| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Primary Congenital Glaucoma | Blindness in early age, | Autosomal Recessive | 2p22.2 | Splice Site Mutation | CYP1B1 | 1044-1G>C | Tyr349Leufs*73 | Truncated Protein | 0/Rabia Afzal et. al., 2018 |
| Primary Congenital Glaucoma(CYP1B1) | corneal oedema,photophobia,corneal scarring | Autosomal Recessive | 2p22.2 | Frameshift Mutation | CYP1B1 | 736dupT | W246LfsX81 | Frame Shift Mutation | 0/R. Bashir et.al.,,2018 |
| Primary Congenital Glaucoma ( CYP1B1) | Primary Congenital Glaucoma (PCG) | Autosomal Recessive | 2p22.2 | Substitution | CYP1B1 | c.1169G>A | p. Arg390His | Missense | Rauf et al., 2022/2022 |
| Primary Congenital Glaucoma (CYP1B1) | Blindness in early age, Glaucoma 3A | Autosomal Recessive | 2p22.2 | Substitution | CYP1B1 | c.457C>G | p.Arg153Gly | Missense | Tehreem et al., 2022/2022 |
| Primary Congenital Glaucoma (CYP1B1) | Blindness in early age, Glaucoma 3A | Autosomal Recessive | 2p22.2 | Substitution | CYP1B1 | c.516C>A | p.Ser172Arg | Missense | Tehreem et al., 2022/2022 |
| Primary Congenital Glaucoma (CYP1B1) | Blindness in early age, Glaucoma 3A | Autosomal Recessive | 2p22.2 | Duplication | CYP1B1 | c. 629dup | p.Gly211Argfs*13 | Frameshift | Tehreem et al., 2022/2022 |
| Primary Congenital Glaucoma ( CYP1B1) | Blindness in early age, Glaucoma 3A | Autosomal Recessive | 2p22.2 | Substitution | CYP1B1 | c.722T>A | p.Val241Glu | Missense | Tehreem et al., 2022/2022 |
| Primary Congenital Glaucoma (CYP1B1) | Blindness in early age, Glaucoma 3A | Autosomal Recessive | 2p22.2 | Substitution | CYP1B1 | c.732G>A | p.Met244Ile | Missense | Tehreem et al., 2022/2022 |
| Primary Congenital Glaucoma (CYP1B1) | Blindness in early age, Glaucoma 3A | Autosomal Recessive | 2p22.2 | Duplication | CYP1B1 | c. 287dup | p.Leu97Alafs*127 | Frameshift | Tehreem et al., 2022/2022 |
| Primary Congenital Glaucoma (CYP1B1) | Blindness in early age, Glaucoma 3A | Autosomal Recessive | 2p22.2 | Duplication | CYP1B1 | c.662dup | p.Arg222Profs*2 | Frameshift | Tehreem et al., 2022/2022 |
| Primary Congenital Glaucoma (CYP1B1) | Blindness in early age, Glaucoma 3A | Autosomal Recessive | 2p22.2 | Duplication | CYP1B1 | c.868dup | p.Arg290Profs*37 | Frameshift | Tehreem et al., 2022/2022 |
| Primary Congenital Glaucoma (CYP1B1) | Blindness in early age, Glaucoma 3A | Autosomal Recessive | 2p22.2 | Delation | CYP1B1 | c.247del | p.Asp83Thrfs*12 | Frameshift | Tehreem et al., 2022/2022 |
| Primary Congenital Glaucoma (CYP1B1) | Blindness in early age, Glaucoma 3A | Autosomal Recessive | 2p22.2 | Insertion | CYP1B1 | c.758-759insA | p.Val254Glyfs*73 | Frameshift | Tehreem et al., 2022/2022 |
| Primary Congenital Glaucoma (CYP1B1) | Blindness in early age, Glaucoma 3A | Autosomal Recessive | 2p22.2 | Substitution | CYP1B1 | c.740T>A | p.Leu247Gln | Missense | Tehreem et al., 2022/2022 |
| Primary Congenital Glaucoma (CYP1B1) | Blindness in early age, Glaucoma 3A | Autosomal Recessive | 2p22.2 | Substitution | CYP1B1 | c.1263T>A | p.Phe421Leu | Missense | Tehreem et al., 2022/2022 |
| Primary Congenital Glaucoma (CYP1B1) | Blindness in early age, Glaucoma 3A | Autosomal Recessive | 2p22.2 | Duplication | CYP1B1 | c.789dup | p.Leu264Alafs*63 | Frameshift | Tehreem et al., 2022/2022 |
| Primary Congenital Glaucoma (CYP1B1) | Blindness in early age, Glaucoma 3A | Autosomal Recessive | 2p22.2 | Substitution | CYP1B1 | c.724G>C | p.Asp242His | Missense | Tehreem et al., 2022/2022 |
| Primary Congenital Glaucoma (CYP1B1) | Congenital glaucoma | Autosomal Recessive | 2p22.2 | Substitution | CYP1B1 | c.1063C>T | p.(Arg355Ter) | Nonsense | Zafar et al., 2025/2025 |
| Primary congenital glaucoma (CYP1B1) | Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset | Autosomal Recessive | 2p22.2 | Deletion insertion | CYP1B1 | c.862delinsCC | p.Ala288Profs*39 | Frameshift and Premature stop codon | Anjum et al., 2025/2025 |
