Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001368894.2(PAX6):c.349C>T (p.Arg117Ter)	SNV Germline	Chr11:31801611	Pathogenic	Aniridia 1 Condition: not provided Irido-corneo-trabecular dysgenesis Aniridia 1	Criteria Provided Multiple Submitters No Conflicts	CA252789	rs_121907914	5 SubmittersRCV000003629 RCV000414332 RCV001851620
NM_001368894.2(PAX6):c.649C>T (p.Arg217Ter)	SNV Germline	Chr11:31794705	Pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis Aniridia 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA220596	rs_121907916	7 SubmittersRCV000003631 RCV000543409 RCV000790810
NM_001368894.2(PAX6):c.760C>T (p.Arg254Ter)	SNV Germline	Chr11:31794079	Pathogenic	Aniridia 1 Condition: not provided Irido-corneo-trabecular dysgenesis Aniridia 1	Criteria Provided Multiple Submitters No Conflicts	CA252793	rs_121907917	7 SubmittersRCV000003632 RCV000312176 RCV000536976
NM_001368894.2(PAX6):c.1075-2A>G	SNV Germline	Chr11:31790862	Pathogenic	Aniridia 1 Condition: not provided Irido-corneo-trabecular dysgenesis Aniridia 1	Criteria Provided Multiple Submitters No Conflicts	CA252797	rs_794726661	3 SubmittersRCV000003633 RCV000414592 RCV001238030
NM_001368894.2(PAX6):c.424C>T (p.Arg142Cys)	SNV Germline	Chr11:31800832	Pathogenic	Foveal hypoplasia 1 Aniridia 1 Irido-corneo-trabecular dysgenesis Aniridia 1	Criteria Provided Single Submitter	CA116221	rs_121907918	3 SubmittersRCV000003635 RCV000984410 RCV001851621
NM_001368894.2(PAX6):c.419T>A (p.Val140Asp)	SNV Germline	Chr11:31800837	Likely pathogenic	Aniridia, atypical Irido-corneo-trabecular dysgenesis Aniridia 1	Criteria Provided Single Submitter	CA116224	rs_121907919	2 SubmittersRCV000003636 RCV002512714
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu)	SNV Germline	Chr11:31789935	Conflicting classifications of pathogenicity	Aniridia 1 Condition: not provided 8 conditions Irido-corneo-trabecular dysgenesis Aniridia 1 Visual impairment Nystagmus Hypertelorism	Criteria Provided Conflicting Classifications	CA252798	rs_121907922	10 SubmittersRCV000003642 RCV000327291 RCV000762838 RCV000805010 RCV000785745
NM_001368894.2(PAX6):c.655C>T (p.Gln219Ter)	SNV Germline	Chr11:31794699	Pathogenic	Isolated optic nerve hypoplasia Condition: not provided Irido-corneo-trabecular dysgenesis Aniridia 1	Criteria Provided Multiple Submitters No Conflicts	CA116237	rs_121907924	3 SubmittersRCV000003644 RCV000481122 RCV001246978
NM_001368894.2(PAX6):c.-129+2T>A	SNV Germline	Chr11:31810826	Pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis Aniridia 1	Criteria Provided Single Submitter	CA10575482	rs_878852979	3 SubmittersRCV000003651 RCV003764525
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter)	SNV Germline	Chr2:38075218	Pathogenic/Likely pathogenic	Irido-corneo-trabecular dysgenesis Glaucoma 3A Anterior segment dysgenesis 6 CYP1B1-related disorder Congenital glaucoma Condition: not provided Anterior segment dysgenesis 6 Glaucoma 3, primary infantile, B Glaucoma 3A Anterior segment dysgenesis	Criteria Provided Multiple Submitters No Conflicts	CA119014	rs_72549387	12 SubmittersRCV000008176 RCV000169657 RCV000416316 RCV000331073 RCV000692947 RCV000489919 RCV000763084 RCV001200036
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)	SNV Germline	Chr2:38071251	Conflicting classifications of pathogenicity	Glaucoma, early-onset, digenic Glaucoma 3A Congenital ocular coloboma Condition: not provided Glaucoma 3A Irido-corneo-trabecular dysgenesis CYP1B1-related disorder Congenital glaucoma not specified Myopathy, centronuclear, 5 Anterior segment dysgenesis 6	Criteria Provided Conflicting Classifications	CA119016	rs_79204362	22 SubmittersRCV000008178 RCV000023146 RCV000059335 RCV000489962 RCV000709869 RCV000778148 RCV001083921 RCV000844695 RCV001258308 RCV003466835
NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn)	SNV Germline	Chr2:38075148	Conflicting classifications of pathogenicity	Primary open angle glaucoma not specified Congenital ocular coloboma Irido-corneo-trabecular dysgenesis Congenital glaucoma Glaucoma 3A Condition: not provided Anterior segment dysgenesis	Criteria Provided Conflicting Classifications	CA145182	rs_9282671	8 SubmittersRCV000008185 RCV000078126 RCV000059337 RCV001139670 RCV001087298 RCV001139671 RCV000766838 RCV002470703
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln)	SNV Germline	Chr9:14842561	Conflicting classifications of pathogenicity	Trigonocephaly 2 Condition: not provided Irido-corneo-trabecular dysgenesis Rieger anomaly Oculotrichoanal syndrome	Criteria Provided Conflicting Classifications	CA129451	rs_184394424	9 SubmittersRCV000023746 RCV000059636 RCV000207399 RCV000988143
NM_001368894.2(PAX6):c.112C>T (p.Arg38Trp)	SNV Germline	Chr11:31802733	Pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis Aniridia 1 Coloboma, ocular, autosomal dominant	Criteria Provided Single Submitter	CA261246	rs_397514640	2 SubmittersRCV000033168 RCV003764654 RCV003883464
NM_001368894.2(PAX6):c.194G>T (p.Gly65Val)	SNV Germline	Chr11:31801766	Pathogenic/Likely pathogenic	Irido-corneo-trabecular dysgenesis Anterior segment dysgenesis	No Assertion Criteria Provided	CA145185	rs_587778874	1 SubmittersRCV000059340 RCV001200041
NM_001368894.2(PAX6):c.399+1G>A	SNV Germline	Chr11:31801560	Pathogenic	Condition: not provided Aniridia 1 Irido-corneo-trabecular dysgenesis Aniridia 1 PAX6-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA220594	rs_398123295	8 SubmittersRCV000078543 RCV000707094 RCV000984403 RCV004537306
NM_000264.5(PTCH1):c.3947A>G (p.Tyr1316Cys)	SNV Germline	Chr9:95447309	Conflicting classifications of pathogenicity	Rieger anomaly Irido-corneo-trabecular dysgenesis Hereditary cancer-predisposing syndrome Holoprosencephaly 7 Condition: not provided Gorlin syndrome PTCH1-related disorder	Criteria Provided Conflicting Classifications	CA332023	rs_147067171	7 SubmittersRCV000207364 RCV000492441 RCV001166719 RCV000588636 RCV001084106 RCV004551169
NM_001368894.2(PAX6):c.1032G>A (p.Pro344=)	SNV Germline	Chr11:31793480	Conflicting classifications of pathogenicity	not specified Condition: not provided Aniridia 1 Irido-corneo-trabecular dysgenesis PAX6-related disorder	Criteria Provided Conflicting Classifications	CA234479	rs_146261351	4 SubmittersRCV000153640 RCV000723685 RCV001518660 RCV004532730
NM_001291303.3(FAT4):c.131A>C (p.Glu44Ala)	SNV Germline	Chr4:125316542	Conflicting classifications of pathogenicity	Anophthalmia-microphthalmia syndrome Irido-corneo-trabecular dysgenesis Condition: not provided	Criteria Provided Conflicting Classifications	CA071916	rs_200221425	4 SubmittersRCV000207378 RCV001497990
NM_005245.4(FAT1):c.4336G>A (p.Val1446Ile)	SNV Germline	Chr4:186628751	Conflicting classifications of pathogenicity	Irido-corneo-trabecular dysgenesis Anophthalmia-microphthalmia syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA072793	rs_200828005	2 SubmittersRCV000207426 RCV001853287
NM_000264.5(PTCH1):c.2695A>G (p.Ile899Val)	SNV Germline	Chr9:95461864	Conflicting classifications of pathogenicity	Irido-corneo-trabecular dysgenesis Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA072669	rs_765371196	4 SubmittersRCV000207421 RCV000791706 RCV002433914 RCV003477709
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 SubmittersRCV000490499 RCV001137457 RCV002265688 RCV003758727
NM_001368894.2(PAX6):c.808-12C>T	SNV Germline/somatic	Chr11:31793814	Conflicting classifications of pathogenicity	not specified Aniridia 1 Autosomal dominant keratitis Anophthalmia-microphthalmia syndrome Foveal hypoplasia 1 11p partial monosomy syndrome carboxymethyl-dextran-A2-gadolinium-DOTA Aniridia, Cerebellar Ataxia, And Intellectual Disability Condition: not provided Aniridia 1 Irido-corneo-trabecular dysgenesis Abnormality of refraction	Criteria Provided Conflicting Classifications	CA5933790	rs_667773	11 SubmittersRCV000248742 RCV000284718 RCV000269341 RCV000329038 RCV000339789 RCV000380248 RCV000383559 RCV000382578 RCV001683027 RCV001512870 RCV002226702
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter)	SNV Germline	Chr11:31793787	Pathogenic	Condition: not provided 8 conditions Aniridia 1 Aniridia 1 Irido-corneo-trabecular dysgenesis PAX6-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10603114	rs_886041222	8 SubmittersRCV000272207 RCV000762839 RCV000496007 RCV000547174 RCV004545764
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 Ring dermoid of cornea Hypoplasia of the iris Axenfeld-Rieger syndrome type 1 Anterior segment dysgenesis 1 Cataract Axenfeld-Rieger syndrome type 1 Anterior segment dysgenesis 4 PITX2-related disorder	Criteria Provided Conflicting Classifications	CA3045450	rs_141176394	4 SubmittersRCV000270853 RCV000291700 RCV000295266 RCV000352445 RCV000348827 RCV000383692 RCV000399939 RCV000391418 RCV001088993 RCV003930082
NM_001368894.2(PAX6):c.52G>C (p.Gly18Arg)	SNV Germline	Chr11:31802793	Pathogenic/Likely pathogenic	Condition: not provided Aniridia 1 Irido-corneo-trabecular dysgenesis PAX6-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10606574	rs_886044289	3 SubmittersRCV000317485 RCV000635404 RCV003401272
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=)	SNV Germline	Chr11:31790756	Conflicting classifications of pathogenicity	Condition: not provided Aniridia, Cerebellar Ataxia, And Intellectual Disability carboxymethyl-dextran-A2-gadolinium-DOTA 11p partial monosomy syndrome Autosomal dominant keratitis Foveal hypoplasia 1 Anophthalmia-microphthalmia syndrome Aniridia 1 Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Conflicting Classifications	CA5933672	rs_143477661	6 SubmittersRCV000297452 RCV000301599 RCV000291396 RCV000342402 RCV000346346 RCV000395656 RCV000381110 RCV000400886 RCV001086844
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 SubmittersRCV000343927 RCV000402292 RCV003593950
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 SubmittersRCV000281312 RCV000296524 RCV000302839 RCV000335094 RCV000338713 RCV000373500 RCV000393039
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 Condition: not provided Axenfeld-Rieger syndrome type 1 Anterior segment dysgenesis 4	Criteria Provided Conflicting Classifications	CA3045413	rs_139401187	3 SubmittersRCV000262048 RCV000296840 RCV000312236 RCV000354089 RCV000369215 RCV000403804 RCV000408426 RCV003437101 RCV002057905
NM_000325.6(PITX2):c.224A>C (p.Gln75Pro)	SNV Germline	Chr4:110621351	Conflicting classifications of pathogenicity	Axenfeld-Rieger syndrome type 1 Irido-corneo-trabecular dysgenesis Hypoplasia of the iris Ring dermoid of cornea Anterior segment dysgenesis 1 Cataract PITX2-Related Eye Abnormalities Anterior segment dysgenesis 4 Axenfeld-Rieger syndrome type 1	Criteria Provided Conflicting Classifications	CA3045542	rs_201628949	2 SubmittersRCV000264197 RCV000300585 RCV000304723 RCV000344354 RCV000355389 RCV000359478 RCV000393111 RCV003766004
NM_001368894.2(PAX6):c.753G>A (p.Val251=)	SNV Germline	Chr11:31794086	Conflicting classifications of pathogenicity	Aniridia, Cerebellar Ataxia, And Intellectual Disability Autosomal dominant keratitis Anophthalmia-microphthalmia syndrome Foveal hypoplasia 1 Aniridia 1 carboxymethyl-dextran-A2-gadolinium-DOTA 11p partial monosomy syndrome Condition: not provided Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Conflicting Classifications	CA5933808	rs_145329506	7 SubmittersRCV000285944 RCV000301339 RCV000310966 RCV000336368 RCV000337620 RCV000394809 RCV000398566 RCV001566375 RCV001514487
NM_001368894.2(PAX6):c.873G>A (p.Gln291=)	SNV Germline	Chr11:31793737	Conflicting classifications of pathogenicity	Aniridia, Cerebellar Ataxia, And Intellectual Disability carboxymethyl-dextran-A2-gadolinium-DOTA 11p partial monosomy syndrome Foveal hypoplasia 1 Anophthalmia-microphthalmia syndrome Aniridia 1 Autosomal dominant keratitis Aniridia 1 Irido-corneo-trabecular dysgenesis Condition: not provided	Criteria Provided Conflicting Classifications	CA5933788	rs_149053004	6 SubmittersRCV000263284 RCV000273738 RCV000299533 RCV000298558 RCV000353328 RCV000333506 RCV000368216 RCV000865074 RCV001683229
NM_001368894.2(PAX6):c.991C>T (p.Arg331Ter)	SNV Germline	Chr11:31793521	Pathogenic	Condition: not provided Aniridia 1 Irido-corneo-trabecular dysgenesis Aniridia 1	Criteria Provided Multiple Submitters No Conflicts	CA16042781	rs_1057517785	4 SubmittersRCV000413962 RCV000557326 RCV000984450
NM_001368894.2(PAX6):c.528G>A (p.Trp176Ter)	SNV Germline	Chr11:31800728	Pathogenic/Likely pathogenic	Condition: not provided Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Multiple Submitters No Conflicts	CA16605908	rs_1057520755	2 SubmittersRCV000419144 RCV001036942
NM_001368894.2(PAX6):c.959-3C>G	SNV Germline	Chr11:31793556	Pathogenic/Likely pathogenic	Condition: not provided Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Multiple Submitters No Conflicts	CA16606306	rs_1057523821	2 SubmittersRCV000423209 RCV001865384
NM_001368894.2(PAX6):c.836G>A (p.Trp279Ter)	SNV Germline	Chr11:31793774	Pathogenic	Aniridia 1 Condition: not provided Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Multiple Submitters No Conflicts	CA379956524	rs_1131692314	5 SubmittersRCV000495982 RCV000627252 RCV003766788
NM_001368894.2(PAX6):c.703C>T (p.Gln235Ter)	SNV Germline	Chr11:31794651	Pathogenic	Aniridia 1 Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter	CA379956848	rs_1131692309	3 SubmittersRCV000496039 RCV002527124
NM_001368894.2(PAX6):c.553C>T (p.Gln185Ter)	SNV Germline	Chr11:31800703	Pathogenic	Aniridia 1 Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter	CA379957911	rs_1131692308	3 SubmittersRCV000496078 RCV000635403
NM_001368894.2(PAX6):c.445C>T (p.Gln149Ter)	SNV Germline	Chr11:31800811	Pathogenic	Aniridia 1 Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Multiple Submitters No Conflicts	CA379958293	rs_1131692304	3 SubmittersRCV000496038 RCV000699145
NM_001368894.2(PAX6):c.307C>T (p.Gln103Ter)	SNV Germline	Chr11:31801653	Pathogenic	Aniridia 1 Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter	CA379958636	rs_1131692297	2 SubmittersRCV000495990 RCV001865557
NM_001368894.2(PAX6):c.184-5T>G	SNV Germline	Chr11:31801781	Pathogenic	Aniridia 1 Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter	CA645372131	rs_1131692292	2 SubmittersRCV000496014 RCV003766787
NM_001368894.2(PAX6):c.1A>G (p.Met1Val)	SNV Germline	Chr11:31806411	Pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter	CA379960125	rs_1131692284	2 SubmittersRCV000496024 RCV003488635
NM_001368894.2(PAX6):c.1A>C (p.Met1Leu)	SNV Germline	Chr11:31806411	Pathogenic	Aniridia 1 Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter	CA379960126	rs_1131692284	2 SubmittersRCV000496060 RCV000635401
NM_001368894.2(PAX6):c.120C>A (p.Cys40Ter)	SNV Germline	Chr11:31802725	Pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter	CA379959502	rs_1329112134	1 SubmittersRCV000527030
NM_001368894.2(PAX6):c.399+4A>T	SNV Germline	Chr11:31801557	Pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter	CA658658046	rs_1554985282	1 SubmittersRCV000541017
NM_001368894.2(PAX6):c.3G>A (p.Met1Ile)	SNV Germline	Chr11:31806409	Pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter	CA379960119	rs_1554986754	1 SubmittersRCV000544207
NM_001368894.2(PAX6):c.407C>A (p.Ser136Ter)	SNV Germline	Chr11:31800849	Pathogenic/Likely pathogenic	Condition: not provided Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Multiple Submitters No Conflicts	CA379958404	rs_1554985100	2 SubmittersRCV000579376 RCV003767251
NM_001368894.2(PAX6):c.862C>T (p.Gln288Ter)	SNV Germline	Chr11:31793748	Pathogenic	Aniridia 1 Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Multiple Submitters No Conflicts	CA379956461	rs_1554983229	2 SubmittersRCV000584784 RCV001853950
NM_001368894.2(PAX6):c.580C>T (p.Gln194Ter)	SNV Germline	Chr11:31794774	Pathogenic	Aniridia 1 Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Multiple Submitters No Conflicts	CA379957173	rs_1554983571	2 SubmittersRCV000584776 RCV002530828
NM_001368894.2(PAX6):c.367G>T (p.Glu123Ter)	SNV Germline	Chr11:31801593	Pathogenic	Aniridia 1 Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Multiple Submitters No Conflicts	CA379958503	rs_1554985305	3 SubmittersRCV000584828 RCV000635400
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 SubmittersRCV000591749 RCV001089022 RCV001137227 RCV001137226 RCV004543371
NM_001368894.2(PAX6):c.141+1G>A	SNV Germline	Chr11:31802703	Pathogenic	Condition: not provided Irido-corneo-trabecular dysgenesis Aniridia 1	Criteria Provided Multiple Submitters No Conflicts	CA379959457	rs_1554985714	2 SubmittersRCV000598846 RCV002531115
NM_001368894.2(PAX6):c.465C>G (p.Gly155=)	SNV Germline	Chr11:31800791	Conflicting classifications of pathogenicity	not specified Condition: not provided Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Conflicting Classifications	CA5933878	rs_139803630	5 SubmittersRCV000603152 RCV000877253 RCV002063099
NM_001368894.2(PAX6):c.510G>A (p.Trp170Ter)	SNV Germline	Chr11:31800746	Pathogenic	Inborn genetic diseases Aniridia 1 Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Multiple Submitters No Conflicts	CA379958053	rs_1554985028	3 SubmittersRCV000622960 RCV000984413 RCV001860432
NM_001368894.2(PAX6):c.139C>T (p.Gln47Ter)	SNV Germline	Chr11:31802706	Pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter	CA379959463	rs_1554985716	1 SubmittersRCV000635405
NM_001368894.2(PAX6):c.1130C>A (p.Ser377Ter)	SNV Germline	Chr11:31790805	Pathogenic/Likely pathogenic	Condition: not provided Aniridia 1 Irido-corneo-trabecular dysgenesis Aniridia 1	Criteria Provided Multiple Submitters No Conflicts		rs_1411880763	3 SubmittersRCV000658590 RCV003767898 RCV000984460
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 Anterior segment dysgenesis 4 Axenfeld-Rieger syndrome type 1 Irido-corneo-trabecular dysgenesis Axenfeld-Rieger syndrome type 1 Ring dermoid of cornea Cataract PITX2-related disorder	Criteria Provided Conflicting Classifications		rs_138163892	4 SubmittersRCV000754825 RCV001145719 RCV001148484 RCV001148486 RCV001361410 RCV001145721 RCV001145720 RCV001148485 RCV001148487 RCV003411587
NM_001368894.2(PAX6):c.34G>C (p.Gly12Arg)	SNV Germline	Chr11:31802811	Pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis Aniridia 1	Criteria Provided Multiple Submitters No Conflicts		rs_1565246499	2 SubmittersRCV000701816 RCV000984353
NM_001368894.2(PAX6):c.985T>C (p.Leu329=)	SNV Germline	Chr11:31793527	Conflicting classifications of pathogenicity	Condition: not provided Foveal hypoplasia 1 carboxymethyl-dextran-A2-gadolinium-DOTA Autosomal dominant keratitis Anophthalmia-microphthalmia syndrome Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Conflicting Classifications		rs_373147550	5 SubmittersRCV000761769 RCV001103480 RCV001103481 RCV001103482 RCV001103483 RCV002061032
NM_000104.4(CYP1B1):c.985G>A (p.Gly329Ser)	SNV Germline	Chr2:38074404	Conflicting classifications of pathogenicity	Glaucoma 3A Irido-corneo-trabecular dysgenesis Primary congenital glaucoma Congenital glaucoma Anterior segment dysgenesis 6	Criteria Provided Conflicting Classifications		rs_777678299	4 SubmittersRCV000779328 RCV001137342 RCV002222636 RCV002535652 RCV003467305
NM_001368894.2(PAX6):c.674A>G (p.Gln225Arg)	SNV Germline	Chr11:31794680	Likely pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter		rs_1592433640	1 SubmittersRCV000803537
NM_001368894.2(PAX6):c.1225+5G>A	SNV Germline	Chr11:31790705	Pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter		rs_1592366898	1 SubmittersRCV000815884
NM_000104.4(CYP1B1):c.1078T>C (p.Leu360=)	SNV Germline	Chr2:38071276	Conflicting classifications of pathogenicity	Congenital glaucoma Irido-corneo-trabecular dysgenesis Glaucoma 3A Condition: not provided	Criteria Provided Conflicting Classifications		rs_141245683	3 SubmittersRCV000878809 RCV001137339 RCV001137338 RCV003424434
NM_000104.4(CYP1B1):c.1047T>C (p.Tyr349=)	SNV Germline	Chr2:38071307	Conflicting classifications of pathogenicity	Congenital glaucoma Irido-corneo-trabecular dysgenesis Glaucoma 3A	Criteria Provided Conflicting Classifications		rs_775908245	2 SubmittersRCV000877786 RCV001137340 RCV001137341
NM_000104.4(CYP1B1):c.147C>A (p.Ser49=)	SNV Germline	Chr2:38075242	Conflicting classifications of pathogenicity	Glaucoma 3A Irido-corneo-trabecular dysgenesis Congenital glaucoma CYP1B1-related disorder	Criteria Provided Conflicting Classifications		rs_4987137	3 SubmittersRCV001139676 RCV001139677 RCV000877836 RCV004530877
NM_000104.4(CYP1B1):c.653A>T (p.Asp218Val)	SNV Germline	Chr2:38074736	Conflicting classifications of pathogenicity	Congenital glaucoma Irido-corneo-trabecular dysgenesis Glaucoma 3A	Criteria Provided Conflicting Classifications		rs_72549383	2 SubmittersRCV000981656 RCV001140340 RCV001140341
NM_001368894.2(PAX6):c.812G>A (p.Trp271Ter)	SNV Germline	Chr11:31793798	Pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis Aniridia 1	Criteria Provided Single Submitter		rs_1592416453	2 SubmittersRCV000984434 RCV003769284
NM_001368894.2(PAX6):c.256G>T (p.Gly86Cys)	SNV Germline	Chr11:31801704	Pathogenic/Likely pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis Aniridia 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_759557055	3 SubmittersRCV000984387 RCV002549623 RCV003117658
NM_001368894.2(PAX6):c.128C>T (p.Ser43Phe)	SNV Germline	Chr11:31802717	Pathogenic/Likely pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis Aniridia 1	Criteria Provided Multiple Submitters No Conflicts		rs_1592562836	2 SubmittersRCV000984371 RCV001058452
NM_001368894.2(PAX6):c.76C>T (p.Arg26Trp)	SNV Germline	Chr11:31802769	Pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Multiple Submitters No Conflicts		rs_121907913	3 SubmittersRCV000984359 RCV002550582 RCV003489985
NM_001368894.2(PAX6):c.959-1G>A	SNV Germline	Chr11:31793554	Pathogenic/Likely pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis Aniridia 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1592412022	3 SubmittersRCV000984447 RCV002549625 RCV003325529
NM_001368894.2(PAX6):c.958+1G>A	SNV Germline	Chr11:31793651	Pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis Aniridia 1	Criteria Provided Multiple Submitters No Conflicts		rs_1057517783	2 SubmittersRCV000984442 RCV003769285
NM_001368894.2(PAX6):c.808-1G>C	SNV Germline	Chr11:31793803	Pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis Aniridia 1	Criteria Provided Single Submitter		rs_1592416538	2 SubmittersRCV000984432 RCV001056174
NM_001368894.2(PAX6):c.622G>A (p.Gly208Arg)	SNV Germline	Chr11:31794732	Conflicting classifications of pathogenicity	Aniridia 1 Irido-corneo-trabecular dysgenesis Condition: not provided	Criteria Provided Conflicting Classifications		rs_374396492	2 SubmittersRCV001034269 RCV001772208
NM_001368894.2(PAX6):c.972A>T (p.Thr324=)	SNV Germline	Chr11:31793540	Conflicting classifications of pathogenicity	11p partial monosomy syndrome Autosomal dominant keratitis carboxymethyl-dextran-A2-gadolinium-DOTA Foveal hypoplasia 1 Anophthalmia-microphthalmia syndrome Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Conflicting Classifications		rs_779631884	2 SubmittersRCV001105398 RCV001105400 RCV001105399 RCV001105401 RCV001105397 RCV003769094
NM_001368894.2(PAX6):c.909T>C (p.Ser303=)	SNV Germline	Chr11:31793701	Conflicting classifications of pathogenicity	carboxymethyl-dextran-A2-gadolinium-DOTA Autosomal dominant keratitis 11p partial monosomy syndrome Anophthalmia-microphthalmia syndrome Foveal hypoplasia 1 Aniridia 1 Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Conflicting Classifications		rs_202154006	2 SubmittersRCV001106542 RCV001105402 RCV001105403 RCV001105404 RCV001106540 RCV001106541 RCV002067781
NM_001368894.2(PAX6):c.317G>A (p.Arg106Gln)	SNV Germline	Chr11:31801643	Conflicting classifications of pathogenicity	carboxymethyl-dextran-A2-gadolinium-DOTA Foveal hypoplasia 1 11p partial monosomy syndrome Anophthalmia-microphthalmia syndrome Autosomal dominant keratitis Aniridia 1 Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Conflicting Classifications		rs_769095184	2 SubmittersRCV001103655 RCV001103656 RCV001103657 RCV001103658 RCV001103659 RCV001104915 RCV001856403
NM_000104.4(CYP1B1):c.1089C>T (p.Val363=)	SNV Germline	Chr2:38071265	Conflicting classifications of pathogenicity	Glaucoma 3A Irido-corneo-trabecular dysgenesis Congenital glaucoma CYP1B1-related disorder	Criteria Provided Conflicting Classifications		rs_148461905	3 SubmittersRCV001142090 RCV001142089 RCV003758997 RCV004545081
NM_000104.4(CYP1B1):c.711G>T (p.Ala237=)	SNV Germline	Chr2:38074678	Conflicting classifications of pathogenicity	Glaucoma 3A Irido-corneo-trabecular dysgenesis Congenital glaucoma	Criteria Provided Conflicting Classifications		rs_780375338	2 SubmittersRCV001140337 RCV001139577 RCV003594093
NM_000104.4(CYP1B1):c.701C>T (p.Thr234Met)	SNV Germline	Chr2:38074688	Conflicting classifications of pathogenicity	Glaucoma 3A Anterior segment dysgenesis 6 Glaucoma 3A Glaucoma 3, primary infantile, B Irido-corneo-trabecular dysgenesis Congenital glaucoma not specified	Criteria Provided Conflicting Classifications		rs_375391843	4 SubmittersRCV001140339 RCV002482267 RCV001140338 RCV003594094 RCV001806028
NM_000104.4(CYP1B1):c.592G>A (p.Val198Ile)	SNV Germline	Chr2:38074797	Conflicting classifications of pathogenicity	Irido-corneo-trabecular dysgenesis Glaucoma 3A not specified Congenital glaucoma Condition: not provided Anterior segment dysgenesis 6 Glaucoma 3A Glaucoma 3, primary infantile, B	Criteria Provided Conflicting Classifications		rs_59472972	5 SubmittersRCV001142193 RCV001142194 RCV002282462 RCV003758998 RCV001759901 RCV002491424
NM_000104.4(CYP1B1):c.498C>G (p.Leu166=)	SNV Germline	Chr2:38074891	Conflicting classifications of pathogenicity	Irido-corneo-trabecular dysgenesis Glaucoma 3A Congenital glaucoma	Criteria Provided Conflicting Classifications		rs_775055418	2 SubmittersRCV001142195 RCV001142196 RCV003758999
NM_153427.3(PITX2):c.-79G>A	SNV Germline	Chr4:110636849	Conflicting classifications of pathogenicity	Axenfeld-Rieger syndrome type 1 Ring dermoid of cornea Cataract PITX2-Related Eye Abnormalities Irido-corneo-trabecular dysgenesis Hypoplasia of the iris Anterior segment dysgenesis 4	Criteria Provided Conflicting Classifications		rs_535056127	1 SubmittersRCV001145942 RCV001145940 RCV001145941 RCV001145943 RCV001148714 RCV001148715 RCV001148716
NM_153427.3(PITX2):c.-211G>A	SNV Germline	Chr4:110636981	Conflicting classifications of pathogenicity	PITX2-Related Eye Abnormalities Ring dermoid of cornea Cataract Anterior segment dysgenesis 4 Axenfeld-Rieger syndrome type 1 Irido-corneo-trabecular dysgenesis Hypoplasia of the iris	Criteria Provided Conflicting Classifications		rs_111733107	1 SubmittersRCV001148718 RCV001148720 RCV001148721 RCV001150272 RCV001148717 RCV001148719 RCV001150271
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 Axenfeld-Rieger syndrome type 1 Cataract Hypoplasia of the iris Condition: not provided	Criteria Provided Conflicting Classifications		rs_985015612	2 SubmittersRCV001144257 RCV001144258 RCV001144259 RCV001144260 RCV001150350 RCV001150349 RCV001150348 RCV002292612
NM_153427.2(PITX2):c.-793C>A	SNV Germline	Chr4:110637563	Conflicting classifications of pathogenicity	Anterior segment dysgenesis 4 Hypoplasia of the iris Irido-corneo-trabecular dysgenesis Ring dermoid of cornea Cataract Axenfeld-Rieger syndrome type 1 PITX2-Related Eye Abnormalities	Criteria Provided Conflicting Classifications		rs_145044365	1 SubmittersRCV001150572 RCV001150574 RCV001149074 RCV001149075 RCV001149076 RCV001150571 RCV001150573
NM_153427.2(PITX2):c.-967C>T	SNV Germline	Chr4:110637737	Conflicting classifications of pathogenicity	Axenfeld-Rieger syndrome type 1 Ring dermoid of cornea Anterior segment dysgenesis 4 Cataract Hypoplasia of the iris Irido-corneo-trabecular dysgenesis PITX2-Related Eye Abnormalities	Criteria Provided Conflicting Classifications		rs_368647502	1 SubmittersRCV001146419 RCV001146414 RCV001146415 RCV001146416 RCV001146417 RCV001146418 RCV001149187
NM_153427.2(PITX2):c.-1532C>A	SNV Germline	Chr4:110642066	Conflicting classifications of pathogenicity	Hypoplasia of the iris Ring dermoid of cornea Irido-corneo-trabecular dysgenesis Axenfeld-Rieger syndrome type 1 PITX2-Related Eye Abnormalities Anterior segment dysgenesis 4 Cataract	Criteria Provided Conflicting Classifications		rs_117231596	1 SubmittersRCV001147655 RCV001147652 RCV001147653 RCV001147654 RCV001147656 RCV001150999 RCV001151000
NM_001204398.1(PITX2):c.-11+12T>C	SNV Germline	Chr4:110641907	Conflicting classifications of pathogenicity	Ring dermoid of cornea Anterior segment dysgenesis 4 Axenfeld-Rieger syndrome type 1 Irido-corneo-trabecular dysgenesis Cataract Hypoplasia of the iris PITX2-Related Eye Abnormalities	Criteria Provided Conflicting Classifications		rs_140614517	1 SubmittersRCV001147559 RCV001147564 RCV001147560 RCV001147561 RCV001147562 RCV001147563 RCV001147565
NM_001368894.2(PAX6):c.527G>A (p.Trp176Ter)	SNV Germline	Chr11:31800729	Pathogenic	Irido-corneo-trabecular dysgenesis Aniridia 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1953478890	2 SubmittersRCV001212207 RCV001546575
NM_001368894.2(PAX6):c.824G>A (p.Arg275Gln)	SNV Germline	Chr11:31793786	Likely pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter		rs_1950629763	1 SubmittersRCV001237982
NM_001368894.2(PAX6):c.28C>T (p.Gln10Ter)	SNV Germline	Chr11:31802817	Pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter		rs_1954553083	1 SubmittersRCV001239061
NM_001368894.2(PAX6):c.828G>C (p.Arg276Ser)	SNV Germline	Chr11:31793782	Pathogenic	Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter		rs_1950628459	1 SubmittersRCV001269465
NM_001368894.2(PAX6):c.38G>C (p.Gly13Ala)	SNV Germline	Chr11:31802807	Pathogenic	Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter		rs_1954548195	1 SubmittersRCV001269464
NM_001368894.2(PAX6):c.52G>A (p.Gly18Arg)	SNV Germline	Chr11:31802793	Pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter		rs_886044289	1 SubmittersRCV001388985
NM_001368894.2(PAX6):c.807+6G>A	SNV Germline	Chr11:31794026	Conflicting classifications of pathogenicity	Condition: not provided Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Conflicting Classifications		rs_375134684	2 SubmittersRCV001550932 RCV002568324
NM_001368894.2(PAX6):c.1090C>T (p.Gln364Ter)	SNV Germline	Chr11:31790845	Pathogenic	Condition: not provided Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Multiple Submitters No Conflicts		rs_1237278944	2 SubmittersRCV001658768 RCV003771817
NM_001368894.2(PAX6):c.958+4A>T	SNV Germline	Chr11:31793648	Conflicting classifications of pathogenicity	Aniridia 1 Irido-corneo-trabecular dysgenesis Condition: not provided	Criteria Provided Conflicting Classifications		rs_765926181	3 SubmittersRCV002007882 RCV002253994
NM_001368894.2(PAX6):c.709G>T (p.Glu237Ter)	SNV Germline	Chr11:31794645	Pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter		rs_2134655427	1 SubmittersRCV002035231
NM_001368894.2(PAX6):c.225C>A (p.Tyr75Ter)	SNV Germline	Chr11:31801735	Pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter		rs_760490431	1 SubmittersRCV002037739
NM_001368894.2(PAX6):c.269C>T (p.Pro90Leu)	SNV Germline	Chr11:31801691	Likely pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter		rs_2135096558	1 SubmittersRCV001966495
NM_001368894.2(PAX6):c.141G>T (p.Gln47His)	SNV Germline	Chr11:31802704	Conflicting classifications of pathogenicity	Irido-corneo-trabecular dysgenesis Aniridia 1 Aniridia 1	Criteria Provided Conflicting Classifications		rs_2135147324	3 SubmittersRCV002026301 RCV002471220
NM_001368894.2(PAX6):c.425G>C (p.Arg142Pro)	SNV Germline	Chr11:31800831	Pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter		rs_1592531953	1 SubmittersRCV001972713
NM_001368894.2(PAX6):c.1225G>A (p.Gly409Arg)	SNV Germline	Chr11:31790710	Pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter		rs_1131692318	1 SubmittersRCV001975226
NM_001368894.2(PAX6):c.399+1G>C	SNV Germline	Chr11:31801560	Pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter		rs_398123295	1 SubmittersRCV001963138
NM_001368894.2(PAX6):c.400-2A>T	SNV Germline	Chr11:31800858	Pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter		rs_1592532580	1 SubmittersRCV001975078
NM_001368894.2(PAX6):c.399+2T>C	SNV Germline	Chr11:31801559	Pathogenic	Irido-corneo-trabecular dysgenesis Aniridia 1	Criteria Provided Single Submitter		rs_2135086958	1 SubmittersRCV001962494
NM_001368894.2(PAX6):c.269C>A (p.Pro90Gln)	SNV Germline	Chr11:31801691	Likely pathogenic	Irido-corneo-trabecular dysgenesis Aniridia 1	Criteria Provided Single Submitter		rs_2135096558	1 SubmittersRCV001976953
NM_001368894.2(PAX6):c.1074+1G>C	SNV Germline	Chr11:31793437	Pathogenic	Irido-corneo-trabecular dysgenesis Aniridia 1 Aniridia 1	Criteria Provided Multiple Submitters No Conflicts		rs_1950507886	2 SubmittersRCV001946374 RCV003336466
NM_001368894.2(PAX6):c.462C>T (p.Asp154=)	SNV Germline	Chr11:31800794	Conflicting classifications of pathogenicity	Aniridia 1 Irido-corneo-trabecular dysgenesis Condition: not provided	Criteria Provided Conflicting Classifications		rs_1800427	2 SubmittersRCV002218476 RCV003130686
NM_001368894.2(PAX6):c.260G>A (p.Gly87Asp)	SNV Germline	Chr11:31801700	Conflicting classifications of pathogenicity	Irido-corneo-trabecular dysgenesis Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Conflicting Classifications		rs_2135097306	2 SubmittersRCV002245510 RCV003093967
NM_001368894.2(PAX6):c.1166C>A (p.Pro389Gln)	SNV Germline	Chr11:31790769	Conflicting classifications of pathogenicity	not specified Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Conflicting Classifications		rs_200015827	2 SubmittersRCV002248079 RCV003093992
NM_001202.6(BMP4):c.1118G>A (p.Cys373Tyr)	SNV Germline	Chr14:53950141	Likely pathogenic	Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter			1 SubmittersRCV002291345
NM_001368894.2(PAX6):c.86T>C (p.Ile29Thr)	SNV Germline	Chr11:31802759	Conflicting classifications of pathogenicity	Condition: not provided Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Conflicting Classifications			2 SubmittersRCV002292107 RCV003097807
NM_001368894.2(PAX6):c.319G>T (p.Glu107Ter)	SNV Germline	Chr11:31801641	Pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter			1 SubmittersRCV003062353
NM_001368894.2(PAX6):c.256G>A (p.Gly86Ser)	SNV Germline	Chr11:31801704	Pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter			1 SubmittersRCV003037378
NM_001368894.2(PAX6):c.199G>C (p.Val67Leu)	SNV Germline	Chr11:31801761	Likely pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter			1 SubmittersRCV003037379
NM_001368894.2(PAX6):c.52G>T (p.Gly18Trp)	SNV Germline	Chr11:31802793	Likely pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter			1 SubmittersRCV003058300
NM_001368894.2(PAX6):c.10+1G>A	SNV Germline	Chr11:31806401	Pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter			1 SubmittersRCV003062355
NM_001368894.2(PAX6):c.4C>T (p.Gln2Ter)	SNV Germline	Chr11:31806408	Pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter			1 SubmittersRCV003062356
NM_001368894.2(PAX6):c.113G>A (p.Arg38Gln)	SNV Germline	Chr11:31802732	Pathogenic/Likely pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis Irido-corneo-trabecular dysgenesis Coloboma, ocular, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV003074949 RCV003491223 RCV003883472
NM_001368894.2(PAX6):c.113G>C (p.Arg38Pro)	SNV Germline	Chr11:31802732	Likely pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter			1 SubmittersRCV002632616
NM_001368894.2(PAX6):c.337G>A (p.Ala113Thr)	SNV Germline	Chr11:31801623	Likely pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter			1 SubmittersRCV002806654
NM_001368894.2(PAX6):c.684A>T (p.Arg228Ser)	SNV Germline	Chr11:31794670	Pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter			1 SubmittersRCV002824883
NM_001368894.2(PAX6):c.198T>G (p.Cys66Trp)	SNV Germline	Chr11:31801762	Likely pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter			1 SubmittersRCV002856977
NM_001368894.2(PAX6):c.359T>C (p.Leu120Ser)	SNV Germline	Chr11:31801601	Pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter			1 SubmittersRCV002863142
NM_001368894.2(PAX6):c.1225+5G>T	SNV Germline	Chr11:31790705	Likely pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter			1 SubmittersRCV002871967
NM_001368894.2(PAX6):c.807G>A (p.Gln269=)	SNV Germline	Chr11:31794032	Likely pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter			1 SubmittersRCV003034880
NM_001368894.2(PAX6):c.566-1G>T	SNV Germline	Chr11:31794789	Pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter			1 SubmittersRCV003054437
NM_001368894.2(PAX6):c.745C>A (p.Pro249Thr)	SNV Germline	Chr11:31794094	Likely pathogenic	Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter			1 SubmittersRCV003491359
NM_001845.6(COL4A1):c.388G>T (p.Gly130Trp)	SNV Germline	Chr13:110211922	Pathogenic/Likely pathogenic	Irido-corneo-trabecular dysgenesis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003389588 RCV003778172
NM_001368894.2(PAX6):c.622G>T (p.Gly208Ter)	SNV Germline	Chr11:31794732	Pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter			1 SubmittersRCV003783563
NM_001368894.2(PAX6):c.496C>T (p.Gln166Ter)	SNV Germline	Chr11:31800760	Pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter			1 SubmittersRCV003783564
NM_001368894.2(PAX6):c.724+1G>A	SNV Germline	Chr11:31794629	Likely pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter			1 SubmittersRCV003803251
NM_001368894.2(PAX6):c.415A>G (p.Arg139Gly)	SNV Germline	Chr11:31800841	Pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter			1 SubmittersRCV003815288
NM_001368894.2(PAX6):c.109G>C (p.Ala37Pro)	SNV Germline	Chr11:31802736	Likely pathogenic	Aniridia 1 Irido-corneo-trabecular dysgenesis	Criteria Provided Single Submitter			1 SubmittersRCV003813325

NM_001368894.2(PAX6):c.349C>T (p.Arg117Ter)

SNV
Germline

Chr11:31801611

Pathogenic

Aniridia 1
Condition: not provided
Irido-corneo-trabecular dysgenesis
Aniridia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA252789

rs_121907914

5 SubmittersRCV000003629 RCV000414332 RCV001851620

NM_001368894.2(PAX6):c.649C>T (p.Arg217Ter)

SNV
Germline

Chr11:31794705

Pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis
Aniridia 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA220596

rs_121907916

7 SubmittersRCV000003631 RCV000543409 RCV000790810

NM_001368894.2(PAX6):c.760C>T (p.Arg254Ter)

SNV
Germline

Chr11:31794079

Pathogenic

Aniridia 1
Condition: not provided
Irido-corneo-trabecular dysgenesis
Aniridia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA252793

rs_121907917

7 SubmittersRCV000003632 RCV000312176 RCV000536976

NM_001368894.2(PAX6):c.1075-2A>G

SNV
Germline

Chr11:31790862

Pathogenic

Aniridia 1
Condition: not provided
Irido-corneo-trabecular dysgenesis
Aniridia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA252797

rs_794726661

3 SubmittersRCV000003633 RCV000414592 RCV001238030

NM_001368894.2(PAX6):c.424C>T (p.Arg142Cys)

SNV
Germline

Chr11:31800832

Pathogenic

Foveal hypoplasia 1
Aniridia 1
Irido-corneo-trabecular dysgenesis
Aniridia 1

Criteria Provided
Single Submitter

CA116221

rs_121907918

3 SubmittersRCV000003635 RCV000984410 RCV001851621

NM_001368894.2(PAX6):c.419T>A (p.Val140Asp)

SNV
Germline

Chr11:31800837

Likely pathogenic

Aniridia, atypical
Irido-corneo-trabecular dysgenesis
Aniridia 1

Criteria Provided
Single Submitter

CA116224

rs_121907919

2 SubmittersRCV000003636 RCV002512714

NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu)

SNV
Germline

Chr11:31789935

Conflicting classifications of pathogenicity

Aniridia 1
Condition: not provided
8 conditions
Irido-corneo-trabecular dysgenesis
Aniridia 1
Visual impairment
Nystagmus
Hypertelorism

Criteria Provided
Conflicting Classifications

CA252798

rs_121907922

10 SubmittersRCV000003642 RCV000327291 RCV000762838 RCV000805010 RCV000785745

NM_001368894.2(PAX6):c.655C>T (p.Gln219Ter)

SNV
Germline

Chr11:31794699

Pathogenic

Isolated optic nerve hypoplasia
Condition: not provided
Irido-corneo-trabecular dysgenesis
Aniridia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA116237

rs_121907924

3 SubmittersRCV000003644 RCV000481122 RCV001246978

NM_001368894.2(PAX6):c.-129+2T>A

SNV
Germline

Chr11:31810826

Pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis
Aniridia 1

Criteria Provided
Single Submitter

CA10575482

rs_878852979

3 SubmittersRCV000003651 RCV003764525

NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter)

SNV
Germline

Chr2:38075218

Pathogenic/Likely pathogenic

Irido-corneo-trabecular dysgenesis
Glaucoma 3A
Anterior segment dysgenesis 6
CYP1B1-related disorder
Congenital glaucoma
Condition: not provided
Anterior segment dysgenesis 6
Glaucoma 3, primary infantile, B
Glaucoma 3A
Anterior segment dysgenesis

Criteria Provided
Multiple Submitters
No Conflicts

CA119014

rs_72549387

12 SubmittersRCV000008176 RCV000169657 RCV000416316 RCV000331073 RCV000692947 RCV000489919 RCV000763084 RCV001200036

NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)

SNV
Germline

Chr2:38071251

Conflicting classifications of pathogenicity

Glaucoma, early-onset, digenic
Glaucoma 3A
Congenital ocular coloboma
Condition: not provided
Glaucoma 3A
Irido-corneo-trabecular dysgenesis
CYP1B1-related disorder
Congenital glaucoma
not specified
Myopathy, centronuclear, 5
Anterior segment dysgenesis 6

Criteria Provided
Conflicting Classifications

CA119016

rs_79204362

22 SubmittersRCV000008178 RCV000023146 RCV000059335 RCV000489962 RCV000709869 RCV000778148 RCV001083921 RCV000844695 RCV001258308 RCV003466835

NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn)

SNV
Germline

Chr2:38075148

Conflicting classifications of pathogenicity

Primary open angle glaucoma
not specified
Congenital ocular coloboma
Irido-corneo-trabecular dysgenesis
Congenital glaucoma
Glaucoma 3A
Condition: not provided
Anterior segment dysgenesis

Criteria Provided
Conflicting Classifications

CA145182

rs_9282671

8 SubmittersRCV000008185 RCV000078126 RCV000059337 RCV001139670 RCV001087298 RCV001139671 RCV000766838 RCV002470703

NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln)

SNV
Germline

Chr9:14842561

Conflicting classifications of pathogenicity

Trigonocephaly 2
Condition: not provided
Irido-corneo-trabecular dysgenesis
Rieger anomaly
Oculotrichoanal syndrome

Criteria Provided
Conflicting Classifications

CA129451

rs_184394424

9 SubmittersRCV000023746 RCV000059636 RCV000207399 RCV000988143

NM_001368894.2(PAX6):c.112C>T (p.Arg38Trp)

SNV
Germline

Chr11:31802733

Pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis
Aniridia 1
Coloboma, ocular, autosomal dominant

Criteria Provided
Single Submitter

CA261246

rs_397514640

2 SubmittersRCV000033168 RCV003764654 RCV003883464

NM_001368894.2(PAX6):c.194G>T (p.Gly65Val)

SNV
Germline

Chr11:31801766

Pathogenic/Likely pathogenic

Irido-corneo-trabecular dysgenesis
Anterior segment dysgenesis

No Assertion Criteria Provided

CA145185

rs_587778874

1 SubmittersRCV000059340 RCV001200041

NM_001368894.2(PAX6):c.399+1G>A

SNV
Germline

Chr11:31801560

Pathogenic

Condition: not provided
Aniridia 1
Irido-corneo-trabecular dysgenesis
Aniridia 1
PAX6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA220594

rs_398123295

8 SubmittersRCV000078543 RCV000707094 RCV000984403 RCV004537306

NM_000264.5(PTCH1):c.3947A>G (p.Tyr1316Cys)

SNV
Germline

Chr9:95447309

Conflicting classifications of pathogenicity

Rieger anomaly
Irido-corneo-trabecular dysgenesis
Hereditary cancer-predisposing syndrome
Holoprosencephaly 7
Condition: not provided
Gorlin syndrome
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA332023

rs_147067171

7 SubmittersRCV000207364 RCV000492441 RCV001166719 RCV000588636 RCV001084106 RCV004551169

NM_001368894.2(PAX6):c.1032G>A (p.Pro344=)

SNV
Germline

Chr11:31793480

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Aniridia 1
Irido-corneo-trabecular dysgenesis
PAX6-related disorder

Criteria Provided
Conflicting Classifications

CA234479

rs_146261351

4 SubmittersRCV000153640 RCV000723685 RCV001518660 RCV004532730

NM_001291303.3(FAT4):c.131A>C (p.Glu44Ala)

SNV
Germline

Chr4:125316542

Conflicting classifications of pathogenicity

Anophthalmia-microphthalmia syndrome
Irido-corneo-trabecular dysgenesis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA071916

rs_200221425

4 SubmittersRCV000207378 RCV001497990

NM_005245.4(FAT1):c.4336G>A (p.Val1446Ile)

SNV
Germline

Chr4:186628751

Conflicting classifications of pathogenicity

Irido-corneo-trabecular dysgenesis
Anophthalmia-microphthalmia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA072793

rs_200828005

2 SubmittersRCV000207426 RCV001853287

NM_000264.5(PTCH1):c.2695A>G (p.Ile899Val)

SNV
Germline

Chr9:95461864

Conflicting classifications of pathogenicity

Irido-corneo-trabecular dysgenesis
Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA072669

rs_765371196

4 SubmittersRCV000207421 RCV000791706 RCV002433914 RCV003477709

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 SubmittersRCV000490499 RCV001137457 RCV002265688 RCV003758727

NM_001368894.2(PAX6):c.808-12C>T

SNV
Germline/somatic

Chr11:31793814

Conflicting classifications of pathogenicity

not specified
Aniridia 1
Autosomal dominant keratitis
Anophthalmia-microphthalmia syndrome
Foveal hypoplasia 1
11p partial monosomy syndrome
carboxymethyl-dextran-A2-gadolinium-DOTA
Aniridia, Cerebellar Ataxia, And Intellectual Disability
Condition: not provided
Aniridia 1
Irido-corneo-trabecular dysgenesis
Abnormality of refraction

Criteria Provided
Conflicting Classifications

CA5933790

rs_667773

11 SubmittersRCV000248742 RCV000284718 RCV000269341 RCV000329038 RCV000339789 RCV000380248 RCV000383559 RCV000382578 RCV001683027 RCV001512870 RCV002226702

NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter)

SNV
Germline

Chr11:31793787

Pathogenic

Condition: not provided
8 conditions
Aniridia 1
Aniridia 1
Irido-corneo-trabecular dysgenesis
PAX6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10603114

rs_886041222

8 SubmittersRCV000272207 RCV000762839 RCV000496007 RCV000547174 RCV004545764

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
Ring dermoid of cornea
Hypoplasia of the iris
Axenfeld-Rieger syndrome type 1
Anterior segment dysgenesis 1
Cataract
Axenfeld-Rieger syndrome type 1
Anterior segment dysgenesis 4
PITX2-related disorder

Criteria Provided
Conflicting Classifications

CA3045450

rs_141176394

4 SubmittersRCV000270853 RCV000291700 RCV000295266 RCV000352445 RCV000348827 RCV000383692 RCV000399939 RCV000391418 RCV001088993 RCV003930082

NM_001368894.2(PAX6):c.52G>C (p.Gly18Arg)

SNV
Germline

Chr11:31802793

Pathogenic/Likely pathogenic

Condition: not provided
Aniridia 1
Irido-corneo-trabecular dysgenesis
PAX6-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10606574

rs_886044289

3 SubmittersRCV000317485 RCV000635404 RCV003401272

NM_001368894.2(PAX6):c.1179A>C (p.Thr393=)

SNV
Germline

Chr11:31790756

Conflicting classifications of pathogenicity

Condition: not provided
Aniridia, Cerebellar Ataxia, And Intellectual Disability
carboxymethyl-dextran-A2-gadolinium-DOTA
11p partial monosomy syndrome
Autosomal dominant keratitis
Foveal hypoplasia 1
Anophthalmia-microphthalmia syndrome
Aniridia 1
Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Conflicting Classifications

CA5933672

rs_143477661

6 SubmittersRCV000297452 RCV000301599 RCV000291396 RCV000342402 RCV000346346 RCV000395656 RCV000381110 RCV000400886 RCV001086844

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 SubmittersRCV000343927 RCV000402292 RCV003593950

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 SubmittersRCV000281312 RCV000296524 RCV000302839 RCV000335094 RCV000338713 RCV000373500 RCV000393039

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
Condition: not provided
Axenfeld-Rieger syndrome type 1
Anterior segment dysgenesis 4

Criteria Provided
Conflicting Classifications

CA3045413

rs_139401187

3 SubmittersRCV000262048 RCV000296840 RCV000312236 RCV000354089 RCV000369215 RCV000403804 RCV000408426 RCV003437101 RCV002057905

NM_000325.6(PITX2):c.224A>C (p.Gln75Pro)

SNV
Germline

Chr4:110621351

Conflicting classifications of pathogenicity

Axenfeld-Rieger syndrome type 1
Irido-corneo-trabecular dysgenesis
Hypoplasia of the iris
Ring dermoid of cornea
Anterior segment dysgenesis 1
Cataract
PITX2-Related Eye Abnormalities
Anterior segment dysgenesis 4
Axenfeld-Rieger syndrome type 1

Criteria Provided
Conflicting Classifications

CA3045542

rs_201628949

2 SubmittersRCV000264197 RCV000300585 RCV000304723 RCV000344354 RCV000355389 RCV000359478 RCV000393111 RCV003766004

NM_001368894.2(PAX6):c.753G>A (p.Val251=)

SNV
Germline

Chr11:31794086

Conflicting classifications of pathogenicity

Aniridia, Cerebellar Ataxia, And Intellectual Disability
Autosomal dominant keratitis
Anophthalmia-microphthalmia syndrome
Foveal hypoplasia 1
Aniridia 1
carboxymethyl-dextran-A2-gadolinium-DOTA
11p partial monosomy syndrome
Condition: not provided
Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Conflicting Classifications

CA5933808

rs_145329506

7 SubmittersRCV000285944 RCV000301339 RCV000310966 RCV000336368 RCV000337620 RCV000394809 RCV000398566 RCV001566375 RCV001514487

NM_001368894.2(PAX6):c.873G>A (p.Gln291=)

SNV
Germline

Chr11:31793737

Conflicting classifications of pathogenicity

Aniridia, Cerebellar Ataxia, And Intellectual Disability
carboxymethyl-dextran-A2-gadolinium-DOTA
11p partial monosomy syndrome
Foveal hypoplasia 1
Anophthalmia-microphthalmia syndrome
Aniridia 1
Autosomal dominant keratitis
Aniridia 1
Irido-corneo-trabecular dysgenesis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5933788

rs_149053004

6 SubmittersRCV000263284 RCV000273738 RCV000299533 RCV000298558 RCV000353328 RCV000333506 RCV000368216 RCV000865074 RCV001683229

NM_001368894.2(PAX6):c.991C>T (p.Arg331Ter)

SNV
Germline

Chr11:31793521

Pathogenic

Condition: not provided
Aniridia 1
Irido-corneo-trabecular dysgenesis
Aniridia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16042781

rs_1057517785

4 SubmittersRCV000413962 RCV000557326 RCV000984450

NM_001368894.2(PAX6):c.528G>A (p.Trp176Ter)

SNV
Germline

Chr11:31800728

Pathogenic/Likely pathogenic

Condition: not provided
Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Multiple Submitters
No Conflicts

CA16605908

rs_1057520755

2 SubmittersRCV000419144 RCV001036942

NM_001368894.2(PAX6):c.959-3C>G

SNV
Germline

Chr11:31793556

Pathogenic/Likely pathogenic

Condition: not provided
Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Multiple Submitters
No Conflicts

CA16606306

rs_1057523821

2 SubmittersRCV000423209 RCV001865384

NM_001368894.2(PAX6):c.836G>A (p.Trp279Ter)

SNV
Germline

Chr11:31793774

Pathogenic

Aniridia 1
Condition: not provided
Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Multiple Submitters
No Conflicts

CA379956524

rs_1131692314

5 SubmittersRCV000495982 RCV000627252 RCV003766788

NM_001368894.2(PAX6):c.703C>T (p.Gln235Ter)

SNV
Germline

Chr11:31794651

Pathogenic

Aniridia 1
Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

CA379956848

rs_1131692309

3 SubmittersRCV000496039 RCV002527124

NM_001368894.2(PAX6):c.553C>T (p.Gln185Ter)

SNV
Germline

Chr11:31800703

Pathogenic

Aniridia 1
Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

CA379957911

rs_1131692308

3 SubmittersRCV000496078 RCV000635403

NM_001368894.2(PAX6):c.445C>T (p.Gln149Ter)

SNV
Germline

Chr11:31800811

Pathogenic

Aniridia 1
Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Multiple Submitters
No Conflicts

CA379958293

rs_1131692304

3 SubmittersRCV000496038 RCV000699145

NM_001368894.2(PAX6):c.307C>T (p.Gln103Ter)

SNV
Germline

Chr11:31801653

Pathogenic

Aniridia 1
Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

CA379958636

rs_1131692297

2 SubmittersRCV000495990 RCV001865557

NM_001368894.2(PAX6):c.184-5T>G

SNV
Germline

Chr11:31801781

Pathogenic

Aniridia 1
Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

CA645372131

rs_1131692292

2 SubmittersRCV000496014 RCV003766787

NM_001368894.2(PAX6):c.1A>G (p.Met1Val)

SNV
Germline

Chr11:31806411

Pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

CA379960125

rs_1131692284

2 SubmittersRCV000496024 RCV003488635

NM_001368894.2(PAX6):c.1A>C (p.Met1Leu)

SNV
Germline

Chr11:31806411

Pathogenic

Aniridia 1
Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

CA379960126

rs_1131692284

2 SubmittersRCV000496060 RCV000635401

NM_001368894.2(PAX6):c.120C>A (p.Cys40Ter)

SNV
Germline

Chr11:31802725

Pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

CA379959502

rs_1329112134

1 SubmittersRCV000527030

NM_001368894.2(PAX6):c.399+4A>T

SNV
Germline

Chr11:31801557

Pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

CA658658046

rs_1554985282

1 SubmittersRCV000541017

NM_001368894.2(PAX6):c.3G>A (p.Met1Ile)

SNV
Germline

Chr11:31806409

Pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

CA379960119

rs_1554986754

1 SubmittersRCV000544207

NM_001368894.2(PAX6):c.407C>A (p.Ser136Ter)

SNV
Germline

Chr11:31800849

Pathogenic/Likely pathogenic

Condition: not provided
Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Multiple Submitters
No Conflicts

CA379958404

rs_1554985100

2 SubmittersRCV000579376 RCV003767251

NM_001368894.2(PAX6):c.862C>T (p.Gln288Ter)

SNV
Germline

Chr11:31793748

Pathogenic

Aniridia 1
Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Multiple Submitters
No Conflicts

CA379956461

rs_1554983229

2 SubmittersRCV000584784 RCV001853950

NM_001368894.2(PAX6):c.580C>T (p.Gln194Ter)

SNV
Germline

Chr11:31794774

Pathogenic

Aniridia 1
Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Multiple Submitters
No Conflicts

CA379957173

rs_1554983571

2 SubmittersRCV000584776 RCV002530828

NM_001368894.2(PAX6):c.367G>T (p.Glu123Ter)

SNV
Germline

Chr11:31801593

Pathogenic

Aniridia 1
Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Multiple Submitters
No Conflicts

CA379958503

rs_1554985305

3 SubmittersRCV000584828 RCV000635400

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 SubmittersRCV000591749 RCV001089022 RCV001137227 RCV001137226 RCV004543371

NM_001368894.2(PAX6):c.141+1G>A

SNV
Germline

Chr11:31802703

Pathogenic

Condition: not provided
Irido-corneo-trabecular dysgenesis
Aniridia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA379959457

rs_1554985714

2 SubmittersRCV000598846 RCV002531115

NM_001368894.2(PAX6):c.465C>G (p.Gly155=)

SNV
Germline

Chr11:31800791

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Conflicting Classifications

CA5933878

rs_139803630

5 SubmittersRCV000603152 RCV000877253 RCV002063099

NM_001368894.2(PAX6):c.510G>A (p.Trp170Ter)

SNV
Germline

Chr11:31800746

Pathogenic

Inborn genetic diseases
Aniridia 1
Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Multiple Submitters
No Conflicts

CA379958053

rs_1554985028

3 SubmittersRCV000622960 RCV000984413 RCV001860432

NM_001368894.2(PAX6):c.139C>T (p.Gln47Ter)

SNV
Germline

Chr11:31802706

Pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

CA379959463

rs_1554985716

1 SubmittersRCV000635405

NM_001368894.2(PAX6):c.1130C>A (p.Ser377Ter)

SNV
Germline

Chr11:31790805

Pathogenic/Likely pathogenic

Condition: not provided
Aniridia 1
Irido-corneo-trabecular dysgenesis
Aniridia 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1411880763

3 SubmittersRCV000658590 RCV003767898 RCV000984460

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
Anterior segment dysgenesis 4
Axenfeld-Rieger syndrome type 1
Irido-corneo-trabecular dysgenesis
Axenfeld-Rieger syndrome type 1
Ring dermoid of cornea
Cataract
PITX2-related disorder

Criteria Provided
Conflicting Classifications

rs_138163892

4 SubmittersRCV000754825 RCV001145719 RCV001148484 RCV001148486 RCV001361410 RCV001145721 RCV001145720 RCV001148485 RCV001148487 RCV003411587

NM_001368894.2(PAX6):c.34G>C (p.Gly12Arg)

SNV
Germline

Chr11:31802811

Pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis
Aniridia 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565246499

2 SubmittersRCV000701816 RCV000984353

NM_001368894.2(PAX6):c.985T>C (p.Leu329=)

SNV
Germline

Chr11:31793527

Conflicting classifications of pathogenicity

Condition: not provided
Foveal hypoplasia 1
carboxymethyl-dextran-A2-gadolinium-DOTA
Autosomal dominant keratitis
Anophthalmia-microphthalmia syndrome
Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Conflicting Classifications

rs_373147550

5 SubmittersRCV000761769 RCV001103480 RCV001103481 RCV001103482 RCV001103483 RCV002061032

NM_000104.4(CYP1B1):c.985G>A (p.Gly329Ser)

SNV
Germline

Chr2:38074404

Conflicting classifications of pathogenicity

Glaucoma 3A
Irido-corneo-trabecular dysgenesis
Primary congenital glaucoma
Congenital glaucoma
Anterior segment dysgenesis 6

Criteria Provided
Conflicting Classifications

rs_777678299

4 SubmittersRCV000779328 RCV001137342 RCV002222636 RCV002535652 RCV003467305

NM_001368894.2(PAX6):c.674A>G (p.Gln225Arg)

SNV
Germline

Chr11:31794680

Likely pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

rs_1592433640

1 SubmittersRCV000803537

NM_001368894.2(PAX6):c.1225+5G>A

SNV
Germline

Chr11:31790705

Pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

rs_1592366898

1 SubmittersRCV000815884

NM_000104.4(CYP1B1):c.1078T>C (p.Leu360=)

SNV
Germline

Chr2:38071276

Conflicting classifications of pathogenicity

Congenital glaucoma
Irido-corneo-trabecular dysgenesis
Glaucoma 3A
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_141245683

3 SubmittersRCV000878809 RCV001137339 RCV001137338 RCV003424434

NM_000104.4(CYP1B1):c.1047T>C (p.Tyr349=)

SNV
Germline

Chr2:38071307

Conflicting classifications of pathogenicity

Congenital glaucoma
Irido-corneo-trabecular dysgenesis
Glaucoma 3A

Criteria Provided
Conflicting Classifications

rs_775908245

2 SubmittersRCV000877786 RCV001137340 RCV001137341

NM_000104.4(CYP1B1):c.147C>A (p.Ser49=)

SNV
Germline

Chr2:38075242

Conflicting classifications of pathogenicity

Glaucoma 3A
Irido-corneo-trabecular dysgenesis
Congenital glaucoma
CYP1B1-related disorder

Criteria Provided
Conflicting Classifications

rs_4987137

3 SubmittersRCV001139676 RCV001139677 RCV000877836 RCV004530877

NM_000104.4(CYP1B1):c.653A>T (p.Asp218Val)

SNV
Germline

Chr2:38074736

Conflicting classifications of pathogenicity

Congenital glaucoma
Irido-corneo-trabecular dysgenesis
Glaucoma 3A

Criteria Provided
Conflicting Classifications

rs_72549383

2 SubmittersRCV000981656 RCV001140340 RCV001140341

NM_001368894.2(PAX6):c.812G>A (p.Trp271Ter)

SNV
Germline

Chr11:31793798

Pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis
Aniridia 1

Criteria Provided
Single Submitter

rs_1592416453

2 SubmittersRCV000984434 RCV003769284

NM_001368894.2(PAX6):c.256G>T (p.Gly86Cys)

SNV
Germline

Chr11:31801704

Pathogenic/Likely pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis
Aniridia 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_759557055

3 SubmittersRCV000984387 RCV002549623 RCV003117658

NM_001368894.2(PAX6):c.128C>T (p.Ser43Phe)

SNV
Germline

Chr11:31802717

Pathogenic/Likely pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis
Aniridia 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1592562836

2 SubmittersRCV000984371 RCV001058452

NM_001368894.2(PAX6):c.76C>T (p.Arg26Trp)

SNV
Germline

Chr11:31802769

Pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis
Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Multiple Submitters
No Conflicts

rs_121907913

3 SubmittersRCV000984359 RCV002550582 RCV003489985

NM_001368894.2(PAX6):c.959-1G>A

SNV
Germline

Chr11:31793554

Pathogenic/Likely pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis
Aniridia 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1592412022

3 SubmittersRCV000984447 RCV002549625 RCV003325529

NM_001368894.2(PAX6):c.958+1G>A

SNV
Germline

Chr11:31793651

Pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis
Aniridia 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1057517783

2 SubmittersRCV000984442 RCV003769285

NM_001368894.2(PAX6):c.808-1G>C

SNV
Germline

Chr11:31793803

Pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis
Aniridia 1

Criteria Provided
Single Submitter

rs_1592416538

2 SubmittersRCV000984432 RCV001056174

NM_001368894.2(PAX6):c.622G>A (p.Gly208Arg)

SNV
Germline

Chr11:31794732

Conflicting classifications of pathogenicity

Aniridia 1
Irido-corneo-trabecular dysgenesis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_374396492

2 SubmittersRCV001034269 RCV001772208

NM_001368894.2(PAX6):c.972A>T (p.Thr324=)

SNV
Germline

Chr11:31793540

Conflicting classifications of pathogenicity

11p partial monosomy syndrome
Autosomal dominant keratitis
carboxymethyl-dextran-A2-gadolinium-DOTA
Foveal hypoplasia 1
Anophthalmia-microphthalmia syndrome
Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Conflicting Classifications

rs_779631884

2 SubmittersRCV001105398 RCV001105400 RCV001105399 RCV001105401 RCV001105397 RCV003769094

NM_001368894.2(PAX6):c.909T>C (p.Ser303=)

SNV
Germline

Chr11:31793701

Conflicting classifications of pathogenicity

carboxymethyl-dextran-A2-gadolinium-DOTA
Autosomal dominant keratitis
11p partial monosomy syndrome
Anophthalmia-microphthalmia syndrome
Foveal hypoplasia 1
Aniridia 1
Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Conflicting Classifications

rs_202154006

2 SubmittersRCV001106542 RCV001105402 RCV001105403 RCV001105404 RCV001106540 RCV001106541 RCV002067781

NM_001368894.2(PAX6):c.317G>A (p.Arg106Gln)

SNV
Germline

Chr11:31801643

Conflicting classifications of pathogenicity

carboxymethyl-dextran-A2-gadolinium-DOTA
Foveal hypoplasia 1
11p partial monosomy syndrome
Anophthalmia-microphthalmia syndrome
Autosomal dominant keratitis
Aniridia 1
Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Conflicting Classifications

rs_769095184

2 SubmittersRCV001103655 RCV001103656 RCV001103657 RCV001103658 RCV001103659 RCV001104915 RCV001856403

NM_000104.4(CYP1B1):c.1089C>T (p.Val363=)

SNV
Germline

Chr2:38071265

Conflicting classifications of pathogenicity

Glaucoma 3A
Irido-corneo-trabecular dysgenesis
Congenital glaucoma
CYP1B1-related disorder

Criteria Provided
Conflicting Classifications

rs_148461905

3 SubmittersRCV001142090 RCV001142089 RCV003758997 RCV004545081

NM_000104.4(CYP1B1):c.711G>T (p.Ala237=)

SNV
Germline

Chr2:38074678

Conflicting classifications of pathogenicity

Glaucoma 3A
Irido-corneo-trabecular dysgenesis
Congenital glaucoma

Criteria Provided
Conflicting Classifications

rs_780375338

2 SubmittersRCV001140337 RCV001139577 RCV003594093

NM_000104.4(CYP1B1):c.701C>T (p.Thr234Met)

SNV
Germline

Chr2:38074688

Conflicting classifications of pathogenicity

Glaucoma 3A
Anterior segment dysgenesis 6
Glaucoma 3A
Glaucoma 3, primary infantile, B
Irido-corneo-trabecular dysgenesis
Congenital glaucoma
not specified

Criteria Provided
Conflicting Classifications

rs_375391843

4 SubmittersRCV001140339 RCV002482267 RCV001140338 RCV003594094 RCV001806028

NM_000104.4(CYP1B1):c.592G>A (p.Val198Ile)

SNV
Germline

Chr2:38074797

Conflicting classifications of pathogenicity

Irido-corneo-trabecular dysgenesis
Glaucoma 3A
not specified
Congenital glaucoma
Condition: not provided
Anterior segment dysgenesis 6
Glaucoma 3A
Glaucoma 3, primary infantile, B

Criteria Provided
Conflicting Classifications

rs_59472972

5 SubmittersRCV001142193 RCV001142194 RCV002282462 RCV003758998 RCV001759901 RCV002491424

NM_000104.4(CYP1B1):c.498C>G (p.Leu166=)

SNV
Germline

Chr2:38074891

Conflicting classifications of pathogenicity

Irido-corneo-trabecular dysgenesis
Glaucoma 3A
Congenital glaucoma

Criteria Provided
Conflicting Classifications

rs_775055418

2 SubmittersRCV001142195 RCV001142196 RCV003758999

NM_153427.3(PITX2):c.-79G>A

SNV
Germline

Chr4:110636849

Conflicting classifications of pathogenicity

Axenfeld-Rieger syndrome type 1
Ring dermoid of cornea
Cataract
PITX2-Related Eye Abnormalities
Irido-corneo-trabecular dysgenesis
Hypoplasia of the iris
Anterior segment dysgenesis 4

Criteria Provided
Conflicting Classifications

rs_535056127

1 SubmittersRCV001145942 RCV001145940 RCV001145941 RCV001145943 RCV001148714 RCV001148715 RCV001148716

NM_153427.3(PITX2):c.-211G>A

SNV
Germline

Chr4:110636981

Conflicting classifications of pathogenicity

PITX2-Related Eye Abnormalities
Ring dermoid of cornea
Cataract
Anterior segment dysgenesis 4
Axenfeld-Rieger syndrome type 1
Irido-corneo-trabecular dysgenesis
Hypoplasia of the iris

Criteria Provided
Conflicting Classifications

rs_111733107

1 SubmittersRCV001148718 RCV001148720 RCV001148721 RCV001150272 RCV001148717 RCV001148719 RCV001150271

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
Axenfeld-Rieger syndrome type 1
Cataract
Hypoplasia of the iris
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_985015612

2 SubmittersRCV001144257 RCV001144258 RCV001144259 RCV001144260 RCV001150350 RCV001150349 RCV001150348 RCV002292612

NM_153427.2(PITX2):c.-793C>A

SNV
Germline

Chr4:110637563

Conflicting classifications of pathogenicity

Anterior segment dysgenesis 4
Hypoplasia of the iris
Irido-corneo-trabecular dysgenesis
Ring dermoid of cornea
Cataract
Axenfeld-Rieger syndrome type 1
PITX2-Related Eye Abnormalities

Criteria Provided
Conflicting Classifications

rs_145044365

1 SubmittersRCV001150572 RCV001150574 RCV001149074 RCV001149075 RCV001149076 RCV001150571 RCV001150573

NM_153427.2(PITX2):c.-967C>T

SNV
Germline

Chr4:110637737

Conflicting classifications of pathogenicity

Axenfeld-Rieger syndrome type 1
Ring dermoid of cornea
Anterior segment dysgenesis 4
Cataract
Hypoplasia of the iris
Irido-corneo-trabecular dysgenesis
PITX2-Related Eye Abnormalities

Criteria Provided
Conflicting Classifications

rs_368647502

1 SubmittersRCV001146419 RCV001146414 RCV001146415 RCV001146416 RCV001146417 RCV001146418 RCV001149187

NM_153427.2(PITX2):c.-1532C>A

SNV
Germline

Chr4:110642066

Conflicting classifications of pathogenicity

Hypoplasia of the iris
Ring dermoid of cornea
Irido-corneo-trabecular dysgenesis
Axenfeld-Rieger syndrome type 1
PITX2-Related Eye Abnormalities
Anterior segment dysgenesis 4
Cataract

Criteria Provided
Conflicting Classifications

rs_117231596

1 SubmittersRCV001147655 RCV001147652 RCV001147653 RCV001147654 RCV001147656 RCV001150999 RCV001151000

NM_001204398.1(PITX2):c.-11+12T>C

SNV
Germline

Chr4:110641907

Conflicting classifications of pathogenicity

Ring dermoid of cornea
Anterior segment dysgenesis 4
Axenfeld-Rieger syndrome type 1
Irido-corneo-trabecular dysgenesis
Cataract
Hypoplasia of the iris
PITX2-Related Eye Abnormalities

Criteria Provided
Conflicting Classifications

rs_140614517

1 SubmittersRCV001147559 RCV001147564 RCV001147560 RCV001147561 RCV001147562 RCV001147563 RCV001147565

NM_001368894.2(PAX6):c.527G>A (p.Trp176Ter)

SNV
Germline

Chr11:31800729

Pathogenic

Irido-corneo-trabecular dysgenesis
Aniridia 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1953478890

2 SubmittersRCV001212207 RCV001546575

NM_001368894.2(PAX6):c.824G>A (p.Arg275Gln)

SNV
Germline

Chr11:31793786

Likely pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

rs_1950629763

1 SubmittersRCV001237982

NM_001368894.2(PAX6):c.28C>T (p.Gln10Ter)

SNV
Germline

Chr11:31802817

Pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

rs_1954553083

1 SubmittersRCV001239061

NM_001368894.2(PAX6):c.828G>C (p.Arg276Ser)

SNV
Germline

Chr11:31793782

Pathogenic

Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

rs_1950628459

1 SubmittersRCV001269465

NM_001368894.2(PAX6):c.38G>C (p.Gly13Ala)

SNV
Germline

Chr11:31802807

Pathogenic

Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

rs_1954548195

1 SubmittersRCV001269464

NM_001368894.2(PAX6):c.52G>A (p.Gly18Arg)

SNV
Germline

Chr11:31802793

Pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

rs_886044289

1 SubmittersRCV001388985

NM_001368894.2(PAX6):c.807+6G>A

SNV
Germline

Chr11:31794026

Conflicting classifications of pathogenicity

Condition: not provided
Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Conflicting Classifications

rs_375134684

2 SubmittersRCV001550932 RCV002568324

NM_001368894.2(PAX6):c.1090C>T (p.Gln364Ter)

SNV
Germline

Chr11:31790845

Pathogenic

Condition: not provided
Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1237278944

2 SubmittersRCV001658768 RCV003771817

NM_001368894.2(PAX6):c.958+4A>T

SNV
Germline

Chr11:31793648

Conflicting classifications of pathogenicity

Aniridia 1
Irido-corneo-trabecular dysgenesis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_765926181

3 SubmittersRCV002007882 RCV002253994

NM_001368894.2(PAX6):c.709G>T (p.Glu237Ter)

SNV
Germline

Chr11:31794645

Pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

rs_2134655427

1 SubmittersRCV002035231

NM_001368894.2(PAX6):c.225C>A (p.Tyr75Ter)

SNV
Germline

Chr11:31801735

Pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

rs_760490431

1 SubmittersRCV002037739

NM_001368894.2(PAX6):c.269C>T (p.Pro90Leu)

SNV
Germline

Chr11:31801691

Likely pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

rs_2135096558

1 SubmittersRCV001966495

NM_001368894.2(PAX6):c.141G>T (p.Gln47His)

SNV
Germline

Chr11:31802704

Conflicting classifications of pathogenicity

Irido-corneo-trabecular dysgenesis
Aniridia 1
Aniridia 1

Criteria Provided
Conflicting Classifications

rs_2135147324

3 SubmittersRCV002026301 RCV002471220

NM_001368894.2(PAX6):c.425G>C (p.Arg142Pro)

SNV
Germline

Chr11:31800831

Pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

rs_1592531953

1 SubmittersRCV001972713

NM_001368894.2(PAX6):c.1225G>A (p.Gly409Arg)

SNV
Germline

Chr11:31790710

Pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

rs_1131692318

1 SubmittersRCV001975226

NM_001368894.2(PAX6):c.399+1G>C

SNV
Germline

Chr11:31801560

Pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

rs_398123295

1 SubmittersRCV001963138

NM_001368894.2(PAX6):c.400-2A>T

SNV
Germline

Chr11:31800858

Pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

rs_1592532580

1 SubmittersRCV001975078

NM_001368894.2(PAX6):c.399+2T>C

SNV
Germline

Chr11:31801559

Pathogenic

Irido-corneo-trabecular dysgenesis
Aniridia 1

Criteria Provided
Single Submitter

rs_2135086958

1 SubmittersRCV001962494

NM_001368894.2(PAX6):c.269C>A (p.Pro90Gln)

SNV
Germline

Chr11:31801691

Likely pathogenic

Irido-corneo-trabecular dysgenesis
Aniridia 1

Criteria Provided
Single Submitter

rs_2135096558

1 SubmittersRCV001976953

NM_001368894.2(PAX6):c.1074+1G>C

SNV
Germline

Chr11:31793437

Pathogenic

Irido-corneo-trabecular dysgenesis
Aniridia 1
Aniridia 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1950507886

2 SubmittersRCV001946374 RCV003336466

NM_001368894.2(PAX6):c.462C>T (p.Asp154=)

SNV
Germline

Chr11:31800794

Conflicting classifications of pathogenicity

Aniridia 1
Irido-corneo-trabecular dysgenesis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1800427

2 SubmittersRCV002218476 RCV003130686

NM_001368894.2(PAX6):c.260G>A (p.Gly87Asp)

SNV
Germline

Chr11:31801700

Conflicting classifications of pathogenicity

Irido-corneo-trabecular dysgenesis
Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Conflicting Classifications

rs_2135097306

2 SubmittersRCV002245510 RCV003093967

NM_001368894.2(PAX6):c.1166C>A (p.Pro389Gln)

SNV
Germline

Chr11:31790769

Conflicting classifications of pathogenicity

not specified
Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Conflicting Classifications

rs_200015827

2 SubmittersRCV002248079 RCV003093992

NM_001202.6(BMP4):c.1118G>A (p.Cys373Tyr)

SNV
Germline

Chr14:53950141

Likely pathogenic

Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

1 SubmittersRCV002291345

NM_001368894.2(PAX6):c.86T>C (p.Ile29Thr)

SNV
Germline

Chr11:31802759

Conflicting classifications of pathogenicity

Condition: not provided
Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002292107 RCV003097807

NM_001368894.2(PAX6):c.319G>T (p.Glu107Ter)

SNV
Germline

Chr11:31801641

Pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

1 SubmittersRCV003062353

NM_001368894.2(PAX6):c.256G>A (p.Gly86Ser)

SNV
Germline

Chr11:31801704

Pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

1 SubmittersRCV003037378

NM_001368894.2(PAX6):c.199G>C (p.Val67Leu)

SNV
Germline

Chr11:31801761

Likely pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

1 SubmittersRCV003037379

NM_001368894.2(PAX6):c.52G>T (p.Gly18Trp)

SNV
Germline

Chr11:31802793

Likely pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

1 SubmittersRCV003058300

NM_001368894.2(PAX6):c.10+1G>A

SNV
Germline

Chr11:31806401

Pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

1 SubmittersRCV003062355

NM_001368894.2(PAX6):c.4C>T (p.Gln2Ter)

SNV
Germline

Chr11:31806408

Pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

1 SubmittersRCV003062356

NM_001368894.2(PAX6):c.113G>A (p.Arg38Gln)

SNV
Germline

Chr11:31802732

Pathogenic/Likely pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis
Irido-corneo-trabecular dysgenesis
Coloboma, ocular, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003074949 RCV003491223 RCV003883472

NM_001368894.2(PAX6):c.113G>C (p.Arg38Pro)

SNV
Germline

Chr11:31802732

Likely pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

1 SubmittersRCV002632616

NM_001368894.2(PAX6):c.337G>A (p.Ala113Thr)

SNV
Germline

Chr11:31801623

Likely pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

1 SubmittersRCV002806654

NM_001368894.2(PAX6):c.684A>T (p.Arg228Ser)

SNV
Germline

Chr11:31794670

Pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

1 SubmittersRCV002824883

NM_001368894.2(PAX6):c.198T>G (p.Cys66Trp)

SNV
Germline

Chr11:31801762

Likely pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

1 SubmittersRCV002856977

NM_001368894.2(PAX6):c.359T>C (p.Leu120Ser)

SNV
Germline

Chr11:31801601

Pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

1 SubmittersRCV002863142

NM_001368894.2(PAX6):c.1225+5G>T

SNV
Germline

Chr11:31790705

Likely pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

1 SubmittersRCV002871967

NM_001368894.2(PAX6):c.807G>A (p.Gln269=)

SNV
Germline

Chr11:31794032

Likely pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

1 SubmittersRCV003034880

NM_001368894.2(PAX6):c.566-1G>T

SNV
Germline

Chr11:31794789

Pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

1 SubmittersRCV003054437

NM_001368894.2(PAX6):c.745C>A (p.Pro249Thr)

SNV
Germline

Chr11:31794094

Likely pathogenic

Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

1 SubmittersRCV003491359

NM_001845.6(COL4A1):c.388G>T (p.Gly130Trp)

SNV
Germline

Chr13:110211922

Pathogenic/Likely pathogenic

Irido-corneo-trabecular dysgenesis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003389588 RCV003778172

NM_001368894.2(PAX6):c.622G>T (p.Gly208Ter)

SNV
Germline

Chr11:31794732

Pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

1 SubmittersRCV003783563

NM_001368894.2(PAX6):c.496C>T (p.Gln166Ter)

SNV
Germline

Chr11:31800760

Pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

1 SubmittersRCV003783564

NM_001368894.2(PAX6):c.724+1G>A

SNV
Germline

Chr11:31794629

Likely pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

1 SubmittersRCV003803251

NM_001368894.2(PAX6):c.415A>G (p.Arg139Gly)

SNV
Germline

Chr11:31800841

Pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

1 SubmittersRCV003815288

NM_001368894.2(PAX6):c.109G>C (p.Ala37Pro)

SNV
Germline

Chr11:31802736

Likely pathogenic

Aniridia 1
Irido-corneo-trabecular dysgenesis

Criteria Provided
Single Submitter

1 SubmittersRCV003813325