Pax2 Variant Search Result - Rat Genome Database

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564 records found for search term Pax2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8563883	CV28843	single nucleotide variant	PAX2, 1318C-T	Renal coloboma syndrome [RCV000014815]	pathogenic				Human		name
8599572	CV28837	deletion	PAX2, 6-BP DEL	Renal coloboma syndrome [RCV000014809]	pathogenic				Human	1	name
405268167	CV3189611	single nucleotide variant	NM_000278.5(PAX2):c.-4C>T	PAX2-related disorder [RCV004531800]	likely benign	10	100746257	100746257	Human		name , trait
41407953	CV962727	single nucleotide variant	NM_000278.5(PAX2):c.*7C>A	Renal coloboma syndrome [RCV001281256]	pathogenic	10	100827626	100827626	Human	1	name
150406722	CV1194286	single nucleotide variant	NM_000278.5(PAX2):c.*55C>G	not provided [RCV001572107]	uncertain significance	10	100827674	100827674	Human		name
150506769	CV1211005	single nucleotide variant	NM_000278.5(PAX2):c.-94C>T	not provided [RCV001596123]	likely benign	10	100746167	100746167	Human		name
150510874	CV1242531	single nucleotide variant	NM_000278.5(PAX2):c.*99C>T	not provided [RCV001660883]	benign	10	100827718	100827718	Human		name
155804204	CV1866625	single nucleotide variant	NM_000278.5(PAX2):c.*20A>T	not provided [RCV002481185]	uncertain significance	10	100827639	100827639	Human		name
156219659	CV2107244	single nucleotide variant	NM_000278.5(PAX2):c.*52C>G	Renal coloboma syndrome [RCV002918511]	likely benign	10	100827671	100827671	Human	1	name
401921811	CV2800035	single nucleotide variant	NM_000278.5(PAX2):c.*70C>G	PAX2-related disorder [RCV004536768]	uncertain significance	10	100827689	100827689	Human		name , trait
405269028	CV3199134	single nucleotide variant	NM_000278.5(PAX2):c.-37G>T	PAX2-related disorder [RCV004537069]	likely benign	10	100746224	100746224	Human		name , trait
408376250	CV3505717	single nucleotide variant	NM_000278.5(PAX2):c.*30C>A	PAX2-related disorder [RCV004726663]	uncertain significance	10	100827649	100827649	Human		name , trait
150335877	CV1165004	single nucleotide variant	NM_000278.5(PAX2):c.-375C>A	not provided [RCV001530590]	benign	10	100745886	100745886	Human		name
150413353	CV1177245	single nucleotide variant	NM_000278.5(PAX2):c.-555G>T	not provided [RCV001547762]	likely benign	10	100745706	100745706	Human		name
150419971	CV1180629	single nucleotide variant	NM_000278.5(PAX2):c.-679A>G	not provided [RCV001551318]	likely benign	10	100745582	100745582	Human		name
150423351	CV1184309	single nucleotide variant	NM_000278.5(PAX2):c.*223C>A	not provided [RCV001555201]	likely benign	10	100827842	100827842	Human		name
150432909	CV1200886	single nucleotide variant	NM_000278.5(PAX2):c.-414C>T	not provided [RCV001581610]	likely benign	10	100745847	100745847	Human		name
150498421	CV1208918	single nucleotide variant	NM_000278.5(PAX2):c.-556C>T	not provided [RCV001594135]	likely benign	10	100745705	100745705	Human		name
150501488	CV1213370	single nucleotide variant	NM_000278.5(PAX2):c.*198T>C	not provided [RCV001594782]	benign	10	100827817	100827817	Human		name
150431513	CV1235471	single nucleotide variant	NM_000278.5(PAX2):c.-659C>A	not provided [RCV001641841]	benign	10	100745602	100745602	Human		name
150493544	CV1238690	single nucleotide variant	NM_000278.5(PAX2):c.-203A>G	not provided [RCV001655234]	benign	10	100746058	100746058	Human		name
150439070	CV1247670	single nucleotide variant	NM_000278.5(PAX2):c.-160G>T	not provided [RCV001666037]	benign	10	100746101	100746101	Human		name
150458573	CV1278791	single nucleotide variant	NM_000278.5(PAX2):c.*224G>A	not provided [RCV001709408]	benign	10	100827843	100827843	Human		name
152058362	CV1543683	single nucleotide variant	NM_000278.5(PAX2):c.43+9C>A	Renal coloboma syndrome [RCV002128051]	likely benign	10	100746312	100746312	Human	1	name
156120572	CV1969153	single nucleotide variant	NM_000278.5(PAX2):c.44-2A>G	Renal coloboma syndrome [RCV002593113]	likely pathogenic	10	100749744	100749744	Human	1	name
156287444	CV2172357	single nucleotide variant	NM_000278.5(PAX2):c.43+1G>A	Renal coloboma syndrome [RCV003027543]	pathogenic\|likely pathogenic	10	100746304	100746304	Human	1	name
11350611	CV236973	single nucleotide variant	NM_000278.5(PAX2):c.43+5G>T	not provided [RCV000224076]	likely pathogenic	10	100746308	100746308	Human		name
404994699	CV3085302	single nucleotide variant	NM_000278.5(PAX2):c.44-8C>G	Renal coloboma syndrome [RCV003782833]	likely benign	10	100749738	100749738	Human	1	name
404980500	CV3099599	single nucleotide variant	NM_000278.5(PAX2):c.43+3G>A	Renal coloboma syndrome [RCV003791428]	uncertain significance	10	100746306	100746306	Human	1	name
408393833	CV3526235	single nucleotide variant	NM_000278.5(PAX2):c.43+1G>T	Focal segmental glomerulosclerosis 7 [RCV004771667]	likely pathogenic	10	100746304	100746304	Human	1	name
21074821	CV798624	single nucleotide variant	NM_000278.5(PAX2):c.43+5G>A	Focal segmental glomerulosclerosis 7 [RCV000995594]\|PAX2-related disorder [RCV004536030]	likely pathogenic\|uncertain significance	10	100746308	100746308	Human	1	name , trait
8641303	CV100287	single nucleotide variant	NM_000278.5(PAX2):c.43+10G>C	Focal segmental glomerulosclerosis 7 [RCV001787886]\|Renal coloboma syndrome [RCV000608368]\|Renal coloboma syndrome [RCV001514012]\|not provided [RCV001711236]\|not specified [RCV000080359]	benign	10	100746313	100746313	Human	2	name
127280691	CV1076851	single nucleotide variant	NM_000278.5(PAX2):c.496+9G>T	Renal coloboma syndrome [RCV001409959]	likely benign	10	100779592	100779592	Human	1	name
127308264	CV1156325	single nucleotide variant	NM_000278.5(PAX2):c.213-5C>T	Renal coloboma syndrome [RCV001517425]	benign	10	100750689	100750689	Human	1	name
127318818	CV1156326	single nucleotide variant	NM_000278.5(PAX2):c.792+9G>A	Renal coloboma syndrome [RCV001521830]\|not provided [RCV001647315]	benign	10	100806614	100806614	Human	1	name
150508802	CV1214137	single nucleotide variant	NM_000278.5(PAX2):c.44-48G>C	not provided [RCV001596658]	likely benign	10	100749698	100749698	Human		name
150440784	CV1246630	single nucleotide variant	NM_000278.5(PAX2):c.43+43C>A	Focal segmental glomerulosclerosis 7 [RCV001788718]\|Renal coloboma syndrome [RCV001788717]\|not provided [RCV001666283]\|not specified [RCV004594471]	benign	10	100746346	100746346	Human	2	name
151890834	CV1473122	single nucleotide variant	NM_000278.5(PAX2):c.616+4G>A	Renal coloboma syndrome [RCV001888516]	uncertain significance	10	100781369	100781369	Human	1	name
151746593	CV1485220	single nucleotide variant	NM_000278.5(PAX2):c.793-3C>T	Renal coloboma syndrome [RCV002006376]	uncertain significance	10	100809107	100809107	Human	1	name
152038074	CV1529714	single nucleotide variant	NM_000278.5(PAX2):c.212+7G>T	Renal coloboma syndrome [RCV002187832]	likely benign	10	100749921	100749921	Human	1	name
152032352	CV1548985	single nucleotide variant	NM_000278.5(PAX2):c.213-4G>T	Renal coloboma syndrome [RCV002086560]	likely benign	10	100750690	100750690	Human	1	name
152081525	CV1645103	single nucleotide variant	NM_000278.5(PAX2):c.43+13G>T	Renal coloboma syndrome [RCV002149375]	benign	10	100746316	100746316	Human	1	name
156257861	CV1875489	single nucleotide variant	NM_000278.5(PAX2):c.43+20T>C	Renal coloboma syndrome [RCV003060253]	likely benign	10	100746323	100746323	Human	1	name
156409102	CV1877535	single nucleotide variant	NM_000278.5(PAX2):c.410+3G>A	Renal coloboma syndrome [RCV003071529]	uncertain significance	10	100750894	100750894	Human	1	name
155966260	CV1892169	single nucleotide variant	NM_000278.5(PAX2):c.792+2T>C	Renal coloboma syndrome [RCV003074946]	pathogenic	10	100806607	100806607	Human	1	name
156051215	CV2140900	single nucleotide variant	NM_000278.5(PAX2):c.212+1G>T	Focal segmental glomerulosclerosis 7 [RCV004577569]\|Renal coloboma syndrome [RCV002999881]	pathogenic\|likely pathogenic	10	100749915	100749915	Human	2	name
156189032	CV2160728	single nucleotide variant	NM_000278.5(PAX2):c.920-4C>T	Renal coloboma syndrome [RCV003024070]	likely benign\|uncertain significance	10	100824644	100824644	Human	1	name
401920228	CV2795059	single nucleotide variant	NM_000278.5(PAX2):c.793-1G>A	Renal coloboma syndrome [RCV003388805]	likely pathogenic	10	100809109	100809109	Human	1	name
405867297	CV2842780	single nucleotide variant	NM_000278.5(PAX2):c.213-8C>A	Focal segmental glomerulosclerosis 7 [RCV004577583]	likely pathogenic	10	100750686	100750686	Human	1	name
405001479	CV3082243	single nucleotide variant	NM_000278.5(PAX2):c.497-9C>G	Renal coloboma syndrome [RCV003783500]	uncertain significance	10	100781237	100781237	Human	1	name
405035927	CV3093197	single nucleotide variant	NM_000278.5(PAX2):c.496+7G>A	Renal coloboma syndrome [RCV003786548]	likely benign	10	100779590	100779590	Human	1	name
405033227	CV3098715	single nucleotide variant	NM_000278.5(PAX2):c.212+5G>A	Renal coloboma syndrome [RCV003806841]	uncertain significance	10	100749919	100749919	Human	1	name
405070086	CV3099754	single nucleotide variant	NM_000278.5(PAX2):c.43+10G>A	Renal coloboma syndrome [RCV003799468]	likely benign	10	100746313	100746313	Human	1	name
405070102	CV3099755	single nucleotide variant	NM_000278.5(PAX2):c.43+12C>G	Renal coloboma syndrome [RCV003799469]	likely benign	10	100746315	100746315	Human	1	name
405039635	CV3103300	single nucleotide variant	NM_000278.5(PAX2):c.43+12C>A	Renal coloboma syndrome [RCV003797177]	likely benign	10	100746315	100746315	Human	1	name
405169471	CV3104233	single nucleotide variant	NM_000278.5(PAX2):c.496+8G>C	Renal coloboma syndrome [RCV003802910]	likely benign	10	100779591	100779591	Human	1	name
408365479	CV3499953	single nucleotide variant	NM_000278.5(PAX2):c.410+1G>A	not provided [RCV004721996]	pathogenic	10	100750892	100750892	Human		name
597834572	CV3735241	single nucleotide variant	NM_000278.5(PAX2):c.617-1G>T	Congenital anomalies of kidney and urinary tract 1 [RCV005054974]	likely pathogenic	10	100806429	100806429	Human	1	name
597857761	CV3864711	single nucleotide variant	NM_000278.5(PAX2):c.919+5G>C	Renal coloboma syndrome [RCV005213767]	uncertain significance	10	100809241	100809241	Human	1	name
597882170	CV3865825	single nucleotide variant	NM_000278.5(PAX2):c.792+5G>T	Renal coloboma syndrome [RCV005217490]	uncertain significance	10	100806610	100806610	Human	1	name
597856593	CV3870789	single nucleotide variant	NM_000278.5(PAX2):c.213-2A>G	Renal coloboma syndrome [RCV005228992]	pathogenic	10	100750692	100750692	Human	1	name
597900762	CV3876557	deletion	NM_000278.5(PAX2):c.213-8del	Renal coloboma syndrome [RCV005220255]	likely benign	10	100750684	100750684	Human	1	name
597841728	CV3878129	deletion	NM_000278.5(PAX2):c.44-15del	Renal coloboma syndrome [RCV005226616]	likely benign	10	100749731	100749731	Human	1	name
616938805	CV4015869	single nucleotide variant	NM_000278.5(PAX2):c.497-1G>T	Renal coloboma syndrome [RCV005414421]	likely pathogenic	10	100781245	100781245	Human	1	name
15144932	CV695464	single nucleotide variant	NM_000278.5(PAX2):c.213-8C>T	PAX2-related disorder [RCV004541770]\|Renal coloboma syndrome [RCV000878299]	benign\|likely benign	10	100750686	100750686	Human	2	name , trait
26888335	CV852537	single nucleotide variant	NM_000278.5(PAX2):c.616+6G>C	Renal coloboma syndrome [RCV001067057]\|not provided [RCV001759839]	uncertain significance	10	100781371	100781371	Human	1	name
41407956	CV962833	single nucleotide variant	NM_000278.5(PAX2):c.497-1G>A	Renal coloboma syndrome [RCV001281259]	pathogenic	10	100781245	100781245	Human	1	name
127239352	CV1076850	single nucleotide variant	NM_000278.5(PAX2):c.410+16G>A	Renal coloboma syndrome [RCV001397529]	likely benign	10	100750907	100750907	Human	1	name
127318403	CV1140906	single nucleotide variant	NM_000278.5(PAX2):c.411-10G>A	Renal coloboma syndrome [RCV001503675]	likely benign	10	100779488	100779488	Human	1	name
127318342	CV1156327	single nucleotide variant	NM_000278.5(PAX2):c.920-12G>A	Renal coloboma syndrome [RCV001521601]	benign	10	100824636	100824636	Human	1	name
150417732	CV1180630	single nucleotide variant	NM_000278.5(PAX2):c.496+88G>A	not provided [RCV001550273]	likely benign	10	100779671	100779671	Human		name
150428685	CV1187536	single nucleotide variant	NM_000278.5(PAX2):c.44-280C>T	not provided [RCV001562586]	likely benign	10	100749466	100749466	Human		name
150496486	CV1206097	single nucleotide variant	NM_000278.5(PAX2):c.44-216C>A	not provided [RCV001593779]	likely benign	10	100749530	100749530	Human		name
150480295	CV1207989	single nucleotide variant	NM_000278.5(PAX2):c.617-96T>G	not provided [RCV001590266]	likely benign	10	100806334	100806334	Human		name
150432508	CV1235499	single nucleotide variant	NM_000278.5(PAX2):c.496+89C>G	not provided [RCV001642190]\|not specified [RCV004594446]	benign	10	100779672	100779672	Human		name
150456285	CV1249594	single nucleotide variant	NM_000278.5(PAX2):c.793-41G>A	not provided [RCV001668809]	benign	10	100809069	100809069	Human		name
150477256	CV1262476	single nucleotide variant	NM_000278.5(PAX2):c.44-228A>C	not provided [RCV001685289]	benign	10	100749518	100749518	Human		name
150444157	CV1266490	single nucleotide variant	NM_000278.5(PAX2):c.44-180T>C	not provided [RCV001690926]	benign	10	100749566	100749566	Human		name
150530178	CV1291462	single nucleotide variant	NM_000278.5(PAX2):c.792+42G>A	not provided [RCV001732778]	likely benign	10	100806647	100806647	Human		name
151828039	CV1435609	single nucleotide variant	NM_000278.5(PAX2):c.410+14C>G	Renal coloboma syndrome [RCV001955401]	likely benign	10	100750905	100750905	Human	1	name
152056693	CV1523078	single nucleotide variant	NM_000278.5(PAX2):c.213-17C>T	Renal coloboma syndrome [RCV002167527]	likely benign	10	100750677	100750677	Human	1	name
152037758	CV1524962	single nucleotide variant	NM_000278.5(PAX2):c.616+20T>C	Renal coloboma syndrome [RCV002165229]	likely benign	10	100781385	100781385	Human	1	name
152066135	CV1565075	single nucleotide variant	NM_000278.5(PAX2):c.411-11C>T	Renal coloboma syndrome [RCV002090948]	likely benign	10	100779487	100779487	Human	1	name
152092687	CV1567826	single nucleotide variant	NM_000278.5(PAX2):c.793-12C>G	Renal coloboma syndrome [RCV002212947]	likely benign	10	100809098	100809098	Human	1	name
152044856	CV1584467	single nucleotide variant	NM_000278.5(PAX2):c.410+19T>C	Renal coloboma syndrome [RCV002071475]	likely benign	10	100750910	100750910	Human	1	name
152112618	CV1586364	single nucleotide variant	NM_000278.5(PAX2):c.792+19G>A	Renal coloboma syndrome [RCV002196980]	likely benign	10	100806624	100806624	Human	1	name
152066288	CV1601617	single nucleotide variant	NM_000278.5(PAX2):c.616+14A>C	Renal coloboma syndrome [RCV002168704]	likely benign	10	100781379	100781379	Human	1	name
152095321	CV1603948	single nucleotide variant	NM_000278.5(PAX2):c.1022-4G>A	Renal coloboma syndrome [RCV002213280]	likely benign	10	100827005	100827005	Human	1	name
152054288	CV1609974	single nucleotide variant	NM_000278.5(PAX2):c.616+14A>G	Renal coloboma syndrome [RCV002167243]	likely benign	10	100781379	100781379	Human	1	name
152039407	CV1617132	single nucleotide variant	NM_000278.5(PAX2):c.212+12G>A	Renal coloboma syndrome [RCV002087732]	benign\|likely benign	10	100749926	100749926	Human	1	name
156075775	CV1890213	single nucleotide variant	NM_000278.5(PAX2):c.213-16G>A	Renal coloboma syndrome [RCV003079698]	likely benign	10	100750678	100750678	Human	1	name
156033458	CV2142285	single nucleotide variant	NM_000278.5(PAX2):c.212+18G>A	Renal coloboma syndrome [RCV002976704]	likely benign	10	100749932	100749932	Human	1	name
155941851	CV2158174	single nucleotide variant	NM_000278.5(PAX2):c.792+16T>C	Renal coloboma syndrome [RCV003014319]	likely benign	10	100806621	100806621	Human	1	name
156080845	CV2158466	single nucleotide variant	NM_000278.5(PAX2):c.213-13T>C	Renal coloboma syndrome [RCV003037876]	likely benign	10	100750681	100750681	Human	1	name
156124726	CV2185520	deletion	NM_000278.5(PAX2):c.793-14del	Renal coloboma syndrome [RCV003055604]	likely benign\|uncertain significance	10	100809096	100809096	Human	1	name
11547629	CV253661	single nucleotide variant	NM_000278.5(PAX2):c.213-20C>T	Renal coloboma syndrome [RCV002058146]\|not specified [RCV000248007]	likely benign	10	100750674	100750674	Human	1	name
402513821	CV3087509	single nucleotide variant	NM_000278.5(PAX2):c.496+15G>C	Renal coloboma syndrome [RCV003789860]	likely benign	10	100779598	100779598	Human	1	name
405172936	CV3104706	single nucleotide variant	NM_000278.5(PAX2):c.213-11T>C	Renal coloboma syndrome [RCV003803204]	likely benign	10	100750683	100750683	Human	1	name
405079914	CV3107280	single nucleotide variant	NM_000278.5(PAX2):c.919+20G>T	Renal coloboma syndrome [RCV003800150]	likely benign	10	100809256	100809256	Human	1	name
405281803	CV3224399	single nucleotide variant	NM_000278.5(PAX2):c.1109-2A>G	Renal coloboma syndrome [RCV003988782]	likely pathogenic	10	100827541	100827541	Human	1	name
405746172	CV3226368	single nucleotide variant	NM_000278.5(PAX2):c.43+934G>C	Renal coloboma syndrome [RCV003991359]	uncertain significance	10	100747237	100747237	Human	1	name
597908161	CV3870430	single nucleotide variant	NM_000278.5(PAX2):c.411-11C>A	Renal coloboma syndrome [RCV005221481]	uncertain significance	10	100779487	100779487	Human	1	name
597889757	CV3871239	single nucleotide variant	NM_000278.5(PAX2):c.496+13A>C	Renal coloboma syndrome [RCV005218571]	likely benign	10	100779596	100779596	Human	1	name
597853786	CV3873821	single nucleotide variant	NM_000278.5(PAX2):c.410+15C>T	Renal coloboma syndrome [RCV005228606]	likely benign	10	100750906	100750906	Human	1	name
597836632	CV3874483	single nucleotide variant	NM_000278.5(PAX2):c.919+10C>A	Renal coloboma syndrome [RCV005210404]	likely benign	10	100809246	100809246	Human	1	name
597839696	CV3877559	single nucleotide variant	NM_000278.5(PAX2):c.213-19G>A	Renal coloboma syndrome [RCV005226213]	likely benign	10	100750675	100750675	Human	1	name
13536374	CV502724	single nucleotide variant	NM_000278.5(PAX2):c.616+12G>A	not specified [RCV000608910]	likely benign	10	100781377	100781377	Human		name
150421818	CV1180631	single nucleotide variant	NM_000278.5(PAX2):c.616+272C>T	not provided [RCV001552189]	likely benign	10	100781637	100781637	Human		name
150426603	CV1187537	single nucleotide variant	NM_000278.5(PAX2):c.920-211G>A	not provided [RCV001559787]	likely benign	10	100824437	100824437	Human		name
150413175	CV1191016	single nucleotide variant	NM_000278.5(PAX2):c.1109-82T>A	not provided [RCV001567122]	likely benign	10	100827461	100827461	Human		name
150447240	CV1201861	single nucleotide variant	NM_000278.5(PAX2):c.1108+37G>A	not provided [RCV001584729]	likely benign	10	100827132	100827132	Human		name
150450178	CV1205240	single nucleotide variant	NM_000278.5(PAX2):c.1022-33G>A	not provided [RCV001585140]	likely benign	10	100826976	100826976	Human		name
150435358	CV1206976	single nucleotide variant	NM_000278.5(PAX2):c.793-282G>A	not provided [RCV001582325]	likely benign	10	100808828	100808828	Human		name
150514558	CV1212053	single nucleotide variant	NM_000278.5(PAX2):c.919+248C>T	not provided [RCV001599122]	likely benign	10	100809484	100809484	Human		name
150501065	CV1213278	single nucleotide variant	NM_000278.5(PAX2):c.212+300C>T	not provided [RCV001594690]	benign	10	100750214	100750214	Human		name
150508441	CV1214045	single nucleotide variant	NM_000278.5(PAX2):c.410+204G>T	not provided [RCV001596566]	likely benign	10	100751095	100751095	Human		name
150479241	CV1221472	single nucleotide variant	NM_000278.5(PAX2):c.1021+91G>A	not provided [RCV001616551]\|not specified [RCV004594396]	benign	10	100824840	100824840	Human		name
150435101	CV1221559	single nucleotide variant	NM_000278.5(PAX2):c.792+229T>C	not provided [RCV001609247]	benign	10	100806834	100806834	Human		name
150493368	CV1225651	single nucleotide variant	NM_000278.5(PAX2):c.1022-43T>C	not provided [RCV001619167]	benign	10	100826966	100826966	Human		name
150508103	CV1229553	single nucleotide variant	NM_000278.5(PAX2):c.792+152T>C	not provided [RCV001636131]	benign	10	100806757	100806757	Human		name
150507769	CV1244649	single nucleotide variant	NM_000278.5(PAX2):c.792+169G>A	not provided [RCV001658898]	likely benign	10	100806774	100806774	Human		name
150473941	CV1252488	single nucleotide variant	NM_000278.5(PAX2):c.616+326G>A	not provided [RCV001671691]	benign	10	100781691	100781691	Human		name
150504116	CV1257932	single nucleotide variant	NM_000278.5(PAX2):c.213-157G>A	not provided [RCV001677620]	benign	10	100750537	100750537	Human		name
150494295	CV1267325	deletion	NM_000278.5(PAX2):c.497-232del	not provided [RCV001688353]	benign	10	100781012	100781012	Human		name
150496910	CV1271639	single nucleotide variant	NM_000278.5(PAX2):c.792+162T>A	not provided [RCV001688940]	benign	10	100806767	100806767	Human		name
152041075	CV1555837	single nucleotide variant	NM_000278.5(PAX2):c.1022-19C>T	Renal coloboma syndrome [RCV002188270]	likely benign	10	100826990	100826990	Human	1	name
152027518	CV1628820	single nucleotide variant	NM_000278.5(PAX2):c.1022-18T>A	Renal coloboma syndrome [RCV002104919]	likely benign	10	100826991	100826991	Human	1	name
405277888	CV3212398	single nucleotide variant	NM_001304569.2(PAX2):c.25+6A>T	PAX2-related disorder [RCV004544055]	likely benign	10	100735739	100735739	Human		name , trait
126768724	CV1008823	single nucleotide variant	NM_000278.5(PAX2):c.1021+235T>C	Renal coloboma syndrome [RCV001321528]	uncertain significance	10	100824984	100824984	Human	1	name
127317809	CV1140908	single nucleotide variant	NM_000278.5(PAX2):c.1021+137C>T	Renal coloboma syndrome [RCV001503492]	likely benign	10	100824886	100824886	Human	1	name
127291758	CV1156329	single nucleotide variant	NM_000278.5(PAX2):c.1021+141C>A	Renal coloboma syndrome [RCV001510541]\|not specified [RCV001796532]	benign	10	100824890	100824890	Human	1	name
127317689	CV1156330	single nucleotide variant	NM_000278.5(PAX2):c.1021+193G>A	PAX2-related disorder [RCV004533945]\|Renal coloboma syndrome [RCV001521256]	benign\|likely benign	10	100824942	100824942	Human	2	name , trait
150422680	CV1180632	single nucleotide variant	NM_000278.5(PAX2):c.616+5275G>T	not provided [RCV001552965]	likely benign	10	100786640	100786640	Human		name
150410257	CV1191015	single nucleotide variant	NM_000278.5(PAX2):c.1109-138C>T	not provided [RCV001565955]	likely benign	10	100827405	100827405	Human		name
150469550	CV1219093	single nucleotide variant	NM_000278.5(PAX2):c.616+5337C>T	not provided [RCV001614845]	benign	10	100786702	100786702	Human		name
150434456	CV1243955	single nucleotide variant	NM_000278.5(PAX2):c.1022-116G>C	not provided [RCV001665162]	likely benign	10	100826893	100826893	Human		name
8651463	CV128038	single nucleotide variant	NM_003990.3(PAX2):c.862-1116C>A	Lung cancer [RCV000108525]	uncertain significance	10	100807994	100807994	Human		name
151232573	CV1317488	single nucleotide variant	NM_001304569.2(PAX2):c.25+31A>G	Focal segmental glomerulosclerosis 7 [RCV001788867]\|Renal coloboma syndrome [RCV001788866]\|not provided [RCV004718965]\|not specified [RCV004594590]	benign	10	100735764	100735764	Human	2	name
151722095	CV1361490	single nucleotide variant	NM_000278.5(PAX2):c.1021+218C>T	Renal coloboma syndrome [RCV001945063]	uncertain significance	10	100824967	100824967	Human	1	name
151826422	CV1394046	single nucleotide variant	NM_000278.5(PAX2):c.1021+183T>C	Renal coloboma syndrome [RCV002030375]	uncertain significance	10	100824932	100824932	Human	1	name
151794942	CV1437457	single nucleotide variant	NM_000278.5(PAX2):c.1021+238A>G	Renal coloboma syndrome [RCV001876853]	uncertain significance	10	100824987	100824987	Human	1	name
152106957	CV1560176	single nucleotide variant	NM_000278.5(PAX2):c.1021+181C>G	Renal coloboma syndrome [RCV002133979]	likely benign	10	100824930	100824930	Human	1	name
152075339	CV1601306	single nucleotide variant	NM_000278.5(PAX2):c.1021+135G>C	Renal coloboma syndrome [RCV002112023]	likely benign	10	100824884	100824884	Human	1	name
9589257	CV166072	microsatellite	NM_000278.3(PAX2):c.44_46delCAG	not provided [RCV000144376]	not provided	10	100749743	100749745	Human		name
9684261	CV167527	single nucleotide variant	NM_000278.5(PAX2):c.1021+233A>T	Renal coloboma syndrome [RCV000144974]\|Renal coloboma syndrome [RCV001849973]	uncertain significance\|not provided	10	100824982	100824982	Human	1	name
156298754	CV1890699	single nucleotide variant	NM_000278.5(PAX2):c.1021+243A>G	Renal coloboma syndrome [RCV003087817]	likely benign\|uncertain significance	10	100824992	100824992	Human	1	name
156297684	CV1924215	microsatellite	NM_000278.5(PAX2):c.793-15TC[3]	Renal coloboma syndrome [RCV002629091]	likely benign\|uncertain significance	10	100809095	100809096	Human		name
155966513	CV2048438	single nucleotide variant	NM_000278.5(PAX2):c.1021+143C>G	Renal coloboma syndrome [RCV002776517]	likely benign\|uncertain significance	10	100824892	100824892	Human	1	name
156087623	CV2060641	single nucleotide variant	NM_000278.5(PAX2):c.1021+247C>T	Renal coloboma syndrome [RCV002824067]	likely benign	10	100824996	100824996	Human	1	name
156123676	CV2089896	single nucleotide variant	NM_000278.5(PAX2):c.1021+192C>G	Renal coloboma syndrome [RCV002889663]	uncertain significance	10	100824941	100824941	Human	1	name
156149060	CV2091002	single nucleotide variant	NM_000278.5(PAX2):c.1021+192C>T	Renal coloboma syndrome [RCV002890590]	uncertain significance	10	100824941	100824941	Human	1	name
156321195	CV2123804	single nucleotide variant	NM_000278.5(PAX2):c.1021+196G>A	Renal coloboma syndrome [RCV002963211]	likely benign	10	100824945	100824945	Human	1	name
156036769	CV2150255	single nucleotide variant	NM_000278.5(PAX2):c.1021+236G>C	Renal coloboma syndrome [RCV003018903]	uncertain significance	10	100824985	100824985	Human	1	name
156124241	CV2185491	single nucleotide variant	NM_000278.5(PAX2):c.1021+210A>G	Renal coloboma syndrome [RCV003055587]	uncertain significance	10	100824959	100824959	Human	1	name
401964370	CV2843668	single nucleotide variant	NM_000278.5(PAX2):c.1021+167C>T	Renal coloboma syndrome [RCV003480011]\|Renal coloboma syndrome [RCV003779198]	benign\|uncertain significance	10	100824916	100824916	Human	1	name
405273987	CV3198348	single nucleotide variant	NM_000278.5(PAX2):c.616+5568T>C	PAX2-related disorder [RCV004534602]	likely benign	10	100786933	100786933	Human		name , trait
405852327	CV3395920	single nucleotide variant	NM_000278.5(PAX2):c.616+5649A>C	Focal segmental glomerulosclerosis 7 [RCV004556939]	uncertain significance	10	100787014	100787014	Human	1	name
596932537	CV3539159	single nucleotide variant	NM_000278.5(PAX2):c.616+5578T>C	not provided [RCV004793285]	uncertain significance	10	100786943	100786943	Human		name
597853578	CV3869779	single nucleotide variant	NM_000278.5(PAX2):c.1021+183T>G	Renal coloboma syndrome [RCV005213064]	uncertain significance	10	100824932	100824932	Human	1	name
12894660	CV407800	single nucleotide variant	NM_000278.5(PAX2):c.616+5648T>C	Renal coloboma syndrome [RCV002489149]\|not provided [RCV000483686]	pathogenic\|likely pathogenic	10	100787013	100787013	Human	1	name
26909508	CV856661	deletion	NM_000278.5(PAX2):c.1021+232del	Retinal dystrophy [RCV001073551]	uncertain significance	10	100824979	100824979	Human	2	name
150455678	CV1268968	single nucleotide variant	NM_001304569.2(PAX2):c.26-803A>T	not provided [RCV001692792]	benign	10	100745390	100745390	Human		name
152983184	CV1678016	deletion	NM_000278.5(PAX2):c.756_792+4del	Renal coloboma syndrome [RCV002250171]	pathogenic	10	100806566	100806606	Human	1	name
150438244	CV1221134	microsatellite	NM_000278.5(PAX2):c.920-294AC[25]	not provided [RCV001609828]	benign	10	100824353	100824354	Human		name
150517046	CV1227783	microsatellite	NM_000278.5(PAX2):c.920-294AC[24]	not provided [RCV001639586]	benign	10	100824353	100824354	Human		name
150517178	CV1227916	microsatellite	NM_000278.5(PAX2):c.920-294AC[18]	not provided [RCV001639720]	benign	10	100824354	100824359	Human		name
150514319	CV1228161	microsatellite	NM_000278.5(PAX2):c.920-294AC[26]	not provided [RCV001638439]	benign	10	100824353	100824354	Human		name
150467305	CV1277548	microsatellite	NM_000278.5(PAX2):c.920-294AC[23]	not provided [RCV001710843]	benign	10	100824353	100824354	Human		name
150489532	CV1279074	microsatellite	NM_000278.5(PAX2):c.920-294AC[22]	not provided [RCV001716311]	benign	10	100824353	100824354	Human		name
38459268	CV918313	duplication	NM_000278.5(PAX2):c.44-12_44-8dup	Renal coloboma syndrome [RCV002560205]\|not specified [RCV001195632]	likely benign\|uncertain significance	10	100749733	100749734	Human	1	name
127235175	CV1098486	single nucleotide variant	NM_000278.5(PAX2):c.48G>A (p.Gly16=)	Renal coloboma syndrome [RCV001433047]	likely benign	10	100749750	100749750	Human	1	name
127265397	CV1098487	single nucleotide variant	NM_000278.5(PAX2):c.72G>A (p.Gly24=)	Renal coloboma syndrome [RCV001429055]	likely benign	10	100749774	100749774	Human	1	name
151807797	CV1474685	duplication	NM_000278.5(PAX2):c.411-14_411-10dup	Renal coloboma syndrome [RCV001932901]	uncertain significance	10	100779482	100779483	Human	1	name
151770457	CV1483157	single nucleotide variant	NM_000278.5(PAX2):c.8T>A (p.Met3Lys)	Renal coloboma syndrome [RCV001914931]	uncertain significance	10	100746268	100746268	Human	1	name
152108279	CV1550770	single nucleotide variant	NM_000278.5(PAX2):c.96C>G (p.Pro32=)	PAX2-related disorder [RCV004531425]\|Renal coloboma syndrome [RCV002152701]	likely benign	10	100749798	100749798	Human	2	name , trait
152106597	CV1572738	single nucleotide variant	NM_000278.5(PAX2):c.75G>T (p.Gly25=)	Renal coloboma syndrome [RCV002152484]	likely benign	10	100749777	100749777	Human	1	name
156052549	CV2101810	single nucleotide variant	NM_000278.5(PAX2):c.8T>C (p.Met3Thr)	Renal coloboma syndrome [RCV002886213]	uncertain significance	10	100746268	100746268	Human	1	name
156314526	CV2143982	single nucleotide variant	NM_000278.5(PAX2):c.54G>T (p.Gly18=)	Renal coloboma syndrome [RCV003011305]	likely benign	10	100749756	100749756	Human	1	name
405022354	CV3081823	single nucleotide variant	NM_000278.5(PAX2):c.69C>T (p.Leu23=)	Renal coloboma syndrome [RCV003785429]	likely benign	10	100749771	100749771	Human	1	name
402507937	CV3090675	single nucleotide variant	NM_000278.5(PAX2):c.36G>C (p.Ala12=)	Renal coloboma syndrome [RCV003789291]	likely benign	10	100746296	100746296	Human	1	name
597855080	CV3762639	single nucleotide variant	NM_000278.5(PAX2):c.2T>A (p.Met1Lys)	not specified [RCV005088557]	uncertain significance	10	100746262	100746262	Human		name
597856899	CV3877727	single nucleotide variant	NM_000278.5(PAX2):c.7A>G (p.Met3Val)	Renal coloboma syndrome [RCV005229036]	uncertain significance	10	100746267	100746267	Human	1	name
13838640	CV590287	single nucleotide variant	NM_000278.5(PAX2):c.1A>G (p.Met1Val)	Focal segmental glomerulosclerosis 7 [RCV000735785]	uncertain significance	10	100746261	100746261	Human	1	name
127334940	CV1120075	single nucleotide variant	NM_000278.5(PAX2):c.159C>T (p.Asp53=)	Renal coloboma syndrome [RCV001473934]	likely benign	10	100749861	100749861	Human	1	name
150542160	CV1302511	single nucleotide variant	NM_000278.5(PAX2):c.26C>G (p.Pro9Arg)	not provided [RCV001761201]	uncertain significance	10	100746286	100746286	Human		name
150546353	CV1313700	indel	NM_000278.5(PAX2):c.34_43+26delinsTGT	not provided [RCV001784798]	pathogenic	10	100746294	100746329	Human		name
151742509	CV1390883	single nucleotide variant	NM_000278.5(PAX2):c.165C>T (p.Ser55=)	Renal coloboma syndrome [RCV001985372]	uncertain significance	10	100749867	100749867	Human	1	name
151820981	CV1510672	single nucleotide variant	NM_000278.5(PAX2):c.120C>T (p.Arg40=)	Renal coloboma syndrome [RCV001934141]	likely benign\|uncertain significance	10	100749822	100749822	Human	1	name
152048061	CV1519853	single nucleotide variant	NM_000278.5(PAX2):c.123C>T (p.Ile41=)	Renal coloboma syndrome [RCV002145315]	likely benign	10	100749825	100749825	Human	1	name
152171430	CV1544164	single nucleotide variant	NM_000278.5(PAX2):c.174G>A (p.Leu58=)	Renal coloboma syndrome [RCV002162110]	likely benign	10	100749876	100749876	Human	1	name
152088689	CV1562966	single nucleotide variant	NM_000278.5(PAX2):c.276G>A (p.Thr92=)	Renal coloboma syndrome [RCV002113771]	likely benign	10	100750757	100750757	Human	1	name
152120461	CV1576202	single nucleotide variant	NM_000278.5(PAX2):c.219C>T (p.Tyr73=)	PAX2-related disorder [RCV004543731]\|Renal coloboma syndrome [RCV002197979]	likely benign	10	100750700	100750700	Human	2	name , trait
152168935	CV1598340	single nucleotide variant	NM_000278.5(PAX2):c.249C>T (p.Ile83=)	Renal coloboma syndrome [RCV002142619]	likely benign	10	100750730	100750730	Human	1	name
152101176	CV1606833	single nucleotide variant	NM_000278.5(PAX2):c.285G>A (p.Val95=)	Renal coloboma syndrome [RCV002195569]	likely benign	10	100750766	100750766	Human	1	name
152137029	CV1652236	single nucleotide variant	NM_000278.5(PAX2):c.186C>T (p.His62=)	Renal coloboma syndrome [RCV002083646]	likely benign	10	100749888	100749888	Human	1	name
9589258	CV166073	deletion	NM_000278.5(PAX2):c.59del (p.Val20fs)	not provided [RCV000144377]	not provided	10	100749761	100749761	Human		name
9589260	CV166075	deletion	NM_000278.5(PAX2):c.68del (p.Leu23fs)	not provided [RCV000144379]	not provided	10	100749770	100749770	Human		name
9589513	CV166077	duplication	NM_000278.5(PAX2):c.76dup (p.Val26fs)	Congenital anomaly of kidney and urinary tract [RCV001328165]\|Focal segmental glomerulosclerosis 7 [RCV000587907]\|Focal segmental glomerulosclerosis [RCV001849315]\|Glomerular sclerosis [RCV004798785]\|PAX2-related disorder [RCV004532628]\|Renal coloboma syndrome [ ... (more) RCV000014806]\|Renal coloboma syndrome [RCV001068182]\|not provided [RCV000144381]	pathogenic\|likely pathogenic\|not provided	10	100749771	100749772	Human	10	name , trait
156328308	CV1887491	single nucleotide variant	NM_000278.5(PAX2):c.273G>A (p.Ala91=)	Renal coloboma syndrome [RCV003089633]	likely benign\|uncertain significance	10	100750754	100750754	Human	1	name
156386572	CV1890260	single nucleotide variant	NM_000278.5(PAX2):c.102C>T (p.Pro34=)	Renal coloboma syndrome [RCV003093737]	likely benign	10	100749804	100749804	Human	1	name
156032893	CV1932476	single nucleotide variant	NM_000278.5(PAX2):c.273G>C (p.Ala91=)	Renal coloboma syndrome [RCV002637244]	likely benign	10	100750754	100750754	Human	1	name
155949752	CV1935989	deletion	NM_000278.5(PAX2):c.69del (p.Val26fs)	Renal coloboma syndrome [RCV005032292]\|not provided [RCV002511641]	pathogenic	10	100749771	100749771	Human	1	name
156245690	CV2086197	deletion	NM_000278.5(PAX2):c.97del (p.Leu33fs)	Renal coloboma syndrome [RCV002876762]	pathogenic	10	100749796	100749796	Human	1	name
156052127	CV2091481	single nucleotide variant	NM_000278.5(PAX2):c.225C>T (p.Thr75=)	PAX2-related disorder [RCV004545416]\|Renal coloboma syndrome [RCV002886199]	likely benign	10	100750706	100750706	Human	2	name , trait
156112982	CV2093034	single nucleotide variant	NM_000278.5(PAX2):c.148C>A (p.Arg50=)	Renal coloboma syndrome [RCV002913857]	likely benign	10	100749850	100749850	Human	1	name
8599574	CV28840	deletion	NM_000278.5(PAX2):c.76del (p.Val26fs)	PAX2-related disorder [RCV003389233]\|Renal coloboma syndrome [RCV000014812]\|Renal coloboma syndrome [RCV002504787]	pathogenic	10	100749772	100749772	Human	2	name , trait
402510443	CV3087061	single nucleotide variant	NM_000278.5(PAX2):c.234C>A (p.Ile78=)	Renal coloboma syndrome [RCV003789571]	likely benign	10	100750715	100750715	Human	1	name
404989894	CV3094612	single nucleotide variant	NM_000278.5(PAX2):c.177G>A (p.Arg59=)	Renal coloboma syndrome [RCV003792623]	likely benign	10	100749879	100749879	Human	1	name
405045215	CV3103903	single nucleotide variant	NM_000278.5(PAX2):c.204C>T (p.Ile68=)	Renal coloboma syndrome [RCV003797621]	likely benign	10	100749906	100749906	Human	1	name
405037744	CV3106323	single nucleotide variant	NM_000278.5(PAX2):c.144T>C (p.Gly48=)	Renal coloboma syndrome [RCV003797014]	likely benign	10	100749846	100749846	Human	1	name
405060574	CV3108407	single nucleotide variant	NM_000278.5(PAX2):c.168G>A (p.Arg56=)	Renal coloboma syndrome [RCV003808985]	likely benign	10	100749870	100749870	Human	1	name
405264918	CV3201401	single nucleotide variant	NM_000278.5(PAX2):c.195C>G (p.Val65=)	PAX2-related disorder [RCV004534490]\|Renal coloboma syndrome [RCV005038627]	likely benign\|uncertain significance	10	100749897	100749897	Human	2	name , trait
405283111	CV3218357	single nucleotide variant	NM_000278.5(PAX2):c.114G>A (p.Arg38=)	PAX2-related disorder [RCV004545512]	likely benign	10	100749816	100749816	Human		name , trait
596926583	CV3542328	single nucleotide variant	NM_000278.5(PAX2):c.210C>T (p.Gly70=)	Renal coloboma syndrome [RCV004796543]	uncertain significance	10	100749912	100749912	Human	1	name
597652399	CV3724537	single nucleotide variant	NM_000278.5(PAX2):c.111G>A (p.Val37=)	Renal coloboma syndrome [RCV005026989]	uncertain significance	10	100749813	100749813	Human	1	name
597923544	CV3867429	single nucleotide variant	NM_000278.5(PAX2):c.13T>A (p.Cys5Ser)	Renal coloboma syndrome [RCV005223855]	uncertain significance	10	100746273	100746273	Human	1	name
597906906	CV3870253	single nucleotide variant	NM_000278.5(PAX2):c.174G>T (p.Leu58=)	Renal coloboma syndrome [RCV005221304]	likely benign	10	100749876	100749876	Human	1	name
616938806	CV4015868	deletion	NM_000278.5(PAX2):c.93del (p.Leu33fs)	Renal coloboma syndrome [RCV005414420]	likely pathogenic	10	100749794	100749794	Human	1	name
15175956	CV712117	single nucleotide variant	NM_000278.5(PAX2):c.240G>A (p.Pro80=)	Renal coloboma syndrome [RCV002066430]	likely benign	10	100750721	100750721	Human	1	name
15123067	CV737289	single nucleotide variant	NM_000278.5(PAX2):c.129G>A (p.Glu43=)	not provided [RCV000896347]	likely benign	10	100749831	100749831	Human		name
8641302	CV100286	single nucleotide variant	NM_000278.5(PAX2):c.360C>T (p.Ala120=)	Renal coloboma syndrome [RCV001085904]\|not provided [RCV000080358]\|not specified [RCV001699201]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	100750841	100750841	Human	1	name
126912116	CV1046361	single nucleotide variant	NM_000278.5(PAX2):c.71G>C (p.Gly24Ala)	PAX2-related disorder [RCV004528489]\|Renal coloboma syndrome [RCV001369569]	likely pathogenic\|uncertain significance	10	100749773	100749773	Human	2	name , trait
127271042	CV1098488	single nucleotide variant	NM_000278.5(PAX2):c.756C>T (p.Asp252=)	Renal coloboma syndrome [RCV001430808]	likely benign	10	100806569	100806569	Human	1	name
127332657	CV1120076	single nucleotide variant	NM_000278.5(PAX2):c.453G>A (p.Pro151=)	Renal coloboma syndrome [RCV001472369]\|not provided [RCV004571017]	likely benign	10	100779540	100779540	Human	1	name
127301669	CV1140907	single nucleotide variant	NM_000278.5(PAX2):c.507G>A (p.Thr169=)	Renal coloboma syndrome [RCV001498908]	likely benign	10	100781256	100781256	Human	1	name
127291645	CV1156328	single nucleotide variant	NM_000278.5(PAX2):c.963C>T (p.His321=)	Renal coloboma syndrome [RCV001510493]	benign\|likely benign	10	100824691	100824691	Human	1	name
150521055	CV1289972	single nucleotide variant	NM_000278.5(PAX2):c.477C>T (p.Thr159=)	Renal coloboma syndrome [RCV002073424]\|not provided [RCV001730355]	likely benign	10	100779564	100779564	Human	1	name
151758993	CV1340615	single nucleotide variant	NM_000278.5(PAX2):c.76G>T (p.Val26Leu)	Renal coloboma syndrome [RCV001913759]\|Renal coloboma syndrome [RCV004804297]	uncertain significance	10	100749778	100749778	Human	1	name
151830170	CV1426398	single nucleotide variant	NM_000278.5(PAX2):c.70G>A (p.Gly24Arg)	Renal coloboma syndrome [RCV001976574]	likely pathogenic\|uncertain significance	10	100749772	100749772	Human	1	name
151739304	CV1429089	single nucleotide variant	NM_000278.5(PAX2):c.76G>C (p.Val26Leu)	Renal coloboma syndrome [RCV002022163]	uncertain significance	10	100749778	100749778	Human	1	name
152139227	CV1533409	single nucleotide variant	NM_000278.5(PAX2):c.418C>A (p.Arg140=)	Renal coloboma syndrome [RCV002083928]	likely benign	10	100779505	100779505	Human	1	name
152144162	CV1538537	single nucleotide variant	NM_000278.5(PAX2):c.954C>T (p.Tyr318=)	Renal coloboma syndrome [RCV002219779]	likely benign	10	100824682	100824682	Human	1	name
152156986	CV1541691	single nucleotide variant	NM_000278.5(PAX2):c.885C>T (p.Asn295=)	Renal coloboma syndrome [RCV002103075]	likely benign	10	100809202	100809202	Human	1	name
152077923	CV1561029	single nucleotide variant	NM_000278.5(PAX2):c.528C>T (p.Ser176=)	PAX2-related disorder [RCV004543776]\|Renal coloboma syndrome [RCV002112358]	likely benign	10	100781277	100781277	Human	2	name , trait
152137977	CV1570777	single nucleotide variant	NM_000278.5(PAX2):c.477C>G (p.Thr159=)	Renal coloboma syndrome [RCV002119969]	likely benign	10	100779564	100779564	Human	1	name
152127865	CV1572153	single nucleotide variant	NM_000278.5(PAX2):c.735T>C (p.Phe245=)	PAX2-related disorder [RCV004543754]\|Renal coloboma syndrome [RCV002217656]	likely benign	10	100806548	100806548	Human	2	name , trait
152129065	CV1583838	single nucleotide variant	NM_000278.5(PAX2):c.945G>C (p.Leu315=)	Renal coloboma syndrome [RCV002199078]	likely benign	10	100824673	100824673	Human	1	name
152064409	CV1645008	single nucleotide variant	NM_000278.5(PAX2):c.699C>T (p.Phe233=)	Renal coloboma syndrome [RCV002147208]	likely benign	10	100806512	100806512	Human	1	name
9589262	CV166078	single nucleotide variant	NM_000278.5(PAX2):c.798C>T (p.Asn266=)	Renal coloboma syndrome [RCV001510482]\|not provided [RCV000144382]\|not specified [RCV000242495]	benign\|not provided	10	100809115	100809115	Human	1	name
9589264	CV166080	single nucleotide variant	NM_000278.5(PAX2):c.909A>C (p.Pro303=)	Focal segmental glomerulosclerosis 7 [RCV001788040]\|Renal coloboma syndrome [RCV000612081]\|Renal coloboma syndrome [RCV001510483]\|not provided [RCV000144384]\|not specified [RCV000247276]	benign\|not provided	10	100809226	100809226	Human	2	name
156414628	CV1908915	single nucleotide variant	NM_000278.5(PAX2):c.858A>G (p.Ala286=)	Renal coloboma syndrome [RCV002588715]	likely benign\|uncertain significance	10	100809175	100809175	Human	1	name
156321570	CV1978657	single nucleotide variant	NM_000278.5(PAX2):c.957C>G (p.Pro319=)	Renal coloboma syndrome [RCV002630379]	likely benign\|uncertain significance	10	100824685	100824685	Human	1	name
156306666	CV1999868	single nucleotide variant	NM_000278.5(PAX2):c.846G>A (p.Ser282=)	PAX2-related disorder [RCV004534163]\|Renal coloboma syndrome [RCV002671414]\|not provided [RCV004707809]	benign\|likely benign	10	100809163	100809163	Human	2	name , trait
156101287	CV2001091	single nucleotide variant	NM_000278.5(PAX2):c.585C>A (p.Arg195=)	Renal coloboma syndrome [RCV002639591]	likely benign	10	100781334	100781334	Human	1	name
156321414	CV2022081	single nucleotide variant	NM_000278.5(PAX2):c.915G>C (p.Val305=)	Renal coloboma syndrome [RCV002717114]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	100809232	100809232	Human	1	name
156174447	CV2051875	single nucleotide variant	NM_000278.5(PAX2):c.501C>T (p.Pro167=)	Renal coloboma syndrome [RCV002828095]	uncertain significance	10	100781250	100781250	Human	1	name
156086654	CV2080074	duplication	NM_000278.5(PAX2):c.227dup (p.Ser77fs)	Renal coloboma syndrome [RCV002847567]	pathogenic	10	100750706	100750707	Human	1	name
155965285	CV2080713	deletion	NM_000278.5(PAX2):c.115del (p.Gln39fs)	Renal coloboma syndrome [RCV002863053]	pathogenic	10	100749817	100749817	Human	1	name
155912707	CV2081347	deletion	NM_000278.5(PAX2):c.225del (p.Gly76fs)	Renal coloboma syndrome [RCV002858606]	pathogenic	10	100750705	100750705	Human	1	name
156264737	CV2100869	single nucleotide variant	NM_000278.5(PAX2):c.685C>A (p.Arg229=)	Renal coloboma syndrome [RCV002877396]	likely benign	10	100806498	100806498	Human	1	name
156091470	CV2102689	single nucleotide variant	NM_000278.5(PAX2):c.975T>A (p.Thr325=)	Renal coloboma syndrome [RCV002913053]	likely benign\|uncertain significance	10	100824703	100824703	Human	1	name
156099860	CV2107236	single nucleotide variant	NM_000278.5(PAX2):c.76G>A (p.Val26Met)	Inborn genetic diseases [RCV004066228]\|Renal coloboma syndrome [RCV002927009]	uncertain significance	10	100749778	100749778	Human	2	name
156016137	CV2114432	single nucleotide variant	NM_000278.5(PAX2):c.879C>A (p.Gly293=)	Renal coloboma syndrome [RCV002909374]	likely benign	10	100809196	100809196	Human	1	name
156030159	CV2125441	single nucleotide variant	NM_000278.5(PAX2):c.888G>T (p.Val296=)	Renal coloboma syndrome [RCV002949192]	likely benign	10	100809205	100809205	Human	1	name
156033180	CV2127823	single nucleotide variant	NM_000278.5(PAX2):c.310C>A (p.Arg104=)	Renal coloboma syndrome [RCV002923604]	likely benign	10	100750791	100750791	Human	1	name
156092917	CV2135636	single nucleotide variant	NM_000278.5(PAX2):c.933G>A (p.Ala311=)	Renal coloboma syndrome [RCV003001899]	likely benign	10	100824661	100824661	Human	1	name
156305971	CV2167532	single nucleotide variant	NM_000278.5(PAX2):c.92G>A (p.Arg31Gln)	Renal coloboma syndrome [RCV003045779]	uncertain significance	10	100749794	100749794	Human	1	name
156266576	CV2189256	deletion	NM_000278.5(PAX2):c.242del (p.Gly81fs)	Renal coloboma syndrome [RCV003044305]	pathogenic	10	100750721	100750721	Human	1	name
401887574	CV2772022	single nucleotide variant	NM_000278.5(PAX2):c.71G>A (p.Gly24Glu)	Inborn genetic diseases [RCV003352461]\|not provided [RCV004810001]	pathogenic\|likely pathogenic\|uncertain significance	10	100749773	100749773	Human	1	name
405867346	CV2842800	single nucleotide variant	NM_000278.5(PAX2):c.92G>C (p.Arg31Pro)	Focal segmental glomerulosclerosis 7 [RCV004577603]	likely pathogenic	10	100749794	100749794	Human	1	name
405010975	CV3083392	single nucleotide variant	NM_000278.5(PAX2):c.732C>T (p.Val244=)	Renal coloboma syndrome [RCV003784339]	likely benign	10	100806545	100806545	Human	1	name
405080172	CV3107300	single nucleotide variant	NM_000278.5(PAX2):c.510C>T (p.Ala170=)	Renal coloboma syndrome [RCV003800170]	likely benign	10	100781259	100781259	Human	1	name
405107918	CV3112201	single nucleotide variant	NM_000278.5(PAX2):c.71G>T (p.Gly24Val)	Renal coloboma syndrome [RCV003813044]	likely pathogenic	10	100749773	100749773	Human	1	name
407426661	CV3411461	single nucleotide variant	NM_000278.5(PAX2):c.89G>A (p.Gly30Asp)	Renal coloboma syndrome [RCV005038735]\|not provided [RCV004590639]	uncertain significance	10	100749791	100749791	Human	1	name
407426759	CV3411559	single nucleotide variant	NM_000278.5(PAX2):c.59T>G (p.Val20Gly)	not provided [RCV004590737]	uncertain significance	10	100749761	100749761	Human		name
407428982	CV3413369	single nucleotide variant	NM_000278.5(PAX2):c.74G>T (p.Gly25Val)	Renal coloboma syndrome [RCV004594775]	uncertain significance	10	100749776	100749776	Human	1	name
408379385	CV3506921	single nucleotide variant	NM_000278.5(PAX2):c.63C>A (p.Asn21Lys)	PAX2-related disorder [RCV004728419]	uncertain significance	10	100749765	100749765	Human		name , trait
597834569	CV3735240	single nucleotide variant	NM_000278.5(PAX2):c.74G>A (p.Gly25Glu)	Focal segmental glomerulosclerosis 7 [RCV005054973]	likely pathogenic	10	100749776	100749776	Human	1	name
597850973	CV3873337	single nucleotide variant	NM_000278.5(PAX2):c.993C>T (p.Pro331=)	Renal coloboma syndrome [RCV005212779]	likely benign	10	100824721	100824721	Human	1	name
597842304	CV3878253	single nucleotide variant	NM_000278.5(PAX2):c.453G>C (p.Pro151=)	Renal coloboma syndrome [RCV005226742]	likely benign	10	100779540	100779540	Human	1	name
598212582	CV4009066	single nucleotide variant	NM_000278.5(PAX2):c.97C>G (p.Leu33Val)	Focal segmental glomerulosclerosis 7 [RCV005400680]	likely pathogenic	10	100749799	100749799	Human	1	name
617152641	CV4020890	single nucleotide variant	NM_000278.5(PAX2):c.729G>A (p.Arg243=)	not provided [RCV005428643]	likely benign	10	100806542	100806542	Human		name
14698819	CV623301	deletion	NM_000278.5(PAX2):c.220del (p.Glu74fs)	Renal coloboma syndrome [RCV000786943]	likely pathogenic	10	100750701	100750701	Human	1	name
15184118	CV701138	single nucleotide variant	NM_000278.5(PAX2):c.819G>C (p.Leu273=)	Renal coloboma syndrome [RCV001517311]\|not provided [RCV003424494]	benign\|likely benign	10	100809136	100809136	Human	1	name
15177279	CV723717	single nucleotide variant	NM_000278.5(PAX2):c.354C>T (p.Leu118=)	PAX2-related disorder [RCV004541795]\|Renal coloboma syndrome [RCV001447451]\|not provided [RCV004705872]	likely benign	10	100750835	100750835	Human	2	name , trait
15105411	CV723718	single nucleotide variant	NM_000278.5(PAX2):c.357G>T (p.Leu119=)	Renal coloboma syndrome [RCV002065590]\|not provided [RCV000893073]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	100750838	100750838	Human	1	name
15166300	CV751893	single nucleotide variant	NM_000278.5(PAX2):c.318C>T (p.Asn106=)	not provided [RCV000926835]	likely benign	10	100750799	100750799	Human		name
15115154	CV751894	single nucleotide variant	NM_000278.5(PAX2):c.423C>T (p.Thr141=)	not provided [RCV000917407]	likely benign	10	100779510	100779510	Human		name
15193654	CV751895	single nucleotide variant	NM_000278.5(PAX2):c.450G>A (p.Thr150=)	Renal coloboma syndrome [RCV002505336]\|not provided [RCV000910902]	likely benign	10	100779537	100779537	Human	1	name
15111263	CV751896	single nucleotide variant	NM_000278.5(PAX2):c.507G>T (p.Thr169=)	Renal coloboma syndrome [RCV001441739]	likely benign	10	100781256	100781256	Human	1	name
15133700	CV751897	single nucleotide variant	NM_000278.5(PAX2):c.981G>A (p.Gln327=)	Renal coloboma syndrome [RCV001483796]	likely benign	10	100824709	100824709	Human	1	name
15104102	CV783518	single nucleotide variant	NM_000278.5(PAX2):c.384A>G (p.Thr128=)	not provided [RCV000976151]	likely benign	10	100750865	100750865	Human		name
26905647	CV836511	single nucleotide variant	NM_000278.5(PAX2):c.70G>C (p.Gly24Arg)	Renal coloboma syndrome [RCV001037111]	likely pathogenic\|uncertain significance	10	100749772	100749772	Human	1	name
41407979	CV962724	single nucleotide variant	NM_000278.5(PAX2):c.70G>T (p.Gly24Trp)	Renal coloboma syndrome [RCV001281302]	likely pathogenic	10	100749772	100749772	Human	1	name
127250718	CV1061844	single nucleotide variant	NM_000278.5(PAX2):c.250G>A (p.Gly84Ser)	Renal coloboma syndrome [RCV001385353]\|not provided [RCV004815521]	pathogenic\|likely pathogenic	10	100750731	100750731	Human	1	name
127274306	CV1065671	single nucleotide variant	NM_000278.5(PAX2):c.239C>A (p.Pro80Gln)	Focal segmental glomerulosclerosis 7 [RCV001391110]	likely pathogenic	10	100750720	100750720	Human	1	name
151347882	CV1319014	deletion	NM_000278.5(PAX2):c.576del (p.Ile193fs)	Renal hypoplasia [RCV001807653]	likely pathogenic	10	100781322	100781322	Human	2	name
151348167	CV1322432	single nucleotide variant	NM_000278.5(PAX2):c.263C>T (p.Pro88Leu)	Focal segmental glomerulosclerosis 7 [RCV001804228]	uncertain significance	10	100750744	100750744	Human	1	name
151348481	CV1324049	single nucleotide variant	NM_000278.5(PAX2):c.175C>T (p.Arg59Trp)	Focal segmental glomerulosclerosis 7 [RCV001807962]	likely pathogenic\|uncertain significance	10	100749877	100749877	Human	1	name
151348512	CV1324068	deletion	NM_000278.5(PAX2):c.791del (p.Gln264fs)	Focal segmental glomerulosclerosis 7 [RCV001807981]\|Renal coloboma syndrome [RCV002503302]\|Renal coloboma syndrome [RCV005054374]	pathogenic\|likely pathogenic	10	100806604	100806604	Human	2	name
151349218	CV1324386	single nucleotide variant	NM_000278.5(PAX2):c.211A>G (p.Arg71Gly)	Renal coloboma syndrome [RCV001808303]	likely pathogenic\|uncertain significance	10	100749913	100749913	Human	1	name
151732874	CV1336446	single nucleotide variant	NM_000278.5(PAX2):c.254G>T (p.Gly85Val)	Focal segmental glomerulosclerosis [RCV001849674]	likely pathogenic	10	100750735	100750735	Human	2	name
151732879	CV1336447	single nucleotide variant	NM_000278.5(PAX2):c.275C>T (p.Thr92Met)	Focal segmental glomerulosclerosis [RCV001849675]\|Renal coloboma syndrome [RCV005414340]	likely pathogenic	10	100750756	100750756	Human	4	name
151831406	CV1355942	single nucleotide variant	NM_000278.5(PAX2):c.248T>C (p.Ile83Thr)	Renal coloboma syndrome [RCV002030842]	uncertain significance	10	100750729	100750729	Human	1	name
151797819	CV1376541	single nucleotide variant	NM_000278.5(PAX2):c.244G>T (p.Val82Leu)	Renal coloboma syndrome [RCV001932025]	uncertain significance	10	100750725	100750725	Human	1	name
151713183	CV1394622	single nucleotide variant	NM_000278.5(PAX2):c.103G>A (p.Asp35Asn)	Renal coloboma syndrome [RCV001889803]	uncertain significance	10	100749805	100749805	Human	1	name
151880390	CV1405866	single nucleotide variant	NM_000278.5(PAX2):c.182G>A (p.Ser61Asn)	Renal coloboma syndrome [RCV001940934]	uncertain significance	10	100749884	100749884	Human	1	name
151841646	CV1438250	single nucleotide variant	NM_000278.5(PAX2):c.117G>T (p.Gln39His)	Renal coloboma syndrome [RCV001921603]	uncertain significance	10	100749819	100749819	Human	1	name
151790739	CV1475395	single nucleotide variant	NM_000278.5(PAX2):c.220G>A (p.Glu74Lys)	Renal coloboma syndrome [RCV001973027]\|Renal coloboma syndrome [RCV002282670]	uncertain significance	10	100750701	100750701	Human	1	name
151766277	CV1485934	deletion	NM_000278.5(PAX2):c.483del (p.Gly162fs)	Renal coloboma syndrome [RCV002044807]	pathogenic\|likely pathogenic	10	100779570	100779570	Human	1	name
9586965	CV165725	single nucleotide variant	NM_000278.5(PAX2):c.167G>A (p.Arg56Gln)	Focal segmental glomerulosclerosis 7 [RCV000144051]	pathogenic\|uncertain significance	10	100749869	100749869	Human	1	name
9589263	CV166079	deletion	NM_000278.5(PAX2):c.832del (p.Asp278fs)	not provided [RCV000144383]	not provided	10	100809149	100809149	Human		name
152999458	CV1679813	deletion	NM_000278.5(PAX2):c.869del (p.Pro290fs)	Focal segmental glomerulosclerosis 7 [RCV002251202]	likely pathogenic	10	100809184	100809184	Human	1	name
153304411	CV1687000	single nucleotide variant	NM_000278.5(PAX2):c.224C>T (p.Thr75Ile)	not provided [RCV002262288]	likely pathogenic	10	100750705	100750705	Human		name
155731982	CV1776352	single nucleotide variant	NM_000278.5(PAX2):c.1026C>T (p.Ser342=)	Renal coloboma syndrome [RCV002301739]	uncertain significance	10	100827013	100827013	Human	1	name
155692806	CV1779483	single nucleotide variant	NM_000278.5(PAX2):c.1041C>T (p.Asn347=)	Renal coloboma syndrome [RCV002295008]	uncertain significance	10	100827028	100827028	Human	1	name
156009570	CV1991600	single nucleotide variant	NM_000278.5(PAX2):c.103G>C (p.Asp35His)	Renal coloboma syndrome [RCV002618834]	uncertain significance	10	100749805	100749805	Human	1	name
156285990	CV2134145	single nucleotide variant	NM_000278.5(PAX2):c.198C>G (p.Ser66Arg)	Renal coloboma syndrome [RCV003009771]	uncertain significance	10	100749900	100749900	Human	1	name
11542456	CV213939	single nucleotide variant	NM_000278.5(PAX2):c.187G>A (p.Gly63Ser)	not provided [RCV000240634]	pathogenic	10	100749889	100749889	Human		name
156046233	CV2157836	single nucleotide variant	NM_000278.5(PAX2):c.194T>C (p.Val65Ala)	Renal coloboma syndrome [RCV003019241]	uncertain significance	10	100749896	100749896	Human	1	name
243051963	CV2405269	duplication	NM_000278.5(PAX2):c.358dup (p.Ala120fs)	Focal segmental glomerulosclerosis 7 [RCV003130906]	likely pathogenic	10	100750837	100750838	Human	1	name
243052870	CV2418034	single nucleotide variant	NM_000278.5(PAX2):c.125T>C (p.Val42Ala)	Renal coloboma syndrome [RCV003153099]	uncertain significance	10	100749827	100749827	Human	1	name
401856168	CV2752355	single nucleotide variant	NM_000278.5(PAX2):c.188G>A (p.Gly63Asp)	Renal coloboma syndrome [RCV003340691]	uncertain significance	10	100749890	100749890	Human	1	name
401907665	CV2800167	single nucleotide variant	NM_000278.5(PAX2):c.203T>A (p.Ile68Asn)	PAX2-related disorder [RCV004529643]	uncertain significance	10	100749905	100749905	Human		name , trait
401908389	CV2801282	single nucleotide variant	NM_000278.5(PAX2):c.182G>T (p.Ser61Ile)	PAX2-related disorder [RCV004531572]	likely pathogenic	10	100749884	100749884	Human		name , trait
401913378	CV2801713	single nucleotide variant	NM_000278.5(PAX2):c.115C>T (p.Gln39Ter)	PAX2-related disorder [RCV004529287]	likely pathogenic	10	100749817	100749817	Human		name , trait
405867276	CV2842774	single nucleotide variant	NM_000278.5(PAX2):c.154T>C (p.Cys52Arg)	Focal segmental glomerulosclerosis 7 [RCV004577576]	uncertain significance	10	100749856	100749856	Human	1	name
405867314	CV2842788	single nucleotide variant	NM_000278.5(PAX2):c.263C>G (p.Pro88Arg)	Focal segmental glomerulosclerosis 7 [RCV004577591]	pathogenic	10	100750744	100750744	Human	1	name
401964082	CV2844993	single nucleotide variant	NM_000278.5(PAX2):c.212G>T (p.Arg71Met)	Focal segmental glomerulosclerosis 7 [RCV003484558]	likely pathogenic	10	100749914	100749914	Human	1	name
407483199	CV2851959	single nucleotide variant	NM_000278.5(PAX2):c.166C>T (p.Arg56Trp)	Focal segmental glomerulosclerosis 7 [RCV004596592]	likely pathogenic	10	100749868	100749868	Human	1	name
8599570	CV28834	deletion	NM_000278.5(PAX2):c.561del (p.Asn188fs)	Renal coloboma syndrome [RCV000014805]	pathogenic	10	100781310	100781310	Human	1	name
8599573	CV28838	single nucleotide variant	NM_000278.5(PAX2):c.226G>A (p.Gly76Ser)	Renal coloboma syndrome [RCV000014810]\|not provided [RCV005255555]	pathogenic\|likely pathogenic	10	100750707	100750707	Human	1	name
8599577	CV28844	single nucleotide variant	NM_000278.5(PAX2):c.212G>C (p.Arg71Thr)	Papillorenal syndrome with macular abnormalities [RCV000014816]	pathogenic	10	100749914	100749914	Human	1	name
405018056	CV3100805	single nucleotide variant	NM_000278.5(PAX2):c.1023G>T (p.Gly341=)	Renal coloboma syndrome [RCV003805553]	uncertain significance	10	100827010	100827010	Human	1	name
405259148	CV3194566	deletion	NM_000278.5(PAX2):c.722del (p.Leu241fs)	PAX2-related disorder [RCV004531959]	pathogenic	10	100806533	100806533	Human		name , trait
405703891	CV3224548	deletion	NM_000278.5(PAX2):c.495del (p.Ile165fs)	Renal coloboma syndrome [RCV003989936]	likely pathogenic	10	100779581	100779581	Human	1	name
405774537	CV3374810	single nucleotide variant	NM_000278.5(PAX2):c.118C>T (p.Arg40Cys)	Inborn genetic diseases [RCV004502869]	uncertain significance	10	100749820	100749820	Human	1	name
405855381	CV3394144	single nucleotide variant	NM_000278.5(PAX2):c.190T>C (p.Cys64Arg)	Renal coloboma syndrome [RCV004547371]	uncertain significance	10	100749892	100749892	Human	1	name
405853757	CV3395184	single nucleotide variant	NM_000278.5(PAX2):c.254G>A (p.Gly85Asp)	Renal coloboma syndrome [RCV004555326]	pathogenic	10	100750735	100750735	Human	1	name
405854033	CV3395499	single nucleotide variant	NM_000278.5(PAX2):c.157G>A (p.Asp53Asn)	Focal segmental glomerulosclerosis 7 [RCV004555754]	uncertain significance	10	100749859	100749859	Human	1	name
596945535	CV3407524	single nucleotide variant	NM_000278.5(PAX2):c.219C>A (p.Tyr73Ter)	Retinal dystrophy [RCV004818617]	pathogenic	10	100750700	100750700	Human	2	name
407518484	CV3466697	single nucleotide variant	NM_000278.5(PAX2):c.148C>G (p.Arg50Gly)	Inborn genetic diseases [RCV004651016]	likely pathogenic\|uncertain significance	10	100749850	100749850	Human	1	name
408377138	CV3501512	duplication	NM_000278.5(PAX2):c.959dup (p.His321fs)	Focal segmental glomerulosclerosis 7 [RCV004727586]	likely pathogenic	10	100824681	100824682	Human	1	name
408393947	CV3521643	single nucleotide variant	NM_000278.5(PAX2):c.238C>G (p.Pro80Ala)	Renal coloboma syndrome [RCV004764441]	uncertain significance	10	100750719	100750719	Human	1	name
408391358	CV3527970	single nucleotide variant	NM_000278.5(PAX2):c.140A>C (p.Gln47Pro)	not provided [RCV004775242]	uncertain significance	10	100749842	100749842	Human		name
596926930	CV3532452	single nucleotide variant	NM_000278.5(PAX2):c.286G>C (p.Val96Leu)	not provided [RCV004778550]	uncertain significance	10	100750767	100750767	Human		name
597703251	CV3568370	single nucleotide variant	NM_000278.5(PAX2):c.1035C>T (p.Ser345=)	Inborn genetic diseases [RCV004956935]\|Renal coloboma syndrome [RCV005221113]	likely benign\|uncertain significance	10	100827022	100827022	Human	2	name
597734971	CV3724531	single nucleotide variant	NM_000278.5(PAX2):c.107T>A (p.Val36Glu)	Renal coloboma syndrome [RCV005037378]	uncertain significance	10	100749809	100749809	Human	1	name
597734993	CV3724542	single nucleotide variant	NM_000278.5(PAX2):c.169C>T (p.Gln57Ter)	Renal coloboma syndrome [RCV005037382]	likely pathogenic	10	100749871	100749871	Human	1	name
597652550	CV3724559	single nucleotide variant	NM_000278.5(PAX2):c.227G>A (p.Gly76Asp)	Renal coloboma syndrome [RCV005027004]	likely pathogenic	10	100750708	100750708	Human	1	name
597652591	CV3724564	single nucleotide variant	NM_000278.5(PAX2):c.230G>A (p.Ser77Asn)	Renal coloboma syndrome [RCV005027008]	uncertain significance	10	100750711	100750711	Human	1	name
597652662	CV3724573	single nucleotide variant	NM_000278.5(PAX2):c.242G>T (p.Gly81Val)	Renal coloboma syndrome [RCV005027016]	uncertain significance	10	100750723	100750723	Human	1	name
597653320	CV3724702	deletion	NM_000278.5(PAX2):c.952del (p.Tyr318fs)	Renal coloboma syndrome [RCV005027095]	likely pathogenic	10	100824679	100824679	Human	1	name
597709008	CV3732885	single nucleotide variant	NM_000278.5(PAX2):c.196A>G (p.Ser66Gly)	Renal coloboma syndrome [RCV005051232]	uncertain significance	10	100749898	100749898	Human	1	name
597832625	CV3734637	single nucleotide variant	NM_000278.5(PAX2):c.257C>T (p.Ser86Phe)	Focal segmental glomerulosclerosis 7 [RCV005054018]	uncertain significance	10	100750738	100750738	Human	1	name
597834556	CV3735235	single nucleotide variant	NM_000278.5(PAX2):c.206T>C (p.Leu69Pro)	Congenital anomalies of kidney and urinary tract 1 [RCV005054968]\|Focal segmental glomerulosclerosis 7 [RCV005254983]	likely pathogenic	10	100749908	100749908	Human	2	name
597834634	CV3864305	single nucleotide variant	NM_000278.5(PAX2):c.106G>A (p.Val36Met)	Renal coloboma syndrome [RCV005209941]	uncertain significance	10	100749808	100749808	Human	1	name
597840749	CV3864541	deletion	NM_000278.5(PAX2):c.752del (p.Pro251fs)	Renal coloboma syndrome [RCV005211152]	pathogenic	10	100806563	100806563	Human	1	name
597869526	CV3869571	single nucleotide variant	NM_000278.5(PAX2):c.297T>G (p.Ile99Met)	Renal coloboma syndrome [RCV005215502]	uncertain significance	10	100750778	100750778	Human	1	name
597925039	CV3877393	deletion	NM_000278.5(PAX2):c.334del (p.Trp112fs)	Renal coloboma syndrome [RCV005224089]	pathogenic	10	100750815	100750815	Human	1	name
598225557	CV3892383	single nucleotide variant	NM_000278.5(PAX2):c.253G>T (p.Gly85Cys)	Focal segmental glomerulosclerosis 7 [RCV005254218]	likely pathogenic	10	100750734	100750734	Human	1	name
616932961	CV4010460	single nucleotide variant	NM_000278.5(PAX2):c.217T>C (p.Tyr73His)	Renal coloboma syndrome [RCV005403805]	likely pathogenic	10	100750698	100750698	Human	1	name
616938803	CV4015871	deletion	NM_000278.5(PAX2):c.473del (p.Val158fs)	Renal coloboma syndrome [RCV005414423]	likely pathogenic	10	100779560	100779560	Human	1	name
13478053	CV460453	single nucleotide variant	NM_000278.5(PAX2):c.239C>T (p.Pro80Leu)	Renal coloboma syndrome [RCV000549890]\|not provided [RCV001783049]	pathogenic\|likely pathogenic\|uncertain significance	10	100750720	100750720	Human	1	name
13799127	CV553546	single nucleotide variant	NM_000278.5(PAX2):c.113G>A (p.Arg38Lys)	not provided [RCV000681821]	likely pathogenic	10	100749815	100749815	Human		name
13799158	CV553577	single nucleotide variant	NM_000278.5(PAX2):c.219C>G (p.Tyr73Ter)	PAX2-related disorder [RCV004527736]\|Renal coloboma syndrome [RCV005414330]	pathogenic\|likely pathogenic	10	100750700	100750700	Human	2	name , trait
13799170	CV553588	single nucleotide variant	NM_000278.5(PAX2):c.220G>T (p.Glu74Ter)	Renal coloboma syndrome [RCV005223120]\|not provided [RCV000681874]	pathogenic\|likely pathogenic	10	100750701	100750701	Human	1	name
13799274	CV553625	single nucleotide variant	NM_000278.5(PAX2):c.265A>T (p.Lys89Ter)	not provided [RCV000681921]	likely pathogenic	10	100750746	100750746	Human		name
14697942	CV623302	single nucleotide variant	NM_000278.5(PAX2):c.272C>T (p.Ala91Val)	Focal segmental glomerulosclerosis 7 [RCV000787007]\|Renal coloboma syndrome [RCV005225141]	uncertain significance	10	100750753	100750753	Human	2	name
14699261	CV624398	single nucleotide variant	NM_000278.5(PAX2):c.226G>C (p.Gly76Arg)	Focal segmental glomerulosclerosis 7 [RCV002290036]\|PAX2-related disorder [RCV004738005]\|Renal coloboma syndrome [RCV003388597]\|See cases [RCV003325974]\|not provided [RCV000788556]	likely pathogenic	10	100750707	100750707	Human	2	name , trait
25314725	CV818274	single nucleotide variant	NM_000278.5(PAX2):c.148C>T (p.Arg50Trp)	Focal segmental glomerulosclerosis 7 [RCV001029782]\|Renal coloboma syndrome [RCV001391111]	likely pathogenic\|uncertain significance	10	100749850	100749850	Human	2	name
38598115	CV964337	single nucleotide variant	NM_000278.5(PAX2):c.263C>A (p.Pro88His)	Focal segmental glomerulosclerosis 7 [RCV001253417]	uncertain significance	10	100750744	100750744	Human	1	name
126743854	CV1008822	single nucleotide variant	NM_000278.5(PAX2):c.491C>A (p.Thr164Asn)	PAX2-related disorder [RCV004738252]\|Renal coloboma syndrome [RCV001325680]\|Retinal dystrophy [RCV004815378]\|not provided [RCV001552728]\|not specified [RCV004690078]	uncertain significance	10	100779578	100779578	Human	4	name , trait
126748867	CV1029385	single nucleotide variant	NM_000278.5(PAX2):c.584G>A (p.Arg195His)	Inborn genetic diseases [RCV004035844]\|PAX2-related disorder [RCV004531128]\|Renal coloboma syndrome [RCV001337740]	uncertain significance	10	100781333	100781333	Human	3	name , trait
126912295	CV1046362	single nucleotide variant	NM_000278.5(PAX2):c.793G>C (p.Gly265Arg)	Renal coloboma syndrome [RCV001369663]	uncertain significance	10	100809110	100809110	Human	1	name
126919431	CV1046363	single nucleotide variant	NM_000278.5(PAX2):c.976G>A (p.Gly326Ser)	Renal coloboma syndrome [RCV001373225]\|not provided [RCV001751735]	uncertain significance	10	100824704	100824704	Human	1	name
127246608	CV1055885	single nucleotide variant	NM_000278.5(PAX2):c.418C>T (p.Arg140Trp)	PAX2-related disorder [RCV004531187]\|Renal coloboma syndrome [RCV001377630]	pathogenic\|likely pathogenic	10	100779505	100779505	Human	2	name , trait
127272579	CV1061845	single nucleotide variant	NM_000278.5(PAX2):c.430C>T (p.Gln144Ter)	Renal coloboma syndrome [RCV001390508]	pathogenic	10	100779517	100779517	Human	1	name
127250725	CV1061846	single nucleotide variant	NM_000278.5(PAX2):c.906C>A (p.Tyr302Ter)	Renal coloboma syndrome [RCV001385354]	pathogenic	10	100809223	100809223	Human	1	name
150338474	CV1174147	single nucleotide variant	NM_000278.5(PAX2):c.757G>A (p.Val253Ile)	Renal coloboma syndrome [RCV001542408]\|Renal coloboma syndrome [RCV002032531]	conflicting interpretations of pathogenicity\|uncertain significance	10	100806570	100806570	Human	1	name
150547772	CV1292184	single nucleotide variant	NM_000278.5(PAX2):c.310C>T (p.Arg104Ter)	PAX2-related disorder [RCV001733843]\|Renal coloboma syndrome [RCV002243456]\|Renal coloboma syndrome [RCV005225461]	pathogenic	10	100750791	100750791	Human	2	name , trait
150549351	CV1294834	single nucleotide variant	NM_000278.5(PAX2):c.419G>A (p.Arg140Gln)	not provided [RCV001752326]	likely pathogenic\|uncertain significance	10	100779506	100779506	Human		name
151348784	CV1324219	single nucleotide variant	NM_000278.5(PAX2):c.574G>C (p.Gly192Arg)	Focal segmental glomerulosclerosis 7 [RCV001808135]	uncertain significance	10	100781323	100781323	Human	1	name
151836591	CV1339348	single nucleotide variant	NM_000278.5(PAX2):c.648T>G (p.Asp216Glu)	Renal coloboma syndrome [RCV002014855]	uncertain significance	10	100806461	100806461	Human	1	name
151864325	CV1346582	single nucleotide variant	NM_000278.5(PAX2):c.497T>C (p.Val166Ala)	Renal coloboma syndrome [RCV001959636]	uncertain significance	10	100781246	100781246	Human	1	name
151844872	CV1349634	single nucleotide variant	NM_000278.5(PAX2):c.803A>T (p.Tyr268Phe)	Renal coloboma syndrome [RCV001936574]	uncertain significance	10	100809120	100809120	Human	1	name
151824966	CV1354523	single nucleotide variant	NM_000278.5(PAX2):c.608G>C (p.Arg203Pro)	Renal coloboma syndrome [RCV001869980]	uncertain significance	10	100781357	100781357	Human	1	name
151723825	CV1356871	single nucleotide variant	NM_000278.5(PAX2):c.533C>G (p.Ser178Cys)	Renal coloboma syndrome [RCV001966334]	uncertain significance	10	100781282	100781282	Human	1	name
151749687	CV1358943	single nucleotide variant	NM_000278.5(PAX2):c.482C>T (p.Pro161Leu)	Renal coloboma syndrome [RCV001969059]	uncertain significance	10	100779569	100779569	Human	1	name
151749316	CV1360929	single nucleotide variant	NM_000278.5(PAX2):c.337G>A (p.Glu113Lys)	Renal coloboma syndrome [RCV001872091]	uncertain significance	10	100750818	100750818	Human	1	name
151748966	CV1362677	single nucleotide variant	NM_000278.5(PAX2):c.490A>G (p.Thr164Ala)	Renal coloboma syndrome [RCV001968978]	uncertain significance	10	100779577	100779577	Human	1	name
151838878	CV1382806	single nucleotide variant	NM_000278.5(PAX2):c.529G>A (p.Ala177Thr)	Inborn genetic diseases [RCV002550488]\|Renal coloboma syndrome [RCV002031580]\|not provided [RCV005057942]	uncertain significance	10	100781278	100781278	Human	2	name
151838547	CV1383294	single nucleotide variant	NM_000278.5(PAX2):c.845C>T (p.Ser282Leu)	Renal coloboma syndrome [RCV001921256]	uncertain significance	10	100809162	100809162	Human	1	name
151815994	CV1389331	single nucleotide variant	NM_000278.5(PAX2):c.656G>A (p.Ser219Asn)	Renal coloboma syndrome [RCV002012913]\|not provided [RCV003314717]	uncertain significance	10	100806469	100806469	Human	1	name
151826111	CV1404292	single nucleotide variant	NM_000278.5(PAX2):c.445C>T (p.Pro149Ser)	Inborn genetic diseases [RCV004651879]\|Renal coloboma syndrome [RCV001976197]	uncertain significance	10	100779532	100779532	Human	2	name
151728961	CV1410068	single nucleotide variant	NM_000278.5(PAX2):c.785C>A (p.Ser262Ter)	Renal coloboma syndrome [RCV001910668]	pathogenic	10	100806598	100806598	Human	1	name
151767300	CV1415089	single nucleotide variant	NM_000278.5(PAX2):c.595G>C (p.Glu199Gln)	Renal coloboma syndrome [RCV001929175]	uncertain significance	10	100781344	100781344	Human	1	name
151743760	CV1431334	single nucleotide variant	NM_000278.5(PAX2):c.964G>A (p.Val322Met)	Renal coloboma syndrome [RCV001893539]	uncertain significance	10	100824692	100824692	Human	1	name
151784783	CV1435259	single nucleotide variant	NM_000278.5(PAX2):c.320C>T (p.Pro107Leu)	Renal coloboma syndrome [RCV001916209]	uncertain significance	10	100750801	100750801	Human	1	name
151883949	CV1452519	single nucleotide variant	NM_000278.5(PAX2):c.374A>T (p.Asp125Val)	Renal coloboma syndrome [RCV002037450]	uncertain significance	10	100750855	100750855	Human	1	name
151734760	CV1453191	single nucleotide variant	NM_000278.5(PAX2):c.706C>A (p.Gln236Lys)	Renal coloboma syndrome [RCV002041579]	uncertain significance	10	100806519	100806519	Human	1	name
151775027	CV1455850	single nucleotide variant	NM_000278.5(PAX2):c.452C>T (p.Pro151Leu)	Inborn genetic diseases [RCV002548205]\|Renal coloboma syndrome [RCV002045608]	uncertain significance	10	100779539	100779539	Human	2	name
151859813	CV1486667	single nucleotide variant	NM_000278.5(PAX2):c.361G>C (p.Glu121Gln)	Renal coloboma syndrome [RCV001883774]	uncertain significance	10	100750842	100750842	Human	1	name
151714867	CV1492700	single nucleotide variant	NM_000278.5(PAX2):c.775C>A (p.His259Asn)	Renal coloboma syndrome [RCV001890123]	uncertain significance	10	100806588	100806588	Human	1	name
151833526	CV1493160	single nucleotide variant	NM_000278.5(PAX2):c.452C>A (p.Pro151Gln)	Renal coloboma syndrome [RCV001935295]	uncertain significance	10	100779539	100779539	Human	1	name
151761481	CV1496425	single nucleotide variant	NM_000278.5(PAX2):c.814G>A (p.Ala272Thr)	Renal coloboma syndrome [RCV001895371]	uncertain significance	10	100809131	100809131	Human	1	name
151724668	CV1496659	single nucleotide variant	NM_000278.5(PAX2):c.506C>T (p.Thr169Met)	Inborn genetic diseases [RCV004955809]\|Renal coloboma syndrome [RCV001910183]	likely benign\|uncertain significance	10	100781255	100781255	Human	2	name
151759238	CV1503683	single nucleotide variant	NM_000278.5(PAX2):c.907C>G (p.Pro303Ala)	Renal coloboma syndrome [RCV002007662]	uncertain significance	10	100809224	100809224	Human	1	name
151764165	CV1516898	single nucleotide variant	NM_000278.5(PAX2):c.739C>T (p.Arg247Cys)	Renal coloboma syndrome [RCV002024716]\|Retinal dystrophy [RCV004816936]	uncertain significance	10	100806552	100806552	Human	3	name
152079171	CV1632371	single nucleotide variant	NM_000278.5(PAX2):c.728G>A (p.Arg243Gln)	PAX2-related disorder [RCV004543876]\|Renal coloboma syndrome [RCV002130614]	likely benign	10	100806541	100806541	Human	2	name , trait
9586964	CV165724	single nucleotide variant	NM_000278.5(PAX2):c.565G>A (p.Gly189Arg)	Focal segmental glomerulosclerosis 7 [RCV000144050]	pathogenic	10	100781314	100781314	Human	1	name
9589259	CV166074	single nucleotide variant	NM_000278.5(PAX2):c.685C>T (p.Arg229Ter)	Focal segmental glomerulosclerosis 7 [RCV001813758]\|Renal coloboma syndrome [RCV001808402]\|Renal coloboma syndrome [RCV002498654]\|not provided [RCV000144378]	pathogenic\|not provided	10	100806498	100806498	Human	2	name
9589261	CV166076	single nucleotide variant	NM_000278.5(PAX2):c.706C>T (p.Gln236Ter)	Renal coloboma syndrome [RCV000014815]\|not provided [RCV000144380]	pathogenic\|not provided	10	100806519	100806519	Human	1	name
9589265	CV166081	single nucleotide variant	NM_000278.5(PAX2):c.932C>T (p.Ala311Val)	PAX2-related disorder [RCV004544325]\|Renal coloboma syndrome [RCV001085420]\|Retinal dystrophy [RCV000504921]\|not provided [RCV000144385]	likely pathogenic\|benign\|likely benign\|uncertain significance\|not provided	10	100824660	100824660	Human	4	name , trait
155268067	CV1701556	single nucleotide variant	NM_000278.5(PAX2):c.409A>T (p.Arg137Ter)	Renal coloboma syndrome [RCV002283783]	pathogenic	10	100750890	100750890	Human	1	name
155748801	CV1772384	single nucleotide variant	NM_000278.5(PAX2):c.352C>G (p.Leu118Val)	Renal coloboma syndrome [RCV002303933]	uncertain significance	10	100750833	100750833	Human	1	name
156258667	CV1875601	single nucleotide variant	NM_000278.5(PAX2):c.886G>A (p.Val296Met)	PAX2-related disorder [RCV004536551]\|Renal coloboma syndrome [RCV003060282]	uncertain significance	10	100809203	100809203	Human	2	name , trait
156379053	CV1876803	single nucleotide variant	NM_000278.5(PAX2):c.461C>T (p.Ala154Val)	Renal coloboma syndrome [RCV003067005]	uncertain significance	10	100779548	100779548	Human	1	name
155968996	CV1888806	single nucleotide variant	NM_000278.5(PAX2):c.350G>A (p.Arg117Gln)	Renal coloboma syndrome [RCV003075082]	uncertain significance	10	100750831	100750831	Human	1	name
156122817	CV1892676	single nucleotide variant	NM_000278.5(PAX2):c.432G>T (p.Gln144His)	Renal coloboma syndrome [RCV003081512]	uncertain significance	10	100779519	100779519	Human	1	name
156101546	CV1907137	single nucleotide variant	NM_000278.5(PAX2):c.686G>A (p.Arg229Gln)	Inborn genetic diseases [RCV004073281]\|Renal coloboma syndrome [RCV003080620]	uncertain significance	10	100806499	100806499	Human	2	name
156194654	CV1912229	single nucleotide variant	NM_000278.5(PAX2):c.680A>G (p.His227Arg)	Renal coloboma syndrome [RCV002595492]	uncertain significance	10	100806493	100806493	Human	1	name
156034560	CV1932607	single nucleotide variant	NM_000278.5(PAX2):c.449C>T (p.Thr150Met)	Renal coloboma syndrome [RCV002637312]	conflicting interpretations of pathogenicity\|uncertain significance	10	100779536	100779536	Human	1	name
156414761	CV1982983	single nucleotide variant	NM_000278.5(PAX2):c.673C>T (p.Arg225Trp)	Renal coloboma syndrome [RCV002609352]\|not provided [RCV004801230]	uncertain significance	10	100806486	100806486	Human	1	name
156115908	CV1993915	single nucleotide variant	NM_000278.5(PAX2):c.750C>A (p.Tyr250Ter)	Renal coloboma syndrome [RCV002662664]	pathogenic	10	100806563	100806563	Human	1	name
156094338	CV2004476	single nucleotide variant	NM_000278.5(PAX2):c.967C>T (p.Pro323Ser)	Renal coloboma syndrome [RCV002639337]	uncertain significance	10	100824695	100824695	Human	1	name
156204028	CV2011101	single nucleotide variant	NM_000278.5(PAX2):c.638C>G (p.Pro213Arg)	Renal coloboma syndrome [RCV002700378]	uncertain significance	10	100806451	100806451	Human	1	name
155961922	CV2036721	single nucleotide variant	NM_000278.5(PAX2):c.527G>C (p.Ser176Thr)	Renal coloboma syndrome [RCV002776307]	uncertain significance	10	100781276	100781276	Human	1	name
156371870	CV2048513	single nucleotide variant	NM_000278.5(PAX2):c.665A>G (p.Asp222Gly)	Renal coloboma syndrome [RCV002814344]	uncertain significance	10	100806478	100806478	Human	1	name
156202390	CV2062992	single nucleotide variant	NM_000278.5(PAX2):c.327G>A (p.Met109Ile)	Renal coloboma syndrome [RCV002828988]	uncertain significance	10	100750808	100750808	Human	1	name
155984784	CV2070316	single nucleotide variant	NM_000278.5(PAX2):c.367A>G (p.Ile123Val)	Inborn genetic diseases [RCV004654036]\|Renal coloboma syndrome [RCV002842690]	uncertain significance	10	100750848	100750848	Human	2	name
156197414	CV2095410	single nucleotide variant	NM_000278.5(PAX2):c.922C>T (p.Arg308Cys)	Inborn genetic diseases [RCV002917665]\|Renal coloboma syndrome [RCV002895622]	uncertain significance	10	100824650	100824650	Human	2	name
156155441	CV2098700	single nucleotide variant	NM_000278.5(PAX2):c.812C>G (p.Pro271Arg)	Renal coloboma syndrome [RCV002890796]	uncertain significance	10	100809129	100809129	Human	1	name
156324183	CV2108412	single nucleotide variant	NM_000278.5(PAX2):c.656G>C (p.Ser219Thr)	Renal coloboma syndrome [RCV002937967]	uncertain significance	10	100806469	100806469	Human	1	name
156292944	CV2111505	single nucleotide variant	NM_000278.5(PAX2):c.550T>A (p.Ser184Thr)	Renal coloboma syndrome [RCV002922230]	uncertain significance	10	100781299	100781299	Human	1	name
156005401	CV2127361	single nucleotide variant	NM_000278.5(PAX2):c.361G>A (p.Glu121Lys)	Renal coloboma syndrome [RCV002947995]	uncertain significance	10	100750842	100750842	Human	1	name
11542458	CV213937	duplication	NM_000278.5(PAX2):c.58_64dup (p.Gln22fs)	not provided [RCV000240647]	pathogenic	10	100749759	100749760	Human		name
155907288	CV2148251	single nucleotide variant	NM_000278.5(PAX2):c.520G>A (p.Val174Ile)	Renal coloboma syndrome [RCV003011998]	uncertain significance	10	100781269	100781269	Human	1	name
156030906	CV2156408	single nucleotide variant	NM_000278.5(PAX2):c.311G>A (p.Arg104Gln)	Renal coloboma syndrome [RCV003018670]	uncertain significance	10	100750792	100750792	Human	1	name
156331976	CV2181139	single nucleotide variant	NM_000278.5(PAX2):c.659G>A (p.Gly220Asp)	Renal coloboma syndrome [RCV003047273]	uncertain significance	10	100806472	100806472	Human	1	name
156313182	CV2196469	single nucleotide variant	NM_000278.5(PAX2):c.674G>A (p.Arg225Gln)	Inborn genetic diseases [RCV002648342]\|Renal coloboma syndrome [RCV005227816]	uncertain significance	10	100806487	100806487	Human	2	name
155982914	CV2239930	single nucleotide variant	NM_000278.5(PAX2):c.910G>A (p.Val304Ile)	Inborn genetic diseases [RCV002777879]	uncertain significance	10	100809227	100809227	Human	1	name
12791313	CV226086	single nucleotide variant	NM_000278.5(PAX2):c.511T>C (p.Ser171Pro)	Renal cysts and diabetes syndrome [RCV000416568]	uncertain significance	10	100781260	100781260	Human	1	name
156177569	CV2278361	single nucleotide variant	NM_000278.5(PAX2):c.344G>A (p.Arg115Gln)	Inborn genetic diseases [RCV002873469]	uncertain significance	10	100750825	100750825	Human	1	name
156189789	CV2289208	single nucleotide variant	NM_000278.5(PAX2):c.808C>T (p.Leu270Phe)	Inborn genetic diseases [RCV002874172]	uncertain significance	10	100809125	100809125	Human	1	name
155981478	CV2337048	single nucleotide variant	NM_000278.5(PAX2):c.590A>G (p.Asn197Ser)	Inborn genetic diseases [RCV002973892]	uncertain significance	10	100781339	100781339	Human	1	name
156346014	CV2373013	single nucleotide variant	NM_000278.5(PAX2):c.451C>G (p.Pro151Ala)	Inborn genetic diseases [RCV002675027]\|Renal coloboma syndrome [RCV003778566]	uncertain significance	10	100779538	100779538	Human	2	name
243059282	CV2408517	single nucleotide variant	NM_000278.5(PAX2):c.728G>C (p.Arg243Pro)	Inborn genetic diseases [RCV004246035]\|Renal coloboma syndrome [RCV003778742]\|not provided [RCV003134749]	uncertain significance	10	100806541	100806541	Human	2	name
329848094	CV2667713	single nucleotide variant	NM_000278.5(PAX2):c.692A>G (p.Asp231Gly)	not provided [RCV003229280]	uncertain significance	10	100806505	100806505	Human		name
401757547	CV2707843	single nucleotide variant	NM_000278.5(PAX2):c.929T>A (p.Met310Lys)	Inborn genetic diseases [RCV003256082]	uncertain significance	10	100824657	100824657	Human	1	name
401721367	CV2737538	single nucleotide variant	NM_000278.5(PAX2):c.871G>T (p.Glu291Ter)	Renal coloboma syndrome [RCV003314477]	likely pathogenic	10	100809188	100809188	Human	1	name
401830968	CV2748616	single nucleotide variant	NM_000278.5(PAX2):c.832G>T (p.Asp278Tyr)	Focal segmental glomerulosclerosis 7 [RCV003330266]	uncertain significance	10	100809149	100809149	Human	1	name
401905135	CV2800479	single nucleotide variant	NM_000278.5(PAX2):c.491C>G (p.Thr164Ser)	PAX2-related disorder [RCV004538970]\|Renal coloboma syndrome [RCV003778182]	uncertain significance	10	100779578	100779578	Human	2	name , trait
401904523	CV2809544	single nucleotide variant	NM_001304569.2(PAX2):c.13G>A (p.Ala5Thr)	not provided [RCV003422805]	uncertain significance	10	100735721	100735721	Human		name
401914858	CV2830865	single nucleotide variant	NM_000278.5(PAX2):c.418C>G (p.Arg140Gly)	not provided [RCV003442604]	uncertain significance	10	100779505	100779505	Human		name
405867349	CV2842806	single nucleotide variant	NM_000278.5(PAX2):c.337G>T (p.Glu113Ter)	Focal segmental glomerulosclerosis 7 [RCV004577609]	pathogenic	10	100750818	100750818	Human	1	name
8599575	CV28841	duplication	NM_000278.5(PAX2):c.75_76dup (p.Val26fs)	Renal coloboma syndrome [RCV000014813]	pathogenic	10	100749771	100749772	Human	1	name
8599576	CV28842	single nucleotide variant	NM_000278.5(PAX2):c.954C>A (p.Tyr318Ter)	Renal coloboma syndrome [RCV000014814]\|not provided [RCV001093422]	pathogenic	10	100824682	100824682	Human	1	name
402492431	CV3082146	single nucleotide variant	NM_000278.5(PAX2):c.608G>A (p.Arg203His)	Renal coloboma syndrome [RCV003787706]	uncertain significance	10	100781357	100781357	Human	1	name
405052730	CV3084660	single nucleotide variant	NM_000278.5(PAX2):c.917C>T (p.Thr306Ile)	Inborn genetic diseases [RCV005387262]\|Renal coloboma syndrome [RCV003798067]	uncertain significance	10	100809234	100809234	Human	2	name
402519483	CV3086141	single nucleotide variant	NM_000278.5(PAX2):c.587C>T (p.Ser196Phe)	Renal coloboma syndrome [RCV003780912]	uncertain significance	10	100781336	100781336	Human	1	name
402497582	CV3092767	single nucleotide variant	NM_000278.5(PAX2):c.923G>A (p.Arg308His)	Renal coloboma syndrome [RCV003788230]	uncertain significance	10	100824651	100824651	Human	1	name
402499851	CV3092994	single nucleotide variant	NM_000278.5(PAX2):c.607C>T (p.Arg203Cys)	Renal coloboma syndrome [RCV003788458]	uncertain significance	10	100781356	100781356	Human	1	name
405020808	CV3101240	single nucleotide variant	NM_000278.5(PAX2):c.959C>G (p.Pro320Arg)	Renal coloboma syndrome [RCV003805819]	uncertain significance	10	100824687	100824687	Human	1	name
405060465	CV3102787	single nucleotide variant	NM_000278.5(PAX2):c.551C>A (p.Ser184Tyr)	Renal coloboma syndrome [RCV003798777]	uncertain significance	10	100781300	100781300	Human	1	name
405062077	CV3102914	single nucleotide variant	NM_000278.5(PAX2):c.751C>T (p.Pro251Ser)	Inborn genetic diseases [RCV004953542]\|Renal coloboma syndrome [RCV003798905]	uncertain significance	10	100806564	100806564	Human	2	name
405015154	CV3104422	single nucleotide variant	NM_000278.5(PAX2):c.562A>G (p.Asn188Asp)	Renal coloboma syndrome [RCV003805291]	uncertain significance	10	100781311	100781311	Human	1	name
405077921	CV3114633	single nucleotide variant	NM_000278.5(PAX2):c.326T>C (p.Met109Thr)	Renal coloboma syndrome [RCV003810195]	uncertain significance	10	100750807	100750807	Human	1	name
405257510	CV3194789	single nucleotide variant	NM_000278.5(PAX2):c.602G>A (p.Arg201Lys)	PAX2-related disorder [RCV004531987]	uncertain significance	10	100781351	100781351	Human		name , trait
405690985	CV3227469	single nucleotide variant	NM_000278.5(PAX2):c.389C>G (p.Pro130Arg)	Renal coloboma syndrome [RCV003991814]	likely pathogenic	10	100750870	100750870	Human	1	name
405774542	CV3374811	single nucleotide variant	NM_000278.5(PAX2):c.363G>C (p.Glu121Asp)	Inborn genetic diseases [RCV004502870]	uncertain significance	10	100750844	100750844	Human	1	name
405774548	CV3374812	single nucleotide variant	NM_000278.5(PAX2):c.710A>G (p.Gln237Arg)	Inborn genetic diseases [RCV004502871]	uncertain significance	10	100806523	100806523	Human	1	name
405867409	CV3394355	single nucleotide variant	NM_000278.5(PAX2):c.393C>G (p.Ser131Arg)	Focal segmental glomerulosclerosis 7 [RCV004566472]	uncertain significance	10	100750874	100750874	Human	1	name
405852332	CV3395925	single nucleotide variant	NM_000278.5(PAX2):c.688G>A (p.Ala230Thr)	Renal coloboma syndrome [RCV004556944]	uncertain significance	10	100806501	100806501	Human	1	name
596944466	CV3408844	single nucleotide variant	NM_000278.5(PAX2):c.842A>G (p.Lys281Arg)	Optic atrophy [RCV004817496]	uncertain significance	10	100809159	100809159	Human	2	name
407518479	CV3466695	single nucleotide variant	NM_000278.5(PAX2):c.873G>T (p.Glu291Asp)	Inborn genetic diseases [RCV004651014]\|Renal coloboma syndrome [RCV005220980]	uncertain significance	10	100809190	100809190	Human	2	name
407518481	CV3466696	single nucleotide variant	NM_000278.5(PAX2):c.554A>G (p.Tyr185Cys)	Inborn genetic diseases [RCV004651015]	uncertain significance	10	100781303	100781303	Human	1	name
408365357	CV3499828	single nucleotide variant	NM_000278.5(PAX2):c.331G>A (p.Ala111Thr)	not provided [RCV004721870]	pathogenic	10	100750812	100750812	Human		name
408379660	CV3507075	single nucleotide variant	NM_000278.5(PAX2):c.301G>C (p.Glu101Gln)	PAX2-related disorder [RCV004728518]	uncertain significance	10	100750782	100750782	Human		name , trait
408369337	CV3507457	single nucleotide variant	NM_000278.5(PAX2):c.799G>T (p.Glu267Ter)	PAX2-related disorder [RCV004736711]\|Renal coloboma syndrome [RCV005218272]	pathogenic	10	100809116	100809116	Human	2	name , trait
408369896	CV3516363	single nucleotide variant	NM_000278.5(PAX2):c.664G>A (p.Asp222Asn)	PAX2-related disorder [RCV004737692]	uncertain significance	10	100806477	100806477	Human		name , trait
408385654	CV3520284	single nucleotide variant	NM_000278.5(PAX2):c.889T>G (p.Ser297Ala)	not provided [RCV004760105]	uncertain significance	10	100809206	100809206	Human		name
408393619	CV3529536	single nucleotide variant	NM_000278.5(PAX2):c.352C>T (p.Leu118Phe)	Renal coloboma syndrome [RCV004776377]	uncertain significance	10	100750833	100750833	Human	1	name
597703255	CV3568371	single nucleotide variant	NM_000278.5(PAX2):c.528C>A (p.Ser176Arg)	Inborn genetic diseases [RCV004956936]	uncertain significance	10	100781277	100781277	Human	1	name
597703264	CV3568373	single nucleotide variant	NM_000278.5(PAX2):c.583C>T (p.Arg195Cys)	Inborn genetic diseases [RCV004956937]\|Renal coloboma syndrome [RCV005218362]	likely benign\|uncertain significance	10	100781332	100781332	Human	2	name
597735066	CV3724607	single nucleotide variant	NM_000278.5(PAX2):c.467C>T (p.Thr156Ile)	Renal coloboma syndrome [RCV005037396]	uncertain significance	10	100779554	100779554	Human	1	name
597735072	CV3724617	single nucleotide variant	NM_000278.5(PAX2):c.481C>T (p.Pro161Ser)	Renal coloboma syndrome [RCV005037397]	uncertain significance	10	100779568	100779568	Human	1	name
597652958	CV3724627	single nucleotide variant	NM_000278.5(PAX2):c.517C>T (p.Pro173Ser)	Renal coloboma syndrome [RCV005027051]	uncertain significance	10	100781266	100781266	Human	1	name
597735096	CV3724647	single nucleotide variant	NM_000278.5(PAX2):c.628G>A (p.Gly210Ser)	Renal coloboma syndrome [RCV005037401]	uncertain significance	10	100806441	100806441	Human	1	name
597653191	CV3724675	single nucleotide variant	NM_000278.5(PAX2):c.835G>A (p.Glu279Lys)	Renal coloboma syndrome [RCV005027080]	uncertain significance	10	100809152	100809152	Human	1	name
597735163	CV3724681	single nucleotide variant	NM_000278.5(PAX2):c.839T>C (p.Val280Ala)	Renal coloboma syndrome [RCV005037413]	uncertain significance	10	100809156	100809156	Human	1	name
597735181	CV3724687	single nucleotide variant	NM_000278.5(PAX2):c.845C>A (p.Ser282Ter)	Renal coloboma syndrome [RCV005037416]	likely pathogenic	10	100809162	100809162	Human	1	name
597653279	CV3724694	single nucleotide variant	NM_000278.5(PAX2):c.848G>T (p.Ser283Ile)	Renal coloboma syndrome [RCV005027090]	uncertain significance	10	100809165	100809165	Human	1	name
597653348	CV3724711	single nucleotide variant	NM_000278.5(PAX2):c.959C>T (p.Pro320Leu)	Renal coloboma syndrome [RCV005027098]	uncertain significance	10	100824687	100824687	Human	1	name
597834553	CV3735234	single nucleotide variant	NM_000278.5(PAX2):c.763C>T (p.Gln255Ter)	Congenital anomalies of kidney and urinary tract 1 [RCV005054967]	likely pathogenic	10	100806576	100806576	Human	1	name
597834560	CV3735236	single nucleotide variant	NM_000278.5(PAX2):c.983G>T (p.Gly328Val)	Congenital anomalies of kidney and urinary tract 1 [RCV005054969]	likely pathogenic	10	100824711	100824711	Human	1	name
597841652	CV3735237	single nucleotide variant	NM_000278.5(PAX2):c.344G>C (p.Arg115Pro)	Renal coloboma syndrome [RCV005054970]\|Renal coloboma syndrome [RCV005223194]	likely pathogenic\|uncertain significance	10	100750825	100750825	Human	1	name
597870277	CV3866274	single nucleotide variant	NM_000278.5(PAX2):c.865A>G (p.Asn289Asp)	Renal coloboma syndrome [RCV005215615]	uncertain significance	10	100809182	100809182	Human	1	name
597923753	CV3867460	single nucleotide variant	NM_000278.5(PAX2):c.361G>T (p.Glu121Ter)	Renal coloboma syndrome [RCV005223886]	pathogenic	10	100750842	100750842	Human	1	name
597891782	CV3867948	single nucleotide variant	NM_000278.5(PAX2):c.997T>C (p.Ser333Pro)	Renal coloboma syndrome [RCV005218976]	uncertain significance	10	100824725	100824725	Human	1	name
597892807	CV3868075	single nucleotide variant	NM_000278.5(PAX2):c.868C>T (p.Pro290Ser)	Renal coloboma syndrome [RCV005219104]	uncertain significance	10	100809185	100809185	Human	1	name
597908148	CV3870428	single nucleotide variant	NM_000278.5(PAX2):c.717A>C (p.Glu239Asp)	Renal coloboma syndrome [RCV005221479]	uncertain significance	10	100806530	100806530	Human	1	name
597851789	CV3873434	single nucleotide variant	NM_000278.5(PAX2):c.382A>G (p.Thr128Ala)	Renal coloboma syndrome [RCV005212877]	uncertain significance	10	100750863	100750863	Human	1	name
597886695	CV3876398	single nucleotide variant	NM_000278.5(PAX2):c.392G>A (p.Ser131Asn)	Renal coloboma syndrome [RCV005218144]	uncertain significance	10	100750873	100750873	Human	1	name
597849242	CV3876822	single nucleotide variant	NM_000278.5(PAX2):c.349C>T (p.Arg117Trp)	Renal coloboma syndrome [RCV005228048]	uncertain significance	10	100750830	100750830	Human	1	name
598227939	CV3896065	deletion	NM_000278.5(PAX2):c.1158del (p.Ala387fs)	Focal segmental glomerulosclerosis 7 [RCV005362316]	uncertain significance	10	100827592	100827592	Human	1	name
598244919	CV4002248	single nucleotide variant	NM_000278.5(PAX2):c.793G>T (p.Gly265Trp)	Inborn genetic diseases [RCV005383805]	uncertain significance	10	100809110	100809110	Human	1	name
616938749	CV4015804	single nucleotide variant	NM_000278.5(PAX2):c.906C>G (p.Tyr302Ter)	Renal coloboma syndrome [RCV005414356]	pathogenic	10	100809223	100809223	Human	1	name
617152424	CV4018078	single nucleotide variant	NM_000278.5(PAX2):c.775C>T (p.His259Tyr)	not specified [RCV005417868]	uncertain significance	10	100806588	100806588	Human		name
12900293	CV407801	single nucleotide variant	NM_000278.5(PAX2):c.641A>G (p.Asn214Ser)	Inborn genetic diseases [RCV003243144]\|Renal coloboma syndrome [RCV001865489]\|not provided [RCV000482076]	uncertain significance	10	100806454	100806454	Human	2	name
13531199	CV511851	single nucleotide variant	NM_000278.5(PAX2):c.890C>G (p.Ser297Ter)	Inborn genetic diseases [RCV000623124]	pathogenic	10	100809207	100809207	Human	1	name
13611025	CV524875	single nucleotide variant	NM_000278.5(PAX2):c.740G>A (p.Arg247His)	Renal coloboma syndrome [RCV000641654]	uncertain significance	10	100806553	100806553	Human	1	name
13611027	CV525106	single nucleotide variant	NM_000278.5(PAX2):c.867C>G (p.Asn289Lys)	Inborn genetic diseases [RCV002530004]\|PAX2-related disorder [RCV004533353]\|Renal coloboma syndrome [RCV000641655]\|not provided [RCV004707390]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	10	100809184	100809184	Human	3	name , trait
13799189	CV553607	single nucleotide variant	NM_000278.5(PAX2):c.433C>T (p.Gln145Ter)	not provided [RCV000681899]	likely pathogenic	10	100779520	100779520	Human		name
13812656	CV569426	single nucleotide variant	NM_000278.5(PAX2):c.478G>A (p.Ala160Thr)	Renal coloboma syndrome [RCV000689597]\|not provided [RCV003133524]	uncertain significance	10	100779565	100779565	Human	1	name
14711865	CV650386	single nucleotide variant	NM_000278.5(PAX2):c.350G>C (p.Arg117Pro)	Renal coloboma syndrome [RCV000819096]	uncertain significance	10	100750831	100750831	Human	1	name
14710106	CV650387	single nucleotide variant	NM_000278.5(PAX2):c.460G>A (p.Ala154Thr)	Renal coloboma syndrome [RCV000813703]	uncertain significance	10	100779547	100779547	Human	1	name
26895005	CV836512	single nucleotide variant	NM_000278.5(PAX2):c.563A>G (p.Asn188Ser)	Focal segmental glomerulosclerosis 7 [RCV001253271]\|Renal coloboma syndrome [RCV001069506]\|Renal coloboma syndrome [RCV001196043]	uncertain significance	10	100781312	100781312	Human	2	name
28909044	CV859776	single nucleotide variant	NM_000278.5(PAX2):c.538G>A (p.Asp180Asn)	Renal coloboma syndrome [RCV001856280]\|not provided [RCV001093421]	uncertain significance	10	100781287	100781287	Human	1	name
28889143	CV903495	single nucleotide variant	NM_000278.5(PAX2):c.419G>T (p.Arg140Leu)	Renal coloboma syndrome [RCV001169839]	likely pathogenic	10	100779506	100779506	Human	1	name
41407954	CV962725	single nucleotide variant	NM_000278.5(PAX2):c.343C>T (p.Arg115Ter)	Renal coloboma syndrome [RCV001281257]\|Renal coloboma syndrome [RCV002499441]\|not provided [RCV001702888]	pathogenic	10	100750824	100750824	Human	1	name
40888379	CV971440	single nucleotide variant	NM_000278.5(PAX2):c.794G>A (p.Gly265Glu)	Renal coloboma syndrome [RCV001880055]\|Renal coloboma syndrome [RCV004799481]	uncertain significance	10	100809111	100809111	Human	1	name
126745634	CV976117	single nucleotide variant	NM_000278.5(PAX2):c.388C>T (p.Pro130Ser)	Nephrotic syndrome [RCV001328164]	likely pathogenic	10	100750869	100750869	Human	2	name
126733987	CV993641	single nucleotide variant	NM_000278.5(PAX2):c.356T>C (p.Leu119Pro)	Renal coloboma syndrome [RCV001294837]	uncertain significance	10	100750837	100750837	Human	1	name
126750190	CV1029386	single nucleotide variant	NM_000278.5(PAX2):c.1029G>C (p.Glu343Asp)	Renal coloboma syndrome [RCV001352200]	uncertain significance	10	100827016	100827016	Human	1	name
127274309	CV1065672	single nucleotide variant	NM_000278.5(PAX2):c.1058A>C (p.Gln353Pro)	PAX2-related disorder [RCV004545224]\|Renal coloboma syndrome [RCV001391112]\|Renal coloboma syndrome [RCV002551582]	likely pathogenic\|likely benign\|no classifications from unflagged records	10	100827045	100827045	Human	2	name , trait
151755483	CV1387821	single nucleotide variant	NM_000278.5(PAX2):c.1070A>G (p.Tyr357Cys)	Renal coloboma syndrome [RCV001969626]	uncertain significance	10	100827057	100827057	Human	1	name
9684262	CV167528	single nucleotide variant	NM_000278.5(PAX2):c.1091G>A (p.Ser364Asn)	Renal coloboma syndrome [RCV000144975]\|Renal coloboma syndrome [RCV001849974]	uncertain significance\|not provided	10	100827078	100827078	Human	1	name
155992318	CV2063810	single nucleotide variant	NM_000278.5(PAX2):c.1022G>T (p.Gly341Val)	Renal coloboma syndrome [RCV002843014]	uncertain significance	10	100827009	100827009	Human	1	name
156230894	CV2140984	single nucleotide variant	NM_000278.5(PAX2):c.1087T>G (p.Phe363Val)	Renal coloboma syndrome [RCV003007737]	uncertain significance	10	100827074	100827074	Human	1	name
156129350	CV2185887	single nucleotide variant	NM_000278.5(PAX2):c.1001C>A (p.Thr334Asn)	Renal coloboma syndrome [RCV003055779]	uncertain significance	10	100824729	100824729	Human	1	name
8654653	CV28835	duplication	NM_003990.3(PAX2):c.71dupG (p.Val26Glyfs)	Renal coloboma syndrome [RCV000014806]	pathogenic	10	100749772	100749773	Human		name
405774529	CV3374809	single nucleotide variant	NM_000278.5(PAX2):c.1096C>T (p.Pro366Ser)	Inborn genetic diseases [RCV004502868]\|Renal coloboma syndrome [RCV005220905]	likely benign\|uncertain significance	10	100827083	100827083	Human	2	name
408386936	CV3524303	single nucleotide variant	NM_000278.5(PAX2):c.1157C>A (p.Ala386Asp)	not provided [RCV004768177]	uncertain significance	10	100827591	100827591	Human		name
597653446	CV3724731	single nucleotide variant	NM_000278.5(PAX2):c.1075G>C (p.Glu359Gln)	Renal coloboma syndrome [RCV005027109]	uncertain significance	10	100827062	100827062	Human	1	name
597653526	CV3724745	single nucleotide variant	NM_000278.5(PAX2):c.1181A>C (p.His394Pro)	Renal coloboma syndrome [RCV005027118]	likely benign	10	100827615	100827615	Human	1	name
597655219	CV3731463	single nucleotide variant	NM_000278.5(PAX2):c.1108A>T (p.Ser370Cys)	not provided [RCV005001644]	uncertain significance	10	100827095	100827095	Human		name
598203260	CV3892871	single nucleotide variant	NM_000278.5(PAX2):c.1014G>A (p.Met338Ile)	not provided [RCV005255201]	uncertain significance	10	100824742	100824742	Human		name
25314945	CV818275	single nucleotide variant	NM_000278.5(PAX2):c.1049G>C (p.Ser350Thr)	Focal segmental glomerulosclerosis 7 [RCV001029916]	uncertain significance	10	100827036	100827036	Human	1	name
8633464	CV88679	single nucleotide variant	NM_003990.3(PAX2):c.1067C>T (p.Ser356Phe)	Malignant melanoma [RCV000068772]	not provided	10	100824726	100824726	Human		name
11542455	CV213938	microsatellite	NM_000278.5(PAX2):c.119_120del (p.Arg40fs)	not provided [RCV000240627]	pathogenic	10	100749819	100749820	Human		name
11542454	CV213940	duplication	NM_000278.5(PAX2):c.223_224dup (p.Gly76fs)	not provided [RCV000240626]	pathogenic	10	100750703	100750704	Human		name
8599571	CV28836	deletion	NM_000278.5(PAX2):c.131_152del (p.Leu44fs)	Renal coloboma syndrome [RCV000014808]	pathogenic	10	100749832	100749853	Human	1	name
405108237	CV3112270	deletion	NM_000278.5(PAX2):c.117_121del (p.Gln39fs)	Renal coloboma syndrome [RCV003813113]	pathogenic	10	100749816	100749820	Human	1	name
597834566	CV3735239	duplication	NM_000278.5(PAX2):c.223_226dup (p.Gly76fs)	Focal segmental glomerulosclerosis 7 [RCV005054972]	pathogenic	10	100750702	100750703	Human	1	name
12893398	CV407799	duplication	NM_000278.5(PAX2):c.240_244dup (p.Val82fs)	not provided [RCV000478874]	pathogenic	10	100750720	100750721	Human		name
152999255	CV1679702	microsatellite	NM_000278.5(PAX2):c.841_845del (p.Lys281fs)	Renal coloboma syndrome [RCV002251091]	likely pathogenic	10	100809153	100809157	Human		name
405867335	CV2842794	microsatellite	NM_000278.5(PAX2):c.383_384del (p.Thr128fs)	Focal segmental glomerulosclerosis 7 [RCV004577597]	pathogenic	10	100750861	100750862	Human		name
405852296	CV3395889	duplication	NM_000278.5(PAX2):c.311_317dup (p.Asn106fs)	Renal coloboma syndrome [RCV004556908]	likely pathogenic	10	100750791	100750792	Human	1	name
408385405	CV3520180	deletion	NM_000278.5(PAX2):c.937_938del (p.Thr313fs)	not provided [RCV004760001]	uncertain significance	10	100824664	100824665	Human		name
598217670	CV3891480	duplication	NM_000278.5(PAX2):c.725_728dup (p.Val244fs)	Focal segmental glomerulosclerosis 7 [RCV005252322]	likely pathogenic	10	100806536	100806537	Human	1	name
598194924	CV4002249	microsatellite	NM_000278.5(PAX2):c.898_899dup (p.Gln300fs)	Inborn genetic diseases [RCV005397453]	pathogenic	10	100809210	100809211	Human		name
616938748	CV4015803	deletion	NM_000278.5(PAX2):c.629_644del (p.Gly210fs)	Renal coloboma syndrome [RCV005414355]	pathogenic	10	100806440	100806455	Human	1	name
616938804	CV4015870	deletion	NM_000278.5(PAX2):c.892_895del (p.Gly298fs)	Renal coloboma syndrome [RCV005414422]	likely pathogenic	10	100809207	100809210	Human	1	name
25317976	CV805628	duplication	NM_000278.5(PAX2):c.364_365dup (p.Ile123fs)	not provided [RCV001008344]	pathogenic	10	100750843	100750844	Human		name
156449675	CV1941939	inversion	NM_000278.5(PAX2):c.797_798inv (p.Asn266Ser)	Renal coloboma syndrome [RCV003121801]	uncertain significance	10	100809114	100809115	Human		name
597735265	CV3724716	indel	NM_000278.5(PAX2):c.961delinsTA (p.His321Ter)	Renal coloboma syndrome [RCV005037428]	likely pathogenic	10	100824689	100824689	Human		name
12741894	CV360915	deletion	NM_003990.3(PAX2):c.213-1_225delGGTACTACGAGACC	Renal cyst [RCV000415347]	likely pathogenic	10	100750693	100750706	Human	2	name
155644681	CV1708746	insertion	NM_000278.5(PAX2):c.389_390insTGCT (p.Ser131fs)	Congenital ocular coloboma [RCV002291342]	pathogenic	10	100750870	100750871	Human	1	name
597834550	CV3735233	indel	NM_000278.5(PAX2):c.535_546delinsT (p.Asn179fs)	Renal coloboma syndrome [RCV005054966]	likely pathogenic	10	100781284	100781295	Human		name
408371365	CV3504959	indel	NM_000278.5(PAX2):c.740_767delinsCG (p.Arg247fs)	PAX2-related disorder [RCV004724560]	likely pathogenic	10	100806553	100806580	Human		name , trait
9589255	CV166070	deletion	NM_000278.5(PAX2):c.115_120del (p.Gln39_Arg40del)	not provided [RCV000144374]	not provided	10	100749817	100749822	Human		name
156409399	CV1874124	variation	NM_000278.5(PAX2):c.1140_1142= (p.Arg380_Gly381=)	Renal coloboma syndrome [RCV003071657]	benign	10	100827574	100827576	Human		name
401908827	CV2796963	deletion	NM_000278.5(PAX2):c.221_226del (p.Glu74_Thr75del)	PAX2-related disorder [RCV004528660]	uncertain significance	10	100750700	100750705	Human		name , trait
8563882	CV28839	duplication	NM_000278.5(PAX2):c.221_226dup (p.Glu74_Thr75dup)	Renal coloboma syndrome [RCV000014811]\|Renal coloboma syndrome [RCV001377629]	pathogenic\|likely pathogenic	10	100750699	100750700	Human	1	name
408386718	CV3524194	deletion	NM_000278.5(PAX2):c.274_288del (p.Thr92_Val96del)	Renal coloboma syndrome [RCV005221049]\|not provided [RCV004768068]	uncertain significance	10	100750754	100750768	Human	1	name
156086625	CV2080073	deletion	NM_000278.5(PAX2):c.221_223del (p.Glu74_Thr75delinsAla)	Renal coloboma syndrome [RCV002847566]	uncertain significance	10	100750702	100750704	Human	1	name
152038398	CV1669267	indel	NM_000278.5(PAX2):c.320_342delinsGGCTCCTGGC (p.Pro107fs)	not provided [RCV002224319]	likely pathogenic	10	100750801	100750823	Human		name
41407955	CV962726	indel	NM_000278.5(PAX2):c.493_495delinsTCTTCCCTGA (p.Ile165fs)	Renal coloboma syndrome [RCV001281258]	pathogenic	10	100779580	100779582	Human		name
9589256	CV166071	insertion	NM_003990.5(PAX2):c.231_232insCGGCAG (p.Ile78_Lys79insArgGln)	not provided [RCV000144375]	not provided	10	100750712	100750713	Human		name
597834563	CV3735238	duplication	NM_000278.5(PAX2):c.361_373dup (p.Asp125delinsGlyGlyHisLeuTer)	Renal coloboma syndrome [RCV005054971]	likely pathogenic	10	100750841	100750842	Human	1	name
598227942	CV3896066	microsatellite	NM_000278.5(PAX2):c.1152TGCCGCTGC[3] (p.Ala390_Tyr391insAlaAlaAla)	Focal segmental glomerulosclerosis 7 [RCV005362317]	likely benign	10	100827584	100827585	Human		name
155796294	CV1861770	deletion	NC_000010.10:g.(?_102505467)_(102510649_102539254)del	PAX2-related disorder [RCV004529147]	likely pathogenic				Human		trait
405281480	CV3224152	deletion	NC_000010.10:g.(?_102505338)_(102510649_102539254)del	PAX2-related disorder [RCV004544208]	pathogenic				Human		trait

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