Total 82 pathogenic variants reported for Congenital glaucoma 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu) SNV
Germline		 Chr2:38075207 Pathogenic Glaucoma 3A
Glaucoma 3A
Glaucoma 3, primary infantile, B
Anterior segment dysgenesis 6
Condition: not provided
Congenital glaucoma
Anterior segment dysgenesis 6
Glaucoma 3A
Anterior segment dysgenesis 6		 Criteria Provided
Multiple Submitters
No Conflicts
 CA254237 rs_28936700

15 SubmittersRCV000008169RCV000763083RCV000255452RCV001206715RCV001335112RCV003483427
NM_000104.4(CYP1B1):c.1405C>T (p.Arg469Trp) SNV
Germline		 Chr2:38070949 Pathogenic Glaucoma 3A
Condition: not provided
Congenital glaucoma
Anterior segment dysgenesis 6
Primary congenital glaucoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA254239 rs_28936701

11 SubmittersRCV000008172RCV000255845RCV002512894RCV003466833RCV003155021
NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys) SNV
Germline		 Chr2:38071195 Pathogenic/Likely pathogenic Glaucoma 3A
Primary congenital glaucoma
Condition: not provided
Glaucoma of childhood
Congenital glaucoma
Anterior segment dysgenesis 6
Anterior segment dysgenesis 6
Glaucoma 3A
Glaucoma 3, primary infantile, B		 Criteria Provided
Multiple Submitters
No Conflicts
 CA254241 rs_55989760

13 SubmittersRCV000008174RCV001375550RCV000724653RCV000791358RCV001201386RCV003466834RCV002490338
NM_000104.4(CYP1B1):c.2T>C (p.Met1Thr) SNV
Germline		 Chr2:38075387 Pathogenic/Likely pathogenic Anterior segment dysgenesis 6
Primary congenital glaucoma
Congenital glaucoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA119012 rs_72549389

3 SubmittersRCV000008175RCV003155022RCV003593856
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter) SNV
Germline		 Chr2:38075218 Pathogenic/Likely pathogenic Irido-corneo-trabecular dysgenesis
Glaucoma 3A
Anterior segment dysgenesis 6
CYP1B1-related disorder
Congenital glaucoma
Condition: not provided
Anterior segment dysgenesis 6
Glaucoma 3, primary infantile, B
Glaucoma 3A
Anterior segment dysgenesis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA119014 rs_72549387

12 SubmittersRCV000008176RCV000169657RCV000416316RCV000331073RCV000692947RCV000489919RCV000763084RCV001200036
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) SNV
Germline		 Chr2:38071251 Conflicting classifications of pathogenicity Glaucoma, early-onset, digenic
Glaucoma 3A
Congenital ocular coloboma
Condition: not provided
Glaucoma 3A
Irido-corneo-trabecular dysgenesis
CYP1B1-related disorder
Congenital glaucoma
not specified
Myopathy, centronuclear, 5
Anterior segment dysgenesis 6		 Criteria Provided
Conflicting Classifications
 CA119016 rs_79204362

22 SubmittersRCV000008178RCV000023146RCV000059335RCV000489962RCV000709869RCV000778148RCV001083921RCV000844695RCV001258308RCV003466835
NM_000104.4(CYP1B1):c.1267A>T (p.Asn423Tyr) SNV
Germline		 Chr2:38071087 Likely pathogenic Glaucoma, primary open angle, juvenile-onset
Glaucoma 3A
Primary congenital glaucoma
Congenital glaucoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA119017 rs_104893629

3 SubmittersRCV000008183RCV000008184RCV003230351RCV003593857
NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn) SNV
Germline		 Chr2:38075148 Conflicting classifications of pathogenicity Primary open angle glaucoma
not specified
Congenital ocular coloboma
Irido-corneo-trabecular dysgenesis
Congenital glaucoma
Glaucoma 3A
Condition: not provided
Anterior segment dysgenesis		 Criteria Provided
Conflicting Classifications
 CA145182 rs_9282671

8 SubmittersRCV000008185RCV000078126RCV000059337RCV001139670RCV001087298RCV001139671RCV000766838RCV002470703
NM_153766.3(KCNJ1):c.535G>A (p.Ala179Thr) SNV
Germline		 Chr11:128839709 Likely pathogenic Bartter disease type 2
Condition: not provided
Bartter syndrome
Primary congenital glaucoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA120158 rs_104894253

3 SubmittersRCV000009729RCV003555992RCV004579516RCV004526591
NM_000104.4(CYP1B1):c.45G>T (p.Pro15=) SNV
Germline		 Chr2:38075344 Conflicting classifications of pathogenicity Condition: not provided
Congenital glaucoma		 Criteria Provided
Conflicting Classifications
 CA241278 rs_145847992

2 SubmittersRCV000175524RCV003593927
NM_000104.4(CYP1B1):c.958G>T (p.Val320Leu) SNV
Germline		 Chr2:38074431 Conflicting classifications of pathogenicity Condition: not provided
Glaucoma 3A
Anterior segment dysgenesis 6
Glaucoma 3A
Glaucoma 3, primary infantile, B
Congenital glaucoma
not specified		 Criteria Provided
Conflicting Classifications
 CA1619915 rs_72549382

6 SubmittersRCV000312523RCV000490426RCV002485372RCV003758726RCV003488467
NM_000104.4(CYP1B1):c.319C>G (p.Leu107Val) SNV
Germline		 Chr2:38075070 Conflicting classifications of pathogenicity Glaucoma 3A
Irido-corneo-trabecular dysgenesis
not specified
Congenital glaucoma		 Criteria Provided
Conflicting Classifications
 CA1620057 rs_56339482

4 SubmittersRCV000490499RCV001137457RCV002265688RCV003758727
NM_000104.4(CYP1B1):c.46C>T (p.Leu16=) SNV
Germline		 Chr2:38075343 Conflicting classifications of pathogenicity Condition: not provided
Congenital glaucoma		 Criteria Provided
Conflicting Classifications
 CA1620121 rs_9341246

2 SubmittersRCV000292808RCV003758747
NM_000104.4(CYP1B1):c.918G>A (p.Gly306=) SNV
Germline		 Chr2:38074471 Conflicting classifications of pathogenicity Glaucoma 3A
Irido-corneo-trabecular dysgenesis
Congenital glaucoma		 Criteria Provided
Conflicting Classifications
 CA1619934 rs_748708268

2 SubmittersRCV000343927RCV000402292RCV003593950
NM_000104.4(CYP1B1):c.1168C>T (p.Arg390Cys) SNV
Germline		 Chr2:38071186 Pathogenic Glaucoma 3A
Condition: not provided
Primary congenital glaucoma
Congenital glaucoma
Anterior segment dysgenesis 6		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1619847 rs_148542782

5 SubmittersRCV000396035RCV001782854RCV002230703RCV003593949RCV003470319
NM_000104.4(CYP1B1):c.1302G>A (p.Trp434Ter) SNV
Germline		 Chr2:38071052 Pathogenic Congenital glaucoma Criteria Provided
Single Submitter
 CA346327437 rs_893198212

1 SubmittersRCV002231223
NM_000104.4(CYP1B1):c.141C>G (p.Leu47=) SNV
Germline		 Chr2:38075248 Conflicting classifications of pathogenicity Condition: not provided
Congenital glaucoma		 Criteria Provided
Conflicting Classifications
 CA1620103 rs_749463699

2 SubmittersRCV000594537RCV003758873
NM_000104.4(CYP1B1):c.1590T>C (p.Asp530=) SNV
Germline		 Chr2:38070764 Conflicting classifications of pathogenicity Condition: not provided
Congenital glaucoma
Irido-corneo-trabecular dysgenesis
Glaucoma 3A
CYP1B1-related disorder		 Criteria Provided
Conflicting Classifications
 CA1619749 rs_146770394

5 SubmittersRCV000591749RCV001089022RCV001137227RCV001137226RCV004543371
NM_000104.4(CYP1B1):c.1330C>T (p.Arg444Ter) SNV
Germline		 Chr2:38071024 Pathogenic Condition: not provided
Anterior segment dysgenesis 6
Congenital glaucoma
CYP1B1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1619811 rs_377049098

4 SubmittersRCV000627232RCV003465364RCV003758894RCV004533299
NM_000104.4(CYP1B1):c.1169G>A (p.Arg390His) SNV
Germline		 Chr2:38071185 Pathogenic/Likely pathogenic Condition: not provided
Anterior segment dysgenesis 6
Congenital glaucoma
Glaucoma 3A
Primary congenital glaucoma		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_56010818

10 SubmittersRCV000727642RCV002272338RCV003758916RCV003448341RCV003987680
NM_000104.4(CYP1B1):c.985G>A (p.Gly329Ser) SNV
Germline		 Chr2:38074404 Conflicting classifications of pathogenicity Glaucoma 3A
Irido-corneo-trabecular dysgenesis
Primary congenital glaucoma
Congenital glaucoma
Anterior segment dysgenesis 6		 Criteria Provided
Conflicting Classifications
 rs_777678299

4 SubmittersRCV000779328RCV001137342RCV002222636RCV002535652RCV003467305
NM_000104.4(CYP1B1):c.1078T>C (p.Leu360=) SNV
Germline		 Chr2:38071276 Conflicting classifications of pathogenicity Congenital glaucoma
Irido-corneo-trabecular dysgenesis
Glaucoma 3A
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_141245683

3 SubmittersRCV000878809RCV001137339RCV001137338RCV003424434
NM_000104.4(CYP1B1):c.1047T>C (p.Tyr349=) SNV
Germline		 Chr2:38071307 Conflicting classifications of pathogenicity Congenital glaucoma
Irido-corneo-trabecular dysgenesis
Glaucoma 3A		 Criteria Provided
Conflicting Classifications
 rs_775908245

2 SubmittersRCV000877786RCV001137340RCV001137341
NM_000104.4(CYP1B1):c.147C>A (p.Ser49=) SNV
Germline		 Chr2:38075242 Conflicting classifications of pathogenicity Glaucoma 3A
Irido-corneo-trabecular dysgenesis
Congenital glaucoma
CYP1B1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_4987137

3 SubmittersRCV001139676RCV001139677RCV000877836RCV004530877
NM_000104.4(CYP1B1):c.653A>T (p.Asp218Val) SNV
Germline		 Chr2:38074736 Conflicting classifications of pathogenicity Congenital glaucoma
Irido-corneo-trabecular dysgenesis
Glaucoma 3A		 Criteria Provided
Conflicting Classifications
 rs_72549383

2 SubmittersRCV000981656RCV001140340RCV001140341
NM_000104.4(CYP1B1):c.1331G>A (p.Arg444Gln) SNV
Germline		 Chr2:38071023 Pathogenic Congenital glaucoma
Anterior segment dysgenesis
Condition: not provided
Anterior segment dysgenesis 6		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_72549376

4 SubmittersRCV001048522RCV001200037RCV001784600RCV003467754
NM_000104.4(CYP1B1):c.1089C>T (p.Val363=) SNV
Germline		 Chr2:38071265 Conflicting classifications of pathogenicity Glaucoma 3A
Irido-corneo-trabecular dysgenesis
Congenital glaucoma
CYP1B1-related disorder		 Criteria Provided
Conflicting Classifications
 rs_148461905

3 SubmittersRCV001142090RCV001142089RCV003758997RCV004545081
NM_000104.4(CYP1B1):c.711G>T (p.Ala237=) SNV
Germline		 Chr2:38074678 Conflicting classifications of pathogenicity Glaucoma 3A
Irido-corneo-trabecular dysgenesis
Congenital glaucoma		 Criteria Provided
Conflicting Classifications
 rs_780375338

2 SubmittersRCV001140337RCV001139577RCV003594093
NM_000104.4(CYP1B1):c.701C>T (p.Thr234Met) SNV
Germline		 Chr2:38074688 Conflicting classifications of pathogenicity Glaucoma 3A
Anterior segment dysgenesis 6
Glaucoma 3A
Glaucoma 3, primary infantile, B
Irido-corneo-trabecular dysgenesis
Congenital glaucoma
not specified		 Criteria Provided
Conflicting Classifications
 rs_375391843

4 SubmittersRCV001140339RCV002482267RCV001140338RCV003594094RCV001806028
NM_000104.4(CYP1B1):c.592G>A (p.Val198Ile) SNV
Germline		 Chr2:38074797 Conflicting classifications of pathogenicity Irido-corneo-trabecular dysgenesis
Glaucoma 3A
not specified
Congenital glaucoma
Condition: not provided
Anterior segment dysgenesis 6
Glaucoma 3A
Glaucoma 3, primary infantile, B		 Criteria Provided
Conflicting Classifications
 rs_59472972

5 SubmittersRCV001142193RCV001142194RCV002282462RCV003758998RCV001759901RCV002491424
NM_000104.4(CYP1B1):c.498C>G (p.Leu166=) SNV
Germline		 Chr2:38074891 Conflicting classifications of pathogenicity Irido-corneo-trabecular dysgenesis
Glaucoma 3A
Congenital glaucoma		 Criteria Provided
Conflicting Classifications
 rs_775055418

2 SubmittersRCV001142195RCV001142196RCV003758999
NM_000104.4(CYP1B1):c.517G>A (p.Glu173Lys) SNV
Germline		 Chr2:38074872 Pathogenic Primary congenital glaucoma
Anterior segment dysgenesis 6
Congenital glaucoma		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_72481807

3 SubmittersRCV001174931RCV003469294RCV003594097
NM_000104.4(CYP1B1):c.1426T>C (p.Ser476Pro) SNV
Germline		 Chr2:38070928 Conflicting classifications of pathogenicity Condition: not provided
Congenital glaucoma		 Criteria Provided
Conflicting Classifications
 rs_1682416281

2 SubmittersRCV001291586RCV003759042
NM_000104.4(CYP1B1):c.840C>A (p.Cys280Ter) SNV
Germline		 Chr2:38074549 Pathogenic/Likely pathogenic Congenital glaucoma
Condition: not provided
Anterior segment dysgenesis 6		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_778202993

3 SubmittersRCV001390416RCV003145655RCV003469772
NM_000104.4(CYP1B1):c.917G>A (p.Gly306Glu) SNV
Germline		 Chr2:38074472 Conflicting classifications of pathogenicity Congenital glaucoma
not specified
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_372321135

3 SubmittersRCV001496632RCV001732188RCV002563304
NM_000104.4(CYP1B1):c.578C>T (p.Pro193Leu) SNV
Germline		 Chr2:38074811 Likely pathogenic Primary congenital glaucoma
Anterior segment dysgenesis 6
Glaucoma 3A
Glaucoma 3, primary infantile, B
Anterior segment dysgenesis 6		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_529769268

3 SubmittersRCV001526885RCV002506646RCV003470851
NM_000104.4(CYP1B1):c.1A>G (p.Met1Val) SNV
Germline		 Chr2:38075388 Pathogenic/Likely pathogenic Condition: not provided
Primary congenital glaucoma		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_757520959

2 SubmittersRCV001570198RCV002509687
NM_000104.4(CYP1B1):c.1310C>T (p.Pro437Leu) SNV
Germline		 Chr2:38071044 Pathogenic/Likely pathogenic Condition: not provided
Anterior segment dysgenesis 6
Congenital glaucoma		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_56175199

4 SubmittersRCV001658811RCV003470876RCV003594146
NM_000104.4(CYP1B1):c.859G>A (p.Ala287Thr) SNV
Germline		 Chr2:38074530 Conflicting classifications of pathogenicity not specified
Glaucoma 3A
Glaucoma 3, primary infantile, B
Anterior segment dysgenesis 6
Congenital glaucoma		 Criteria Provided
Conflicting Classifications
 rs_201544164

3 SubmittersRCV001844416RCV002482348RCV003759079
NM_000104.4(CYP1B1):c.710C>A (p.Ala237Glu) SNV
Germline		 Chr2:38074679 Pathogenic/Likely pathogenic Glaucoma 3A
Primary congenital glaucoma		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2125316074

2 SubmittersRCV001823034RCV003331212
NM_000104.4(CYP1B1):c.1090G>A (p.Val364Met) SNV
Germline		 Chr2:38071264 Pathogenic Primary congenital glaucoma
Congenital glaucoma
Anterior segment dysgenesis 6		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_72549379

3 SubmittersRCV001825056RCV002034676RCV003470934
NM_000104.4(CYP1B1):c.1033C>T (p.Leu345Phe) SNV
Germline		 Chr2:38074356 Conflicting classifications of pathogenicity not specified
Anterior segment dysgenesis 6
Glaucoma 3A
Glaucoma 3, primary infantile, B
Congenital glaucoma		 Criteria Provided
Conflicting Classifications
 rs_66583685

3 SubmittersRCV001844442RCV002482389RCV003759080
NM_000104.4(CYP1B1):c.1063C>T (p.Arg355Ter) SNV
Germline		 Chr2:38071291 Pathogenic Congenital glaucoma
Anterior segment dysgenesis 6
Primary congenital glaucoma		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_72549381

3 SubmittersRCV001919131RCV003471045RCV003479366
NM_000104.4(CYP1B1):c.55C>T (p.Gln19Ter) SNV
Germline		 Chr2:38075334 Pathogenic Congenital glaucoma
Glaucoma 3A
Glaucoma 3, primary infantile, B
Anterior segment dysgenesis 6
Anterior segment dysgenesis 6		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_72549388

3 SubmittersRCV001953231RCV002484725RCV003471094
NM_000104.4(CYP1B1):c.1102C>T (p.Arg368Cys) SNV
Germline		 Chr2:38071252 Conflicting classifications of pathogenicity Congenital glaucoma
Condition: not provided
not specified
Anterior segment dysgenesis 6		 Criteria Provided
Conflicting Classifications
 rs_72480442

4 SubmittersRCV001978292RCV002267137RCV003235648RCV003471234
NM_000104.4(CYP1B1):c.1168C>A (p.Arg390Ser) SNV
Germline		 Chr2:38071186 Pathogenic Primary congenital glaucoma
Congenital glaucoma
Anterior segment dysgenesis 6		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003404131RCV002664231RCV003465998
NM_000104.4(CYP1B1):c.350G>T (p.Arg117Leu) SNV
Germline		 Chr2:38075039 Pathogenic Congenital glaucoma Criteria Provided
Single Submitter

1 SubmittersRCV003031051
NM_000104.4(CYP1B1):c.317C>A (p.Ala106Asp) SNV
Germline		 Chr2:38075072 Pathogenic Primary congenital glaucoma
Anterior segment dysgenesis 6
Congenital glaucoma		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003324296RCV003466062RCV003594648
NM_000104.4(CYP1B1):c.575A>T (p.Asp192Val) SNV
Germline		 Chr2:38074814 Pathogenic/Likely pathogenic Anterior segment dysgenesis 6
Congenital glaucoma		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003468668RCV003594700
NM_000104.4(CYP1B1):c.1153C>T (p.Leu385Phe) SNV
Germline		 Chr2:38071201 Likely pathogenic Anterior segment dysgenesis 6
Congenital glaucoma		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003468658RCV003594698
NM_000104.4(CYP1B1):c.872A>G (p.Asp291Gly) SNV
Germline		 Chr2:38074517 Pathogenic/Likely pathogenic Anterior segment dysgenesis 6
Congenital glaucoma		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003468665RCV003594699
NM_000104.4(CYP1B1):c.2T>G (p.Met1Arg) SNV
Germline		 Chr2:38075387 Pathogenic Congenital glaucoma Criteria Provided
Single Submitter

1 SubmittersRCV003594999
NM_000104.4(CYP1B1):c.1133T>A (p.Leu378Gln) SNV
Germline		 Chr2:38071221 Likely pathogenic Congenital glaucoma Criteria Provided
Single Submitter

1 SubmittersRCV003595581
NM_000104.4(CYP1B1):c.243C>G (p.Tyr81Ter) SNV
Germline		 Chr2:38075146 Pathogenic Congenital glaucoma Criteria Provided
Single Submitter

1 SubmittersRCV003595582
NM_000104.4(CYP1B1):c.1057C>T (p.Gln353Ter) SNV
Germline		 Chr2:38071297 Pathogenic Congenital glaucoma Criteria Provided
Single Submitter

1 SubmittersRCV003758578
NM_000104.4(CYP1B1):c.218C>A (p.Ser73Ter) SNV
Germline		 Chr2:38075171 Pathogenic/Likely pathogenic Anterior segment dysgenesis 6
Congenital glaucoma		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004573203RCV003759280
NM_000104.4(CYP1B1):c.783C>G (p.Phe261Leu) SNV
Germline		 Chr2:38074606 Likely pathogenic Congenital glaucoma Criteria Provided
Single Submitter

1 SubmittersRCV003760251