A total 93 pathogenic variants reported in gene paired like homeodomain 2 (PITX2)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000325.6(PITX2):c.320T>A (p.Leu107Gln) SNV
Germline		 Chr4:110621255 Pathogenic Axenfeld-Rieger syndrome type 1 No Assertion Criteria Provided
 CA119281 rs_104893857

1 SubmittersRCV000008551
NM_000325.6(PITX2):c.411+5G>C SNV
Germline		 Chr4:110621159 Pathogenic Axenfeld-Rieger syndrome type 1 No Assertion Criteria Provided
 CA357985350 rs_1560590094

1 SubmittersRCV000008552
NM_000325.6(PITX2):c.361A>C (p.Thr121Pro) SNV
Germline		 Chr4:110621214 Pathogenic Axenfeld-Rieger syndrome type 1 No Assertion Criteria Provided
 CA119283 rs_104893858

1 SubmittersRCV000008553
NM_000325.6(PITX2):c.412-11A>G SNV
Germline		 Chr4:110618699 Pathogenic Axenfeld-Rieger syndrome type 1
Condition: not provided
Anterior segment dysgenesis 4
Axenfeld-Rieger syndrome type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA649316475 rs_1198152064

4 SubmittersRCV000008554RCV001574968RCV002512913
NM_000325.6(PITX2):c.431G>C (p.Arg144Pro) SNV
Germline		 Chr4:110618669 Pathogenic/Likely pathogenic Axenfeld-Rieger syndrome type 1
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA119285 rs_104893859

3 SubmittersRCV000008555RCV001266803
NM_000325.6(PITX2):c.558G>A (p.Trp186Ter) SNV
Germline		 Chr4:110618542 Pathogenic Axenfeld-Rieger syndrome type 1 Criteria Provided
Single Submitter
 CA119287 rs_104893860

2 SubmittersRCV000008556
NM_000325.6(PITX2):c.409C>T (p.Arg137Trp) SNV
Germline		 Chr4:110621166 Pathogenic Anterior segment dysgenesis 4
Anterior segment dysgenesis		 No Assertion Criteria Provided
 CA119289 rs_121909248

2 SubmittersRCV000008557RCV001200029
NM_000325.6(PITX2):c.365G>A (p.Arg122His) SNV
Germline		 Chr4:110621210 Pathogenic Anterior segment dysgenesis 4
Condition: not provided		 Criteria Provided
Single Submitter
 CA119291 rs_104893861

2 SubmittersRCV000008558RCV000271871
NM_000325.6(PITX2):c.412-2A>T SNV
Germline		 Chr4:110618690 Pathogenic ANTERIOR SEGMENT DYSGENESIS 4, PETERS ANOMALY SUBTYPE No Assertion Criteria Provided
 CA357984549 rs_1553922583

1 SubmittersRCV000008559
NM_000325.6(PITX2):c.406G>C (p.Val136Leu) SNV
Germline		 Chr4:110621169 Pathogenic Axenfeld-Rieger syndrome type 1 No Assertion Criteria Provided
 CA119297 rs_121909249

1 SubmittersRCV000008560
NM_000325.6(PITX2):c.344G>A (p.Arg115His) SNV
Germline		 Chr4:110621231 Pathogenic/Likely pathogenic Ring dermoid of cornea
Anterior segment dysgenesis
Axenfeld-Rieger syndrome type 1
Inborn genetic diseases
Anterior segment dysgenesis 4
Axenfeld-Rieger syndrome type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA119299 rs_104893862

5 SubmittersRCV000008562RCV001200039RCV002293409RCV003242963RCV005222673
NM_000325.6(PITX2):c.421A>G (p.Lys141Glu) SNV
Germline		 Chr4:110618679 Pathogenic Axenfeld-Rieger syndrome type 1 No Assertion Criteria Provided
 CA129016 rs_387906810

1 SubmittersRCV000023116
NM_000325.6(PITX2):c.431G>A (p.Arg144Gln) SNV
Germline		 Chr4:110618669 Conflicting classifications of pathogenicity Condition: not provided
Axenfeld-Rieger syndrome type 1
Anterior segment dysgenesis 4
Axenfeld-Rieger syndrome type 1		 Criteria Provided
Conflicting Classifications
 CA246272 rs_104893859

3 SubmittersRCV000179024RCV001852224RCV002293425
NM_000325.6(PITX2):c.639A>T (p.Ser213=) SNV
Germline		 Chr4:110618461 Conflicting classifications of pathogenicity Condition: not provided
Irido-corneo-trabecular dysgenesis
PITX2-Related Eye Abnormalities
Hypoplasia of the iris
Ring dermoid of cornea
Axenfeld-Rieger syndrome type 1
Cataract
Anterior segment dysgenesis 4
Axenfeld-Rieger syndrome type 1
PITX2-related disorder
Uterine carcinosarcoma		 Criteria Provided
Conflicting Classifications
 CA3045450 rs_141176394

5 SubmittersRCV000270853RCV000291700RCV000295266RCV000348827RCV000352445RCV000383692RCV000391418RCV001088993RCV003930082RCV005895597
NM_000325.6(PITX2):c.*340A>G SNV
Germline		 Chr4:110617785 Conflicting classifications of pathogenicity Irido-corneo-trabecular dysgenesis
PITX2-Related Eye Abnormalities
Cataract
Ring dermoid of cornea
Hypoplasia of the iris
Anterior segment dysgenesis 4
Axenfeld-Rieger syndrome type 1		 Criteria Provided
Conflicting Classifications
 CA10616929 rs_551209662

1 SubmittersRCV000281312RCV000296524RCV000302839RCV000335094RCV000338713RCV000373500RCV000393039
NM_000325.6(PITX2):c.862C>T (p.Leu288=) SNV
Germline		 Chr4:110618238 Conflicting classifications of pathogenicity Ring dermoid of cornea
Axenfeld-Rieger syndrome type 1
Anterior segment dysgenesis 4
PITX2-Related Eye Abnormalities
Cataract
Irido-corneo-trabecular dysgenesis
Hypoplasia of the iris
Anterior segment dysgenesis 4
Axenfeld-Rieger syndrome type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA3045413 rs_139401187

3 SubmittersRCV000262048RCV000296840RCV000312236RCV000354089RCV000369215RCV000403804RCV000408426RCV002057905RCV003437101
NM_000325.6(PITX2):c.224A>C (p.Gln75Pro) SNV
Germline		 Chr4:110621351 Conflicting classifications of pathogenicity Axenfeld-Rieger syndrome type 1
Hypoplasia of the iris
Irido-corneo-trabecular dysgenesis
Ring dermoid of cornea
Cataract
PITX2-Related Eye Abnormalities
Anterior segment dysgenesis 4
Axenfeld-Rieger syndrome type 1
Intellectual disability		 Criteria Provided
Conflicting Classifications
 CA3045542 rs_201628949

3 SubmittersRCV000264197RCV000304723RCV000300585RCV000344354RCV000359478RCV000393111RCV003766004RCV005625557
NM_000325.6(PITX2):c.807T>A (p.Cys269Ter) SNV
Unknown		 Chr4:110618293 Pathogenic Axenfeld-Rieger syndrome type 1 No Assertion Criteria Provided
 CA16044252 rs_1057519489

1 SubmittersRCV000416518
NM_000325.6(PITX2):c.350C>T (p.Pro117Leu) SNV
Germline		 Chr4:110621225 Pathogenic Axenfeld-Rieger syndrome type 1 No Assertion Criteria Provided
 CA16044258 rs_1057519484

1 SubmittersRCV000416527
NM_000325.6(PITX2):c.412-2A>G SNV
Germline		 Chr4:110618690 Pathogenic/Likely pathogenic Axenfeld-Rieger syndrome type 1
Anterior segment dysgenesis 4
Axenfeld-Rieger syndrome type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA357984550 rs_1553922583

2 SubmittersRCV000560514RCV002293457
NM_000325.6(PITX2):c.307C>T (p.Gln103Ter) SNV
Germline		 Chr4:110621268 Pathogenic Rieger anomaly Criteria Provided
Single Submitter
 CA357985590 rs_1553922901

1 SubmittersRCV000584539
NM_000325.6(PITX2):c.619A>G (p.Met207Val) SNV
Germline		 Chr4:110618481 Conflicting classifications of pathogenicity Atrial fibrillation, familial, 1
PITX2-Related Eye Abnormalities
Anterior segment dysgenesis 4
Hypoplasia of the iris
Axenfeld-Rieger syndrome type 1
Ring dermoid of cornea
Cataract
Irido-corneo-trabecular dysgenesis
Axenfeld-Rieger syndrome type 1
Anterior segment dysgenesis 4
PITX2-related disorder		 Criteria Provided
Conflicting Classifications
 CA3045453 rs_138163892

4 SubmittersRCV000754825RCV001145719RCV001148484RCV001148486RCV001145720RCV001148485RCV001148487RCV001145721RCV001361410RCV003411587
NM_000325.6(PITX2):c.273G>A (p.Arg91=) SNV
Germline		 Chr4:110621302 Conflicting classifications of pathogenicity Condition: not provided
Anterior segment dysgenesis 4
Axenfeld-Rieger syndrome type 1		 Criteria Provided
Conflicting Classifications
 CA3045532 rs_149288560

2 SubmittersRCV000732125RCV005213378
NM_000325.6(PITX2):c.534C>G (p.Tyr178Ter) SNV
Germline		 Chr4:110618566 Pathogenic Anterior segment dysgenesis 4
Axenfeld-Rieger syndrome type 1		 Criteria Provided
Single Submitter
 CA357984203 rs_1578446544

1 SubmittersRCV000792252
NM_000325.6(PITX2):c.416G>C (p.Trp139Ser) SNV
Germline		 Chr4:110618684 Pathogenic/Likely pathogenic Anterior segment dysgenesis 4
Axenfeld-Rieger syndrome type 1
Axenfeld-Rieger syndrome type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA357984533 rs_772800095

3 SubmittersRCV000801898RCV002293482
NM_000325.6(PITX2):c.411+2T>G SNV
Germline		 Chr4:110621162 Pathogenic Anterior segment dysgenesis 4
Axenfeld-Rieger syndrome type 1		 Criteria Provided
Single Submitter
 CA357985355 rs_1578450728

1 SubmittersRCV000820117
NM_000325.6(PITX2):c.411+1G>A SNV
Germline		 Chr4:110621163 Pathogenic Axenfeld-Rieger syndrome type 1 Criteria Provided
Multiple Submitters
No Conflicts
 CA357985360 rs_1728998905

2 SubmittersRCV001090057
NM_153427.3(PITX2):c.-79G>A SNV
Germline		 Chr4:110636849 Conflicting classifications of pathogenicity PITX2-Related Eye Abnormalities
Axenfeld-Rieger syndrome type 1
Anterior segment dysgenesis 4
Ring dermoid of cornea
Cataract
Irido-corneo-trabecular dysgenesis
Hypoplasia of the iris		 Criteria Provided
Conflicting Classifications
 CA104048741 rs_535056127

1 SubmittersRCV001145943RCV001145942RCV001148716RCV001145940RCV001145941RCV001148714RCV001148715
NM_153427.3(PITX2):c.-211G>A SNV
Germline		 Chr4:110636981 Conflicting classifications of pathogenicity Axenfeld-Rieger syndrome type 1
Irido-corneo-trabecular dysgenesis
Hypoplasia of the iris
PITX2-Related Eye Abnormalities
Ring dermoid of cornea
Anterior segment dysgenesis 4
Cataract		 Criteria Provided
Conflicting Classifications
 CA104048781 rs_111733107

1 SubmittersRCV001148717RCV001148719RCV001150271RCV001148718RCV001148720RCV001150272RCV001148721
NM_153427.2(PITX2):c.-429C>G SNV
Germline		 Chr4:110637199 Conflicting classifications of pathogenicity Irido-corneo-trabecular dysgenesis
PITX2-Related Eye Abnormalities
Anterior segment dysgenesis 4
Ring dermoid of cornea
Hypoplasia of the iris
Cataract
Axenfeld-Rieger syndrome type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA104048854 rs_985015612

2 SubmittersRCV001144257RCV001144258RCV001144259RCV001144260RCV001150348RCV001150349RCV001150350RCV002292612
NM_153427.2(PITX2):c.-793C>A SNV
Germline		 Chr4:110637563 Conflicting classifications of pathogenicity Cataract
Axenfeld-Rieger syndrome type 1
PITX2-Related Eye Abnormalities
Anterior segment dysgenesis 4
Hypoplasia of the iris
Irido-corneo-trabecular dysgenesis
Ring dermoid of cornea		 Criteria Provided
Conflicting Classifications
 CA104048956 rs_145044365

1 SubmittersRCV001149076RCV001150571RCV001150573RCV001150572RCV001150574RCV001149074RCV001149075
NM_153427.2(PITX2):c.-967C>T SNV
Germline		 Chr4:110637737 Conflicting classifications of pathogenicity Irido-corneo-trabecular dysgenesis
Axenfeld-Rieger syndrome type 1
PITX2-Related Eye Abnormalities
Ring dermoid of cornea
Anterior segment dysgenesis 4
Cataract
Hypoplasia of the iris		 Criteria Provided
Conflicting Classifications
 CA104049017 rs_368647502

1 SubmittersRCV001146418RCV001146419RCV001149187RCV001146414RCV001146415RCV001146416RCV001146417
NM_153427.2(PITX2):c.-1532C>A SNV
Germline		 Chr4:110642066 Conflicting classifications of pathogenicity PITX2-Related Eye Abnormalities
Hypoplasia of the iris
Cataract
Anterior segment dysgenesis 4
Ring dermoid of cornea
Irido-corneo-trabecular dysgenesis
Axenfeld-Rieger syndrome type 1		 Criteria Provided
Conflicting Classifications
 CA104049990 rs_117231596

1 SubmittersRCV001147656RCV001147655RCV001151000RCV001150999RCV001147652RCV001147653RCV001147654
NM_153427.2(PITX2):c.-1385+12T>C SNV
Germline		 Chr4:110641907 Conflicting classifications of pathogenicity Hypoplasia of the iris
PITX2-Related Eye Abnormalities
Anterior segment dysgenesis 4
Ring dermoid of cornea
Axenfeld-Rieger syndrome type 1
Irido-corneo-trabecular dysgenesis
Cataract		 Criteria Provided
Conflicting Classifications
 CA104049952 rs_140614517

1 SubmittersRCV001147563RCV001147565RCV001147564RCV001147559RCV001147560RCV001147561RCV001147562
NM_000325.6(PITX2):c.383G>A (p.Trp128Ter) SNV
Germline		 Chr4:110621192 Pathogenic Anterior segment dysgenesis 4
Axenfeld-Rieger syndrome type 1		 Criteria Provided
Single Submitter
 CA357985420 rs_1729000976

1 SubmittersRCV001217543
NM_000325.6(PITX2):c.332T>C (p.Phe111Ser) SNV
Germline		 Chr4:110621243 Likely pathogenic Anterior segment dysgenesis 4 Criteria Provided
Single Submitter
 CA357985536 rs_1729003669

1 SubmittersRCV001269467
NM_000325.6(PITX2):c.430C>T (p.Arg144Trp) SNV
Germline		 Chr4:110618670 Likely pathogenic Axenfeld-Rieger syndrome type 1
Anterior segment dysgenesis 4
Axenfeld-Rieger syndrome type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA357984492 rs_1057519485

3 SubmittersRCV001379880RCV002293534RCV004720887
NM_000325.6(PITX2):c.286C>T (p.Arg96Trp) SNV
Germline		 Chr4:110621289 Pathogenic/Likely pathogenic Axenfeld-Rieger syndrome type 1
Anterior segment dysgenesis 4
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA357985641 rs_2110435742

2 SubmittersRCV001383407RCV001780324
NM_000325.6(PITX2):c.208A>T (p.Lys70Ter) SNV
Germline		 Chr4:110621367 Likely pathogenic Axenfeld-Rieger syndrome type 1 Criteria Provided
Single Submitter
 CA357985815 rs_2110435882

1 SubmittersRCV001825120
NM_000325.6(PITX2):c.522C>G (p.Tyr174Ter) SNV
Germline		 Chr4:110618578 Pathogenic/Likely pathogenic Axenfeld-Rieger syndrome type 1
Anterior segment dysgenesis 4
Axenfeld-Rieger syndrome type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA357984236 rs_951710742

3 SubmittersRCV001989873RCV002290812
NM_000325.6(PITX2):c.316G>T (p.Glu106Ter) SNV
Germline		 Chr4:110621259 Pathogenic Axenfeld-Rieger syndrome type 1
Anterior segment dysgenesis 4		 Criteria Provided
Single Submitter
 CA357985570 rs_1051887

1 SubmittersRCV001922553
NM_000325.6(PITX2):c.220C>T (p.Gln74Ter) SNV
Germline		 Chr4:110621355 Pathogenic Axenfeld-Rieger syndrome type 1 Criteria Provided
Single Submitter
 CA357985785 rs_2529773540

1 SubmittersRCV002293556
NM_000325.6(PITX2):c.557G>A (p.Trp186Ter) SNV
Germline		 Chr4:110618543 Pathogenic Axenfeld-Rieger syndrome type 1 Criteria Provided
Single Submitter
 CA357984142 rs_2476656626

1 SubmittersRCV002293560
NM_000325.6(PITX2):c.296T>C (p.Phe99Ser) SNV
Germline		 Chr4:110621279 Likely pathogenic Axenfeld-Rieger syndrome type 1 Criteria Provided
Single Submitter
 CA357985618 rs_2529773099

1 SubmittersRCV002293566
NM_000325.6(PITX2):c.406G>T (p.Val136Phe) SNV
Germline		 Chr4:110621169 Likely pathogenic Axenfeld-Rieger syndrome type 1 Criteria Provided
Single Submitter
 CA357985369 rs_121909249

1 SubmittersRCV002293567
NM_000325.6(PITX2):c.417G>T (p.Trp139Cys) SNV
Germline		 Chr4:110618683 Pathogenic Axenfeld-Rieger syndrome type 1 Criteria Provided
Single Submitter
 CA357984530 rs_2476658161

1 SubmittersRCV002293568
NM_000325.6(PITX2):c.418T>C (p.Phe140Leu) SNV
Germline		 Chr4:110618682 Likely pathogenic Axenfeld-Rieger syndrome type 1 Criteria Provided
Single Submitter
 CA357984529 rs_2476658147

1 SubmittersRCV002293569
NM_000325.6(PITX2):c.428G>C (p.Arg143Pro) SNV
Germline		 Chr4:110618672 Pathogenic Axenfeld-Rieger syndrome type 1 Criteria Provided
Single Submitter
 CA357984497 rs_2476658099

1 SubmittersRCV002293570
NM_000325.6(PITX2):c.384G>A (p.Trp128Ter) SNV
Germline		 Chr4:110621191 Pathogenic Axenfeld-Rieger syndrome type 1 Criteria Provided
Single Submitter
 CA357985416 rs_2529772680

1 SubmittersRCV002293581
NM_000325.6(PITX2):c.412-1G>A SNV
Germline		 Chr4:110618689 Pathogenic Axenfeld-Rieger syndrome type 1 Criteria Provided
Single Submitter
 CA357984548 rs_2476658214

1 SubmittersRCV002293591
NM_000325.6(PITX2):c.350C>G (p.Pro117Arg) SNV
Germline		 Chr4:110621225 Pathogenic Axenfeld-Rieger syndrome type 1
Anterior segment dysgenesis 4		 Criteria Provided
Single Submitter
 CA357985493 rs_1057519484

1 SubmittersRCV002651846
NM_000325.6(PITX2):c.308A>G (p.Gln103Arg) SNV
Germline		 Chr4:110621267 Likely pathogenic PITX2-related disorder Criteria Provided
Single Submitter
 CA357985588 rs_2529773049

1 SubmittersRCV003394439
NM_000325.6(PITX2):c.376G>C (p.Ala126Pro) SNV
Germline		 Chr4:110621199 Pathogenic Anterior segment dysgenesis 4
Axenfeld-Rieger syndrome type 1		 Criteria Provided
Single Submitter
 CA357985434 rs_2110435645

1 SubmittersRCV003807732
NM_000325.6(PITX2):c.250G>T (p.Glu84Ter) SNV
Germline		 Chr4:110621325 Pathogenic Anterior segment dysgenesis 4
Axenfeld-Rieger syndrome type 1		 Criteria Provided
Single Submitter
 CA357985722 rs_765382079

1 SubmittersRCV003809956
NM_000325.6(PITX2):c.206-1G>A SNV
Germline		 Chr4:110621370 Pathogenic Condition: not provided
Cervical cancer		 Criteria Provided
Single Submitter

2 SubmittersRCV004697963RCV005933914
NM_000325.6(PITX2):c.857C>T (p.Ser286Leu) SNV
Germline		 Chr4:110618243 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV004720153