskinesia
- p.Glu949_Glu950insAspGlyGluGlyGluGlyGluGluGluGluGlyGluTrpGluGlyGlu Single submitter primary ciliary dyskinesia
- p.Glu949_Glu950insGlyGlu Single submitter primary ciliary dyskinesia
- p.Glu949Lys Single submitter primary ciliary dyskinesia
- p.Glu950_Glu952delinsAsp Single submitter primary ciliary dyskinesia
- p.Glu950_Trp955delinsAspGlyGluGly Single submitter primary ciliary dyskinesia
- p.Glu951Gly Single submitter primary ciliary dyskinesia
- p.Glu952del Single submitter primary ciliary dyskinesia
- p.Glu952Gln Single submitter primary ciliary dyskinesia
- p.Glu952Lys Single submitter primary ciliary dyskinesia