| - GRCh37:
- Chr4:97014044-137331362
- GRCh38:
- Chr4:96092893-136410207
| ABHD18, ADAD1, ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, AIMP1, ALPK1, ANK2, ANKRD50, ANXA5, AP1AR, ARHGEF38, ARHGEF38-IT1, ARSJ, BANK1, BBS12, BBS7, BDH2, C4orf17, C4orf3, C4orf33, C4orf54, CAMK2D, CASP6, CCNA2, CENPE, CFI, CISD2, COL25A1, COL25A1-DT, CXXC4, CXXC4-AS1, CYP2U1, CYP2U1-AS1, DAPP1, DDIT4L, DDIT4L-AS1, DKK2, DNAJB14, EGF, EIF4E, ELOVL6, EMCN, ENPEP, ETNPPL, EXOSC9, FABP2, FAM241A, FAT4, FGF2, FLJ20021, GAR1, GIMD1, GSTCD, GSTCD-AS1, H2AZ1, H2AZ1-DT, HADH, HSPA4L, IL2, IL21, IL21-AS1, INTS12, INTU, JADE1, KIAA1109, LAMTOR3, LARP1B, LARP7, LEF1, LEF1-AS1, LINC00613, LINC01061, LINC01091, LINC01216, LINC01217, LINC01218, LINC01256, LINC01365, LINC01378, LINC02173, LINC02262, LINC02263, LINC02264, LINC02267, LINC02377, LINC02379, LINC02428, LINC02462, LINC02465, LINC02466, LINC02479, LINC02485, LINC02502, LINC02516, LINC02615, LOC100507053, LOC101929577, LOC101929621, LOC101929762, LOC102723704, LOC105377621, LOC107986192, LOC109113863, LOC110120634, LOC110120703, LOC110120805, LOC110120806, LOC110120819, LOC110120975, LOC110121089, LOC110121129, LOC110121138, LOC110121150, LOC111188164, LOC111216272, LOC111216273, LOC111216288, LOC111216289, LOC111216290, LOC111216291, LOC111216292, LOC111240471, LOC111413048, LOC111591508, LOC112935970, LOC112935971, LOC112935972, LOC112935973, LOC112935974, LOC112935975, LOC112935976, LOC112935977, LOC112935978, LOC112935979, LOC112935980, LOC112939918, LOC116158504, LOC116158505, LOC116158506, LOC116158507, LOC121053189, LOC121053190, LOC121053191, LOC121053192, LOC121056741, LOC121056742, LOC121056743, LOC121725179, LOC121725180, LOC121725181, LOC121725182, LOC121725183, LOC121725185, LOC121725186, LOC121725187, LOC121725188, LOC123477791, LOC123477792, LOC123477793, LOC123477794, LOC123477795, LOC123477796, LOC123477797, LOC123477798, LOC123477799, LOC123477800, LOC123477801, LOC123477802, LOC123477803, LOC123477804, LOC123477805, LOC123477806, LOC123477807, LOC123477808, LOC123477809, LOC123477810, LOC123480920, LOC123480921, LOC123480922, LOC123480923, LOC123480924, LOC123480925, LOC123480926, LOC123480927, LOC123480928, LOC123480929, LOC123480930, LOC123480931, LOC123480932, LOC123480933, LOC123480934, LOC123480935, LRIT3, MAD2L1, MAD2L1-DT, MANBA, MCUB, METAP1, METTL14, METTL14-DT, MFSD8, MIR1243, MIR1255A, MIR1973, MIR2054, MIR297, MIR302A, MIR302B, MIR302C, MIR302CHG, MIR302D, MIR367, MIR3684, MIR576, MIR577, MIR8066, MIR8082, MTTP, MYOZ2, NDNF, NDNF-AS1, NDST3, NDST4, NEUROG2, NEUROG2-AS1, NFKB1, NPNT, NUDT6, OSTC, PABPC4L, PANCR, PAPSS1, PCDH10, PCDH10-DT, PDE5A, PGRMC2, PITX2, PLA2G12A, PLK4, PP12613, PPA2, PPP3CA, PRDM5, PRSS12, QRFPR, RAP1GDS1, RPL34, RPL34-DT, RRH, SCLT1, SEC24B, SEC24B-AS1, SEC24D, SGMS2, SLC25A31, SLC39A8, SLC9B1, SLC9B2, SMIM43, SNHG27, SNHG8, SNORA101A, SNORA24, SPATA5, SPRY1, STPG2, STPG2-AS1, SYNPO2, TACR3, TBCK, TET2, TET2-AS1, TIFA, TNIP3, TRAM1L1, TRC-GCA2-1, TRMT10A, TRPC3, TSPAN5, TSPAN5-DT, UBE2D3, UBE2D3-AS1, UGT8, USP53, ZGRF1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter | VCV000058033 |
| - GRCh37:
- Chr4:111538585
- GRCh38:
- Chr4:110617429
| PITX2 | | PITX2-Related Eye Abnormalities, Irido-corneo-trabecular dysgenesis, Cataract, Axenfeld-Rieger syndrome type 1, Ring dermoid of cornea, Anterior segment dysgenesis 4, Hypoplasia of the iris | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter | VCV000901346 |
| - GRCh37:
- Chr4:111538594
- GRCh38:
- Chr4:110617438
| PITX2 | | PITX2-Related Eye Abnormalities, Irido-corneo-trabecular dysgenesis, Cataract, Axenfeld-Rieger syndrome type 1, Ring dermoid of cornea, Anterior segment dysgenesis 4, Hypoplasia of the iris | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter | VCV000901347 |
| - GRCh37:
- Chr4:111538670
- GRCh38:
- Chr4:110617514
| PITX2 | | PITX2-Related Eye Abnormalities, Irido-corneo-trabecular dysgenesis, Cataract, Ring dermoid of cornea, Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1, Hypoplasia of the iris | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter | VCV000347288 |
| - GRCh37:
- Chr4:111538709
- GRCh38:
- Chr4:110617553
| PITX2 | | PITX2-Related Eye Abnormalities, Irido-corneo-trabecular dysgenesis, Cataract, Ring dermoid of cornea, Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1, Hypoplasia of the iris | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter | VCV000347289 |
| - GRCh37:
- Chr4:111538759
- GRCh38:
- Chr4:110617603
| PITX2 | | PITX2-Related Eye Abnormalities, Irido-corneo-trabecular dysgenesis, Cataract, Ring dermoid of cornea, Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1, Hypoplasia of the iris | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter | VCV000347290 |
| - GRCh37:
- Chr4:111538810
- GRCh38:
- Chr4:110617654
| PITX2 | | PITX2-Related Eye Abnormalities, Irido-corneo-trabecular dysgenesis, Cataract, Ring dermoid of cornea, Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1, Hypoplasia of the iris | Benign (Jan 13, 2018) | criteria provided, single submitter | VCV000347291 |
| - GRCh37:
- Chr4:111538827
- GRCh38:
- Chr4:110617671
| PITX2 | | PITX2-Related Eye Abnormalities, not provided, Axenfeld-Rieger syndrome type 1, Ring dermoid of cornea, Hypoplasia of the iris, Irido-corneo-trabecular dysgenesis, Cataract, Anterior segment dysgenesis 1 | Benign (May 14, 2021) | criteria provided, multiple submitters, no conflicts | VCV000183253 |
| - GRCh37:
- Chr4:111538841
- GRCh38:
- Chr4:110617685
| PITX2 | | PITX2-Related Eye Abnormalities, Cataract, Irido-corneo-trabecular dysgenesis, Ring dermoid of cornea, Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1, Hypoplasia of the iris | Uncertain significance (Feb 2, 2018) | criteria provided, single submitter | VCV000902850 |
| - GRCh37:
- Chr4:111538903-111538905
- GRCh38:
- Chr4:110617747-110617749
| PITX2 | | Axenfeld-Rieger syndrome, PITX2-Related Eye Abnormalities, Anterior segment dysgenesis 1, Irido-corneo-trabecular dysgenesis, Cataract, Ring dermoid of cornea, Anterior segment dysgenesis 4 | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter | VCV000347292 |
| - GRCh37:
- Chr4:111538911
- GRCh38:
- Chr4:110617755
| PITX2 | | PITX2-Related Eye Abnormalities, Irido-corneo-trabecular dysgenesis, Cataract, Ring dermoid of cornea, Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1, Hypoplasia of the iris | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter | VCV000347293 |
| - GRCh37:
- Chr4:111538941
- GRCh38:
- Chr4:110617785
| PITX2 | | PITX2-Related Eye Abnormalities, Irido-corneo-trabecular dysgenesis, Cataract, Ring dermoid of cornea, Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1, Hypoplasia of the iris | Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations | VCV000347294 |
| - GRCh37:
- Chr4:111539017
- GRCh38:
- Chr4:110617861
| PITX2 | | PITX2-Related Eye Abnormalities, Anterior segment dysgenesis 1, Irido-corneo-trabecular dysgenesis, Cataract, Ring dermoid of cornea, Axenfeld-Rieger syndrome type 1, Hypoplasia of the iris | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter | VCV000347295 |
| - GRCh37:
- Chr4:111539105
- GRCh38:
- Chr4:110617949
| PITX2 | | PITX2-Related Eye Abnormalities, Irido-corneo-trabecular dysgenesis, Cataract, Ring dermoid of cornea, Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1, Hypoplasia of the iris | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter | VCV000347296 |
| - GRCh37:
- Chr4:111539108
- GRCh38:
- Chr4:110617952
| PITX2 | | PITX2-Related Eye Abnormalities, Irido-corneo-trabecular dysgenesis, Cataract, Axenfeld-Rieger syndrome type 1, Ring dermoid of cornea, Anterior segment dysgenesis 4, Hypoplasia of the iris | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter | VCV000900360 |
| - GRCh37:
- Chr4:111539162
- GRCh38:
- Chr4:110618006
| PITX2 | | PITX2-Related Eye Abnormalities, Anterior segment dysgenesis 1, Irido-corneo-trabecular dysgenesis, Cataract, Ring dermoid of cornea, Axenfeld-Rieger syndrome type 1, Hypoplasia of the iris | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter | VCV000347297 |
| - GRCh37:
- Chr4:111539174
- GRCh38:
- Chr4:110618018
| PITX2 | | PITX2-Related Eye Abnormalities, Irido-corneo-trabecular dysgenesis, Cataract, Ring dermoid of cornea, Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4, Hypoplasia of the iris | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter | VCV000901514 |
| - GRCh37:
- Chr4:111539205-111543628
- GRCh38:
- Chr4:110618049-110622472
| PITX2 | | Axenfeld-Rieger syndrome type 1 | Pathogenic (Jul 31, 2015) | no assertion criteria provided | VCV000375443 |
| - GRCh37:
- Chr4:111539315
- GRCh38:
- Chr4:110618159
| PITX2 | S314N, S307N, S261N | Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4 | Uncertain significance (Apr 16, 2019) | criteria provided, single submitter | VCV000849729 |
| - GRCh37:
- Chr4:111539337-111542501
- GRCh38:
- Chr4:110618181-110621345
| PITX2 | | Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1 | Likely pathogenic (Mar 25, 2017) | criteria provided, single submitter | VCV000474009 |
| - GRCh37:
- Chr4:111539340
- GRCh38:
- Chr4:110618184
| PITX2 | V253M, V299M, V306M | Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4 | Uncertain significance (Sep 12, 2018) | criteria provided, single submitter | VCV000648326 |
| - GRCh37:
- Chr4:111539354
- GRCh38:
- Chr4:110618198
| PITX2 | F248C, F294C, F301C | not provided | Uncertain significance (Sep 16, 2018) | no assertion criteria provided | VCV000591909 |
| - GRCh37:
- Chr4:111539394
- GRCh38:
- Chr4:110618238
| PITX2 | | PITX2-Related Eye Abnormalities, Irido-corneo-trabecular dysgenesis, Cataract, Ring dermoid of cornea, Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4, Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1, Hypoplasia of the iris
| Conflicting interpretations of pathogenicity (Feb 19, 2021) | criteria provided, conflicting interpretations | VCV000347298 |
| - GRCh37:
- Chr4:111539437
- GRCh38:
- Chr4:110618281
| PITX2 | | Axenfeld-Rieger syndrome type 1, Ring dermoid of cornea, Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4, Anterior segment dysgenesis 1, Hypoplasia of the iris, Irido-corneo-trabecular dysgenesis, not specified, Cataract, PITX2-Related Eye Abnormalities | Benign/Likely benign (Dec 31, 2019) | criteria provided, multiple submitters, no conflicts | VCV000167472 |
| - GRCh37:
- Chr4:111539440
- GRCh38:
- Chr4:110618284
| PITX2 | | Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4 | Likely benign (Sep 23, 2021) | criteria provided, single submitter | VCV001660721 |
| - GRCh37:
- Chr4:111539442-111539443
- GRCh38:
- Chr4:110618286-110618287
| PITX2 | A265fs, A272fs, A219fs | not provided | Pathogenic (Oct 1, 2019) | criteria provided, single submitter | VCV000871112 |
| - GRCh37:
- Chr4:111539444
- GRCh38:
- Chr4:110618288
| PITX2 | Y218F, Y264F, Y271F | not provided | Uncertain significance (Aug 20, 2013) | criteria provided, single submitter | VCV000096521 |
| - GRCh37:
- Chr4:111539449
- GRCh38:
- Chr4:110618293
| PITX2 | C216*, C262*, C269* | Axenfeld-Rieger syndrome type 1 | Pathogenic | no assertion criteria provided | VCV000375442 |
| - GRCh37:
- Chr4:111539461
- GRCh38:
- Chr4:110618305
| PITX2 | | not provided | Likely benign (May 11, 2018) | criteria provided, single submitter | VCV000772691 |
| - GRCh37:
- Chr4:111539471-111539472
- GRCh38:
- Chr4:110618315-110618316
| PITX2 | S255fs, S262fs, S209fs | Axenfeld-Rieger syndrome type 1 | Pathogenic (Nov 24, 2009) | no assertion criteria provided | VCV000375441 |
| - GRCh37:
- Chr4:111539521-111539542
- GRCh38:
- Chr4:110618365-110618386
| PITX2 | T232fs, T239fs, T186fs | Axenfeld-Rieger syndrome type 1 | Pathogenic (May 11, 2015) | no assertion criteria provided | VCV000375440 |
| - GRCh37:
- Chr4:111539539-111539540
- GRCh38:
- Chr4:110618383-110618384
| PITX2 | | Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1 | Pathogenic (Nov 4, 2021) | criteria provided, single submitter | VCV001455159 |
| - GRCh37:
- Chr4:111539561
- GRCh38:
- Chr4:110618405
| PITX2 | S179N, S232N, S225N | PITX2-Related Eye Abnormalities, Irido-corneo-trabecular dysgenesis, Cataract, Axenfeld-Rieger syndrome type 1, Ring dermoid of cornea, Anterior segment dysgenesis 4, Hypoplasia of the iris | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter | VCV000900415 |
| - GRCh37:
- Chr4:111539617
- GRCh38:
- Chr4:110618461
| PITX2 | | Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4, PITX2-Related Eye Abnormalities, Irido-corneo-trabecular dysgenesis, Anterior segment dysgenesis 1, Hypoplasia of the iris, not provided, Cataract, Axenfeld-Rieger syndrome type 1, Ring dermoid of cornea | Conflicting interpretations of pathogenicity (Dec 31, 2019) | criteria provided, conflicting interpretations | VCV000283383 |
| - GRCh37:
- Chr4:111539637
- GRCh38:
- Chr4:110618481
| PITX2 | M154V, M207V, M200V | Irido-corneo-trabecular dysgenesis, Atrial fibrillation, familial, 1, PITX2-Related Eye Abnormalities, Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4, Cataract, Anterior segment dysgenesis 4, Ring dermoid of cornea, Axenfeld-Rieger syndrome type 1, Hypoplasia of the iris | Conflicting interpretations of pathogenicity (Jun 26, 2020) | criteria provided, conflicting interpretations | VCV000559593 |
| - GRCh37:
- Chr4:111539638
- GRCh38:
- Chr4:110618482
| PITX2 | | Irido-corneo-trabecular dysgenesis, not provided, Ring dermoid of cornea, Axenfeld-Rieger syndrome type 1, Hypoplasia of the iris, Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 1, not specified, PITX2-Related Eye Abnormalities, Cataract ...see more | Benign/Likely benign (Nov 25, 2020) | criteria provided, multiple submitters, no conflicts | VCV000262718 |
| - GRCh37:
- Chr4:111539664
- GRCh38:
- Chr4:110618508
| PITX2 | T145S, T191S, T198S | Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4 | Likely benign (Aug 31, 2021) | criteria provided, single submitter | VCV001659615 |
| - GRCh37:
- Chr4:111539676
- GRCh38:
- Chr4:110618520
| PITX2 | A141T, A187T, A194T | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided | VCV000161569 |
| - GRCh37:
- Chr4:111539694
- GRCh38:
- Chr4:110618538
| PITX2 | A135T, A181T, A188T | Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4, Ring dermoid of cornea, Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4, Cataract, Irido-corneo-trabecular dysgenesis, not provided, Hypoplasia of the iris, PITX2-Related Eye Abnormalities, not specified ...see more | Benign/Likely benign (Jun 15, 2021) | criteria provided, multiple submitters, no conflicts | VCV000197884 |
| - GRCh37:
- Chr4:111539698
- GRCh38:
- Chr4:110618542
| PITX2 | W133*, W179*, W186* | Axenfeld-Rieger syndrome type 1 | Pathogenic (Dec 1, 1996) | no assertion criteria provided | VCV000008088 |
| - GRCh37:
- Chr4:111539722
- GRCh38:
- Chr4:110618566
| PITX2 | Y171*, Y125*, Y178* | Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4 | Pathogenic (Jul 24, 2018) | criteria provided, single submitter | VCV000639456 |
| - GRCh37:
- Chr4:111539733-111539734
- GRCh38:
- Chr4:110618577-110618578
| PITX2 | | Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4 | Pathogenic (Jul 22, 2019) | criteria provided, single submitter | VCV000937285 |
| - GRCh37:
- Chr4:111539734
- GRCh38:
- Chr4:110618578
| PITX2 | Y167*, Y174*, Y121* | Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1 | Pathogenic (Aug 12, 2021) | criteria provided, single submitter | VCV001449912 |
| - GRCh37:
- Chr4:111539755-111539756
- GRCh38:
- Chr4:110618599-110618600
| PITX2 | N115fs, N168fs, N161fs | Anterior segment dysgenesis | Pathogenic (Mar 31, 2020) | no assertion criteria provided | VCV000932289 |
| - GRCh37:
- Chr4:111539761
- GRCh38:
- Chr4:110618605
| PITX2 | | not provided | Likely benign (Nov 20, 2017) | criteria provided, single submitter | VCV000725771 |
| - GRCh37:
- Chr4:111539807-111539808
- GRCh38:
- Chr4:110618651-110618652
| PITX2 | R97fs, R143fs, R150fs | Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1 | Pathogenic (Sep 18, 2021) | criteria provided, single submitter | VCV001458040 |
| - GRCh37:
- Chr4:111539823
- GRCh38:
- Chr4:110618667
| PITX2 | A92P, A138P, A145P | Axenfeld-Rieger syndrome type 1 | Uncertain significance (Nov 7, 2014) | no assertion criteria provided | VCV000375439 |
| - GRCh37:
- Chr4:111539825
- GRCh38:
- Chr4:110618669
| PITX2 | R91Q, R144Q, R137Q | Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4, not provided
| Uncertain significance (Oct 2, 2021) | criteria provided, multiple submitters, no conflicts | VCV000197883 |
| - GRCh37:
- Chr4:111539825
- GRCh38:
- Chr4:110618669
| PITX2 | R91P, R144P, R137P | Inborn genetic diseases, Axenfeld-Rieger syndrome type 1 | Likely pathogenic (Dec 13, 2018) | criteria provided, single submitter | VCV000008087 |
| - GRCh37:
- Chr4:111539826
- GRCh38:
- Chr4:110618670
| PITX2 | R137W, R144W, R91W | Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4 | Likely pathogenic (May 6, 2020) | criteria provided, single submitter | VCV001068355 |
| - GRCh37:
- Chr4:111539826
- GRCh38:
- Chr4:110618670
| PITX2 | R91G, R137G, R144G | Axenfeld-Rieger syndrome type 1 | Uncertain significance (Nov 21, 2014) | no assertion criteria provided | VCV000375438 |
| - GRCh37:
- Chr4:111539835
- GRCh38:
- Chr4:110618679
| PITX2 | K88E, K141E, K134E | Axenfeld-Rieger syndrome type 1 | Pathogenic (Mar 1, 2003) | no assertion criteria provided | VCV000030197 |
| - GRCh37:
- Chr4:111539840
- GRCh38:
- Chr4:110618684
| PITX2 | W139S, W86S, W132S | Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4 | Pathogenic (Oct 1, 2018) | criteria provided, single submitter | VCV000647394 |
| - GRCh37:
- Chr4:111539846
- GRCh38:
- Chr4:110618690
| PITX2 | | Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4 | Likely pathogenic (Oct 27, 2016) | criteria provided, single submitter | VCV000474011 |
| - GRCh37:
- Chr4:111539846
- GRCh38:
- Chr4:110618690
| PITX2 | | ANTERIOR SEGMENT DYSGENESIS 4, PETERS ANOMALY SUBTYPE | Pathogenic (Feb 1, 1999) | no assertion criteria provided | VCV000008091 |
| - GRCh37:
- Chr4:111539851
- GRCh38:
- Chr4:110618695
| PITX2 | | PITX2-Related Eye Abnormalities, Irido-corneo-trabecular dysgenesis, Cataract, Ring dermoid of cornea, Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4, Hypoplasia of the iris | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter | VCV000899414 |
| - GRCh37:
- Chr4:111539855
- GRCh38:
- Chr4:110618699
| PITX2 | | Axenfeld-Rieger syndrome, PITX2-Related Eye Abnormalities, Anterior segment dysgenesis 1, Irido-corneo-trabecular dysgenesis, Cataract, Ring dermoid of cornea, Anterior segment dysgenesis 4 | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter | VCV000347299 |
| - GRCh37:
- Chr4:111539855
- GRCh38:
- Chr4:110618699
| PITX2 | | not provided, Axenfeld-Rieger syndrome type 1 | Pathogenic (Nov 22, 2019) | criteria provided, single submitter | VCV000008086 |
| - GRCh37:
- Chr4:111539946
- GRCh38:
- Chr4:110618790
| PITX2 | | not provided | Likely benign (Jul 31, 2018) | criteria provided, single submitter | VCV001218185 |
| - GRCh37:
- Chr4:111540115
- GRCh38:
- Chr4:110618959
| PITX2 | | not provided | Likely benign (Aug 18, 2019) | criteria provided, single submitter | VCV001200825 |
| - GRCh37:
- Chr4:111542124
- GRCh38:
- Chr4:110620968
| PITX2 | | not provided | Benign (Jun 26, 2018) | criteria provided, single submitter | VCV001296541 |
| - GRCh37:
- Chr4:111542154
- GRCh38:
- Chr4:110620998
| PITX2 | | not provided | Benign (Jul 27, 2018) | criteria provided, single submitter | VCV001238490 |
| - GRCh37:
- Chr4:111542315
- GRCh38:
- Chr4:110621159
| PITX2 | | Axenfeld-Rieger syndrome type 1 | Pathogenic (Dec 1, 1996) | no assertion criteria provided | VCV000008084 |
| - GRCh37:
- Chr4:111542318
- GRCh38:
- Chr4:110621162
| PITX2 | | Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4 | Pathogenic (Sep 12, 2018) | criteria provided, single submitter | VCV000662470 |
| - GRCh37:
- Chr4:111542319
- GRCh38:
- Chr4:110621163
| PITX2 | | Axenfeld-Rieger syndrome type 1 | Pathogenic | criteria provided, single submitter | VCV000695068 |
| - GRCh37:
- Chr4:111542322
- GRCh38:
- Chr4:110621166
| PITX2 | R84W, R137W, R130W | Anterior segment dysgenesis, Anterior segment dysgenesis 4 | Pathogenic (Mar 31, 2020) | no assertion criteria provided | VCV000008089 |
| - GRCh37:
- Chr4:111542325
- GRCh38:
- Chr4:110621169
| PITX2 | V83L, V136L, V129L | Axenfeld-Rieger syndrome type 1 | Pathogenic (Aug 1, 2001) | no assertion criteria provided | VCV000008092 |
| - GRCh37:
- Chr4:111542348
- GRCh38:
- Chr4:110621192
| PITX2 | W128*, W121*, W75* | Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4 | Pathogenic (Jul 6, 2019) | criteria provided, single submitter | VCV000946640 |
| - GRCh37:
- Chr4:111542353-111542384
- GRCh38:
- Chr4:110621197-110621228
| PITX2 | Y109fs, Y116fs, Y63fs | Axenfeld-Rieger syndrome type 1 | Likely pathogenic | no assertion criteria provided | VCV001184588 |
| - GRCh37:
- Chr4:111542355
- GRCh38:
- Chr4:110621199
| PITX2 | A73T, A119T, A126T | Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1 | Uncertain significance (Aug 5, 2021) | criteria provided, single submitter | VCV001511354 |
| - GRCh37:
- Chr4:111542358
- GRCh38:
- Chr4:110621202
| PITX2 | I118fs, I125fs, I72fs | Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1 | Pathogenic (Jan 11, 2019) | criteria provided, single submitter | VCV000844916 |
| - GRCh37:
- Chr4:111542366
- GRCh38:
- Chr4:110621210
| PITX2 | R115H, R122H, R69H | not provided, Anterior segment dysgenesis 4 | Pathogenic (Jan 28, 2016) | criteria provided, single submitter | VCV000008090 |
| - GRCh37:
- Chr4:111542367-111542388
- GRCh38:
- Chr4:110621211-110621232
| PITX2 | R115fs, R108fs, R62fs | Axenfeld-Rieger syndrome type 1 | Pathogenic (Oct 12, 2015) | no assertion criteria provided | VCV000375436 |
| - GRCh37:
- Chr4:111542369-111542370
- GRCh38:
- Chr4:110621213-110621214
| PITX2 | T114fs, T121fs, T68fs | Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4 | Likely pathogenic (Jul 17, 2017) | criteria provided, single submitter | VCV000474010 |
| - GRCh37:
- Chr4:111542370
- GRCh38:
- Chr4:110621214
| PITX2 | T68P, T114P, T121P | Axenfeld-Rieger syndrome type 1 | Pathogenic (Dec 1, 2008) | no assertion criteria provided | VCV000008085 |
| - GRCh37:
- Chr4:111542381
- GRCh38:
- Chr4:110621225
| PITX2 | P64L, P110L, P117L | Axenfeld-Rieger syndrome type 1 | Pathogenic (Nov 18, 2014) | no assertion criteria provided | VCV000375437 |
| - GRCh37:
- Chr4:111542387
- GRCh38:
- Chr4:110621231
| PITX2 | R62H, R108H, R115H | Anterior segment dysgenesis, Ring dermoid of cornea | Pathogenic (Mar 31, 2020) | no assertion criteria provided | VCV000008094 |
| - GRCh37:
- Chr4:111542399
- GRCh38:
- Chr4:110621243
| PITX2 | F104S, F111S, F58S | Anterior segment dysgenesis 4 | Likely pathogenic (Nov 26, 2020) | criteria provided, single submitter | VCV000988075 |
| - GRCh37:
- Chr4:111542411
- GRCh38:
- Chr4:110621255
| PITX2 | L54Q, L107Q, L100Q | Axenfeld-Rieger syndrome type 1 | Pathogenic (Dec 1, 1996) | no assertion criteria provided | VCV000008083 |
| - GRCh37:
- Chr4:111542415
- GRCh38:
- Chr4:110621259
| PITX2 | E53*, E99*, E106* | Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1 | Pathogenic (Oct 9, 2021) | criteria provided, single submitter | VCV001398374 |
| - GRCh37:
- Chr4:111542424
- GRCh38:
- Chr4:110621268
| PITX2 | Q50*, Q103*, Q96* | Rieger anomaly | Pathogenic (Jan 2, 2018) | criteria provided, single submitter | VCV000492756 |
| - GRCh37:
- Chr4:111542442
- GRCh38:
- Chr4:110621286
| PITX2 | T44P, T90P, T97P | Inborn genetic diseases | Uncertain significance (Sep 28, 2018) | criteria provided, single submitter | VCV000985657 |
| - GRCh37:
- Chr4:111542445
- GRCh38:
- Chr4:110621289
| PITX2 | R43W, R89W, R96W | not provided, Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4
| Pathogenic (Jun 1, 2020) | criteria provided, single submitter | VCV001071052 |
| - GRCh37:
- Chr4:111542449
- GRCh38:
- Chr4:110621293
| PITX2 | | PITX2-Related Eye Abnormalities, Irido-corneo-trabecular dysgenesis, Cataract, Axenfeld-Rieger syndrome type 1, Ring dermoid of cornea, Anterior segment dysgenesis 4, Hypoplasia of the iris | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter | VCV000900537 |
| - GRCh37:
- Chr4:111542458
- GRCh38:
- Chr4:110621302
| PITX2 | | not provided | Uncertain significance (Mar 20, 2018) | criteria provided, single submitter | VCV000596328 |
| - GRCh37:
- Chr4:111542467
- GRCh38:
- Chr4:110621311
| PITX2 | K36fs, K89fs, K82fs | Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4 | Pathogenic (Feb 4, 2019) | criteria provided, single submitter | VCV000837823 |
| - GRCh37:
- Chr4:111542507
- GRCh38:
- Chr4:110621351
| PITX2 | Q22P, Q68P, Q75P | PITX2-Related Eye Abnormalities, Anterior segment dysgenesis 1, Irido-corneo-trabecular dysgenesis, Cataract, Ring dermoid of cornea, Axenfeld-Rieger syndrome type 1, Hypoplasia of the iris | Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations | VCV000347300 |
| - GRCh37:
- Chr4:111542516
- GRCh38:
- Chr4:110621360
| PITX2 | K19R, K72R, K65R | not provided | Uncertain significance (May 15, 2017) | criteria provided, single submitter | VCV000501979 |
| - GRCh37:
- Chr4:111542523
- GRCh38:
- Chr4:110621367
| PITX2 | K17*, K63*, K70* | Axenfeld-Rieger syndrome type 1 | Likely pathogenic (Jan 20, 2022) | criteria provided, single submitter | VCV001339732 |
| - GRCh37:
- Chr4:111542533
- GRCh38:
- Chr4:110621377
| PITX2 | | not provided | Likely benign (Apr 10, 2018) | criteria provided, single submitter | VCV000773996 |
| - GRCh37:
- Chr4:111542534
- GRCh38:
- Chr4:110621378
| PITX2 | | not provided, Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4, not specified | Benign/Likely benign (Nov 30, 2021) | criteria provided, multiple submitters, no conflicts | VCV000474012 |
| - GRCh37:
- Chr4:111542587
- GRCh38:
- Chr4:110621431
| PITX2 | | not provided | Benign (Nov 8, 2018) | criteria provided, single submitter | VCV001288511 |
| - GRCh37:
- Chr4:111542627
- GRCh38:
- Chr4:110621471
| PITX2 | | not provided | Benign (Mar 3, 2015) | criteria provided, single submitter | VCV001233854 |
| - GRCh37:
- Chr4:111542698
- GRCh38:
- Chr4:110621542
| PITX2 | | not provided | Likely benign (Nov 27, 2018) | criteria provided, single submitter | VCV001190280 |
| - GRCh37:
- Chr4:111543323
- GRCh38:
- Chr4:110622167
| PITX2 | | not provided | Benign (Jun 29, 2018) | criteria provided, single submitter | VCV001229303 |
| - GRCh37:
- Chr4:111543341
- GRCh38:
- Chr4:110622185
| PITX2 | | not provided | Benign (Jul 27, 2018) | criteria provided, single submitter | VCV001274006 |
| - GRCh37:
- Chr4:111543423
- GRCh38:
- Chr4:110622267
| PITX2 | P65L | Wolff-Parkinson-White pattern | Uncertain significance (Jul 14, 2017) | no assertion criteria provided | VCV000487594 |
| - GRCh37:
- Chr4:111543457
- GRCh38:
- Chr4:110622301
| PITX2 | | not provided | Uncertain significance (Apr 27, 2017) | criteria provided, single submitter | VCV000501061 |
| - GRCh37:
- Chr4:111543554
- GRCh38:
- Chr4:110622398
| PITX2 | | not specified | Benign (Jul 19, 2016) | criteria provided, single submitter | VCV000288932 |
| - GRCh37:
- Chr4:111543600
- GRCh38:
- Chr4:110622444
| PITX2 | G6V | not provided | Uncertain significance (Jun 1, 2015) | criteria provided, single submitter | VCV000193084 |