Glis2 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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321 records found for search term Glis2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8556700	CV17252	single nucleotide variant	GLIS2, IVS5DS, G-T, +1	Nephronophthisis 7 [RCV000002297]	pathogenic				Human		name
10049578	CV190631	single nucleotide variant	NM_032575.3(GLIS2):c.-9C>G	not provided [RCV000173539]	uncertain significance	16	4332272	4332272	Human		name
11624404	CV342958	single nucleotide variant	NM_032575.3(GLIS2):c.*2C>T	Nephronophthisis 7 [RCV000385893]	uncertain significance	16	4337526	4337526	Human	1	name
11549462	CV255741	single nucleotide variant	NM_032575.3(GLIS2):c.-11G>A	Nephronophthisis 7 [RCV000356057]\|not provided [RCV001689923]\|not specified [RCV000250455]	benign\|likely benign	16	4332270	4332270	Human	1	name
11614705	CV334996	single nucleotide variant	NM_032575.3(GLIS2):c.*54C>T	Nephronophthisis 7 [RCV000279042]	likely benign\|uncertain significance	16	4337578	4337578	Human	1	name
11615071	CV342959	single nucleotide variant	NM_032575.3(GLIS2):c.*12G>A	Nephronophthisis 7 [RCV000282184]	uncertain significance	16	4337536	4337536	Human	1	name
11618838	CV342962	single nucleotide variant	NM_032575.3(GLIS2):c.*23G>A	Nephronophthisis 7 [RCV000318575]	likely benign\|uncertain significance	16	4337547	4337547	Human	1	name
11623457	CV342965	single nucleotide variant	NM_032575.3(GLIS2):c.*43G>A	Nephronophthisis 7 [RCV000373262]	uncertain significance	16	4337567	4337567	Human	1	name
11653982	CV325338	single nucleotide variant	NM_032575.3(GLIS2):c.*611G>A	Nephronophthisis 7 [RCV000314455]	uncertain significance	16	4338135	4338135	Human	1	name
11612759	CV325342	single nucleotide variant	NM_032575.3(GLIS2):c.*796G>C	Nephronophthisis 7 [RCV000262468]	likely benign\|uncertain significance	16	4338320	4338320	Human	1	name
11623373	CV334999	single nucleotide variant	NM_032575.3(GLIS2):c.*881C>T	Nephronophthisis 7 [RCV000372214]	uncertain significance	16	4338405	4338405	Human	1	name
11649407	CV335008	single nucleotide variant	NM_032575.3(GLIS2):c.*887G>C	Nephronophthisis [RCV000286966]	uncertain significance	16	4338411	4338411	Human	2	name
11621018	CV341462	single nucleotide variant	NM_032575.3(GLIS2):c.*173G>A	Nephronophthisis 7 [RCV000343359]\|not provided [RCV001653562]	benign\|likely benign	16	4337697	4337697	Human	1	name
11625148	CV341465	single nucleotide variant	NM_032575.3(GLIS2):c.*232T>G	Nephronophthisis 7 [RCV000395371]\|not provided [RCV001562071]	benign\|likely benign	16	4337756	4337756	Human	1	name
11617999	CV341466	single nucleotide variant	NM_032575.3(GLIS2):c.*437A>C	Nephronophthisis 7 [RCV000309719]	uncertain significance	16	4337961	4337961	Human	1	name
11662862	CV341472	single nucleotide variant	NM_032575.3(GLIS2):c.*551C>G	Nephronophthisis 7 [RCV000390222]	uncertain significance	16	4338075	4338075	Human	1	name
11623133	CV341474	single nucleotide variant	NM_032575.3(GLIS2):c.*614G>A	Nephronophthisis 7 [RCV000369161]\|not provided [RCV004715079]	benign	16	4338138	4338138	Human	1	name
11647250	CV341475	single nucleotide variant	NM_032575.3(GLIS2):c.*632G>A	Nephronophthisis 7 [RCV000275539]	uncertain significance	16	4338156	4338156	Human	1	name
11656046	CV341477	single nucleotide variant	NM_032575.3(GLIS2):c.*712C>G	Nephronophthisis 7 [RCV000330596]	uncertain significance	16	4338236	4338236	Human	1	name
11622164	CV341478	single nucleotide variant	NM_032575.3(GLIS2):c.*762C>T	Nephronophthisis 7 [RCV000357341]	uncertain significance	16	4338286	4338286	Human	1	name
11654431	CV341480	single nucleotide variant	NM_032575.3(GLIS2):c.*856C>T	Nephronophthisis 7 [RCV000317699]	uncertain significance	16	4338380	4338380	Human	1	name
11615330	CV342971	single nucleotide variant	NM_032575.3(GLIS2):c.*278C>T	Nephronophthisis 7 [RCV000284844]	benign\|uncertain significance	16	4337802	4337802	Human	1	name
11625123	CV342972	single nucleotide variant	NM_032575.3(GLIS2):c.*399T>G	Nephronophthisis 7 [RCV000395139]	likely benign\|uncertain significance	16	4337923	4337923	Human	1	name
11660114	CV342974	single nucleotide variant	NM_032575.3(GLIS2):c.*525C>T	Nephronophthisis 7 [RCV000364329]	uncertain significance	16	4338049	4338049	Human	1	name
11619251	CV342978	single nucleotide variant	NM_032575.3(GLIS2):c.*916G>A	Nephronophthisis 7 [RCV000323418]\|not provided [RCV004694266]	uncertain significance	16	4338440	4338440	Human	1	name
28884265	CV875271	single nucleotide variant	NM_032575.3(GLIS2):c.*125G>A	Nephronophthisis 7 [RCV001118688]	uncertain significance	16	4337649	4337649	Human	1	name
28890503	CV875272	single nucleotide variant	NM_032575.3(GLIS2):c.*199G>A	Nephronophthisis 7 [RCV001120637]	uncertain significance	16	4337723	4337723	Human	1	name
28890506	CV875273	single nucleotide variant	NM_032575.3(GLIS2):c.*204G>A	Nephronophthisis 7 [RCV001120638]	uncertain significance	16	4337728	4337728	Human	1	name
28890509	CV875274	single nucleotide variant	NM_032575.3(GLIS2):c.*516C>T	Nephronophthisis 7 [RCV001120639]	uncertain significance	16	4338040	4338040	Human	1	name
28875063	CV875275	single nucleotide variant	NM_032575.3(GLIS2):c.*663C>G	Nephronophthisis 7 [RCV001115722]	uncertain significance	16	4338187	4338187	Human	1	name
28875065	CV875276	single nucleotide variant	NM_032575.3(GLIS2):c.*757G>A	Nephronophthisis 7 [RCV001115723]	uncertain significance	16	4338281	4338281	Human	1	name
28879210	CV875277	single nucleotide variant	NM_032575.3(GLIS2):c.*849G>C	Nephronophthisis 7 [RCV001117145]	uncertain significance	16	4338373	4338373	Human	1	name
28879215	CV875278	single nucleotide variant	NM_032575.3(GLIS2):c.*874C>G	Nephronophthisis 7 [RCV001117146]	likely benign	16	4338398	4338398	Human	1	name
28879219	CV875279	single nucleotide variant	NM_032575.3(GLIS2):c.*902C>T	Nephronophthisis 7 [RCV001117147]	uncertain significance	16	4338426	4338426	Human	1	name
152081800	CV1551760	single nucleotide variant	NM_032575.3(GLIS2):c.346-9G>A	Nephronophthisis [RCV002092945]	likely benign	16	4334792	4334792	Human	2	name
11350525	CV243911	single nucleotide variant	NM_032575.3(GLIS2):c.775+1G>T	GLIS2-related disorder [RCV004755825]\|Nephronophthisis 7 [RCV001824027]\|Nephronophthisis [RCV000234831]	pathogenic\|no classifications from unflagged records\|not provided	16	4335394	4335394	Human	4	name , trait , alternate_id
405283027	CV3218382	single nucleotide variant	NM_032575.3(GLIS2):c.656+8G>C	GLIS2-related disorder [RCV003957194]	likely benign	16	4335201	4335201	Human		name , trait , alternate_id
405753926	CV3251813	single nucleotide variant	NM_032575.3(GLIS2):c.523-2A>G	not specified [RCV004393160]	uncertain significance	16	4335058	4335058	Human		name
11648689	CV325346	single nucleotide variant	NM_032575.3(GLIS2):c.*1082G>A	Nephronophthisis 7 [RCV000283307]	uncertain significance	16	4338606	4338606	Human	1	name
11618267	CV325354	single nucleotide variant	NM_032575.3(GLIS2):c.*1465G>A	Nephronophthisis 7 [RCV000312399]	uncertain significance	16	4338989	4338989	Human	1	name
11615839	CV335020	single nucleotide variant	NM_032575.3(GLIS2):c.*1176C>T	Nephronophthisis 7 [RCV000289350]	benign\|uncertain significance	16	4338700	4338700	Human	1	name
11621744	CV335021	single nucleotide variant	NM_032575.3(GLIS2):c.*1203C>G	Kidney disorder [RCV002294271]\|Nephronophthisis 7 [RCV000352123]\|not provided [RCV004703693]	likely benign\|uncertain significance	16	4338727	4338727	Human	3	name
11663965	CV335027	single nucleotide variant	NM_032575.3(GLIS2):c.*1628C>G	Nephronophthisis 7 [RCV000401285]	uncertain significance	16	4339152	4339152	Human	1	name
11617515	CV335030	single nucleotide variant	NM_032575.3(GLIS2):c.*1826C>T	Nephronophthisis 7 [RCV000305056]\|not provided [RCV004694267]	uncertain significance	16	4339350	4339350	Human	1	name
11622388	CV335031	single nucleotide variant	NM_032575.3(GLIS2):c.*1830C>T	Nephronophthisis 7 [RCV000359837]	uncertain significance	16	4339354	4339354	Human	1	name
11661575	CV341482	single nucleotide variant	NM_032575.3(GLIS2):c.*1046G>C	Nephronophthisis 7 [RCV000378017]	uncertain significance	16	4338570	4338570	Human	1	name
11624233	CV341484	single nucleotide variant	NM_032575.3(GLIS2):c.*1161G>A	Nephronophthisis 7 [RCV000383635]	uncertain significance	16	4338685	4338685	Human	1	name
11651518	CV341486	single nucleotide variant	NM_032575.3(GLIS2):c.*1700G>A	Nephronophthisis 7 [RCV000299624]	uncertain significance	16	4339224	4339224	Human	1	name
11621950	CV341487	single nucleotide variant	NM_032575.3(GLIS2):c.*1761C>T	Nephronophthisis 7 [RCV000354590]	uncertain significance	16	4339285	4339285	Human	1	name
11621347	CV342980	single nucleotide variant	NM_032575.3(GLIS2):c.*1130G>A	Nephronophthisis 7 [RCV000347690]\|not provided [RCV004715080]	benign\|uncertain significance	16	4338654	4338654	Human	1	name
11624974	CV342981	single nucleotide variant	NM_032575.3(GLIS2):c.*1333C>G	Nephronophthisis 7 [RCV000393422]\|not provided [RCV004715961]	benign\|likely benign	16	4338857	4338857	Human	1	name
11658369	CV342982	deletion	NM_032575.3(GLIS2):c.*1583del	Nephronophthisis [RCV000348586]	uncertain significance	16	4339107	4339107	Human	2	name
11644355	CV342983	single nucleotide variant	NM_032575.3(GLIS2):c.*1791T>C	Nephronophthisis 7 [RCV000259767]	uncertain significance	16	4339315	4339315	Human	1	name
11613109	CV342985	single nucleotide variant	NM_032575.3(GLIS2):c.*1988A>G	Nephronophthisis 7 [RCV000265636]	uncertain significance	16	4339512	4339512	Human	1	name
597749348	CV3708817	single nucleotide variant	NM_032575.3(GLIS2):c.776-1G>A	Nephronophthisis 7 [RCV005015473]	uncertain significance	16	4336724	4336724	Human	1	name
28884582	CV875280	single nucleotide variant	NM_032575.3(GLIS2):c.*1095G>A	Nephronophthisis 7 [RCV001118784]	uncertain significance	16	4338619	4338619	Human	1	name
28884585	CV875281	single nucleotide variant	NM_032575.3(GLIS2):c.*1150C>T	Nephronophthisis 7 [RCV001118785]	uncertain significance	16	4338674	4338674	Human	1	name
28884590	CV875282	single nucleotide variant	NM_032575.3(GLIS2):c.*1319A>G	Nephronophthisis 7 [RCV001118786]	uncertain significance	16	4338843	4338843	Human	1	name
28890771	CV875283	single nucleotide variant	NM_032575.3(GLIS2):c.*1553G>A	Nephronophthisis 7 [RCV001120731]	uncertain significance	16	4339077	4339077	Human	1	name
28890775	CV875284	single nucleotide variant	NM_032575.3(GLIS2):c.*1710C>A	Nephronophthisis 7 [RCV001120732]	uncertain significance	16	4339234	4339234	Human	1	name
28875220	CV875285	single nucleotide variant	NM_032575.3(GLIS2):c.*1911G>C	Nephronophthisis 7 [RCV001115802]	uncertain significance	16	4339435	4339435	Human	1	name
28875222	CV875286	single nucleotide variant	NM_032575.3(GLIS2):c.*1931C>G	Nephronophthisis 7 [RCV001115803]	uncertain significance	16	4339455	4339455	Human	1	name
28875226	CV875287	single nucleotide variant	NM_032575.3(GLIS2):c.*1998C>G	Nephronophthisis 7 [RCV001115804]	uncertain significance	16	4339522	4339522	Human	1	name
28875229	CV875288	single nucleotide variant	NM_032575.3(GLIS2):c.*2021C>T	Nephronophthisis 7 [RCV001115805]	uncertain significance	16	4339545	4339545	Human	1	name
28875232	CV875289	single nucleotide variant	NM_032575.3(GLIS2):c.*2058G>A	Nephronophthisis 7 [RCV001115806]	uncertain significance	16	4339582	4339582	Human	1	name
28878601	CV876668	single nucleotide variant	NM_032575.3(GLIS2):c.346-4C>G	Nephronophthisis 7 [RCV001116958]	uncertain significance	16	4334797	4334797	Human	1	name
28878610	CV876669	single nucleotide variant	NM_032575.3(GLIS2):c.523-9C>T	Nephronophthisis 7 [RCV001116961]	uncertain significance	16	4335051	4335051	Human	1	name
150435938	CV1270884	single nucleotide variant	NM_032575.3(GLIS2):c.776-85G>A	not provided [RCV001689434]	benign	16	4336640	4336640	Human		name
152041441	CV1537740	single nucleotide variant	NM_032575.3(GLIS2):c.657-16G>A	Nephronophthisis [RCV002165743]	likely benign	16	4335259	4335259	Human	2	name
156411844	CV1894018	single nucleotide variant	NM_032575.3(GLIS2):c.172+14G>A	Nephronophthisis [RCV003072650]	likely benign	16	4332466	4332466	Human	2	name
156034237	CV1921281	single nucleotide variant	NM_032575.3(GLIS2):c.173-17C>G	Nephronophthisis [RCV002619984]	likely benign	16	4333330	4333330	Human	2	name
10051653	CV193730	single nucleotide variant	NM_032575.3(GLIS2):c.522+10G>A	Nephronophthisis [RCV001431810]\|not provided [RCV000177391]	likely benign\|uncertain significance	16	4334987	4334987	Human	2	name
156021910	CV2105779	single nucleotide variant	NM_032575.3(GLIS2):c.523-20A>T	Nephronophthisis [RCV002923105]	benign	16	4335040	4335040	Human	2	name
156028323	CV2109070	single nucleotide variant	NM_032575.3(GLIS2):c.657-17C>T	Nephronophthisis [RCV002909947]	benign	16	4335258	4335258	Human	2	name
156291708	CV2111435	single nucleotide variant	NM_032575.3(GLIS2):c.775+16C>T	Nephronophthisis [RCV002922179]	likely benign	16	4335409	4335409	Human	2	name
156032642	CV2132715	single nucleotide variant	NM_032575.3(GLIS2):c.522+11G>A	Nephronophthisis [RCV002999207]	likely benign	16	4334988	4334988	Human	2	name
11546485	CV255743	single nucleotide variant	NM_032575.3(GLIS2):c.775+20C>T	Nephronophthisis 7 [RCV002500924]\|Nephronophthisis [RCV002058376]\|not specified [RCV000246525]	benign	16	4335413	4335413	Human	3	name
405168071	CV2887344	single nucleotide variant	NM_032575.3(GLIS2):c.776-20T>G	Nephronophthisis [RCV003587333]	likely benign	16	4336705	4336705	Human	2	name
405173994	CV2911508	single nucleotide variant	NM_032575.3(GLIS2):c.173-16T>C	Nephronophthisis [RCV003587904]	benign	16	4333331	4333331	Human	2	name
405101836	CV3065259	single nucleotide variant	NM_032575.3(GLIS2):c.346-18C>T	Nephronophthisis [RCV003748992]	likely benign	16	4334783	4334783	Human	2	name
150428095	CV1188362	single nucleotide variant	NM_032575.3(GLIS2):c.346-192C>T	not provided [RCV001561805]	likely benign	16	4334609	4334609	Human		name
150514577	CV1212059	single nucleotide variant	NM_032575.3(GLIS2):c.172+154T>G	not provided [RCV001599128]	benign	16	4332606	4332606	Human		name
150468177	CV1241002	single nucleotide variant	NM_032575.3(GLIS2):c.-66-151T>C	not provided [RCV001650460]	benign	16	4332064	4332064	Human		name
150446295	CV1250647	single nucleotide variant	NM_032575.3(GLIS2):c.776-202G>A	not provided [RCV001667151]	benign	16	4336523	4336523	Human		name
150498109	CV1256820	single nucleotide variant	NM_032575.3(GLIS2):c.172+200G>T	not provided [RCV001676313]	benign	16	4332652	4332652	Human		name
11620694	CV325337	microsatellite	NM_032575.3(GLIS2):c.*291TCC[1]	Nephronophthisis [RCV000340049]	uncertain significance	16	4337813	4337815	Human		name
405136802	CV3115774	microsatellite	NM_032575.3(GLIS2):c.656+12GA[2]	Nephronophthisis [RCV003816431]	likely benign	16	4335205	4335206	Human		name
10049579	CV190632	single nucleotide variant	NM_032575.3(GLIS2):c.15C>T (p.Asp5=)	GLIS2-related disorder [RCV003927587]\|not provided [RCV000173540]	likely benign\|uncertain significance	16	4332295	4332295	Human	1	name , trait , alternate_id
13499979	CV466452	single nucleotide variant	NM_032575.3(GLIS2):c.18G>A (p.Glu6=)	Nephronophthisis [RCV000540145]	likely benign	16	4332298	4332298	Human	2	name
155914590	CV2091643	single nucleotide variant	NM_032575.3(GLIS2):c.51C>G (p.Leu17=)	Nephronophthisis [RCV002903002]	likely benign	16	4332331	4332331	Human	2	name
10405750	CV213192	single nucleotide variant	NM_032575.3(GLIS2):c.70C>A (p.Arg24=)	Nephronophthisis 7 [RCV001115535]\|Nephronophthisis [RCV000197752]\|not provided [RCV001575257]\|not specified [RCV000241918]	benign\|likely benign	16	4332350	4332350	Human	3	name
405101772	CV3064054	single nucleotide variant	NM_032575.3(GLIS2):c.57G>A (p.Ala19=)	Nephronophthisis [RCV003748904]	likely benign	16	4332337	4332337	Human	2	name
597886146	CV3854901	single nucleotide variant	NM_032575.3(GLIS2):c.81G>A (p.Thr27=)	Nephronophthisis [RCV005199747]	likely benign	16	4332361	4332361	Human	2	name
15101284	CV688600	single nucleotide variant	NM_032575.3(GLIS2):c.57G>T (p.Ala19=)	not provided [RCV000870223]	likely benign	16	4332337	4332337	Human		name
156074243	CV1955743	single nucleotide variant	NM_032575.3(GLIS2):c.165G>A (p.Pro55=)	Nephronophthisis [RCV002569702]	likely benign	16	4332445	4332445	Human	2	name
405161493	CV2867329	single nucleotide variant	NM_032575.3(GLIS2):c.126G>A (p.Leu42=)	Nephronophthisis [RCV003586773]	likely benign	16	4332406	4332406	Human	2	name
405102654	CV2967769	single nucleotide variant	NM_032575.3(GLIS2):c.255A>G (p.Pro85=)	Nephronophthisis [RCV003749387]	likely benign	16	4333429	4333429	Human	2	name
405253221	CV3052739	single nucleotide variant	NM_032575.3(GLIS2):c.129G>A (p.Val43=)	Nephronophthisis [RCV003748844]	likely benign	16	4332409	4332409	Human	2	name
404978141	CV3127274	single nucleotide variant	NM_032575.3(GLIS2):c.195C>T (p.Phe65=)	Nephronophthisis [RCV003825498]	likely benign	16	4333369	4333369	Human	2	name
11613273	CV334969	single nucleotide variant	NM_032575.3(GLIS2):c.291G>A (p.Ser97=)	Nephronophthisis 7 [RCV000267112]\|Nephronophthisis [RCV005090476]\|not specified [RCV004927623]	likely benign\|uncertain significance	16	4333465	4333465	Human	3	name
11651199	CV342953	single nucleotide variant	NM_032575.3(GLIS2):c.210G>A (p.Glu70=)	Nephronophthisis 7 [RCV000297683]	uncertain significance	16	4333384	4333384	Human	1	name
597729131	CV3681373	single nucleotide variant	NM_032575.3(GLIS2):c.198C>T (p.Pro66=)	not specified [RCV004919668]	likely benign	16	4333372	4333372	Human		name
38598582	CV693874	single nucleotide variant	NM_032575.3(GLIS2):c.234C>G (p.Leu78=)	Nephronophthisis 7 [RCV002480869]\|Nephronophthisis [RCV005208730]	likely benign	16	4333408	4333408	Human	3	name
8643135	CV102118	single nucleotide variant	NM_032575.3(GLIS2):c.864T>C (p.Tyr288=)	Nephronophthisis 7 [RCV001094421]\|Nephronophthisis [RCV000287800]\|not provided [RCV001705785]\|not specified [RCV000082303]	benign	16	4336813	4336813	Human	3	name
8643136	CV102119	single nucleotide variant	NM_032575.3(GLIS2):c.894C>T (p.Pro298=)	Nephronophthisis 7 [RCV001094422]\|Nephronophthisis [RCV000352028]\|not specified [RCV000082304]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	4336843	4336843	Human	3	name
152062309	CV1558509	single nucleotide variant	NM_032575.3(GLIS2):c.765G>A (p.Arg255=)	Nephronophthisis [RCV002128484]	likely benign	16	4335383	4335383	Human	2	name
152053898	CV1665335	single nucleotide variant	NM_032575.3(GLIS2):c.600G>C (p.Ala200=)	Nephronophthisis [RCV002089480]	likely benign	16	4335137	4335137	Human	2	name
156393842	CV2002559	single nucleotide variant	NM_032575.3(GLIS2):c.484C>T (p.Leu162=)	Nephronophthisis [RCV002681035]	likely benign	16	4334939	4334939	Human	2	name
155905111	CV2134472	single nucleotide variant	NM_032575.3(GLIS2):c.768G>A (p.Ser256=)	Nephronophthisis [RCV002967662]	likely benign	16	4335386	4335386	Human	2	name
156161681	CV2136839	single nucleotide variant	NM_032575.3(GLIS2):c.600G>A (p.Ala200=)	Nephronophthisis [RCV003005086]	likely benign	16	4335137	4335137	Human	2	name
156031195	CV2380956	single nucleotide variant	NM_032575.3(GLIS2):c.71G>A (p.Arg24Gln)	Nephronophthisis 7 [RCV005021766]\|not specified [RCV004220534]	uncertain significance	16	4332351	4332351	Human	1	name
11580264	CV266590	single nucleotide variant	NM_032575.3(GLIS2):c.693C>T (p.Asn231=)	GLIS2-related disorder [RCV003930063]\|Kidney disorder [RCV002294213]\|Nephronophthisis 7 [RCV001094420]\|Nephronophthisis [RCV000327971]\|not provided [RCV000304669]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	4335311	4335311	Human	6	name , trait , alternate_id
401749355	CV2694626	single nucleotide variant	NM_032575.3(GLIS2):c.80C>T (p.Thr27Met)	not specified [RCV004298740]	uncertain significance	16	4332360	4332360	Human		name
405165045	CV2884556	single nucleotide variant	NM_032575.3(GLIS2):c.969C>T (p.His323=)	Nephronophthisis [RCV003587065]	likely benign	16	4336918	4336918	Human	2	name
405252953	CV3044859	single nucleotide variant	NM_032575.3(GLIS2):c.714G>A (p.Pro238=)	Nephronophthisis [RCV003748724]	likely benign	16	4335332	4335332	Human	2	name
405253280	CV3048395	single nucleotide variant	NM_032575.3(GLIS2):c.579T>C (p.His193=)	Nephronophthisis [RCV003748767]	likely benign	16	4335116	4335116	Human	2	name
11624125	CV325333	single nucleotide variant	NM_032575.3(GLIS2):c.747C>T (p.Asn249=)	Nephronophthisis 7 [RCV000382300]	uncertain significance	16	4335365	4335365	Human	1	name
11613941	CV341455	single nucleotide variant	NM_032575.3(GLIS2):c.651C>T (p.Asn217=)	GLIS2-related disorder [RCV003969900]\|Nephronophthisis 7 [RCV000272859]	likely benign\|uncertain significance	16	4335188	4335188	Human	1	name , trait , alternate_id
408366435	CV3509475	single nucleotide variant	NM_032575.3(GLIS2):c.408C>T (p.Leu136=)	GLIS2-related disorder [RCV004756664]	likely benign	16	4334863	4334863	Human		name , trait , alternate_id
597711399	CV3708794	single nucleotide variant	NM_032575.3(GLIS2):c.48G>C (p.Lys16Asn)	Nephronophthisis 7 [RCV005009799]	uncertain significance	16	4332328	4332328	Human	1	name
597711410	CV3708795	single nucleotide variant	NM_032575.3(GLIS2):c.80C>A (p.Thr27Lys)	Nephronophthisis 7 [RCV005009800]	uncertain significance	16	4332360	4332360	Human	1	name
597749268	CV3708796	single nucleotide variant	NM_032575.3(GLIS2):c.85G>T (p.Gly29Cys)	Nephronophthisis 7 [RCV005015459]	uncertain significance	16	4332365	4332365	Human	1	name
597749274	CV3708797	single nucleotide variant	NM_032575.3(GLIS2):c.95G>A (p.Arg32Gln)	Nephronophthisis 7 [RCV005015460]	uncertain significance	16	4332375	4332375	Human	1	name
597749342	CV3708815	single nucleotide variant	NM_032575.3(GLIS2):c.774A>G (p.Thr258=)	Nephronophthisis 7 [RCV005015472]	uncertain significance	16	4335392	4335392	Human	1	name
597749423	CV3708821	single nucleotide variant	NM_032575.3(GLIS2):c.867G>A (p.Val289=)	Nephronophthisis 7 [RCV005015477]	uncertain significance	16	4336816	4336816	Human	1	name
597902889	CV3851541	single nucleotide variant	NM_032575.3(GLIS2):c.576C>T (p.Tyr192=)	Nephronophthisis [RCV005202318]	likely benign	16	4335113	4335113	Human	2	name
12882162	CV401944	single nucleotide variant	NM_032575.3(GLIS2):c.627C>T (p.Cys209=)	Nephronophthisis 7 [RCV002506153]\|Nephronophthisis [RCV005090921]	likely benign	16	4335164	4335164	Human	3	name
617154439	CV4022532	single nucleotide variant	NM_032575.3(GLIS2):c.825C>A (p.Ser275=)	not provided [RCV005429889]	uncertain significance	16	4336774	4336774	Human		name
15132366	CV684591	single nucleotide variant	NM_032575.3(GLIS2):c.477G>A (p.Ser159=)	GLIS2-related disorder [RCV003918357]\|Nephronophthisis 7 [RCV002501224]\|Nephronophthisis [RCV000863789]	benign\|likely benign	16	4334932	4334932	Human	4	name , trait , alternate_id
15129773	CV684592	single nucleotide variant	NM_032575.3(GLIS2):c.789C>T (p.Tyr263=)	Kidney disorder [RCV002294388]\|Nephronophthisis 7 [RCV002501221]\|Nephronophthisis [RCV002536245]	likely benign	16	4336738	4336738	Human	6	name
15132090	CV684593	single nucleotide variant	NM_032575.3(GLIS2):c.849C>T (p.His283=)	Nephronophthisis 7 [RCV002495236]\|Nephronophthisis [RCV000863741]	benign\|likely benign	16	4336798	4336798	Human	3	name
15129737	CV684594	single nucleotide variant	NM_032575.3(GLIS2):c.915G>A (p.Thr305=)	not provided [RCV000863297]	likely benign	16	4336864	4336864	Human		name
15159491	CV688601	single nucleotide variant	NM_032575.3(GLIS2):c.414C>T (p.Ser138=)	Nephronophthisis [RCV002064598]	likely benign	16	4334869	4334869	Human	2	name
15157481	CV688602	single nucleotide variant	NM_032575.3(GLIS2):c.498G>A (p.Lys166=)	not provided [RCV000868451]	likely benign	16	4334953	4334953	Human		name
15126567	CV693875	single nucleotide variant	NM_032575.3(GLIS2):c.588C>T (p.Pro196=)	GLIS2-related disorder [RCV003920440]\|Nephronophthisis [RCV000875151]	likely benign	16	4335125	4335125	Human	4	name , trait , alternate_id
15126718	CV693876	single nucleotide variant	NM_032575.3(GLIS2):c.996C>T (p.Arg332=)	Nephronophthisis [RCV000875179]	likely benign	16	4336945	4336945	Human	2	name
28874617	CV875259	single nucleotide variant	NM_032575.3(GLIS2):c.56C>T (p.Ala19Val)	Nephronophthisis 7 [RCV001115534]\|Nephronophthisis [RCV001347794]	uncertain significance	16	4332336	4332336	Human	3	name
28889368	CV875262	single nucleotide variant	NM_032575.3(GLIS2):c.546G>A (p.Leu182=)	GLIS2-related disorder [RCV003945832]\|Nephronophthisis 7 [RCV001120233]\|Nephronophthisis [RCV005093546]	benign\|likely benign\|uncertain significance	16	4335083	4335083	Human	4	name , trait , alternate_id
28889372	CV875263	single nucleotide variant	NM_032575.3(GLIS2):c.801C>T (p.Tyr267=)	Nephronophthisis 7 [RCV001120234]	uncertain significance	16	4336750	4336750	Human	1	name
28890237	CV875264	single nucleotide variant	NM_032575.3(GLIS2):c.903C>T (p.His301=)	Nephronophthisis 7 [RCV001120538]\|Nephronophthisis [RCV003586267]	likely benign\|uncertain significance	16	4336852	4336852	Human	3	name
8643134	CV102117	single nucleotide variant	NM_032575.3(GLIS2):c.1311A>C (p.Ala437=)	Nephronophthisis 7 [RCV001094258]\|Nephronophthisis [RCV000397105]\|not provided [RCV001705784]\|not specified [RCV000082302]	benign	16	4337260	4337260	Human	3	name
151793285	CV1467661	single nucleotide variant	NM_032575.3(GLIS2):c.164C>T (p.Pro55Leu)	Nephronophthisis 7 [RCV005006254]\|Nephronophthisis [RCV001931625]	uncertain significance	16	4332444	4332444	Human	3	name
151838771	CV1487453	single nucleotide variant	NM_032575.3(GLIS2):c.100C>T (p.Arg34Cys)	Nephronophthisis 7 [RCV005006228]\|Nephronophthisis [RCV001935852]	uncertain significance	16	4332380	4332380	Human	3	name
152082097	CV1589520	single nucleotide variant	NM_032575.3(GLIS2):c.1203G>C (p.Gly401=)	Nephronophthisis [RCV002112893]	likely benign	16	4337152	4337152	Human	2	name
152098198	CV1639825	single nucleotide variant	NM_032575.3(GLIS2):c.1200T>C (p.Pro400=)	Nephronophthisis [RCV002078634]	likely benign	16	4337149	4337149	Human	2	name
155265004	CV1704554	single nucleotide variant	NM_032575.3(GLIS2):c.274C>T (p.Pro92Ser)	not provided [RCV002284770]	uncertain significance	16	4333448	4333448	Human		name
155951223	CV1880137	single nucleotide variant	NM_032575.3(GLIS2):c.1320C>T (p.Gly440=)	Nephronophthisis [RCV003074162]\|not provided [RCV004765654]	likely benign\|uncertain significance	16	4337269	4337269	Human	2	name
10050856	CV192550	single nucleotide variant	NM_032575.3(GLIS2):c.239A>T (p.Asp80Val)	GLIS2-related disorder [RCV003917633]\|Nephronophthisis 7 [RCV001116957]\|Nephronophthisis [RCV001079077]\|not provided [RCV000175958]\|not specified [RCV004020088]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	4333413	4333413	Human	4	name , trait , alternate_id
155938814	CV2119661	single nucleotide variant	NM_032575.3(GLIS2):c.278A>G (p.Asn93Ser)	Nephronophthisis [RCV002971139]	uncertain significance	16	4333452	4333452	Human	2	name
156372375	CV2185083	single nucleotide variant	NM_032575.3(GLIS2):c.1215C>T (p.Pro405=)	Nephronophthisis [RCV003049813]	likely benign	16	4337164	4337164	Human	2	name
155920794	CV2211964	single nucleotide variant	NM_032575.3(GLIS2):c.217T>C (p.Phe73Leu)	not specified [RCV004087090]	uncertain significance	16	4333391	4333391	Human		name
156293167	CV2233518	single nucleotide variant	NM_032575.3(GLIS2):c.275C>T (p.Pro92Leu)	Nephronophthisis 7 [RCV005021685]\|not specified [RCV004100000]	uncertain significance	16	4333449	4333449	Human	1	name
156040936	CV2261339	single nucleotide variant	NM_032575.3(GLIS2):c.265C>A (p.Leu89Met)	not specified [RCV004129987]	uncertain significance	16	4333439	4333439	Human		name
11346697	CV242439	single nucleotide variant	NM_032575.3(GLIS2):c.1539G>A (p.Pro513=)	Nephronophthisis 7 [RCV002487091]\|Nephronophthisis [RCV000229434]	likely benign\|uncertain significance	16	4337488	4337488	Human	3	name
329389640	CV2445267	single nucleotide variant	NM_032575.3(GLIS2):c.215G>A (p.Arg72His)	not provided [RCV004779507]\|not specified [RCV004263897]	uncertain significance	16	4333389	4333389	Human		name
11549075	CV255742	single nucleotide variant	NM_032575.3(GLIS2):c.223G>T (p.Ala75Ser)	Kidney disorder [RCV002294203]\|Nephronophthisis 7 [RCV001094252]\|Nephronophthisis [RCV000361665]\|not provided [RCV001706381]\|not specified [RCV000249945]	benign\|likely benign\|conflicting interpretations of pathogenicity	16	4333397	4333397	Human	6	name
11636468	CV265857	single nucleotide variant	NM_032575.3(GLIS2):c.1026C>T (p.Pro342=)	Nephronophthisis [RCV003103752]\|not provided [RCV000269490]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	4336975	4336975	Human	2	name
11644047	CV268655	single nucleotide variant	NM_032575.3(GLIS2):c.1296C>T (p.Ser432=)	not provided [RCV000405403]	uncertain significance	16	4337245	4337245	Human		name
405259575	CV3195101	single nucleotide variant	NM_032575.3(GLIS2):c.1479C>T (p.Gly493=)	GLIS2-related disorder [RCV003894298]\|Nephronophthisis [RCV005101616]	likely benign	16	4337428	4337428	Human	4	name , trait , alternate_id
11619971	CV325335	single nucleotide variant	NM_032575.3(GLIS2):c.1569G>A (p.Val523=)	Nephronophthisis 7 [RCV001094358]\|Nephronophthisis [RCV000331586]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	4337518	4337518	Human	3	name
11644634	CV334963	single nucleotide variant	NM_032575.3(GLIS2):c.127G>A (p.Val43Met)	Nephronophthisis 7 [RCV000261197]	uncertain significance	16	4332407	4332407	Human	1	name
11616369	CV334973	single nucleotide variant	NM_032575.3(GLIS2):c.1011G>A (p.Pro337=)	Kidney disorder [RCV002294270]\|Nephronophthisis 7 [RCV001094439]\|Nephronophthisis [RCV000293861]\|not provided [RCV001706509]	benign\|likely benign\|conflicting interpretations of pathogenicity	16	4336960	4336960	Human	6	name
11625310	CV334978	single nucleotide variant	NM_032575.3(GLIS2):c.1128C>T (p.Pro376=)	Nephronophthisis 7 [RCV000397109]\|Nephronophthisis [RCV002522847]	likely benign\|uncertain significance	16	4337077	4337077	Human	3	name
11617491	CV334981	single nucleotide variant	NM_032575.3(GLIS2):c.1326C>T (p.Ala442=)	Nephronophthisis 7 [RCV000305135]\|Nephronophthisis [RCV005090477]	likely benign\|uncertain significance	16	4337275	4337275	Human	3	name
11614396	CV334995	single nucleotide variant	NM_032575.3(GLIS2):c.1476G>A (p.Thr492=)	GLIS2-related disorder [RCV003969901]\|Nephronophthisis 7 [RCV001094303]\|Nephronophthisis [RCV000276541]\|not provided [RCV001706510]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	4337425	4337425	Human	4	name , trait , alternate_id
11619469	CV341459	single nucleotide variant	NM_032575.3(GLIS2):c.1431C>T (p.Pro477=)	GLIS2-related disorder [RCV004755874]\|Nephronophthisis 7 [RCV001094301]\|Nephronophthisis [RCV000325713]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	4337380	4337380	Human	4	name , trait , alternate_id
11625555	CV342955	single nucleotide variant	NM_032575.3(GLIS2):c.1350G>A (p.Ser450=)	Nephronophthisis 7 [RCV001094259]\|Nephronophthisis [RCV000400426]\|not provided [RCV004715078]	benign\|likely benign	16	4337299	4337299	Human	3	name
407519731	CV3443408	single nucleotide variant	NM_032575.3(GLIS2):c.290C>T (p.Ser97Leu)	not specified [RCV004629737]	likely benign	16	4333464	4333464	Human		name
408366900	CV3517936	single nucleotide variant	NM_032575.3(GLIS2):c.1536G>A (p.Pro512=)	GLIS2-related disorder [RCV004757083]	likely benign	16	4337485	4337485	Human		name , trait , alternate_id
597627021	CV3681375	single nucleotide variant	NM_032575.3(GLIS2):c.199G>A (p.Glu67Lys)	Nephronophthisis 7 [RCV005006637]\|not specified [RCV004919670]	uncertain significance	16	4333373	4333373	Human	1	name
597729147	CV3681376	single nucleotide variant	NM_032575.3(GLIS2):c.163C>T (p.Pro55Ser)	not specified [RCV004919671]	uncertain significance	16	4332443	4332443	Human		name
597711419	CV3708798	single nucleotide variant	NM_032575.3(GLIS2):c.113G>A (p.Arg38Lys)	Nephronophthisis 7 [RCV005009801]	uncertain significance	16	4332393	4332393	Human	1	name
597711427	CV3708799	single nucleotide variant	NM_032575.3(GLIS2):c.133G>A (p.Asp45Asn)	Nephronophthisis 7 [RCV005009802]	uncertain significance	16	4332413	4332413	Human	1	name
597711435	CV3708800	single nucleotide variant	NM_032575.3(GLIS2):c.161C>G (p.Ser54Cys)	Nephronophthisis 7 [RCV005009803]	uncertain significance	16	4332441	4332441	Human	1	name
597711445	CV3708802	single nucleotide variant	NM_032575.3(GLIS2):c.208G>A (p.Glu70Lys)	Nephronophthisis 7 [RCV005009804]	uncertain significance	16	4333382	4333382	Human	1	name
597711453	CV3708803	single nucleotide variant	NM_032575.3(GLIS2):c.286A>G (p.Ser96Gly)	Nephronophthisis 7 [RCV005009805]	uncertain significance	16	4333460	4333460	Human	1	name
597749864	CV3708827	single nucleotide variant	NM_032575.3(GLIS2):c.1038C>G (p.Pro346=)	Nephronophthisis 7 [RCV005015483]	uncertain significance	16	4336987	4336987	Human	1	name
597949159	CV3818497	single nucleotide variant	NM_032575.3(GLIS2):c.1455C>T (p.Gly485=)	Nephronophthisis [RCV005160758]	likely benign	16	4337404	4337404	Human	2	name
597923610	CV3840014	single nucleotide variant	NM_032575.3(GLIS2):c.1272C>T (p.Gly424=)	Nephronophthisis [RCV005184753]	likely benign	16	4337221	4337221	Human	2	name
597962516	CV3841008	single nucleotide variant	NM_032575.3(GLIS2):c.1500C>T (p.Ser500=)	Nephronophthisis [RCV005193301]	likely benign	16	4337449	4337449	Human	2	name
13478290	CV466470	single nucleotide variant	NM_032575.3(GLIS2):c.1464G>A (p.Leu488=)	Kidney disorder [RCV002294343]\|Nephronophthisis 7 [RCV002506323]\|Nephronophthisis [RCV000527559]\|not provided [RCV004716538]\|not specified [RCV003151090]	benign\|likely benign	16	4337413	4337413	Human	6	name
13810790	CV568142	single nucleotide variant	NM_032575.3(GLIS2):c.101G>A (p.Arg34His)	Nephronophthisis 7 [RCV002485618]\|Nephronophthisis [RCV000688448]	uncertain significance	16	4332381	4332381	Human	3	name
13836590	CV587866	single nucleotide variant	NM_032575.3(GLIS2):c.1560G>A (p.Pro520=)	Nephronophthisis 7 [RCV002493346]\|not provided [RCV000732752]	uncertain significance	16	4337509	4337509	Human	1	name
15131645	CV684595	single nucleotide variant	NM_032575.3(GLIS2):c.1284G>A (p.Leu428=)	Nephronophthisis 7 [RCV002495235]\|Nephronophthisis [RCV005092552]	likely benign	16	4337233	4337233	Human	3	name
15141412	CV688603	single nucleotide variant	NM_032575.3(GLIS2):c.1023C>T (p.Ala341=)	Nephronophthisis [RCV000865352]	likely benign	16	4336972	4336972	Human	2	name
15106424	CV693877	single nucleotide variant	NM_032575.3(GLIS2):c.1245G>A (p.Pro415=)	Nephronophthisis [RCV001485086]	likely benign	16	4337194	4337194	Human	2	name
15153429	CV740192	single nucleotide variant	NM_032575.3(GLIS2):c.1509G>A (p.Ala503=)	not provided [RCV000901759]	likely benign	16	4337458	4337458	Human		name
28878934	CV875269	single nucleotide variant	NM_032575.3(GLIS2):c.1510T>C (p.Leu504=)	Nephronophthisis 7 [RCV001117057]	uncertain significance	16	4337459	4337459	Human	1	name
8657814	CV132658	single nucleotide variant	NM_032575.3(GLIS2):c.523T>C (p.Cys175Arg)	Nephronophthisis 7 [RCV000115016]\|Nephronophthisis [RCV000234822]	pathogenic\|no classifications from unflagged records\|not provided	16	4335060	4335060	Human	3	name
151848512	CV1362179	single nucleotide variant	NM_032575.3(GLIS2):c.706C>T (p.Arg236Cys)	Nephronophthisis [RCV001937041]	uncertain significance	16	4335324	4335324	Human	2	name
151735790	CV1508901	single nucleotide variant	NM_032575.3(GLIS2):c.304C>T (p.Arg102Cys)	Nephronophthisis [RCV002021796]\|not provided [RCV004729051]	uncertain significance	16	4333478	4333478	Human	2	name
151890181	CV1514657	single nucleotide variant	NM_032575.3(GLIS2):c.790G>A (p.Val264Ile)	Nephronophthisis [RCV001963582]	uncertain significance	16	4336739	4336739	Human	2	name
155984119	CV2030304	single nucleotide variant	NM_032575.3(GLIS2):c.608G>A (p.Cys203Tyr)	Nephronophthisis [RCV002755460]	uncertain significance	16	4335145	4335145	Human	2	name
156354501	CV2062425	single nucleotide variant	NM_032575.3(GLIS2):c.512G>A (p.Arg171His)	Nephronophthisis [RCV002812033]	uncertain significance	16	4334967	4334967	Human	2	name
156212987	CV2110769	single nucleotide variant	NM_032575.3(GLIS2):c.628G>A (p.Ala210Thr)	Nephronophthisis 7 [RCV005019456]\|Nephronophthisis [RCV002918240]	uncertain significance	16	4335165	4335165	Human	3	name
156183222	CV2222366	single nucleotide variant	NM_032575.3(GLIS2):c.361C>T (p.Arg121Cys)	not specified [RCV004099233]	uncertain significance	16	4334816	4334816	Human		name
156062817	CV2232061	single nucleotide variant	NM_032575.3(GLIS2):c.409G>A (p.Gly137Ser)	not specified [RCV004093105]	uncertain significance	16	4334864	4334864	Human		name
156193449	CV2296974	single nucleotide variant	NM_032575.3(GLIS2):c.560A>T (p.Asp187Val)	not specified [RCV004150905]	uncertain significance	16	4335097	4335097	Human		name
156327653	CV2332133	single nucleotide variant	NM_032575.3(GLIS2):c.568A>G (p.Asn190Asp)	not specified [RCV004189172]	uncertain significance	16	4335105	4335105	Human		name
156050879	CV2367623	single nucleotide variant	NM_032575.3(GLIS2):c.614A>T (p.His205Leu)	Nephronophthisis 7 [RCV005021758]\|not specified [RCV004211547]	uncertain significance	16	4335151	4335151	Human	1	name
11347878	CV242437	single nucleotide variant	NM_032575.3(GLIS2):c.415G>A (p.Gly139Arg)	Nephronophthisis [RCV000233627]\|not provided [RCV004714553]	benign\|likely benign	16	4334870	4334870	Human	2	name
401902595	CV2799386	single nucleotide variant	NM_032575.3(GLIS2):c.571G>A (p.Asp191Asn)	GLIS2-related disorder [RCV003418942]	uncertain significance	16	4335108	4335108	Human		name , trait , alternate_id
405165534	CV2885039	single nucleotide variant	NM_032575.3(GLIS2):c.362G>A (p.Arg121His)	Nephronophthisis [RCV003587110]	uncertain significance	16	4334817	4334817	Human	2	name
405753915	CV3251812	single nucleotide variant	NM_032575.3(GLIS2):c.328C>T (p.Pro110Ser)	not specified [RCV004393159]	uncertain significance	16	4333502	4333502	Human		name
405753933	CV3251814	single nucleotide variant	NM_032575.3(GLIS2):c.589G>A (p.Glu197Lys)	Nephronophthisis 7 [RCV005015120]\|not specified [RCV004393161]	uncertain significance	16	4335126	4335126	Human	1	name
405753943	CV3251816	single nucleotide variant	NM_032575.3(GLIS2):c.836A>T (p.Asp279Val)	not specified [RCV004393163]	uncertain significance	16	4336785	4336785	Human		name
405753952	CV3251817	single nucleotide variant	NM_032575.3(GLIS2):c.851C>T (p.Thr284Met)	Nephronophthisis 7 [RCV005015121]\|not specified [RCV004393164]	uncertain significance	16	4336800	4336800	Human	1	name
405753961	CV3251818	single nucleotide variant	NM_032575.3(GLIS2):c.959T>G (p.Phe320Cys)	not specified [RCV004393165]	uncertain significance	16	4336908	4336908	Human		name
11623728	CV334972	single nucleotide variant	NM_032575.3(GLIS2):c.505G>A (p.Val169Met)	Nephronophthisis 7 [RCV000376636]\|not specified [RCV004021659]	uncertain significance	16	4334960	4334960	Human	1	name
11619138	CV342954	single nucleotide variant	NM_032575.3(GLIS2):c.344C>T (p.Ser115Leu)	Nephronophthisis 7 [RCV000322055]	uncertain significance	16	4333518	4333518	Human	1	name
407503950	CV3443407	single nucleotide variant	NM_032575.3(GLIS2):c.316G>A (p.Gly106Arg)	not specified [RCV004623910]	uncertain significance	16	4333490	4333490	Human		name
407519732	CV3443409	single nucleotide variant	NM_032575.3(GLIS2):c.778G>A (p.Glu260Lys)	not specified [RCV004629738]	uncertain significance	16	4336727	4336727	Human		name
596932913	CV3539541	single nucleotide variant	NM_032575.3(GLIS2):c.707G>A (p.Arg236His)	not provided [RCV004794166]	uncertain significance	16	4335325	4335325	Human		name
597729124	CV3681372	single nucleotide variant	NM_032575.3(GLIS2):c.511C>T (p.Arg171Cys)	not specified [RCV004919667]	uncertain significance	16	4334966	4334966	Human		name
597749286	CV3708804	single nucleotide variant	NM_032575.3(GLIS2):c.346G>A (p.Asp116Asn)	Nephronophthisis 7 [RCV005015462]	uncertain significance	16	4334801	4334801	Human	1	name
597749291	CV3708805	single nucleotide variant	NM_032575.3(GLIS2):c.365A>G (p.Tyr122Cys)	Nephronophthisis 7 [RCV005015463]	uncertain significance	16	4334820	4334820	Human	1	name
597711462	CV3708806	single nucleotide variant	NM_032575.3(GLIS2):c.410G>T (p.Gly137Val)	Nephronophthisis 7 [RCV005009806]	uncertain significance	16	4334865	4334865	Human	1	name
597711470	CV3708807	single nucleotide variant	NM_032575.3(GLIS2):c.413C>G (p.Ser138Cys)	Nephronophthisis 7 [RCV005009807]	uncertain significance	16	4334868	4334868	Human	1	name
597749302	CV3708808	single nucleotide variant	NM_032575.3(GLIS2):c.415G>C (p.Gly139Arg)	Nephronophthisis 7 [RCV005015465]	uncertain significance	16	4334870	4334870	Human	1	name
597749307	CV3708810	single nucleotide variant	NM_032575.3(GLIS2):c.468G>C (p.Lys156Asn)	Nephronophthisis 7 [RCV005015466]	uncertain significance	16	4334923	4334923	Human	1	name
597749313	CV3708811	single nucleotide variant	NM_032575.3(GLIS2):c.545T>C (p.Leu182Pro)	Nephronophthisis 7 [RCV005015467]	uncertain significance	16	4335082	4335082	Human	1	name
597749319	CV3708812	single nucleotide variant	NM_032575.3(GLIS2):c.615C>A (p.His205Gln)	Nephronophthisis 7 [RCV005015468]	uncertain significance	16	4335152	4335152	Human	1	name
597749326	CV3708813	single nucleotide variant	NM_032575.3(GLIS2):c.692A>C (p.Asn231Thr)	Nephronophthisis 7 [RCV005015469]	uncertain significance	16	4335310	4335310	Human	1	name
597749331	CV3708814	single nucleotide variant	NM_032575.3(GLIS2):c.692A>G (p.Asn231Ser)	Nephronophthisis 7 [RCV005015470]	uncertain significance	16	4335310	4335310	Human	1	name
597749353	CV3708818	single nucleotide variant	NM_032575.3(GLIS2):c.795C>A (p.Cys265Ter)	Nephronophthisis 7 [RCV005015474]	uncertain significance	16	4336744	4336744	Human	1	name
597749360	CV3708819	single nucleotide variant	NM_032575.3(GLIS2):c.802G>A (p.Glu268Lys)	Nephronophthisis 7 [RCV005015475]	uncertain significance	16	4336751	4336751	Human	1	name
597749365	CV3708820	single nucleotide variant	NM_032575.3(GLIS2):c.854G>A (p.Arg285His)	Nephronophthisis 7 [RCV005015476]	uncertain significance	16	4336803	4336803	Human	1	name
597749371	CV3708822	single nucleotide variant	NM_032575.3(GLIS2):c.901C>A (p.His301Asn)	Nephronophthisis 7 [RCV005015478]	uncertain significance	16	4336850	4336850	Human	1	name
597749885	CV3708823	single nucleotide variant	NM_032575.3(GLIS2):c.952G>A (p.Gly318Ser)	Nephronophthisis 7 [RCV005015479]	uncertain significance	16	4336901	4336901	Human	1	name
597749878	CV3708824	single nucleotide variant	NM_032575.3(GLIS2):c.953G>A (p.Gly318Asp)	Nephronophthisis 7 [RCV005015480]	uncertain significance	16	4336902	4336902	Human	1	name
597909618	CV3806354	single nucleotide variant	NM_032575.3(GLIS2):c.914C>T (p.Thr305Met)	Nephronophthisis [RCV005153921]	uncertain significance	16	4336863	4336863	Human	2	name
598263627	CV3977909	single nucleotide variant	NM_032575.3(GLIS2):c.613C>A (p.His205Asn)	not specified [RCV005348602]	uncertain significance	16	4335150	4335150	Human		name
598220915	CV3977910	single nucleotide variant	NM_032575.3(GLIS2):c.427C>T (p.His143Tyr)	not specified [RCV005340523]	uncertain significance	16	4334882	4334882	Human		name
13831847	CV582345	single nucleotide variant	NM_032575.3(GLIS2):c.751A>T (p.Lys251Ter)	not provided [RCV000722531]	uncertain significance	16	4335369	4335369	Human		name
26887202	CV843872	single nucleotide variant	NM_032575.3(GLIS2):c.995G>A (p.Arg332His)	Nephronophthisis 7 [RCV001120539]\|Nephronophthisis [RCV001066534]\|not specified [RCV004030616]	uncertain significance	16	4336944	4336944	Human	3	name
28878606	CV875260	single nucleotide variant	NM_032575.3(GLIS2):c.476C>T (p.Ser159Leu)	Nephronophthisis 7 [RCV001116959]\|Nephronophthisis [RCV001856534]\|not specified [RCV004032200]	uncertain significance	16	4334931	4334931	Human	3	name
28878607	CV875261	single nucleotide variant	NM_032575.3(GLIS2):c.479C>G (p.Pro160Arg)	Nephronophthisis 7 [RCV001116960]\|not specified [RCV004032201]	uncertain significance	16	4334934	4334934	Human	1	name
126742868	CV1012168	single nucleotide variant	NM_032575.3(GLIS2):c.1559C>T (p.Pro520Leu)	Nephronophthisis 7 [RCV002486305]\|Nephronophthisis [RCV001325543]	uncertain significance	16	4337508	4337508	Human	3	name
126743220	CV1018102	single nucleotide variant	NM_032575.3(GLIS2):c.1244C>T (p.Pro415Leu)	Nephronophthisis 7 [RCV001330150]\|not specified [RCV004629575]	uncertain significance	16	4337193	4337193	Human	1	name
151832195	CV1356082	single nucleotide variant	NM_032575.3(GLIS2):c.1475C>T (p.Thr492Met)	Nephronophthisis 7 [RCV002507825]\|Nephronophthisis [RCV002030914]\|not specified [RCV004044721]	uncertain significance	16	4337424	4337424	Human	3	name
151882678	CV1381871	single nucleotide variant	NM_032575.3(GLIS2):c.1564G>A (p.Val522Met)	Nephronophthisis 7 [RCV005016912]\|Nephronophthisis [RCV001941347]	uncertain significance	16	4337513	4337513	Human	3	name
151880956	CV1406037	single nucleotide variant	NM_032575.3(GLIS2):c.1202G>T (p.Gly401Val)	Nephronophthisis [RCV001941026]	uncertain significance	16	4337151	4337151	Human	2	name
151745428	CV1424433	single nucleotide variant	NM_032575.3(GLIS2):c.1129G>A (p.Gly377Ser)	Nephronophthisis 7 [RCV002482554]\|Nephronophthisis [RCV001947536]\|not specified [RCV004917730]	uncertain significance	16	4337078	4337078	Human	3	name
151869180	CV1516738	single nucleotide variant	NM_032575.3(GLIS2):c.1393C>T (p.Leu465Phe)	Nephronophthisis [RCV001981078]	uncertain significance	16	4337342	4337342	Human	2	name
9688364	CV177417	single nucleotide variant	NM_032575.3(GLIS2):c.1474A>G (p.Thr492Ala)	Nephronophthisis 7 [RCV001094302]\|Nephronophthisis [RCV000371105]\|not provided [RCV001706021]\|not specified [RCV000153331]	benign\|likely benign	16	4337423	4337423	Human	3	name
156004072	CV1869691	single nucleotide variant	NM_032575.3(GLIS2):c.1004C>G (p.Pro335Arg)	Nephronophthisis 7 [RCV005019611]\|Nephronophthisis [RCV003076732]	uncertain significance	16	4336953	4336953	Human	3	name
156323499	CV1870911	single nucleotide variant	NM_032575.3(GLIS2):c.1123G>C (p.Ala375Pro)	Nephronophthisis [RCV003063237]	uncertain significance	16	4337072	4337072	Human	2	name
156378037	CV1914013	single nucleotide variant	NM_032575.3(GLIS2):c.1397A>G (p.Glu466Gly)	Nephronophthisis [RCV002603751]	uncertain significance	16	4337346	4337346	Human	2	name
156042847	CV1999101	single nucleotide variant	NM_032575.3(GLIS2):c.1111C>A (p.Pro371Thr)	Nephronophthisis 7 [RCV005019319]\|Nephronophthisis [RCV002659104]\|not specified [RCV004917796]	uncertain significance	16	4337060	4337060	Human	3	name
156357890	CV2006736	single nucleotide variant	NM_032575.3(GLIS2):c.1000C>A (p.Pro334Thr)	Nephronophthisis [RCV002676050]	uncertain significance	16	4336949	4336949	Human	2	name
155952046	CV2058815	single nucleotide variant	NM_032575.3(GLIS2):c.1061T>C (p.Ile354Thr)	Nephronophthisis [RCV002816322]	uncertain significance	16	4337010	4337010	Human	2	name
156020298	CV2118552	single nucleotide variant	NM_032575.3(GLIS2):c.1327G>A (p.Glu443Lys)	Nephronophthisis 7 [RCV005019501]\|Nephronophthisis [RCV002948740]	uncertain significance	16	4337276	4337276	Human	3	name
10405690	CV213193	single nucleotide variant	NM_032575.3(GLIS2):c.1105G>A (p.Gly369Ser)	Nephronophthisis 7 [RCV000764071]\|Nephronophthisis [RCV000197087]\|not specified [RCV005338107]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	4337054	4337054	Human	3	name
155950334	CV2133103	single nucleotide variant	NM_032575.3(GLIS2):c.1480G>A (p.Val494Ile)	Nephronophthisis [RCV002994590]	uncertain significance	16	4337429	4337429	Human	2	name
156107349	CV2139972	single nucleotide variant	NM_032575.3(GLIS2):c.1413C>A (p.Ser471Arg)	Nephronophthisis [RCV003002449]	likely benign	16	4337362	4337362	Human	2	name
156113645	CV2154349	single nucleotide variant	NM_032575.3(GLIS2):c.1042G>A (p.Val348Ile)	Nephronophthisis [RCV003021515]	uncertain significance	16	4336991	4336991	Human	2	name
156237643	CV2206944	single nucleotide variant	NM_032575.3(GLIS2):c.1165G>A (p.Gly389Ser)	not specified [RCV004083606]	uncertain significance	16	4337114	4337114	Human		name
10767110	CV222488	single nucleotide variant	NM_032575.3(GLIS2):c.1180G>A (p.Gly394Ser)	Nephronophthisis 7 [RCV001094256]\|Nephronophthisis [RCV000204182]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	4337129	4337129	Human	3	name
10766844	CV222489	single nucleotide variant	NM_032575.3(GLIS2):c.1259C>T (p.Pro420Leu)	Nephronophthisis 7 [RCV001094257]\|Nephronophthisis [RCV000203750]\|not provided [RCV001706191]\|not specified [RCV001818499]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	4337208	4337208	Human	3	name
156217357	CV2253856	single nucleotide variant	NM_032575.3(GLIS2):c.1367T>C (p.Leu456Pro)	not specified [RCV004127543]	uncertain significance	16	4337316	4337316	Human		name
156366828	CV2269772	single nucleotide variant	NM_032575.3(GLIS2):c.1071C>G (p.Asn357Lys)	not specified [RCV004127019]	uncertain significance	16	4337020	4337020	Human		name
156060814	CV2280267	single nucleotide variant	NM_032575.3(GLIS2):c.1556A>C (p.Lys519Thr)	not specified [RCV004140471]	uncertain significance	16	4337505	4337505	Human		name
156190142	CV2289238	single nucleotide variant	NM_032575.3(GLIS2):c.1421G>A (p.Arg474Gln)	Nephronophthisis 7 [RCV005021711]\|not specified [RCV004152229]	uncertain significance	16	4337370	4337370	Human	1	name
156074155	CV2321638	single nucleotide variant	NM_032575.3(GLIS2):c.1420C>T (p.Arg474Trp)	Nephronophthisis 7 [RCV005021732]\|not specified [RCV004179652]	uncertain significance	16	4337369	4337369	Human	1	name
156212864	CV2367001	single nucleotide variant	NM_032575.3(GLIS2):c.1006A>C (p.Lys336Gln)	not specified [RCV004213405]	uncertain significance	16	4336955	4336955	Human		name
156402122	CV2368026	single nucleotide variant	NM_032575.3(GLIS2):c.1078G>A (p.Ala360Thr)	Nephronophthisis [RCV003586383]\|not specified [RCV004223110]	uncertain significance	16	4337027	4337027	Human	2	name
329360357	CV2458689	single nucleotide variant	NM_032575.3(GLIS2):c.1027G>A (p.Asp343Asn)	Nephronophthisis 7 [RCV005021852]\|not specified [RCV004268350]	uncertain significance	16	4336976	4336976	Human	1	name
401796720	CV2739700	single nucleotide variant	NM_032575.3(GLIS2):c.1240A>G (p.Asn414Asp)	not provided [RCV003319661]	uncertain significance	16	4337189	4337189	Human		name
405251211	CV3022616	single nucleotide variant	NM_032575.3(GLIS2):c.1393C>G (p.Leu465Val)	GLIS2-related disorder [RCV004756530]\|Nephronophthisis 7 [RCV005014874]\|Nephronophthisis [RCV003747875]\|not provided [RCV004780623]\|not specified [RCV004634325]	uncertain significance	16	4337342	4337342	Human	4	name , trait , alternate_id
405268360	CV3200994	single nucleotide variant	NM_032575.3(GLIS2):c.1309G>C (p.Ala437Pro)	GLIS2-related disorder [RCV003899106]\|not specified [RCV004369734]	uncertain significance	16	4337258	4337258	Human	1	name , trait , alternate_id
405753874	CV3251806	single nucleotide variant	NM_032575.3(GLIS2):c.1093C>T (p.Pro365Ser)	not specified [RCV004393153]	uncertain significance	16	4337042	4337042	Human		name
405753881	CV3251807	single nucleotide variant	NM_032575.3(GLIS2):c.1189G>A (p.Gly397Ser)	not specified [RCV004393154]	uncertain significance	16	4337138	4337138	Human		name
405753890	CV3251808	single nucleotide variant	NM_032575.3(GLIS2):c.1268C>T (p.Ala423Val)	not specified [RCV004393155]	uncertain significance	16	4337217	4337217	Human		name
405753896	CV3251809	single nucleotide variant	NM_032575.3(GLIS2):c.1343G>A (p.Arg448His)	not specified [RCV004393156]	uncertain significance	16	4337292	4337292	Human		name
405753902	CV3251810	single nucleotide variant	NM_032575.3(GLIS2):c.1489G>C (p.Ala497Pro)	not specified [RCV004393157]	uncertain significance	16	4337438	4337438	Human		name
11622422	CV325334	single nucleotide variant	NM_032575.3(GLIS2):c.1335G>C (p.Glu445Asp)	Nephronophthisis 7 [RCV000359915]	uncertain significance	16	4337284	4337284	Human	1	name
11617198	CV334984	single nucleotide variant	NM_032575.3(GLIS2):c.1355C>A (p.Pro452His)	Nephronophthisis 7 [RCV000301894]	uncertain significance	16	4337304	4337304	Human	1	name
11622891	CV334990	single nucleotide variant	NM_032575.3(GLIS2):c.1403C>T (p.Thr468Met)	Nephronophthisis 7 [RCV000365892]\|not provided [RCV003226920]	uncertain significance	16	4337352	4337352	Human	1	name
11613746	CV334992	single nucleotide variant	NM_032575.3(GLIS2):c.1413C>G (p.Ser471Arg)	GLIS2-related disorder [RCV003920346]\|Nephronophthisis 7 [RCV001094300]\|Nephronophthisis [RCV000271342]\|not provided [RCV004705339]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	16	4337362	4337362	Human	4	name , trait , alternate_id
11624571	CV341456	single nucleotide variant	NM_032575.3(GLIS2):c.1010C>T (p.Pro337Leu)	Nephronophthisis 7 [RCV001094438]\|Nephronophthisis [RCV000387908]\|not provided [RCV001560075]	benign\|likely benign	16	4336959	4336959	Human	3	name
407519727	CV3443405	single nucleotide variant	NM_032575.3(GLIS2):c.1087G>C (p.Gly363Arg)	not specified [RCV004629735]	uncertain significance	16	4337036	4337036	Human		name
407519729	CV3443406	single nucleotide variant	NM_032575.3(GLIS2):c.1193T>C (p.Met398Thr)	not specified [RCV004629736]	uncertain significance	16	4337142	4337142	Human		name
408386373	CV3522488	single nucleotide variant	NM_032575.3(GLIS2):c.1039T>C (p.Tyr347His)	not provided [RCV004767848]	uncertain significance	16	4336988	4336988	Human		name
596929012	CV3540710	single nucleotide variant	NM_032575.3(GLIS2):c.1378G>A (p.Gly460Ser)	not provided [RCV004795038]	uncertain significance	16	4337327	4337327	Human		name
597759922	CV3681377	single nucleotide variant	NM_032575.3(GLIS2):c.1031G>A (p.Gly344Asp)	not specified [RCV004925603]	uncertain significance	16	4336980	4336980	Human		name
597627026	CV3681378	single nucleotide variant	NM_032575.3(GLIS2):c.1338G>T (p.Lys446Asn)	Nephronophthisis 7 [RCV005017343]\|not specified [RCV004925604]	likely benign\|uncertain significance	16	4337287	4337287	Human	1	name
597759927	CV3681379	single nucleotide variant	NM_032575.3(GLIS2):c.1051G>A (p.Ala351Thr)	not specified [RCV004925605]	uncertain significance	16	4337000	4337000	Human		name
597627030	CV3681380	single nucleotide variant	NM_032575.3(GLIS2):c.1429C>T (p.Pro477Ser)	Nephronophthisis 7 [RCV005017344]\|not specified [RCV004925606]	uncertain significance	16	4337378	4337378	Human	1	name
597749868	CV3708825	single nucleotide variant	NM_032575.3(GLIS2):c.1000C>G (p.Pro334Ala)	Nephronophthisis 7 [RCV005015482]	uncertain significance	16	4336949	4336949	Human	1	name
597749859	CV3708828	single nucleotide variant	NM_032575.3(GLIS2):c.1055A>G (p.Gln352Arg)	Nephronophthisis 7 [RCV005015484]	uncertain significance	16	4337004	4337004	Human	1	name
597749854	CV3708829	single nucleotide variant	NM_032575.3(GLIS2):c.1090G>A (p.Gly364Ser)	Nephronophthisis 7 [RCV005015485]	uncertain significance	16	4337039	4337039	Human	1	name
597749848	CV3708830	single nucleotide variant	NM_032575.3(GLIS2):c.1186G>A (p.Gly396Arg)	Nephronophthisis 7 [RCV005015486]	uncertain significance	16	4337135	4337135	Human	1	name
597749838	CV3708832	single nucleotide variant	NM_032575.3(GLIS2):c.1255T>C (p.Ser419Pro)	Nephronophthisis 7 [RCV005015488]	uncertain significance	16	4337204	4337204	Human	1	name
597749826	CV3708834	single nucleotide variant	NM_032575.3(GLIS2):c.1262T>C (p.Phe421Ser)	Nephronophthisis 7 [RCV005015490]	uncertain significance	16	4337211	4337211	Human	1	name
597749821	CV3708835	single nucleotide variant	NM_032575.3(GLIS2):c.1279G>C (p.Gly427Arg)	Nephronophthisis 7 [RCV005015491]	uncertain significance	16	4337228	4337228	Human	1	name
597749816	CV3708836	single nucleotide variant	NM_032575.3(GLIS2):c.1309G>A (p.Ala437Thr)	Nephronophthisis 7 [RCV005015492]	uncertain significance	16	4337258	4337258	Human	1	name
597749810	CV3708837	single nucleotide variant	NM_032575.3(GLIS2):c.1363G>A (p.Ala455Thr)	Nephronophthisis 7 [RCV005015493]	uncertain significance	16	4337312	4337312	Human	1	name
597749805	CV3708838	single nucleotide variant	NM_032575.3(GLIS2):c.1375G>T (p.Glu459Ter)	Nephronophthisis 7 [RCV005015494]	uncertain significance	16	4337324	4337324	Human	1	name
597749794	CV3708839	single nucleotide variant	NM_032575.3(GLIS2):c.1390C>T (p.Pro464Ser)	Nephronophthisis 7 [RCV005015496]	uncertain significance	16	4337339	4337339	Human	1	name
597749789	CV3708841	single nucleotide variant	NM_032575.3(GLIS2):c.1403C>A (p.Thr468Lys)	Nephronophthisis 7 [RCV005015497]	uncertain significance	16	4337352	4337352	Human	1	name
597749784	CV3708842	single nucleotide variant	NM_032575.3(GLIS2):c.1412G>A (p.Ser471Asn)	Nephronophthisis 7 [RCV005015498]	uncertain significance	16	4337361	4337361	Human	1	name
597749779	CV3708843	single nucleotide variant	NM_032575.3(GLIS2):c.1414T>C (p.Cys472Arg)	Nephronophthisis 7 [RCV005015499]	uncertain significance	16	4337363	4337363	Human	1	name
597749775	CV3708844	single nucleotide variant	NM_032575.3(GLIS2):c.1432G>A (p.Asp478Asn)	Nephronophthisis 7 [RCV005015500]	uncertain significance	16	4337381	4337381	Human	1	name
597749377	CV3708845	single nucleotide variant	NM_032575.3(GLIS2):c.1441C>G (p.Pro481Ala)	Nephronophthisis 7 [RCV005015502]	uncertain significance	16	4337390	4337390	Human	1	name
597749382	CV3708847	single nucleotide variant	NM_032575.3(GLIS2):c.1467C>A (p.Asp489Glu)	Nephronophthisis 7 [RCV005015503]	uncertain significance	16	4337416	4337416	Human	1	name
597749388	CV3708848	single nucleotide variant	NM_032575.3(GLIS2):c.1475C>A (p.Thr492Lys)	Nephronophthisis 7 [RCV005015504]	uncertain significance	16	4337424	4337424	Human	1	name
597749394	CV3708849	single nucleotide variant	NM_032575.3(GLIS2):c.1544C>T (p.Ser515Leu)	Nephronophthisis 7 [RCV005015505]	uncertain significance	16	4337493	4337493	Human	1	name
598263620	CV3977906	single nucleotide variant	NM_032575.3(GLIS2):c.1316G>A (p.Gly439Asp)	not specified [RCV005348600]	uncertain significance	16	4337265	4337265	Human		name
598220906	CV3977907	single nucleotide variant	NM_032575.3(GLIS2):c.1484A>T (p.Asn495Ile)	not specified [RCV005340522]	uncertain significance	16	4337433	4337433	Human		name
598263623	CV3977908	single nucleotide variant	NM_032575.3(GLIS2):c.1213C>A (p.Pro405Thr)	not specified [RCV005348601]	uncertain significance	16	4337162	4337162	Human		name
13606296	CV530109	single nucleotide variant	NM_032575.3(GLIS2):c.1273G>A (p.Gly425Arg)	Nephronophthisis 7 [RCV002483813]\|Nephronophthisis [RCV000638092]\|not provided [RCV005231211]	uncertain significance	16	4337222	4337222	Human	3	name
14713667	CV644686	single nucleotide variant	NM_032575.3(GLIS2):c.1388C>T (p.Thr463Met)	Nephronophthisis 7 [RCV002507366]\|Nephronophthisis [RCV000793767]\|not specified [RCV004917649]	uncertain significance	16	4337337	4337337	Human	3	name
28890240	CV875265	single nucleotide variant	NM_032575.3(GLIS2):c.1033G>A (p.Gly345Ser)	Nephronophthisis 7 [RCV001120540]\|Nephronophthisis [RCV002556586]	uncertain significance	16	4336982	4336982	Human	3	name
28890243	CV875266	single nucleotide variant	NM_032575.3(GLIS2):c.1040A>C (p.Tyr347Ser)	Nephronophthisis 7 [RCV001120541]	uncertain significance	16	4336989	4336989	Human	1	name
28874841	CV875267	single nucleotide variant	NM_032575.3(GLIS2):c.1177G>A (p.Gly393Arg)	GLIS2-related disorder [RCV003918699]\|Nephronophthisis 7 [RCV001115632]\|Nephronophthisis [RCV002556272]\|not provided [RCV003480962]\|not specified [RCV004032194]	uncertain significance	16	4337126	4337126	Human	4	name , trait , alternate_id
28874843	CV875268	single nucleotide variant	NM_032575.3(GLIS2):c.1256C>T (p.Ser419Leu)	Nephronophthisis 7 [RCV001115633]\|Nephronophthisis [RCV001207584]	uncertain significance	16	4337205	4337205	Human	3	name
28878937	CV875270	single nucleotide variant	NM_032575.3(GLIS2):c.1526T>G (p.Val509Gly)	Nephronophthisis 7 [RCV001117058]	uncertain significance	16	4337475	4337475	Human	1	name
38490250	CV949403	single nucleotide variant	NM_032575.3(GLIS2):c.1094C>T (p.Pro365Leu)	Nephronophthisis [RCV001238751]	uncertain significance	16	4337043	4337043	Human	2	name
597749842	CV3708831	microsatellite	NM_032575.3(GLIS2):c.1226_1227del (p.Leu409fs)	Nephronophthisis 7 [RCV005015487]	uncertain significance	16	4337172	4337173	Human		name
150530093	CV1289756	deletion	NM_032575.3(GLIS2):c.570_584del (p.Asn190_Val194del)	Nephronophthisis 7 [RCV001730163]\|not provided [RCV003882737]	pathogenic\|uncertain significance	16	4335097	4335111	Human	1	name
11348455	CV242438	duplication	NM_032575.3(GLIS2):c.1194_1208dup (p.Gly401_Pro405dup)	Nephronophthisis [RCV000226648]	uncertain significance	16	4337142	4337143	Human	2	name

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