Total 94 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
Condition: not provided
Congenital glaucoma
Anterior segment dysgenesis 6
Glaucoma 3A
Anterior segment dysgenesis 6
CYP1B1-related disorder
Primary congenital glaucoma
CYP1B1-related glaucoma with or without anterior segment dysgenesis
Glaucoma 3A
Glaucoma 3, primary infantile, B
Anterior segment dysgenesis 6
Cataract 17 multiple types		 Reviewed By Expert Panel
 CA254237 rs_28936700

22 SubmittersRCV000008169RCV000255452RCV001206715RCV001335112RCV003483427RCV004732534RCV004700202RCV006255119RCV005357093RCV006605180
NM_000104.4(CYP1B1):c.1405C>T (p.Arg469Trp) SNV
Germline		 Chr2:38070949 Pathogenic Glaucoma 3A
Condition: not provided
Primary congenital glaucoma
Congenital glaucoma
Anterior segment dysgenesis 6
CYP1B1-related disorder
Anterior segment dysgenesis 6
Glaucoma 3A
CYP1B1-related glaucoma with or without anterior segment dysgenesis		 Reviewed By Expert Panel
 CA254239 rs_28936701

14 SubmittersRCV000008172RCV000255845RCV003155021RCV002512894RCV003466833RCV004732535RCV005025027RCV006255121
NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys) SNV
Germline		 Chr2:38071195 Pathogenic Glaucoma 3A
Condition: not provided
Glaucoma of childhood
Congenital glaucoma
Primary congenital glaucoma
Anterior segment dysgenesis 6
CYP1B1-related disorder
Glaucoma 3A
Anterior segment dysgenesis 6
CYP1B1-related glaucoma with or without anterior segment dysgenesis		 Reviewed By Expert Panel
 CA254241 rs_55989760

17 SubmittersRCV000008174RCV000724653RCV000791358RCV001201386RCV001375550RCV003466834RCV004732536RCV005003343RCV006255123
NM_000104.4(CYP1B1):c.2T>C (p.Met1Thr) SNV
Germline		 Chr2:38075387 Pathogenic Anterior segment dysgenesis 6
Primary congenital glaucoma
Congenital glaucoma
CYP1B1-related glaucoma with or without anterior segment dysgenesis		 Reviewed By Expert Panel
 CA119012 rs_72549389

4 SubmittersRCV000008175RCV003155022RCV003593856RCV006255124
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter) SNV
Germline		 Chr2:38075218 Pathogenic Irido-corneo-trabecular dysgenesis
Glaucoma 3A
CYP1B1-related disorder
Condition: not provided
Anterior segment dysgenesis 6
Congenital glaucoma
Glaucoma 3A
Glaucoma 3, primary infantile, B
Anterior segment dysgenesis 6
Anterior segment dysgenesis
Glaucoma 3A
Anterior segment dysgenesis 6
CYP1B1-related glaucoma with or without anterior segment dysgenesis		 Reviewed By Expert Panel
 CA119014 rs_72549387

14 SubmittersRCV000008176RCV000169657RCV000331073RCV000489919RCV000416316RCV000692947RCV000763084RCV001200036RCV005025028RCV006255125
NM_000104.4(CYP1B1):c.694G>C (p.Gly232Arg) SNV
Germline		 Chr2:38074695 Likely pathogenic Glaucoma 3A
Primary congenital glaucoma		 Criteria Provided
Single Submitter
 CA254242 rs_104893628

2 SubmittersRCV000008179RCV005237360
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.45G>T (p.Pro15=) SNV
Germline		 Chr2:38075344 Conflicting classifications of pathogenicity Condition: not provided
Congenital glaucoma
Ovarian serous cystadenocarcinoma		 Criteria Provided
Conflicting Classifications
 CA241278 rs_145847992

3 SubmittersRCV000175524RCV003593927RCV005889823
NM_000104.4(CYP1B1):c.958G>T (p.Val320Leu) SNV
Germline		 Chr2:38074431 Conflicting classifications of pathogenicity Condition: not provided
Glaucoma 3A
not specified
Congenital glaucoma
Glaucoma 3A
Glaucoma 3, primary infantile, B
Anterior segment dysgenesis 6		 Criteria Provided
Conflicting Classifications
 CA1619915 rs_72549382

5 SubmittersRCV000312523RCV000490426RCV003488467RCV003758726RCV002485372
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
Anterior segment dysgenesis 6
Congenital glaucoma
Anterior segment dysgenesis 6
Glaucoma 3A
CYP1B1-related glaucoma with or without anterior segment dysgenesis		 Reviewed By Expert Panel
 CA1619847 rs_148542782

7 SubmittersRCV000396035RCV001782854RCV002230703RCV003470319RCV003593949RCV005027434RCV006255168
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
Primary congenital glaucoma
CYP1B1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1619811 rs_377049098

5 SubmittersRCV000627232RCV003465364RCV003758894RCV005431817RCV004533299
NM_000104.4(CYP1B1):c.1169G>A (p.Arg390His) SNV
Germline		 Chr2:38071185 Pathogenic Condition: not provided
Anterior segment dysgenesis 6
Glaucoma 3A
Congenital glaucoma
Primary congenital glaucoma
CYP1B1-related glaucoma with or without anterior segment dysgenesis		 Reviewed By Expert Panel
 CA1619846 rs_56010818

13 SubmittersRCV000727642RCV002272338RCV003448341RCV003758916RCV003987680RCV006255181
NM_000104.4(CYP1B1):c.1078T>C (p.Leu360=) SNV
Germline		 Chr2:38071276 Conflicting classifications of pathogenicity Congenital glaucoma
Glaucoma 3A
Irido-corneo-trabecular dysgenesis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1619867 rs_141245683

3 SubmittersRCV000878809RCV001137338RCV001137339RCV003424434
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
CYP1B1-related disorder		 Criteria Provided
Conflicting Classifications
 CA1619875 rs_775908245

3 SubmittersRCV000877786RCV001137340RCV001137341RCV004733081
NM_000104.4(CYP1B1):c.147C>A (p.Ser49=) SNV
Germline		 Chr2:38075242 Conflicting classifications of pathogenicity Congenital glaucoma
Glaucoma 3A
Irido-corneo-trabecular dysgenesis
CYP1B1-related disorder
Sarcoma		 Criteria Provided
Conflicting Classifications
 CA1620101 rs_4987137

4 SubmittersRCV000877836RCV001139676RCV001139677RCV004530877RCV005907200
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
 CA1619990 rs_72549383

2 SubmittersRCV000981656RCV001140340RCV001140341
NM_000104.4(CYP1B1):c.349C>T (p.Arg117Trp) SNV
Germline		 Chr2:38075040 Likely pathogenic Glaucoma 3A
Anterior segment dysgenesis 6
CYP1B1-related glaucoma with or without anterior segment dysgenesis
Congenital glaucoma		 Reviewed By Expert Panel
 CA346329435 rs_944452644

3 SubmittersRCV001004166RCV003467568RCV006255188RCV006464964
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
Glaucoma 3A
Anterior segment dysgenesis 6
CYP1B1-related glaucoma with or without anterior segment dysgenesis		 Reviewed By Expert Panel
 CA45506175 rs_72549376

6 SubmittersRCV001048522RCV001200037RCV001784600RCV003467754RCV005029611RCV006255190
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
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1619866 rs_148461905

4 SubmittersRCV001142090RCV001142089RCV003758997RCV004545081RCV005318630
NM_000104.4(CYP1B1):c.711G>T (p.Ala237=) SNV
Germline		 Chr2:38074678 Conflicting classifications of pathogenicity Irido-corneo-trabecular dysgenesis
Glaucoma 3A
Congenital glaucoma		 Criteria Provided
Conflicting Classifications
 CA1619980 rs_780375338

2 SubmittersRCV001139577RCV001140337RCV003594093
NM_000104.4(CYP1B1):c.701C>T (p.Thr234Met) SNV
Germline		 Chr2:38074688 Conflicting classifications of pathogenicity Irido-corneo-trabecular dysgenesis
Glaucoma 3A
not specified
Congenital glaucoma
Glaucoma 3A
Glaucoma 3, primary infantile, B
Anterior segment dysgenesis 6		 Criteria Provided
Conflicting Classifications
 CA1619983 rs_375391843

4 SubmittersRCV001140338RCV001140339RCV001806028RCV003594094RCV002482267
NM_000104.4(CYP1B1):c.592G>A (p.Val198Ile) SNV
Germline		 Chr2:38074797 Conflicting classifications of pathogenicity Irido-corneo-trabecular dysgenesis
Glaucoma 3A
Condition: not provided
not specified
Glaucoma 3A
Glaucoma 3, primary infantile, B
Anterior segment dysgenesis 6
Congenital glaucoma		 Criteria Provided
Conflicting Classifications
 CA1620003 rs_59472972

5 SubmittersRCV001142193RCV001142194RCV001759901RCV002282462RCV002491424RCV003758998
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
 CA1620025 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
Anterior segment dysgenesis 6
Glaucoma 3A		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1620018 rs_72481807

4 SubmittersRCV001174931RCV003469294RCV003594097RCV005029734
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
 CA346327188 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
Anterior segment dysgenesis 6
Glaucoma 3A		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1619955 rs_778202993

5 SubmittersRCV001390416RCV003145655RCV003469772RCV005023153
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
 CA1619935 rs_372321135

3 SubmittersRCV001496632RCV001732188RCV002563304
NM_000104.4(CYP1B1):c.578C>T (p.Pro193Leu) SNV
Germline		 Chr2:38074811 Likely pathogenic Primary congenital glaucoma
Glaucoma 3A
Glaucoma 3, primary infantile, B
Anterior segment dysgenesis 6
Anterior segment dysgenesis 6		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1620008 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
Congenital glaucoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1620136 rs_757520959

3 SubmittersRCV001570198RCV002509687RCV005094805
NM_000104.4(CYP1B1):c.1310C>T (p.Pro437Leu) SNV
Germline		 Chr2:38071044 Pathogenic Condition: not provided
Anterior segment dysgenesis 6
Glaucoma 3A
Congenital glaucoma
Anterior segment dysgenesis 6
CYP1B1-related glaucoma with or without anterior segment dysgenesis		 Reviewed By Expert Panel
 CA1619819 rs_56175199

6 SubmittersRCV001658811RCV005023212RCV003594146RCV003470876RCV006255198
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
 CA1619948 rs_201544164

3 SubmittersRCV001844416RCV002482348RCV003759079
NM_000104.4(CYP1B1):c.710C>A (p.Ala237Glu) SNV
Germline		 Chr2:38074679 Likely pathogenic Glaucoma 3A
Primary congenital glaucoma
CYP1B1-related glaucoma with or without anterior segment dysgenesis		 Reviewed By Expert Panel
 CA346328674 rs_2125316074

3 SubmittersRCV001823034RCV003331212RCV006255204
NM_000104.4(CYP1B1):c.1090G>A (p.Val364Met) SNV
Germline		 Chr2:38071264 Pathogenic Primary congenital glaucoma
Congenital glaucoma
Anterior segment dysgenesis 6
Glaucoma 3A
Anterior segment dysgenesis 6
Glaucoma 3A
CYP1B1-related glaucoma with or without anterior segment dysgenesis		 Reviewed By Expert Panel
 CA1619865 rs_72549379

6 SubmittersRCV001825056RCV002034676RCV003470934RCV005023270RCV005860262RCV006255207
NM_000104.4(CYP1B1):c.1033C>T (p.Leu345Phe) SNV
Germline		 Chr2:38074356 Conflicting classifications of pathogenicity not specified
Glaucoma 3A
Glaucoma 3, primary infantile, B
Anterior segment dysgenesis 6
Congenital glaucoma		 Criteria Provided
Conflicting Classifications
 CA1619894 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
Condition: not provided
CYP1B1-related glaucoma with or without anterior segment dysgenesis		 Reviewed By Expert Panel
 CA1619871 rs_72549381

5 SubmittersRCV001919131RCV003471045RCV003479366RCV004699550RCV006255209
NM_000104.4(CYP1B1):c.55C>T (p.Gln19Ter) SNV
Germline		 Chr2:38075334 Pathogenic Congenital glaucoma
Anterior segment dysgenesis 6
Anterior segment dysgenesis 6
Glaucoma 3A		 Criteria Provided
Multiple Submitters
No Conflicts
 CA45512033 rs_72549388

3 SubmittersRCV001953231RCV003471094RCV005002699
NM_000104.4(CYP1B1):c.1102C>T (p.Arg368Cys) SNV
Germline		 Chr2:38071252 Likely pathogenic Congenital glaucoma
Condition: not provided
Anterior segment dysgenesis 6
Primary congenital glaucoma
Anterior segment dysgenesis 6
Glaucoma 3A
CYP1B1-related glaucoma with or without anterior segment dysgenesis		 Reviewed By Expert Panel
 CA1619862 rs_72480442

6 SubmittersRCV001978292RCV002267137RCV003471234RCV005433112RCV005025600RCV006255212
NM_000104.4(CYP1B1):c.1168C>A (p.Arg390Ser) SNV
Germline		 Chr2:38071186 Pathogenic Congenital glaucoma
Anterior segment dysgenesis 6
Primary congenital glaucoma
Glaucoma 3A
CYP1B1-related glaucoma with or without anterior segment dysgenesis		 Reviewed By Expert Panel
 CA1619848 rs_148542782

5 SubmittersRCV002664231RCV003465998RCV003404131RCV004691505RCV006255221
NM_000104.4(CYP1B1):c.350G>T (p.Arg117Leu) SNV
Germline		 Chr2:38075039 Pathogenic Congenital glaucoma Criteria Provided
Single Submitter
 CA346329432 rs_1450783755

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
Anterior segment dysgenesis 6
Glaucoma 3A
CYP1B1-related glaucoma with or without anterior segment dysgenesis		 Reviewed By Expert Panel
 CA1620059 rs_779730090

5 SubmittersRCV003324296RCV003466062RCV003594648RCV005029980RCV006255222
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
 CA346328962 rs_1235928280

2 SubmittersRCV003468668RCV003594700
NM_000104.4(CYP1B1):c.1023G>A (p.Trp341Ter) SNV
Germline		 Chr2:38074366 Pathogenic Anterior segment dysgenesis 6
Congenital glaucoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA346328028 rs_1217351630

2 SubmittersRCV003468674RCV005100266
NM_000104.4(CYP1B1):c.1153C>T (p.Leu385Phe) SNV
Germline		 Chr2:38071201 Likely pathogenic Anterior segment dysgenesis 6
Congenital glaucoma
Primary congenital glaucoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA45506612 rs_920199421

3 SubmittersRCV003468658RCV003594698RCV004801355
NM_000104.4(CYP1B1):c.872A>G (p.Asp291Gly) SNV
Germline		 Chr2:38074517 Pathogenic/Likely pathogenic Anterior segment dysgenesis 6
Congenital glaucoma
Primary congenital glaucoma
Anterior segment dysgenesis 6
Glaucoma 3A		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1619946 rs_72480439

4 SubmittersRCV003468665RCV003594699RCV005062973RCV006257379
NM_000104.4(CYP1B1):c.2T>G (p.Met1Arg) SNV
Germline		 Chr2:38075387 Pathogenic Congenital glaucoma Criteria Provided
Single Submitter
 CA346330095 rs_72549389

1 SubmittersRCV003594999
NM_000104.4(CYP1B1):c.1556A>G (p.Asn519Ser) SNV
Germline		 Chr2:38070798 Conflicting classifications of pathogenicity Congenital glaucoma
not specified		 Criteria Provided
Conflicting Classifications
 CA1619758 rs_750220338

2 SubmittersRCV003595579RCV004701728
NM_000104.4(CYP1B1):c.1133T>A (p.Leu378Gln) SNV
Germline		 Chr2:38071221 Likely pathogenic Congenital glaucoma Criteria Provided
Single Submitter
 CA346327787 rs_1275572421

1 SubmittersRCV003595581
NM_000104.4(CYP1B1):c.243C>G (p.Tyr81Ter) SNV
Germline		 Chr2:38075146 Pathogenic Congenital glaucoma
Glaucoma 3A
Anterior segment dysgenesis 6		 Criteria Provided
Multiple Submitters
No Conflicts
 CA346329644 rs_72480437

2 SubmittersRCV003595582RCV005030107
NM_000104.4(CYP1B1):c.1057C>T (p.Gln353Ter) SNV
Germline		 Chr2:38071297 Pathogenic Congenital glaucoma Criteria Provided
Single Submitter
 CA346327943 rs_1682430086

1 SubmittersRCV003758578
NM_000104.4(CYP1B1):c.218C>A (p.Ser73Ter) SNV
Germline		 Chr2:38075171 Pathogenic/Likely pathogenic Congenital glaucoma
Anterior segment dysgenesis 6		 Criteria Provided
Multiple Submitters
No Conflicts
 CA346329684 rs_903413018

2 SubmittersRCV003759280RCV004573203
NM_000104.4(CYP1B1):c.783C>G (p.Phe261Leu) SNV
Germline		 Chr2:38074606 Likely pathogenic Congenital glaucoma Criteria Provided
Single Submitter
 CA346328522 rs_1558603396

1 SubmittersRCV003760251
NM_000104.4(CYP1B1):c.958G>C (p.Val320Leu) SNV
Germline		 Chr2:38074431 Conflicting classifications of pathogenicity Congenital glaucoma
not specified		 Criteria Provided
Conflicting Classifications
 CA45510259 rs_72549382

2 SubmittersRCV003846683RCV004701851
NM_000104.4(CYP1B1):c.694G>A (p.Gly232Arg) SNV
Germline		 Chr2:38074695 Conflicting classifications of pathogenicity Congenital glaucoma
Glaucoma 3A
Anterior segment dysgenesis 6
Primary congenital glaucoma		 Criteria Provided
Conflicting Classifications
 CA346328704 rs_104893628

3 SubmittersRCV003843390RCV005030317RCV004701849
NM_000104.4(CYP1B1):c.1333T>A (p.Phe445Ile) SNV
Germline		 Chr2:38071021 Pathogenic/Likely pathogenic Glaucoma 3A
Primary congenital glaucoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA346327383 rs_148233007

2 SubmittersRCV004556157RCV004701912
NM_000104.4(CYP1B1):c.1412T>G (p.Ile471Ser) SNV
Germline		 Chr2:38070942 Likely pathogenic Primary congenital glaucoma Criteria Provided
Single Submitter
 rs_147535955

1 SubmittersRCV004587840
NM_000104.4(CYP1B1):c.781T>C (p.Phe261Leu) SNV
Germline		 Chr2:38074608 Likely pathogenic Primary congenital glaucoma
Anterior segment dysgenesis 6
Glaucoma 3A		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004700038RCV005038789
NM_000104.4(CYP1B1):c.325C>T (p.Gln109Ter) SNV
Germline		 Chr2:38075064 Pathogenic Congenital glaucoma Criteria Provided
Single Submitter

1 SubmittersRCV005198124
NM_000104.4(CYP1B1):c.3G>A (p.Met1Ile) SNV
Germline		 Chr2:38075386 Likely pathogenic Primary congenital glaucoma Criteria Provided
Single Submitter

1 SubmittersRCV005409257
NM_000104.4(CYP1B1):c.1568G>C (p.Arg523Thr) SNV
Germline		 Chr2:38070786 Pathogenic CYP1B1-related glaucoma with or without anterior segment dysgenesis
Primary congenital glaucoma		 Reviewed By Expert Panel

2 SubmittersRCV006255286RCV006270051
NM_000104.4(CYP1B1):c.353C>G (p.Pro118Arg) SNV
Germline		 Chr2:38075036 Likely pathogenic Primary congenital glaucoma Criteria Provided
Single Submitter

1 SubmittersRCV006267652
NM_000104.4(CYP1B1):c.625T>C (p.Cys209Arg) SNV
Germline		 Chr2:38074764 Pathogenic Congenital glaucoma Criteria Provided
Single Submitter

1 SubmittersRCV006534113