ClinVar for MedGen (Select 762112) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25854781.	NM_014956.5(CEP164):c.347dup (p.Glu117fs) GRCh37: Chr11:117222647-117222648 GRCh38: Chr11:117351931-117351932	CEP164	E117fs	Nephronophthisis 15	Likely pathogenic	criteria provided, single submitter
Select item 24281332.	NM_014956.5(CEP164):c.3239C>G (p.Ser1080Cys) GRCh37: Chr11:117267288 GRCh38: Chr11:117396572	CEP164	S1080C, S1083C	Nephronophthisis 15	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 24260253.	NC_000011.9:g.(?_117278705)_(117284975_?)del GRCh37: Chr11:117278705-117284975	CEP164		Nephronophthisis 15	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 24260244.	NC_000011.9:g.(?_117253375)_(117257939_?)del GRCh37: Chr11:117253375-117257939	CEP164		Nephronophthisis 15	Likely pathogenic (Jul 12, 2022)	criteria provided, single submitter
Select item 24260235.	NC_000011.9:g.(?_117209303)_(117234242_?)dup GRCh37: Chr11:117209303-117234242	CEP164		Nephronophthisis 15	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 24260226.	NC_000011.9:g.(?_117232531)_(117233274_?)del GRCh37: Chr11:117232531-117233274	CEP164		Nephronophthisis 15	Uncertain significance (Jun 18, 2022)	criteria provided, single submitter
Select item 24260217.	NC_000011.9:g.(?_116660844)_(117870356_?)del GRCh37: Chr11:116660844-117870356	APOA1, APOA4, APOA5, APOC3, BACE1, BACE1-AS, CEP164, DSCAML1, FXYD2, FXYD6, FXYD6-FXYD2, IL10RA, PAFAH1B2, PCSK7, RNF214, SIDT2, SIK3, TAGLN, TMPRSS13		not provided	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 24259568.	NM_014956.5(CEP164):c.734T>C (p.Ile245Thr) GRCh37: Chr11:117234191 GRCh38: Chr11:117363475	CEP164	I245T	Nephronophthisis 15	Uncertain significance (Jul 20, 2022)	criteria provided, single submitter
Select item 24212009.	NM_014956.5(CEP164):c.440T>C (p.Leu147Pro) GRCh37: Chr11:117232597 GRCh38: Chr11:117361881	CEP164	L147P	Nephronophthisis 15	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 242019610.	NM_014956.5(CEP164):c.1733C>T (p.Thr578Ile) GRCh37: Chr11:117257927 GRCh38: Chr11:117387211	CEP164	T578I, T581I	Nephronophthisis 15	Uncertain significance (Aug 11, 2022)	criteria provided, single submitter
Select item 241958011.	NM_014956.5(CEP164):c.2913+4T>G GRCh37: Chr11:117265911 GRCh38: Chr11:117395195	CEP164		Nephronophthisis 15	Uncertain significance (Aug 28, 2022)	criteria provided, single submitter
Select item 241851812.	NM_014956.5(CEP164):c.1233+7T>G GRCh37: Chr11:117244554 GRCh38: Chr11:117373838	CEP164		Nephronophthisis 15	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 241753913.	NM_014956.5(CEP164):c.2747G>A (p.Arg916Gln) GRCh37: Chr11:117265196 GRCh38: Chr11:117394480	CEP164	R916Q, R919Q	Nephronophthisis 15	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 241711214.	NM_014956.5(CEP164):c.1234-2A>T GRCh37: Chr11:117246422 GRCh38: Chr11:117375706	CEP164		Nephronophthisis 15	Likely pathogenic (Feb 10, 2022)	criteria provided, single submitter
Select item 241661215.	NM_014956.5(CEP164):c.1589C>T (p.Pro530Leu) GRCh37: Chr11:117253523 GRCh38: Chr11:117382807	CEP164	P530L, P533L	Nephronophthisis 15	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 241659216.	NM_014956.5(CEP164):c.3787G>A (p.Gly1263Arg) GRCh37: Chr11:117280372 GRCh38: Chr11:117409656	CEP164	G1258R, G1263R	Nephronophthisis 15	Uncertain significance (Feb 12, 2022)	criteria provided, single submitter
Select item 241657117.	NM_014956.5(CEP164):c.2561T>C (p.Met854Thr) GRCh37: Chr11:117263787 GRCh38: Chr11:117393071	CEP164	M854T, M857T	Nephronophthisis 15	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 241530018.	NM_014956.5(CEP164):c.3463A>G (p.Ile1155Val) GRCh37: Chr11:117267991 GRCh38: Chr11:117397275	CEP164	I1155V, I1158V	Nephronophthisis 15	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 241521219.	NM_014956.5(CEP164):c.1725-13C>T GRCh37: Chr11:117257906 GRCh38: Chr11:117387190	CEP164		Nephronophthisis 15	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 241504520.	NM_014956.5(CEP164):c.1409+11T>A GRCh37: Chr11:117251432 GRCh38: Chr11:117380716	CEP164		Nephronophthisis 15	Likely benign (Jan 1, 2022)	criteria provided, single submitter
Select item 241497721.	NM_014956.5(CEP164):c.3975A>G (p.Ser1325=) GRCh37: Chr11:117280560 GRCh38: Chr11:117409844	CEP164		Nephronophthisis 15	Likely benign (Dec 20, 2021)	criteria provided, single submitter
Select item 220265722.	NM_014956.5(CEP164):c.1317+16T>G GRCh37: Chr11:117246523 GRCh38: Chr11:117375807	CEP164		Nephronophthisis 15	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 220262423.	NM_014956.5(CEP164):c.990_1001dup (p.Pro334_Thr335insLysAlaAspPro) GRCh37: Chr11:117242016-117242017 GRCh38: Chr11:117371300-117371301	CEP164		Nephronophthisis 15	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 220232824.	NM_014956.5(CEP164):c.4264_4265insTGGTAAC (p.Arg1422fs) GRCh37: Chr11:117282608-117282609 GRCh38: Chr11:117411892-117411893	CEP164	R1417fs, R1422fs	Nephronophthisis 15	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 220143725.	NM_014956.5(CEP164):c.2359G>A (p.Glu787Lys) GRCh37: Chr11:117263017 GRCh38: Chr11:117392301	CEP164	E787K, E790K	Nephronophthisis 15	Uncertain significance (Jun 16, 2022)	criteria provided, single submitter
Select item 220141826.	NM_014956.5(CEP164):c.3571G>A (p.Glu1191Lys) GRCh37: Chr11:117278710 GRCh38: Chr11:117407994	CEP164	E1194K, E1191K	Nephronophthisis 15	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 220081827.	NM_014956.5(CEP164):c.154G>C (p.Glu52Gln) GRCh37: Chr11:117214953 GRCh38: Chr11:117344237	CEP164	E52Q	Nephronophthisis 15	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 220050428.	NM_014956.5(CEP164):c.720C>G (p.Asn240Lys) GRCh37: Chr11:117234177 GRCh38: Chr11:117363461	CEP164	N240K	Nephronophthisis 15	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 219650729.	NM_014956.5(CEP164):c.1669G>A (p.Glu557Lys) GRCh37: Chr11:117253603 GRCh38: Chr11:117382887	CEP164	E557K, E560K	Nephronophthisis 15	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 219616330.	NM_014956.5(CEP164):c.79C>G (p.Gln27Glu) GRCh37: Chr11:117209381 GRCh38: Chr11:117338665	CEP164	Q27E	Nephronophthisis 15	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 219532231.	NM_014956.5(CEP164):c.1153-15G>A GRCh37: Chr11:117244452 GRCh38: Chr11:117373736	CEP164		Nephronophthisis 15	Likely benign (Apr 3, 2022)	criteria provided, single submitter
Select item 219434632.	NM_014956.5(CEP164):c.2648A>C (p.His883Pro) GRCh37: Chr11:117265097 GRCh38: Chr11:117394381	CEP164	H883P, H886P	Nephronophthisis 15	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 219396133.	NM_014956.5(CEP164):c.4063T>C (p.Phe1355Leu) GRCh37: Chr11:117280648 GRCh38: Chr11:117409932	CEP164	F1355L, F1350L	Nephronophthisis 15	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 219358334.	NM_014956.5(CEP164):c.152G>A (p.Arg51Gln) GRCh37: Chr11:117214951 GRCh38: Chr11:117344235	CEP164	R51Q	Nephronophthisis 15	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 219357135.	NM_014956.5(CEP164):c.3664G>A (p.Asp1222Asn) GRCh37: Chr11:117279660 GRCh38: Chr11:117408944	CEP164	D1225N, D1222N	Nephronophthisis 15, not provided	Uncertain significance (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219333136.	NM_014956.5(CEP164):c.2284-16C>T GRCh37: Chr11:117262926 GRCh38: Chr11:117392210	CEP164		Nephronophthisis 15	Likely benign (Sep 4, 2022)	criteria provided, single submitter
Select item 219227137.	NM_014956.5(CEP164):c.3396A>G (p.Lys1132=) GRCh37: Chr11:117267924 GRCh38: Chr11:117397208	CEP164		Nephronophthisis 15	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 219211938.	NM_014956.5(CEP164):c.2066+11_2066+12del GRCh37: Chr11:117261635-117261636 GRCh38: Chr11:117390919-117390920	CEP164		Nephronophthisis 15	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 219102039.	NM_014956.5(CEP164):c.1273G>T (p.Asp425Tyr) GRCh37: Chr11:117246463 GRCh38: Chr11:117375747	CEP164	D425Y	Nephronophthisis 15	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 219001940.	NM_014956.5(CEP164):c.2760+18G>T GRCh37: Chr11:117265227 GRCh38: Chr11:117394511	CEP164		Nephronophthisis 15	Likely benign (Apr 18, 2022)	criteria provided, single submitter
Select item 218665641.	NM_014956.5(CEP164):c.412G>A (p.Ala138Thr) GRCh37: Chr11:117232569 GRCh38: Chr11:117361853	CEP164	A138T	Nephronophthisis 15	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 218602442.	NM_014956.5(CEP164):c.3990G>A (p.Thr1330=) GRCh37: Chr11:117280575 GRCh38: Chr11:117409859	CEP164		Nephronophthisis 15	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 218569443.	NM_014956.5(CEP164):c.2914-6C>T GRCh37: Chr11:117266257 GRCh38: Chr11:117395541	CEP164		Nephronophthisis 15	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 218464344.	NM_014956.5(CEP164):c.3050T>G (p.Leu1017Arg) GRCh37: Chr11:117266399 GRCh38: Chr11:117395683	CEP164	L1020R, L1017R	Nephronophthisis 15	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 218159345.	NM_014956.5(CEP164):c.623C>T (p.Ala208Val) GRCh37: Chr11:117233190 GRCh38: Chr11:117362474	CEP164	A208V	Nephronophthisis 15	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 218028046.	NM_014956.5(CEP164):c.381C>T (p.Pro127=) GRCh37: Chr11:117222692 GRCh38: Chr11:117351976	CEP164		Nephronophthisis 15	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 218025047.	NM_014956.5(CEP164):c.268G>C (p.Glu90Gln) GRCh37: Chr11:117222579 GRCh38: Chr11:117351863	CEP164	E90Q	Inborn genetic diseases, Nephronophthisis 15	Uncertain significance (Mar 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 217915148.	NM_014956.5(CEP164):c.3613T>G (p.Ser1205Ala) GRCh37: Chr11:117279609 GRCh38: Chr11:117408893	CEP164	S1205A, S1208A	Nephronophthisis 15	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 217834049.	NM_014956.5(CEP164):c.2303A>G (p.Lys768Arg) GRCh37: Chr11:117262961 GRCh38: Chr11:117392245	CEP164	K771R, K768R	Nephronophthisis 15	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 217678150.	NM_014956.5(CEP164):c.3543A>G (p.Lys1181=) GRCh37: Chr11:117278682 GRCh38: Chr11:117407966	CEP164		Nephronophthisis 15	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 217572451.	NM_014956.5(CEP164):c.2617-17G>T GRCh37: Chr11:117265049 GRCh38: Chr11:117394333	CEP164		Nephronophthisis 15	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 217295452.	NM_014956.5(CEP164):c.2970G>A (p.Leu990=) GRCh37: Chr11:117266319 GRCh38: Chr11:117395603	CEP164		Nephronophthisis 15	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 217284953.	NM_014956.5(CEP164):c.1409+3A>T GRCh37: Chr11:117251424 GRCh38: Chr11:117380708	CEP164	Y471F	Nephronophthisis 15	Uncertain significance (Dec 14, 2021)	criteria provided, single submitter
Select item 217277754.	NM_014956.5(CEP164):c.3798C>T (p.His1266=) GRCh37: Chr11:117280383 GRCh38: Chr11:117409667	CEP164		Nephronophthisis 15	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 217277255.	NM_014956.5(CEP164):c.4163+14G>A GRCh37: Chr11:117281624 GRCh38: Chr11:117410908	CEP164		Nephronophthisis 15	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 217150556.	NM_014956.5(CEP164):c.2644G>C (p.Gly882Arg) GRCh37: Chr11:117265093 GRCh38: Chr11:117394377	CEP164	G882R, G885R	Nephronophthisis 15	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 217130057.	NM_014956.5(CEP164):c.2165T>C (p.Leu722Pro) GRCh37: Chr11:117261813 GRCh38: Chr11:117391097	CEP164	L725P, L722P	Nephronophthisis 15	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 216811358.	NM_014956.5(CEP164):c.4152C>T (p.Tyr1384=) GRCh37: Chr11:117281599 GRCh38: Chr11:117410883	CEP164		Nephronophthisis 15	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 216605159.	NM_014956.5(CEP164):c.3789G>A (p.Gly1263=) GRCh37: Chr11:117280374 GRCh38: Chr11:117409658	CEP164		Nephronophthisis 15	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 216463060.	NM_014956.5(CEP164):c.3609+4C>T GRCh37: Chr11:117278752 GRCh38: Chr11:117408036	CEP164		Nephronophthisis 15	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 216401961.	NM_014956.5(CEP164):c.2845-9C>G GRCh37: Chr11:117265830 GRCh38: Chr11:117395114	CEP164		Nephronophthisis 15	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 216149362.	NM_014956.5(CEP164):c.83-15T>G GRCh37: Chr11:117214867 GRCh38: Chr11:117344151	CEP164		Nephronophthisis 15	Likely benign (May 22, 2022)	criteria provided, single submitter
Select item 216113763.	NM_014956.5(CEP164):c.36G>T (p.Leu12=) GRCh37: Chr11:117209338 GRCh38: Chr11:117338622	CEP164		Nephronophthisis 15	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 216066064.	NM_014956.5(CEP164):c.1298del (p.Leu433fs) GRCh37: Chr11:117246488 GRCh38: Chr11:117375772	CEP164	L433fs	Nephronophthisis 15	Pathogenic (Sep 19, 2022)	criteria provided, single submitter
Select item 216038765.	NM_014956.5(CEP164):c.1054G>A (p.Val352Ile) GRCh37: Chr11:117242084 GRCh38: Chr11:117371368	CEP164	V352I	Nephronophthisis 15	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 215928966.	NM_014956.5(CEP164):c.194+20_194+25del GRCh37: Chr11:117215012-117215017 GRCh38: Chr11:117344296-117344301	CEP164		Nephronophthisis 15	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 215905167.	NM_014956.5(CEP164):c.2490C>T (p.His830=) GRCh37: Chr11:117263340 GRCh38: Chr11:117392624	CEP164		Nephronophthisis 15	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 215805668.	NM_014956.5(CEP164):c.3530C>T (p.Ser1177Leu) GRCh37: Chr11:117278669 GRCh38: Chr11:117407953	CEP164	S1180L, S1177L	Nephronophthisis 15	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 215745969.	NM_014956.5(CEP164):c.765+12A>G GRCh37: Chr11:117234234 GRCh38: Chr11:117363518	CEP164		Nephronophthisis 15	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 215532670.	NM_014956.5(CEP164):c.3771C>T (p.Thr1257=) GRCh37: Chr11:117280356 GRCh38: Chr11:117409640	CEP164		Nephronophthisis 15	Likely benign (Feb 2, 2022)	criteria provided, single submitter
Select item 215424871.	NM_014956.5(CEP164):c.1839C>T (p.Ser613=) GRCh37: Chr11:117258033 GRCh38: Chr11:117387317	CEP164		Nephronophthisis 15	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 215421172.	NM_014956.5(CEP164):c.1164T>C (p.Ile388=) GRCh37: Chr11:117244478 GRCh38: Chr11:117373762	CEP164		Nephronophthisis 15	Likely benign (Jun 2, 2022)	criteria provided, single submitter
Select item 215341773.	NM_014956.5(CEP164):c.3193del (p.Asp1065fs) GRCh37: Chr11:117266872 GRCh38: Chr11:117396156	CEP164	D1065fs, D1068fs	Nephronophthisis 15	Pathogenic (May 10, 2022)	criteria provided, single submitter
Select item 215243074.	NM_014956.5(CEP164):c.3471C>T (p.Ala1157=) GRCh37: Chr11:117267999 GRCh38: Chr11:117397283	CEP164		Nephronophthisis 15	Likely benign (Jun 9, 2022)	criteria provided, single submitter
Select item 215223675.	NM_014956.5(CEP164):c.2233_2235del (p.Glu745del) GRCh37: Chr11:117261879-117261881 GRCh38: Chr11:117391163-117391165	CEP164	E745del, E748del	Nephronophthisis 15	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 215218376.	NM_014956.5(CEP164):c.3217-19T>C GRCh37: Chr11:117267247 GRCh38: Chr11:117396531	CEP164		Nephronophthisis 15	Likely benign (Oct 29, 2022)	criteria provided, single submitter
Select item 215209177.	NM_014956.5(CEP164):c.1530T>C (p.Leu510=) GRCh37: Chr11:117252537 GRCh38: Chr11:117381821	CEP164		Nephronophthisis 15	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 215206478.	NM_014956.5(CEP164):c.3711T>A (p.Phe1237Leu) GRCh37: Chr11:117279707 GRCh38: Chr11:117408991	CEP164	F1240L, F1237L	Nephronophthisis 15	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 215182779.	NM_014956.5(CEP164):c.4299G>C (p.Ser1433=) GRCh37: Chr11:117282800 GRCh38: Chr11:117412084	CEP164		Nephronophthisis 15	Likely benign (Sep 29, 2021)	criteria provided, single submitter
Select item 215178780.	NM_014956.5(CEP164):c.3297C>G (p.Val1099=) GRCh37: Chr11:117267825 GRCh38: Chr11:117397109	CEP164		Nephronophthisis 15	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 215086181.	NM_014956.5(CEP164):c.2493+8C>T GRCh37: Chr11:117263351 GRCh38: Chr11:117392635	CEP164		Nephronophthisis 15	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 215037782.	NM_014956.5(CEP164):c.2801G>A (p.Arg934Lys) GRCh37: Chr11:117265676 GRCh38: Chr11:117394960	CEP164	R934K, R937K	Nephronophthisis 15	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 215023683.	NM_014956.5(CEP164):c.1233+16G>A GRCh37: Chr11:117244563 GRCh38: Chr11:117373847	CEP164		Nephronophthisis 15	Likely benign (Jan 27, 2022)	criteria provided, single submitter
Select item 214925584.	NM_014956.5(CEP164):c.2724G>A (p.Lys908=) GRCh37: Chr11:117265173 GRCh38: Chr11:117394457	CEP164		Nephronophthisis 15	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 214923785.	NM_014956.5(CEP164):c.278G>A (p.Arg93Gln) GRCh37: Chr11:117222589 GRCh38: Chr11:117351873	CEP164	R93Q	Nephronophthisis 15	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 214917186.	NM_014956.5(CEP164):c.151C>T (p.Arg51Ter) GRCh37: Chr11:117214950 GRCh38: Chr11:117344234	CEP164	R51*	Nephronophthisis 15	Pathogenic (Apr 20, 2022)	criteria provided, single submitter
Select item 214907987.	NM_014956.5(CEP164):c.2769G>C (p.Lys923Asn) GRCh37: Chr11:117265644 GRCh38: Chr11:117394928	CEP164	K926N, K923N	Nephronophthisis 15, Inborn genetic diseases	Uncertain significance (May 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214731288.	NM_014956.5(CEP164):c.765+7_765+16del GRCh37: Chr11:117234229-117234238 GRCh38: Chr11:117363513-117363522	CEP164		Nephronophthisis 15	Likely benign (May 10, 2022)	criteria provided, single submitter
Select item 214731189.	NM_014956.5(CEP164):c.765+4A>T GRCh37: Chr11:117234226 GRCh38: Chr11:117363510	CEP164		Nephronophthisis 15	Uncertain significance (May 10, 2022)	criteria provided, single submitter
Select item 214730990.	NM_014956.5(CEP164):c.765+3A>G GRCh37: Chr11:117234225 GRCh38: Chr11:117363509	CEP164		Nephronophthisis 15	Uncertain significance (May 10, 2022)	criteria provided, single submitter
Select item 214713991.	NM_014956.5(CEP164):c.3322G>T (p.Val1108Leu) GRCh37: Chr11:117267850 GRCh38: Chr11:117397134	CEP164	V1111L, V1108L	Nephronophthisis 15	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 214701992.	NM_014956.5(CEP164):c.3379C>G (p.Arg1127Gly) GRCh37: Chr11:117267907 GRCh38: Chr11:117397191	CEP164	R1127G, R1130G	Nephronophthisis 15	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 214628593.	NM_014956.5(CEP164):c.82+19G>C GRCh37: Chr11:117209403 GRCh38: Chr11:117338687	CEP164		Nephronophthisis 15	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 214626694.	NM_014956.5(CEP164):c.3089+16T>C GRCh37: Chr11:117266454 GRCh38: Chr11:117395738	CEP164		Nephronophthisis 15	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 214623495.	NM_014956.5(CEP164):c.553-14_553-12del GRCh37: Chr11:117233104-117233106 GRCh38: Chr11:117362388-117362390	CEP164		Nephronophthisis 15	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 214483796.	NM_014956.5(CEP164):c.1247G>A (p.Arg416His) GRCh37: Chr11:117246437 GRCh38: Chr11:117375721	CEP164	R416H	Nephronophthisis 15	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 214360097.	NM_014956.5(CEP164):c.3875C>T (p.Pro1292Leu) GRCh37: Chr11:117280460 GRCh38: Chr11:117409744	CEP164	P1287L, P1292L	Nephronophthisis 15	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 214313198.	NM_014956.5(CEP164):c.1771G>A (p.Ala591Thr) GRCh37: Chr11:117257965 GRCh38: Chr11:117387249	CEP164	A591T, A594T	Nephronophthisis 15	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 214093099.	NM_014956.5(CEP164):c.3355_3356inv (p.Gln1119Trp) GRCh37: Chr11:117267883-117267884 GRCh38: Chr11:117397167-117397168	CEP164	Q1122W, Q1119W	Nephronophthisis 15	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 2140327100.	NM_014956.5(CEP164):c.192A>G (p.Pro64=) GRCh37: Chr11:117214991 GRCh38: Chr11:117344275	CEP164		Nephronophthisis 15	Likely benign (Dec 18, 2021)	criteria provided, single submitter

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