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Did you mean PITX2 as a gene symbol? Search ClinVar for PITX2

See PITX2 paired like homeodomain 2 in the Gene database

Search results

Items: 1 to 100 of 178

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058033
2.
GRCh37:
Chr4:111538585
GRCh38:
Chr4:110617429
PITX2PITX2-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 submitterVCV000901346
3.
GRCh37:
Chr4:111538594
GRCh38:
Chr4:110617438
PITX2PITX2-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 submitterVCV000901347
4.
GRCh37:
Chr4:111538670
GRCh38:
Chr4:110617514
PITX2PITX2-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 submitterVCV000347288
5.
GRCh37:
Chr4:111538709
GRCh38:
Chr4:110617553
PITX2PITX2-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 submitterVCV000347289
6.
GRCh37:
Chr4:111538759
GRCh38:
Chr4:110617603
PITX2PITX2-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 submitterVCV000347290
7.
GRCh37:
Chr4:111538810
GRCh38:
Chr4:110617654
PITX2PITX2-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 submitterVCV000347291
8.
GRCh37:
Chr4:111538827
GRCh38:
Chr4:110617671
PITX2PITX2-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 conflictsVCV000183253
9.
GRCh37:
Chr4:111538841
GRCh38:
Chr4:110617685
PITX2PITX2-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 submitterVCV000902850
10.
GRCh37:
Chr4:111538903-111538905
GRCh38:
Chr4:110617747-110617749
PITX2Axenfeld-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 submitterVCV000347292
11.
GRCh37:
Chr4:111538911
GRCh38:
Chr4:110617755
PITX2PITX2-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 submitterVCV000347293
12.
GRCh37:
Chr4:111538941
GRCh38:
Chr4:110617785
PITX2PITX2-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 interpretationsVCV000347294
13.
GRCh37:
Chr4:111539017
GRCh38:
Chr4:110617861
PITX2PITX2-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 submitterVCV000347295
14.
GRCh37:
Chr4:111539105
GRCh38:
Chr4:110617949
PITX2PITX2-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 submitterVCV000347296
15.
GRCh37:
Chr4:111539108
GRCh38:
Chr4:110617952
PITX2PITX2-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 submitterVCV000900360
16.
GRCh37:
Chr4:111539162
GRCh38:
Chr4:110618006
PITX2PITX2-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 submitterVCV000347297
17.
GRCh37:
Chr4:111539174
GRCh38:
Chr4:110618018
PITX2PITX2-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 submitterVCV000901514
18.
GRCh37:
Chr4:111539205-111543628
GRCh38:
Chr4:110618049-110622472
PITX2Axenfeld-Rieger syndrome type 1Pathogenic
(Jul 31, 2015)
no assertion criteria providedVCV000375443
19.
GRCh37:
Chr4:111539315
GRCh38:
Chr4:110618159
PITX2S314N, S307N, S261NAxenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4Uncertain significance
(Apr 16, 2019)
criteria provided, single submitterVCV000849729
20.
GRCh37:
Chr4:111539337-111542501
GRCh38:
Chr4:110618181-110621345
PITX2Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1Likely pathogenic
(Mar 25, 2017)
criteria provided, single submitterVCV000474009
21.
GRCh37:
Chr4:111539340
GRCh38:
Chr4:110618184
PITX2V253M, V299M, V306MAxenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4Uncertain significance
(Sep 12, 2018)
criteria provided, single submitterVCV000648326
22.
GRCh37:
Chr4:111539354
GRCh38:
Chr4:110618198
PITX2F248C, F294C, F301Cnot providedUncertain significance
(Sep 16, 2018)
no assertion criteria providedVCV000591909
23.
GRCh37:
Chr4:111539394
GRCh38:
Chr4:110618238
PITX2PITX2-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 interpretationsVCV000347298
24.
GRCh37:
Chr4:111539437
GRCh38:
Chr4:110618281
PITX2Axenfeld-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 conflictsVCV000167472
25.
GRCh37:
Chr4:111539440
GRCh38:
Chr4:110618284
PITX2Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4Likely benign
(Sep 23, 2021)
criteria provided, single submitterVCV001660721
26.
GRCh37:
Chr4:111539442-111539443
GRCh38:
Chr4:110618286-110618287
PITX2A265fs, A272fs, A219fsnot providedPathogenic
(Oct 1, 2019)
criteria provided, single submitterVCV000871112
27.
GRCh37:
Chr4:111539444
GRCh38:
Chr4:110618288
PITX2Y218F, Y264F, Y271Fnot providedUncertain significance
(Aug 20, 2013)
criteria provided, single submitterVCV000096521
28.
GRCh37:
Chr4:111539449
GRCh38:
Chr4:110618293
PITX2C216*, C262*, C269*Axenfeld-Rieger syndrome type 1Pathogenicno assertion criteria providedVCV000375442
29.
GRCh37:
Chr4:111539461
GRCh38:
Chr4:110618305
PITX2not providedLikely benign
(May 11, 2018)
criteria provided, single submitterVCV000772691
30.
GRCh37:
Chr4:111539471-111539472
GRCh38:
Chr4:110618315-110618316
PITX2S255fs, S262fs, S209fsAxenfeld-Rieger syndrome type 1Pathogenic
(Nov 24, 2009)
no assertion criteria providedVCV000375441
31.
GRCh37:
Chr4:111539521-111539542
GRCh38:
Chr4:110618365-110618386
PITX2T232fs, T239fs, T186fsAxenfeld-Rieger syndrome type 1Pathogenic
(May 11, 2015)
no assertion criteria providedVCV000375440
32.
GRCh37:
Chr4:111539539-111539540
GRCh38:
Chr4:110618383-110618384
PITX2Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1Pathogenic
(Nov 4, 2021)
criteria provided, single submitterVCV001455159
33.
GRCh37:
Chr4:111539561
GRCh38:
Chr4:110618405
PITX2S179N, S232N, S225NPITX2-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 submitterVCV000900415
34.
GRCh37:
Chr4:111539617
GRCh38:
Chr4:110618461
PITX2Axenfeld-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 interpretationsVCV000283383
35.
GRCh37:
Chr4:111539637
GRCh38:
Chr4:110618481
PITX2M154V, M207V, M200VIrido-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 interpretationsVCV000559593
36.
GRCh37:
Chr4:111539638
GRCh38:
Chr4:110618482
PITX2Irido-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 conflictsVCV000262718
37.
GRCh37:
Chr4:111539664
GRCh38:
Chr4:110618508
PITX2T145S, T191S, T198SAxenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4Likely benign
(Aug 31, 2021)
criteria provided, single submitterVCV001659615
38.
GRCh37:
Chr4:111539676
GRCh38:
Chr4:110618520
PITX2A141T, A187T, A194TMalignant tumor of prostateUncertain significanceno assertion criteria providedVCV000161569
39.
GRCh37:
Chr4:111539694
GRCh38:
Chr4:110618538
PITX2A135T, A181T, A188TAxenfeld-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 conflictsVCV000197884
40.
GRCh37:
Chr4:111539698
GRCh38:
Chr4:110618542
PITX2W133*, W179*, W186*Axenfeld-Rieger syndrome type 1Pathogenic
(Dec 1, 1996)
no assertion criteria providedVCV000008088
41.
GRCh37:
Chr4:111539722
GRCh38:
Chr4:110618566
PITX2Y171*, Y125*, Y178*Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4Pathogenic
(Jul 24, 2018)
criteria provided, single submitterVCV000639456
42.
GRCh37:
Chr4:111539733-111539734
GRCh38:
Chr4:110618577-110618578
PITX2Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4Pathogenic
(Jul 22, 2019)
criteria provided, single submitterVCV000937285
43.
GRCh37:
Chr4:111539734
GRCh38:
Chr4:110618578
PITX2Y167*, Y174*, Y121*Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1Pathogenic
(Aug 12, 2021)
criteria provided, single submitterVCV001449912
44.
GRCh37:
Chr4:111539755-111539756
GRCh38:
Chr4:110618599-110618600
PITX2N115fs, N168fs, N161fsAnterior segment dysgenesisPathogenic
(Mar 31, 2020)
no assertion criteria providedVCV000932289
45.
GRCh37:
Chr4:111539761
GRCh38:
Chr4:110618605
PITX2not providedLikely benign
(Nov 20, 2017)
criteria provided, single submitterVCV000725771
46.
GRCh37:
Chr4:111539807-111539808
GRCh38:
Chr4:110618651-110618652
PITX2R97fs, R143fs, R150fsAnterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1Pathogenic
(Sep 18, 2021)
criteria provided, single submitterVCV001458040
47.
GRCh37:
Chr4:111539823
GRCh38:
Chr4:110618667
PITX2A92P, A138P, A145PAxenfeld-Rieger syndrome type 1Uncertain significance
(Nov 7, 2014)
no assertion criteria providedVCV000375439
48.
GRCh37:
Chr4:111539825
GRCh38:
Chr4:110618669
PITX2R91Q, R144Q, R137QAxenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4, not provided
Uncertain significance
(Oct 2, 2021)
criteria provided, multiple submitters, no conflictsVCV000197883
49.
GRCh37:
Chr4:111539825
GRCh38:
Chr4:110618669
PITX2R91P, R144P, R137PInborn genetic diseases, Axenfeld-Rieger syndrome type 1Likely pathogenic
(Dec 13, 2018)
criteria provided, single submitterVCV000008087
50.
GRCh37:
Chr4:111539826
GRCh38:
Chr4:110618670
PITX2R137W, R144W, R91WAxenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4Likely pathogenic
(May 6, 2020)
criteria provided, single submitterVCV001068355
51.
GRCh37:
Chr4:111539826
GRCh38:
Chr4:110618670
PITX2R91G, R137G, R144GAxenfeld-Rieger syndrome type 1Uncertain significance
(Nov 21, 2014)
no assertion criteria providedVCV000375438
52.
GRCh37:
Chr4:111539835
GRCh38:
Chr4:110618679
PITX2K88E, K141E, K134EAxenfeld-Rieger syndrome type 1Pathogenic
(Mar 1, 2003)
no assertion criteria providedVCV000030197
53.
GRCh37:
Chr4:111539840
GRCh38:
Chr4:110618684
PITX2W139S, W86S, W132SAxenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4Pathogenic
(Oct 1, 2018)
criteria provided, single submitterVCV000647394
54.
GRCh37:
Chr4:111539846
GRCh38:
Chr4:110618690
PITX2Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4Likely pathogenic
(Oct 27, 2016)
criteria provided, single submitterVCV000474011
55.
GRCh37:
Chr4:111539846
GRCh38:
Chr4:110618690
PITX2ANTERIOR SEGMENT DYSGENESIS 4, PETERS ANOMALY SUBTYPEPathogenic
(Feb 1, 1999)
no assertion criteria providedVCV000008091
56.
GRCh37:
Chr4:111539851
GRCh38:
Chr4:110618695
PITX2PITX2-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 submitterVCV000899414
57.
GRCh37:
Chr4:111539855
GRCh38:
Chr4:110618699
PITX2Axenfeld-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 submitterVCV000347299
58.
GRCh37:
Chr4:111539855
GRCh38:
Chr4:110618699
PITX2not provided, Axenfeld-Rieger syndrome type 1Pathogenic
(Nov 22, 2019)
criteria provided, single submitterVCV000008086
59.
GRCh37:
Chr4:111539946
GRCh38:
Chr4:110618790
PITX2not providedLikely benign
(Jul 31, 2018)
criteria provided, single submitterVCV001218185
60.
GRCh37:
Chr4:111540115
GRCh38:
Chr4:110618959
PITX2not providedLikely benign
(Aug 18, 2019)
criteria provided, single submitterVCV001200825
61.
GRCh37:
Chr4:111542124
GRCh38:
Chr4:110620968
PITX2not providedBenign
(Jun 26, 2018)
criteria provided, single submitterVCV001296541
62.
GRCh37:
Chr4:111542154
GRCh38:
Chr4:110620998
PITX2not providedBenign
(Jul 27, 2018)
criteria provided, single submitterVCV001238490
63.
GRCh37:
Chr4:111542315
GRCh38:
Chr4:110621159
PITX2Axenfeld-Rieger syndrome type 1Pathogenic
(Dec 1, 1996)
no assertion criteria providedVCV000008084
64.
GRCh37:
Chr4:111542318
GRCh38:
Chr4:110621162
PITX2Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4Pathogenic
(Sep 12, 2018)
criteria provided, single submitterVCV000662470
65.
GRCh37:
Chr4:111542319
GRCh38:
Chr4:110621163
PITX2Axenfeld-Rieger syndrome type 1Pathogeniccriteria provided, single submitterVCV000695068
66.
GRCh37:
Chr4:111542322
GRCh38:
Chr4:110621166
PITX2R84W, R137W, R130WAnterior segment dysgenesis, Anterior segment dysgenesis 4Pathogenic
(Mar 31, 2020)
no assertion criteria providedVCV000008089
67.
GRCh37:
Chr4:111542325
GRCh38:
Chr4:110621169
PITX2V83L, V136L, V129LAxenfeld-Rieger syndrome type 1Pathogenic
(Aug 1, 2001)
no assertion criteria providedVCV000008092
68.
GRCh37:
Chr4:111542348
GRCh38:
Chr4:110621192
PITX2W128*, W121*, W75*Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4Pathogenic
(Jul 6, 2019)
criteria provided, single submitterVCV000946640
69.
GRCh37:
Chr4:111542353-111542384
GRCh38:
Chr4:110621197-110621228
PITX2Y109fs, Y116fs, Y63fsAxenfeld-Rieger syndrome type 1Likely pathogenicno assertion criteria providedVCV001184588
70.
GRCh37:
Chr4:111542355
GRCh38:
Chr4:110621199
PITX2A73T, A119T, A126TAnterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1Uncertain significance
(Aug 5, 2021)
criteria provided, single submitterVCV001511354
71.
GRCh37:
Chr4:111542358
GRCh38:
Chr4:110621202
PITX2I118fs, I125fs, I72fsAnterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1Pathogenic
(Jan 11, 2019)
criteria provided, single submitterVCV000844916
72.
GRCh37:
Chr4:111542366
GRCh38:
Chr4:110621210
PITX2R115H, R122H, R69Hnot provided, Anterior segment dysgenesis 4Pathogenic
(Jan 28, 2016)
criteria provided, single submitterVCV000008090
73.
GRCh37:
Chr4:111542367-111542388
GRCh38:
Chr4:110621211-110621232
PITX2R115fs, R108fs, R62fsAxenfeld-Rieger syndrome type 1Pathogenic
(Oct 12, 2015)
no assertion criteria providedVCV000375436
74.
GRCh37:
Chr4:111542369-111542370
GRCh38:
Chr4:110621213-110621214
PITX2T114fs, T121fs, T68fsAxenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4Likely pathogenic
(Jul 17, 2017)
criteria provided, single submitterVCV000474010
75.
GRCh37:
Chr4:111542370
GRCh38:
Chr4:110621214
PITX2T68P, T114P, T121PAxenfeld-Rieger syndrome type 1Pathogenic
(Dec 1, 2008)
no assertion criteria providedVCV000008085
76.
GRCh37:
Chr4:111542381
GRCh38:
Chr4:110621225
PITX2P64L, P110L, P117LAxenfeld-Rieger syndrome type 1Pathogenic
(Nov 18, 2014)
no assertion criteria providedVCV000375437
77.
GRCh37:
Chr4:111542387
GRCh38:
Chr4:110621231
PITX2R62H, R108H, R115HAnterior segment dysgenesis, Ring dermoid of corneaPathogenic
(Mar 31, 2020)
no assertion criteria providedVCV000008094
78.
GRCh37:
Chr4:111542399
GRCh38:
Chr4:110621243
PITX2F104S, F111S, F58SAnterior segment dysgenesis 4Likely pathogenic
(Nov 26, 2020)
criteria provided, single submitterVCV000988075
79.
GRCh37:
Chr4:111542411
GRCh38:
Chr4:110621255
PITX2L54Q, L107Q, L100QAxenfeld-Rieger syndrome type 1Pathogenic
(Dec 1, 1996)
no assertion criteria providedVCV000008083
80.
GRCh37:
Chr4:111542415
GRCh38:
Chr4:110621259
PITX2E53*, E99*, E106*Anterior segment dysgenesis 4, Axenfeld-Rieger syndrome type 1Pathogenic
(Oct 9, 2021)
criteria provided, single submitterVCV001398374
81.
GRCh37:
Chr4:111542424
GRCh38:
Chr4:110621268
PITX2Q50*, Q103*, Q96*Rieger anomalyPathogenic
(Jan 2, 2018)
criteria provided, single submitterVCV000492756
82.
GRCh37:
Chr4:111542442
GRCh38:
Chr4:110621286
PITX2T44P, T90P, T97PInborn genetic diseasesUncertain significance
(Sep 28, 2018)
criteria provided, single submitterVCV000985657
83.
GRCh37:
Chr4:111542445
GRCh38:
Chr4:110621289
PITX2R43W, R89W, R96Wnot provided, Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4
Pathogenic
(Jun 1, 2020)
criteria provided, single submitterVCV001071052
84.
GRCh37:
Chr4:111542449
GRCh38:
Chr4:110621293
PITX2PITX2-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 submitterVCV000900537
85.
GRCh37:
Chr4:111542458
GRCh38:
Chr4:110621302
PITX2not providedUncertain significance
(Mar 20, 2018)
criteria provided, single submitterVCV000596328
86.
GRCh37:
Chr4:111542467
GRCh38:
Chr4:110621311
PITX2K36fs, K89fs, K82fsAxenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4Pathogenic
(Feb 4, 2019)
criteria provided, single submitterVCV000837823
87.
GRCh37:
Chr4:111542507
GRCh38:
Chr4:110621351
PITX2Q22P, Q68P, Q75PPITX2-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 interpretationsVCV000347300
88.
GRCh37:
Chr4:111542516
GRCh38:
Chr4:110621360
PITX2K19R, K72R, K65Rnot providedUncertain significance
(May 15, 2017)
criteria provided, single submitterVCV000501979
89.
GRCh37:
Chr4:111542523
GRCh38:
Chr4:110621367
PITX2K17*, K63*, K70*Axenfeld-Rieger syndrome type 1Likely pathogenic
(Jan 20, 2022)
criteria provided, single submitterVCV001339732
90.
GRCh37:
Chr4:111542533
GRCh38:
Chr4:110621377
PITX2not providedLikely benign
(Apr 10, 2018)
criteria provided, single submitterVCV000773996
91.
GRCh37:
Chr4:111542534
GRCh38:
Chr4:110621378
PITX2not provided, Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4,
not specified
Benign/Likely benign
(Nov 30, 2021)
criteria provided, multiple submitters, no conflictsVCV000474012
92.
GRCh37:
Chr4:111542587
GRCh38:
Chr4:110621431
PITX2not providedBenign
(Nov 8, 2018)
criteria provided, single submitterVCV001288511
93.
GRCh37:
Chr4:111542627
GRCh38:
Chr4:110621471
PITX2not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001233854
94.
GRCh37:
Chr4:111542698
GRCh38:
Chr4:110621542
PITX2not providedLikely benign
(Nov 27, 2018)
criteria provided, single submitterVCV001190280
95.
GRCh37:
Chr4:111543323
GRCh38:
Chr4:110622167
PITX2not providedBenign
(Jun 29, 2018)
criteria provided, single submitterVCV001229303
96.
GRCh37:
Chr4:111543341
GRCh38:
Chr4:110622185
PITX2not providedBenign
(Jul 27, 2018)
criteria provided, single submitterVCV001274006
97.
GRCh37:
Chr4:111543423
GRCh38:
Chr4:110622267
PITX2P65LWolff-Parkinson-White patternUncertain significance
(Jul 14, 2017)
no assertion criteria providedVCV000487594
98.
GRCh37:
Chr4:111543457
GRCh38:
Chr4:110622301
PITX2not providedUncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000501061
99.
GRCh37:
Chr4:111543554
GRCh38:
Chr4:110622398
PITX2not specifiedBenign
(Jul 19, 2016)
criteria provided, single submitterVCV000288932
100.
GRCh37:
Chr4:111543600
GRCh38:
Chr4:110622444
PITX2G6Vnot providedUncertain significance
(Jun 1, 2015)
criteria provided, single submitterVCV000193084
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