PAX6 (Paired box protein Pax-6) variants and mutations
PAX6 (also known as Paired box protein Pax-6) is a human protein-coding gene encoding a paired box protein Pax-6 protein. It orchestrates developmental gene programs in the eye, forebrain, and pancreatic endocrine system. Haploinsufficiency most classically causes aniridia and can also produce broader ocular, endocrine, and neurodevelopmental abnormalities. This analysis covers 938 PAX6 variants and mutations. Of these, 49% have computational variant effect predictions. Disease context includes isolated aniridia, Peters anomaly, and aniridia. Example PAX6 variants include M1I, M1L, and M1V.
Variant analysis overview
- Gene: PAX6
- Protein: Paired box protein Pax-6
- UniProt accession: P26367
- Organism: Homo sapiens
- Variants analyzed: 938
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 649 unspecified-consequence records; 7 stop lost; 174 missense variants; 33 frameshift variants; 42 synonymous variants; 13 stop-gained variants; 5 in-frame insertions; 6 in-frame deletions; 1 incomplete terminal codon variant; 1 splice-region variants; 6 substitution
- Prediction scores: 457 variants have prediction scores (49% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: isolated aniridia, Peters anomaly, aniridia, foveal hypoplasia 1, isolated optic nerve hypoplasia, autosomal dominant keratitis, coloboma of optic nerve, coloboma, ocular, autosomal dominant, Foveal hypoplasia - presenile cataract, aniridia-cerebellar ataxia-intellectual disability syndrome, Aniridia - cerebellar ataxia - intellectual disability, coloboma.
Protein structure and variant hotspots
- Experimental data: 55 protein positions have experimental scores. Source: PAX6 Homeobox domain domainome 1.0.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable PAX6 variants
Examples include M1I, M1L, M1V, Q2*, Q2H, Q2R, N3S, S4I. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1I (p.Met1Ile), rs1554986754, ClinGen CA379960119, ClinVar RCV000544207, ClinGen CA379960120, MetaLR 0.92, MetaSVM 0.87, Uncertain significance, Anophthalmia-microphthalmia syndrome; Autosomal dominant keratitis; carboxymethy
- M1L (p.Met1Leu), rs1131692284, ClinGen CA379960126, ClinVar RCV000496060, ClinVar RCV000635401, MetaLR 0.90, MetaSVM 0.80, Pathogenic, Aniridia 1; Irido-corneo-trabecular dysgenesis
- M1V (p.Met1Val), rs1131692284, ClinGen CA379960125, ClinVar RCV000496024, ClinVar RCV003488635, MetaLR 0.90, MetaSVM 0.80, Pathogenic, Irido-corneo-trabecular dysgenesis
- Q2* (p.Gln2Ter), rs2496627345, ClinGen CA379960116, ClinVar RCV003062356, Pathogenic
- Q2H (p.Gln2His), cosmic curated COSV99570, CADD 25.80, PolyPhen-2 0.00
- Q2R (p.Gln2Arg), gnomAD rs1351518006
- N3S (p.Asn3Ser), TOPMed rs1955817293
- S4I (p.Ser4Ile), cosmic curated COSV53793
- S4N (p.Ser4Asn), Ensembl rs2135155149, CADD 24.50, PolyPhen-2 0.31
- H5N (p.His5Asn), TOPMed rs1954557473
- S6I (p.Ser6Ile), cosmic curated COSV53792
- S6N (p.Ser6Asn), NCI-TCGA Cosmic COSV5379, Variant assessed as somatic; moderate impact.
- S6R (p.Ser6Arg), rs929540579, ClinGen CA219469397, ClinVar RCV004502879, Ensembl rs929540579, CADD 25.20, PolyPhen-2 1.00, Uncertain significance, Inborn genetic diseases
- G7* (p.Gly7Ter), rs1131692285, ClinGen CA379959719, ClinVar RCV000984352, Ensembl rs1131692285, AlphaMissense 1.00, MetaLR 0.97, Pathogenic
- G7R (p.Gly7Arg), rs1131692285, ClinGen CA379959717, ClinVar RCV000496005, Ensembl rs1131692285, AlphaMissense 1.00, MetaLR 0.97, Uncertain significance, not provided
- G7V (p.Gly7Val), rs1190491499, ClinGen CA379959714, ClinVar RCV001927909, gnomAD rs1190491499, CADD 26.90, PolyPhen-2 1.00, Uncertain significance, Aniridia 1; Irido-corneo-trabecular dysgenesis
- Q10* (p.Gln10Ter), rs1954553083, ClinGen CA379959697, ClinVar RCV001239061, Ensembl rs1954553083, Pathogenic
- G12C (p.Gly12Cys), NCI-TCGA Cosmic COSV5379, Variant assessed as somatic; moderate impact.
- G12R (p.Gly12Arg), rs1565246499, ClinGen CA379959684, ClinVar RCV000701816, ClinVar RCV000984353, AlphaMissense 1.00, MetaLR 0.99, Pathogenic, Irido-corneo-trabecular dysgenesis; Aniridia 1
- G12S (p.Gly12Ser), cosmic curated COSV53793
- G13A (p.Gly13Ala), rs1954548195, ClinGen CA379959675, ClinVar RCV001269464, Ensembl rs1954548195, AlphaMissense 1.00, MetaLR 0.99, Pathogenic, Irido-corneo-trabecular dysgenesis
- G13D (p.Gly13Asp), rs1954548195, ClinVar RCV004592394, ClinVar RCV005220961, NCI-TCGA TCGA novel, AlphaMissense 1.00, MetaLR 0.99, Uncertain significance, not provided; Aniridia 1; Irido-corneo-trabecular dysgenesis
- G13R (p.Gly13Arg), gnomAD rs1205816319, CADD 27.40, PolyPhen-2 1.00, Pathogenic, Irido-corneo-trabecular dysgenesis; Aniridia 1
- F15L (p.Phe15Leu), gnomAD rs1486857158, CADD 24.80, PolyPhen-2 0.30
- N17K (p.Asn17Lys), rs1388158419, ClinGen CA379959646, ClinVar RCV000984355, TOPMed rs1388158419, AlphaMissense 0.99, MetaLR 0.99, Likely pathogenic, Aniridia 1
- N17S (p.Asn17Ser), UniProt VAR 003808, Pathogenic, in AN1
- G18A (p.Gly18Ala), rs1592564366, ClinGen CA379959642, ClinVar RCV000984356, Ensembl rs1592564366, AlphaMissense 1.00, MetaLR 0.99, Likely pathogenic, Aniridia 1
- G18R (p.Gly18Arg), rs886044289, ClinGen CA379959645, cosmic curated COSV10958, ClinVar RCV001388985, AlphaMissense 1.00, MetaLR 0.99, Pathogenic, Aniridia 1; Irido-corneo-trabecular dysgenesis; PAX6-related disorder
- G18V (p.Gly18Val), NCI-TCGA Cosmic COSV5379, cosmic curated COSV53795, Variant assessed as somatic; moderate impact., in AN1
- G18W (p.Gly18Trp), rs886044289, ClinGen CA379959644, ClinVar RCV003058300, UniProt VAR 003809, AlphaMissense 1.00, MetaLR 0.99, Likely pathogenic, Aniridia 1; Irido-corneo-trabecular dysgenesis
- R19L (p.Arg19Leu), rs2135152943, ClinGen CA379959636, NCI-TCGA Cosmic COSV5379, cosmic curated COSV53795, AlphaMissense 1.00, MetaLR 0.99, Uncertain significance, not provided; Irido-corneo-trabecular dysgenesis; Aniridia 1
- R19P (p.Arg19Pro), UniProt VAR 047860, Pathogenic, in AN1
- R19W (p.Arg19Trp), rs1263617876, ClinGen CA379959639, ClinVar RCV001752436, ClinVar RCV006557669, AlphaMissense 1.00, MetaLR 0.99, Uncertain significance, Aniridia 1; Irido-corneo-trabecular dysgenesis; not provided
- P20S (p.Pro20Ser), rs2496303548, ClinGen CA379959633, ClinVar RCV003790462, NCI-TCGA TCGA novel, CADD 24.10, PolyPhen-2 0.20, Uncertain significance, Aniridia 1; Irido-corneo-trabecular dysgenesis
- P22L (p.Pro22Leu), rs1954533614, ClinGen CA379959619, ClinVar RCV001061481, Ensembl rs1954533614, AlphaMissense 1.00, MetaLR 0.99, Uncertain significance, Irido-corneo-trabecular dysgenesis; Aniridia 1
- P22S (p.Pro22Ser), cosmic curated COSV10459
- D23A (p.Asp23Ala), TOPMed rs1330328297
- S24A (p.Ser24Ala), gnomAD rs1819194915, CADD 23.60, PolyPhen-2 0.45
- R26G (p.Arg26Gly), rs121907913, ClinGen CA116217, ClinVar RCV000003627, ClinVar RCV000003628, AlphaMissense 1.00, MetaLR 0.99, Pathogenic/Likely pathogenic, Coloboma, ocular, autosomal dominant; ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOM
- R26Q (p.Arg26Gln), rs2496299328, ClinGen CA379959597, ClinVar RCV003883478, ClinVar RCV004560325, Likely pathogenic, Aniridia 1
- R26W (p.Arg26Trp), rs121907913, ClinGen CA379959598, ClinVar RCV000984359, ClinVar RCV002550582, AlphaMissense 1.00, MetaLR 0.99, Pathogenic, Irido-corneo-trabecular dysgenesis; Aniridia 1
- Q27H (p.Gln27His), rs1954524676, ClinGen CA379959588, ClinVar RCV002811622, Uncertain significance, Aniridia 1; Irido-corneo-trabecular dysgenesis
- K28N (p.Lys28Asn), cosmic curated COSV53795, NCI-TCGA Cosmic COSV5379, CADD 26.70, PolyPhen-2 0.96, Variant assessed as somatic; moderate impact.
- I29S (p.Ile29Ser), UniProt VAR 008694, Pathogenic, in AN1
- I29T (p.Ile29Thr), rs2496297509, ClinGen CA379959573, ClinVar RCV002292107, ClinVar RCV003097807, Conflicting interpretations, Aniridia 1; Irido-corneo-trabecular dysgenesis; not provided
- I29V (p.Ile29Val), UniProt VAR 003811, Pathogenic, in AN1
- V30I (p.Val30Ile), rs768554144, ClinGen CA5933975, ClinVar RCV002612188, ExAC rs768554144, CADD 23.70, PolyPhen-2 0.99, Uncertain significance, Aniridia 1; Irido-corneo-trabecular dysgenesis
- E31* (p.Glu31Ter), cosmic curated COSV99570
- E31D (p.Glu31Asp), ExAC rs778947003, TOPMed rs778947003, gnomAD rs778947003
- L32P (p.Leu32Pro), NCI-TCGA Cosmic COSV5379, cosmic curated COSV53792, Variant assessed as somatic; moderate impact.
- L32R (p.Leu32Arg), rs1954518916, ClinGen CA379959554, ClinVar RCV001070950, Ensembl rs1954518916, AlphaMissense 1.00, MetaLR 0.99, Uncertain significance, Aniridia 1; Irido-corneo-trabecular dysgenesis
- L32V (p.Leu32Val), rs1592563721, ClinGen CA379959557, ClinVar RCV000984360, Ensembl rs1592563721, AlphaMissense 0.99, MetaLR 0.99, Likely pathogenic, Aniridia 1
- A33P (p.Ala33Pro), UniProt VAR 008695, Uncertain significance, not provided
- A33T (p.Ala33Thr), NCI-TCGA Cosmic COSV9957, cosmic curated COSV99570, Variant assessed as somatic; moderate impact., in AN1
- G36A (p.Gly36Ala), cosmic curated COSV10958, Likely pathogenic, not provided
- G36E (p.Gly36Glu), rs1592563636, ClinGen CA379959528, ClinVar RCV000984362, Ensembl rs1592563636, AlphaMissense 1.00, MetaLR 0.99, Likely pathogenic, Aniridia 1
- G36V (p.Gly36Val), rs1592563636, ClinGen CA379959527, ClinVar RCV000984363, Ensembl rs1592563636, AlphaMissense 1.00, MetaLR 0.99, Likely pathogenic, Aniridia 1
- A37P (p.Ala37Pro), rs2496292641, ClinGen CA379959525, ClinVar RCV003813325, Likely pathogenic, Aniridia 1; Irido-corneo-trabecular dysgenesis
- R38G (p.Arg38Gly), rs397514640, ClinGen CA379959519, ClinVar RCV000789036, ClinVar RCV001249825, AlphaMissense 1.00, MetaLR 0.99, Pathogenic/Likely pathogenic, not provided; Aniridia 1
- R38P (p.Arg38Pro), rs2496291260, ClinGen CA379959517, ClinVar RCV002632616, Pathogenic, Aniridia 1; Irido-corneo-trabecular dysgenesis
- R38Q (p.Arg38Gln), rs2496291260, ClinGen CA379959518, ClinVar RCV003074949, ClinVar RCV003491223, Pathogenic/Likely pathogenic, Irido-corneo-trabecular dysgenesis; Aniridia 1
- R38W (p.Arg38Trp), rs397514640, ClinGen CA261246, ClinVar RCV000033168, ClinVar RCV003764654, AlphaMissense 1.00, MetaLR 0.99, Pathogenic/Likely pathogenic, Aniridia 1; Irido-corneo-trabecular dysgenesis; not provided
- P39A (p.Pro39Ala), cosmic curated COSV53796, Uncertain significance, Aniridia 1; Irido-corneo-trabecular dysgenesis
- P39L (p.Pro39Leu), cosmic curated COSV53792
- P39R (p.Pro39Arg), cosmic curated COSV53796
- C40* (p.Cys40Ter), rs1329112134, ClinGen CA379959502, ClinVar RCV000527030, ClinVar RCV006362439, Pathogenic
- C40R (p.Cys40Arg), cosmic curated COSV10958
- D41E (p.Asp41Glu), cosmic curated COSV53795
- D41H (p.Asp41His), rs886044222, ClinGen CA10606497, ClinVar RCV000298226, Ensembl rs886044222, CADD 27.50, PolyPhen-2 1.00, Uncertain significance, not provided
- D41V (p.Asp41Val), NCI-TCGA Cosmic COSV5379, cosmic curated COSV53793, CADD 25.90, PolyPhen-2 1.00, Variant assessed as somatic; moderate impact.
- I42L (p.Ile42Leu), rs2496286886, ClinGen CA379959494, ClinVar RCV003804916, Uncertain significance, Aniridia 1; Irido-corneo-trabecular dysgenesis
- I42S (p.Ile42Ser), rs1592562910, ClinGen CA379959489, ClinVar RCV000984370, Ensembl rs1592562910, AlphaMissense 1.00, MetaLR 0.99, Likely pathogenic, Aniridia 1
- S43F (p.Ser43Phe), rs1592562836, ClinGen CA379959482, NCI-TCGA Cosmic COSV5379, cosmic curated COSV53794, AlphaMissense 1.00, MetaLR 0.99, Pathogenic/Likely pathogenic, Aniridia 1; Irido-corneo-trabecular dysgenesis
- S43P (p.Ser43Pro), UniProt VAR 008698, Pathogenic, in AN1
- R44* (p.Arg44Ter), rs141873759, ClinGen CA379959480, cosmic curated COSV53792, ClinVar RCV000496034, Pathogenic, in AN1
- R44P (p.Arg44Pro), rs1554985722, ClinGen CA379959478, ClinVar RCV000603782, Ensembl rs1554985722, AlphaMissense 1.00, MetaLR 0.99, Pathogenic, Microphthalmia; Developmental cataract
- R44Q (p.Arg44Gln), UniProt VAR 003812, CADD 32.00, PolyPhen-2 1.00, Pathogenic, in AN1
- I45T (p.Ile45Thr), gnomAD rs1167596100
- L46R (p.Leu46Arg), UniProt VAR 047861, Pathogenic, in AN1
- L46V (p.Leu46Val), Ensembl rs78692805
- Q47* (p.Gln47Ter), rs1554985716, ClinGen CA379959463, ClinVar RCV000635405, Ensembl rs1554985716, Pathogenic
- Q47H (p.Gln47His), rs2135147324, ClinGen CA379959458, ClinVar RCV002026301, ClinVar RCV002471220, AlphaMissense 0.92, MetaLR 0.98, Conflicting interpretations, Irido-corneo-trabecular dysgenesis; Aniridia 1
- Q47L (p.Gln47Leu), rs1131692289, ClinVar RCV004587516, AlphaMissense 0.67, MetaLR 0.95, Likely pathogenic, Aniridia 1
- Q47P (p.Gln47Pro), rs1131692289, ClinGen CA379959462, ClinVar RCV000984372, Ensembl rs1131692289, AlphaMissense 0.67, MetaLR 0.95, Pathogenic, Aniridia 1
- Q47R (p.Gln47Arg), rs1131692289, ClinGen CA379959461, ClinVar RCV000495996, Ensembl rs1131692289, AlphaMissense 0.67, MetaLR 0.95, Pathogenic, Aniridia 1
- V48A (p.Val48Ala), Ensembl rs2135101631, Pathogenic, not provided
- V48G (p.Val48Gly), rs2135101631, ClinGen CA379959139, ClinVar RCV003029603, AlphaMissense 0.99, MetaLR 0.99, Uncertain significance, Aniridia 1; Irido-corneo-trabecular dysgenesis
- V48L (p.Val48Leu), rs2496155861, ClinGen CA379959146, ClinVar RCV002300915, Likely pathogenic, not provided
- S49F (p.Ser49Phe), cosmic curated COSV99570, Likely pathogenic, not provided
- S49P (p.Ser49Pro), cosmic curated COSV53791
- S49Y (p.Ser49Tyr), rs1554985430, ClinGen CA379959132, ClinVar RCV000523067, ClinVar RCV006556175, AlphaMissense 1.00, MetaLR 0.99, Conflicting interpretations, Irido-corneo-trabecular dysgenesis; Aniridia 1; not provided
- N50D (p.Asn50Asp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- N50K (p.Asn50Lys), rs727504064, ClinGen CA234482, ClinVar RCV000153641, ClinVar RCV000207422, AlphaMissense 1.00, MetaLR 0.97, Conflicting interpretations, not provided; Anophthalmia-microphthalmia syndrome
- N50S (p.Asn50Ser), cosmic curated COSV10459
- G51E (p.Gly51Glu), rs587778874, ClinGen CA379959103, ClinVar RCV003809859, AlphaMissense 1.00, MetaLR 0.99, Uncertain significance, Aniridia 1; Irido-corneo-trabecular dysgenesis
- G51R (p.Gly51Arg), rs1131692293, ClinGen CA379959106, cosmic curated COSV10459, ClinVar RCV000496035, AlphaMissense 1.00, MetaLR 0.99, Likely pathogenic, Irido-corneo-trabecular dysgenesis; Aniridia 1; not provided
- G51V (p.Gly51Val), rs587778874, ClinGen CA145185, ClinVar RCV000059340, ClinVar RCV001200041, AlphaMissense 1.00, MetaLR 0.99, Pathogenic/Likely pathogenic, Anterior segment dysgenesis; Irido-corneo-trabecular dysgenesis
- C52R (p.Cys52Arg), UniProt VAR 047862, Pathogenic, in AN1
- C52W (p.Cys52Trp), rs1283307441, ClinGen CA379959088, ClinVar RCV002856977, Likely pathogenic, Aniridia 1; Irido-corneo-trabecular dysgenesis
- V53D (p.Val53Asp), UniProt VAR 008700, Pathogenic, in ASGD5
- V53G (p.Val53Gly), rs1592546273, ClinGen CA379959082, ClinVar RCV000984378, Ensembl rs1592546273, Pathogenic, Aniridia 1
- V53L (p.Val53Leu), rs2496152990, ClinGen CA379959087, ClinVar RCV003037379, UniProt VAR 008699, Likely pathogenic, Aniridia 1; Irido-corneo-trabecular dysgenesis
- V53M (p.Val53Met), rs2496152990, ClinGen CA379959086, ClinVar RCV004534399, Conflicting interpretations, Isolated optic nerve hypoplasia; Developmental disorder
- S54R (p.Ser54Arg), rs2496152181, ClinGen CA379959081, ClinVar RCV003883476, Pathogenic, Coloboma, ocular, autosomal dominant
- S54C (p.Ser54Cys), rs868663041, []
- K55* (p.Lys55Ter), rs1592546120, ClinGen CA379959071, ClinVar RCV000984379, ClinVar RCV004773211, Pathogenic
- K55T (p.Lys55Thr), rs1131692294, ClinGen CA379959069, ClinVar RCV000496066, Ensembl rs1131692294, AlphaMissense 1.00, MetaLR 0.99, Likely pathogenic, Aniridia 1
- I56T (p.Ile56Thr), UniProt VAR 047863, Pathogenic, in AN1
- L57P (p.Leu57Pro), rs1592545972, ClinGen CA379959055, ClinVar RCV000984381, Ensembl rs1592545972, AlphaMissense 1.00, MetaLR 0.99, Likely pathogenic, Aniridia 1
- G58D (p.Gly58Asp), cosmic curated COSV53793
- R59S (p.Arg59Ser), rs1953969921, ClinGen CA379959028, ClinVar RCV002288116, Likely pathogenic, not provided
- Y60N (p.Tyr60Asn), rs2496149378, ClinGen CA379959026, ClinVar RCV002292444, Likely pathogenic, not provided
- Y61* (p.Tyr61Ter), rs760490431, ClinGen CA379959000, ClinVar RCV002037739, ExAC rs760490431, Pathogenic
- E62* (p.Glu62Ter), rs1131692295, ClinGen CA379958991, ClinVar RCV000496016, TOPMed rs1131692295, Pathogenic
- E62D (p.Glu62Asp), TOPMed rs1280589297, gnomAD rs1280589297, NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- E62K (p.Glu62Lys), NCI-TCGA Cosmic COSV5379, cosmic curated COSV53794, Variant assessed as somatic; moderate impact.
- T63P (p.Thr63Pro), UniProt VAR 008701, Pathogenic, in AN1
- G64V (p.Gly64Val), rs121907920, ClinGen CA116227, ClinVar RCV000003637, ClinVar RCV000984384, AlphaMissense 1.00, MetaLR 0.99, Pathogenic, Foveal hypoplasia 1 with cataract; Aniridia 1
- S65Y (p.Ser65Tyr), NCI-TCGA Cosmic COSV5379, cosmic curated COSV53793, Variant assessed as somatic; moderate impact.
- I66L (p.Ile66Leu), Ensembl rs1592545611
- I66N (p.Ile66Asn), rs864309686, ClinGen CA278818, ClinVar RCV000203333, Ensembl rs864309686, AlphaMissense 1.00, MetaLR 0.99, Likely pathogenic, Developmental cataract
- R67* (p.Arg67Ter), rs775355156, ClinGen CA10588517, ClinVar RCV000255443, ClinVar RCV006555742, Pathogenic
- R67I (p.Arg67Ile), cosmic curated COSV53792
- R67K (p.Arg67Lys), cosmic curated COSV53795
- P68L (p.Pro68Leu), rs1953954636, ClinGen CA379958909, ClinVar RCV001218640, Ensembl rs1953954636, AlphaMissense 1.00, MetaLR 0.99, Uncertain significance, Aniridia 1; Irido-corneo-trabecular dysgenesis
- P68S (p.Pro68Ser), rs121907923, ClinGen CA116233, ClinVar RCV000003643, UniProt VAR 017540, AlphaMissense 1.00, MetaLR 0.99, Pathogenic, Coloboma of optic nerve
- R69G (p.Arg69Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R69M (p.Arg69Met), NCI-TCGA Cosmic COSV5379, cosmic curated COSV53792, Variant assessed as somatic; moderate impact.
- R69S (p.Arg69Ser), rs2135097990, ClinGen CA379958897, ClinVar RCV001903869, Ensembl rs2135097990, AlphaMissense 1.00, MetaLR 0.98, Uncertain significance, Aniridia 1; Irido-corneo-trabecular dysgenesis
- R69T (p.Arg69Thr), cosmic curated COSV53794
- I71V (p.Ile71Val), TOPMed rs1272699062
- G72A (p.Gly72Ala), rs2496144154, ClinGen CA379958861, ClinVar RCV003800869, Uncertain significance, Aniridia 1; Irido-corneo-trabecular dysgenesis
- G72C (p.Gly72Cys), rs759557055, ClinGen CA379958869, ClinVar RCV000984387, ClinVar RCV002549623, AlphaMissense 1.00, MetaLR 0.99, Pathogenic/Likely pathogenic, not provided; Aniridia 1; Irido-corneo-trabecular dysgenesis
- G72R (p.Gly72Arg), rs759557055, ClinGen CA379958867, ClinVar RCV000984386, ClinVar RCV004669181, AlphaMissense 1.00, MetaLR 0.99, Conflicting interpretations, Intellectual disability; Foveal hypoplasia 1; Aniridia 1
- G72S (p.Gly72Ser), rs759557055, ClinGen CA5933929, ClinVar RCV003037378, ExAC rs759557055, AlphaMissense 1.00, MetaLR 0.99, Pathogenic, Aniridia 1; Irido-corneo-trabecular dysgenesis
- G73C (p.Gly73Cys), cosmic curated COSV53795
- G73D (p.Gly73Asp), rs2135097306, ClinGen CA379958851, ClinVar RCV002245510, ClinVar RCV003093967, AlphaMissense 1.00, MetaLR 0.99, Conflicting interpretations, Irido-corneo-trabecular dysgenesis; Aniridia 1
- S74C (p.Ser74Cys), rs1565239425, ClinGen CA379958843, ClinVar RCV000701300, Ensembl rs1565239425, AlphaMissense 1.00, MetaLR 0.99, Uncertain significance, Aniridia 1; Irido-corneo-trabecular dysgenesis
- K75E (p.Lys75Glu), TOPMed rs1201627393, gnomAD rs1201627393
- K75N (p.Lys75Asn), TOPMed rs1296459827, gnomAD rs1296459827
- K75Q (p.Lys75Gln), TOPMed rs1201627393, gnomAD rs1201627393
- K75T (p.Lys75Thr), cosmic curated COSV10438
- P76L (p.Pro76Leu), rs2135096558, ClinGen CA379958806, cosmic curated COSV10501, ClinVar RCV001966495, AlphaMissense 1.00, MetaLR 0.99, Likely pathogenic, Aniridia 1; Irido-corneo-trabecular dysgenesis
- P76Q (p.Pro76Gln), rs2135096558, ClinGen CA379958804, ClinVar RCV001976953, Ensembl rs2135096558, AlphaMissense 1.00, MetaLR 0.99, Likely pathogenic, Irido-corneo-trabecular dysgenesis; Aniridia 1
- P76S (p.Pro76Ser), NCI-TCGA Cosmic COSV1043, NCI-TCGA Cosmic COSV9957, cosmic curated COSV99570, Variant assessed as somatic; moderate impact.
- P76T (p.Pro76Thr), cosmic curated COSV10438
- R77I (p.Arg77Ile), cosmic curated COSV10805
- V78A (p.Val78Ala), rs886042622, ClinGen CA10604487, ClinVar RCV000284578, Ensembl rs886042622, AlphaMissense 1.00, MetaLR 0.99, Uncertain significance, not provided
- V78E (p.Val78Glu), rs886042622, ClinGen CA379958779, ClinVar RCV001323142, ClinVar RCV005232267, AlphaMissense 1.00, MetaLR 0.99, Pathogenic, Aniridia 1; Irido-corneo-trabecular dysgenesis; PAX6-related disorder
- V78L (p.Val78Leu), rs2496142215, ClinGen CA379958785, ClinVar RCV003803071, Uncertain significance, Aniridia 1; Irido-corneo-trabecular dysgenesis
- A79E (p.Ala79Glu), UniProt VAR 008703, Pathogenic, in AN1
- A79V (p.Ala79Val), cosmic curated COSV53791
- T80A (p.Thr80Ala), rs2496141177, ClinGen CA379958761, ClinVar RCV003017716, Uncertain significance, Aniridia 1; Irido-corneo-trabecular dysgenesis
- T80I (p.Thr80Ile), gnomAD rs1385603423
- P81L (p.Pro81Leu), TOPMed rs1425176516, gnomAD rs1425176516
- P81T (p.Pro81Thr), cosmic curated COSV10805
- E82* (p.Glu82Ter), rs1131692296, ClinGen CA379958734, NCI-TCGA Cosmic COSV5379, ClinVar RCV000496051, Pathogenic
- E82D (p.Glu82Asp), NCI-TCGA Cosmic COSV5379, cosmic curated COSV53793, Uncertain significance, Inborn genetic diseases
- E82K (p.Glu82Lys), NCI-TCGA Cosmic COSV5379, cosmic curated COSV53793, Variant assessed as somatic; moderate impact.
- V83A (p.Val83Ala), rs2135095172, ClinGen CA379958716, cosmic curated COSV10501, ClinVar RCV002043644, AlphaMissense 1.00, MetaLR 0.99, Uncertain significance, Irido-corneo-trabecular dysgenesis; Aniridia 1
- V83I (p.Val83Ile), ESP rs372222637
- V84A (p.Val84Ala), cosmic curated COSV10727
- V84L (p.Val84Leu), NCI-TCGA Cosmic COSV9957, cosmic curated COSV99570, Variant assessed as somatic; moderate impact.
- S85G (p.Ser85Gly), rs2496138389, ClinGen CA379958697, ClinVar RCV003390032, Uncertain significance, not provided
- K86E (p.Lys86Glu), ExAC rs769974302
- K86R (p.Lys86Arg), TOPMed rs1465798693, gnomAD rs1465798693
- I87K (p.Ile87Lys), UniProt VAR 047865, Pathogenic, in AN1
- I87R (p.Ile87Arg), rs2496136805, ClinGen CA379958655, ClinVar RCV003224010, UniProt VAR 003813, Likely pathogenic, not provided
- I87N (p.Ile87Asn), rs864309686, Likely pathogenic
- A88G (p.Ala88Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Q89* (p.Gln89Ter), rs1131692297, ClinGen CA379958636, ClinVar RCV000495990, ClinVar RCV001865557, Pathogenic
- Q89L (p.Gln89Leu), Ensembl rs1167005463, Uncertain significance
- Q89P (p.Gln89Pro), rs1167005463, ClinGen CA379958634, ClinVar RCV000768370, ClinVar RCV000994596, AlphaMissense 0.07, MetaLR 0.94, Uncertain significance, not provided; 11p partial monosomy syndrome
- Q89R (p.Gln89Arg), Ensembl rs1167005463, Uncertain significance
- Y90C (p.Tyr90Cys), NCI-TCGA Cosmic COSV9957, cosmic curated COSV99570, Conflicting interpretations, Aniridia 1; not provided
- Y90H (p.Tyr90His), rs748252607, ExAC rs748252607, gnomAD rs748252607, AlphaMissense 0.99, MetaLR 0.98, Variant assessed as somatic; moderate impact.
- K91E (p.Lys91Glu), NCI-TCGA Cosmic COSV9957, cosmic curated COSV99570, Variant assessed as somatic; moderate impact.
- K91Q (p.Lys91Gln), gnomAD rs1953924207
- K91R (p.Lys91Arg), ExAC rs781597459, gnomAD rs781597459
- R92P (p.Arg92Pro), rs769095184, ClinGen CA379958612, ClinVar RCV000984391, ExAC rs769095184, AlphaMissense 0.16, MetaLR 0.96, Likely pathogenic, Aniridia 1
Public PAX6 analysis runs
- PAX6 analysis run — PAX6 (938 variants) — completed 2026-08-18