Cldn1 Variant Search Result - Rat Genome Database

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845 records found for search term Cldn1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405278696	CV3220910	single nucleotide variant	NM_021101.5(CLDN1):c.*7G>A	CLDN1-related disorder [RCV003969071]	likely benign	3	190308270	190308270	Human		name , trait , alternate_id
408379892	CV3515896	single nucleotide variant	NM_021101.5(CLDN1):c.-3G>A	CLDN1-related disorder [RCV004752418]	likely benign	3	190322209	190322209	Human		name , trait , alternate_id
11550492	CV251067	single nucleotide variant	NM_021101.5(CLDN1):c.-13G>C	not provided [RCV001689906]\|not specified [RCV000251825]	benign	3	190322219	190322219	Human		name
150337028	CV1171090	single nucleotide variant	NM_021101.5(CLDN1):c.*102G>A	not provided [RCV001541359]	benign	3	190308175	190308175	Human		name
150486103	CV1250363	single nucleotide variant	NM_021101.5(CLDN1):c.-212G>T	not provided [RCV001673976]	benign	3	190322418	190322418	Human		name
150493902	CV1257650	single nucleotide variant	NM_021101.5(CLDN1):c.*261C>A	not provided [RCV001675323]	benign	3	190308016	190308016	Human		name
10051603	CV193666	single nucleotide variant	NM_021101.5(CLDN1):c.473+6G>A	not provided [RCV002516735]\|not specified [RCV000177324]	likely benign\|uncertain significance	3	190310163	190310163	Human		name
156276382	CV2004963	single nucleotide variant	NM_021101.5(CLDN1):c.224-5G>A	not provided [RCV002646698]	likely benign	3	190313041	190313041	Human		name
156121650	CV2107670	single nucleotide variant	NM_021101.5(CLDN1):c.473+5C>T	not provided [RCV002914190]	uncertain significance	3	190310164	190310164	Human		name
13516784	CV489443	single nucleotide variant	NM_021101.5(CLDN1):c.223+9A>C	not provided [RCV000595962]	uncertain significance	3	190321975	190321975	Human		name
13515943	CV493760	single nucleotide variant	NM_021101.5(CLDN1):c.388+6A>G	not provided [RCV000594910]	uncertain significance	3	190312866	190312866	Human		name
13833751	CV584989	single nucleotide variant	NM_021101.5(CLDN1):c.388+4A>G	not provided [RCV000729100]	uncertain significance	3	190312868	190312868	Human		name
155966448	CV2142572	single nucleotide variant	NM_021101.5(CLDN1):c.473+14G>A	not provided [RCV002995410]	likely benign	3	190310155	190310155	Human		name
597843535	CV3737985	single nucleotide variant	NM_021101.5(CLDN1):c.474-13T>C	not provided [RCV005074584]	likely benign	3	190308452	190308452	Human		name
597842410	CV3746323	single nucleotide variant	NM_021101.5(CLDN1):c.473+16C>T	not provided [RCV005060141]	likely benign	3	190310153	190310153	Human		name
597844735	CV3753005	single nucleotide variant	NM_021101.5(CLDN1):c.473+17G>A	not provided [RCV005086734]	likely benign	3	190310152	190310152	Human		name
150510470	CV1211711	single nucleotide variant	NM_021101.5(CLDN1):c.224-207T>C	not provided [RCV001597606]	benign	3	190313243	190313243	Human		name
150463395	CV1214780	single nucleotide variant	NM_021101.5(CLDN1):c.224-164C>T	not provided [RCV001613775]	benign	3	190313200	190313200	Human		name
150489437	CV1236366	single nucleotide variant	NM_021101.5(CLDN1):c.223+172C>G	not provided [RCV001654507]	benign	3	190321812	190321812	Human		name
150493520	CV1238685	single nucleotide variant	NM_021101.5(CLDN1):c.474-155G>A	not provided [RCV001655229]	benign	3	190308594	190308594	Human		name
150452187	CV1254927	single nucleotide variant	NM_021101.5(CLDN1):c.388+135C>T	not provided [RCV001667986]	benign	3	190312737	190312737	Human		name
150467658	CV1255942	single nucleotide variant	NM_021101.5(CLDN1):c.474-268T>C	not provided [RCV001670576]	benign	3	190308707	190308707	Human		name
150454392	CV1265997	single nucleotide variant	NM_021101.5(CLDN1):c.389-230T>A	not provided [RCV001692574]	benign	3	190310483	190310483	Human		name
11548454	CV251066	single nucleotide variant	NM_021101.5(CLDN1):c.15G>A (p.Gly5=)	not provided [RCV000911473]\|not specified [RCV000249113]	benign	3	190322192	190322192	Human		name
405277894	CV3205676	single nucleotide variant	NM_021101.5(CLDN1):c.18G>C (p.Leu6=)	CLDN1-related disorder [RCV003959803]	likely benign	3	190322189	190322189	Human		name , trait , alternate_id
402476917	CV3070216	single nucleotide variant	NM_021101.5(CLDN1):c.60C>T (p.Gly20=)	CLDN1-related disorder [RCV003893344]\|not provided [RCV003734804]	likely benign	3	190322147	190322147	Human	1	name , trait , alternate_id
15127386	CV781631	single nucleotide variant	NM_021101.5(CLDN1):c.66C>T (p.Ile22=)	not provided [RCV000980538]	likely benign	3	190322141	190322141	Human		name
156163128	CV1933314	single nucleotide variant	NM_021101.5(CLDN1):c.270G>A (p.Leu90=)	not provided [RCV002624449]	likely benign	3	190312990	190312990	Human		name
11544858	CV251065	single nucleotide variant	NM_021101.5(CLDN1):c.108C>T (p.Ala36=)	not provided [RCV002058306]\|not specified [RCV000244356]	benign	3	190322099	190322099	Human		name
11642247	CV269739	single nucleotide variant	NM_021101.5(CLDN1):c.147G>A (p.Gly49=)	not provided [RCV000973681]\|not specified [RCV000370360]	benign	3	190322060	190322060	Human		name
11643461	CV273436	single nucleotide variant	NM_021101.5(CLDN1):c.195A>G (p.Lys65=)	CLDN1-related disorder [RCV003957502]\|not provided [RCV000393229]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	190322012	190322012	Human	1	name , trait , alternate_id
402511355	CV2890477	single nucleotide variant	NM_021101.5(CLDN1):c.231G>A (p.Leu77=)	not provided [RCV003573232]	likely benign	3	190313029	190313029	Human		name
402473424	CV3012160	single nucleotide variant	NM_021101.5(CLDN1):c.150G>T (p.Leu50=)	not provided [RCV003690694]	likely benign	3	190322057	190322057	Human		name
405272017	CV3201349	single nucleotide variant	NM_021101.5(CLDN1):c.105T>C (p.Tyr35=)	CLDN1-related disorder [RCV003901412]	likely benign	3	190322102	190322102	Human		name , trait , alternate_id
405280625	CV3222477	single nucleotide variant	NM_021101.5(CLDN1):c.19C>T (p.Gln7Ter)	Neonatal ichthyosis-sclerosing cholangitis syndrome [RCV003985973]	likely pathogenic	3	190322188	190322188	Human	1	name
13523117	CV492514	single nucleotide variant	NM_021101.5(CLDN1):c.111C>A (p.Gly37=)	not provided [RCV000592597]	uncertain significance	3	190322096	190322096	Human		name
13835044	CV586298	single nucleotide variant	NM_021101.5(CLDN1):c.14G>T (p.Gly5Val)	not provided [RCV000730737]	uncertain significance	3	190322193	190322193	Human		name
150466239	CV1277371	single nucleotide variant	NM_021101.5(CLDN1):c.366G>A (p.Gly122=)	not provided [RCV001710666]	benign	3	190312894	190312894	Human		name
151785445	CV1351077	single nucleotide variant	NM_021101.5(CLDN1):c.53G>A (p.Trp18Ter)	not provided [RCV001891610]	pathogenic	3	190322154	190322154	Human		name
10048196	CV192528	single nucleotide variant	NM_021101.5(CLDN1):c.369T>C (p.Gly123=)	Neonatal ichthyosis-sclerosing cholangitis syndrome [RCV001579232]\|not provided [RCV001689713]\|not specified [RCV000175932]	benign	3	190312891	190312891	Human	1	name
156057623	CV2151360	single nucleotide variant	NM_021101.5(CLDN1):c.541C>T (p.Leu181=)	not provided [RCV003019614]	likely benign	3	190308372	190308372	Human		name
156206638	CV2297982	single nucleotide variant	NM_021101.5(CLDN1):c.41C>A (p.Ala14Asp)	Inborn genetic diseases [RCV002875187]	uncertain significance	3	190322166	190322166	Human	1	name
11639189	CV272386	single nucleotide variant	NM_021101.5(CLDN1):c.41C>T (p.Ala14Val)	CLDN1-related disorder [RCV003930147]\|Neonatal ichthyosis-sclerosing cholangitis syndrome [RCV005355604]\|not provided [RCV000316580]	likely benign\|uncertain significance	3	190322166	190322166	Human	1	name , trait , alternate_id
402473965	CV3021084	single nucleotide variant	NM_021101.5(CLDN1):c.510T>G (p.Ala170=)	not provided [RCV003701044]	likely benign	3	190308403	190308403	Human		name
404983359	CV3121600	single nucleotide variant	NM_021101.5(CLDN1):c.372G>A (p.Ala124=)	not provided [RCV003826399]	likely benign	3	190312888	190312888	Human		name
405280297	CV3218255	single nucleotide variant	NM_021101.5(CLDN1):c.408C>T (p.Ala136=)	CLDN1-related disorder [RCV003983657]	likely benign	3	190310234	190310234	Human		name , trait , alternate_id
405685568	CV3306580	single nucleotide variant	NM_021101.5(CLDN1):c.74C>T (p.Thr25Ile)	Inborn genetic diseases [RCV004444297]	uncertain significance	3	190322133	190322133	Human	1	name
408377888	CV3505803	single nucleotide variant	NM_021101.5(CLDN1):c.510T>C (p.Ala170=)	CLDN1-related disorder [RCV004732436]	likely benign	3	190308403	190308403	Human		name , trait , alternate_id
597733446	CV3732850	single nucleotide variant	NM_021101.5(CLDN1):c.89G>A (p.Trp30Ter)	Neonatal ichthyosis-sclerosing cholangitis syndrome [RCV005051216]	pathogenic	3	190322118	190322118	Human	1	name
597847000	CV3767696	single nucleotide variant	NM_021101.5(CLDN1):c.330C>T (p.Asp110=)	not provided [RCV005114497]	likely benign	3	190312930	190312930	Human		name
597849453	CV3797510	single nucleotide variant	NM_021101.5(CLDN1):c.462A>G (p.Pro154=)	not provided [RCV005138197]	likely benign	3	190310180	190310180	Human		name
13833282	CV584512	single nucleotide variant	NM_021101.5(CLDN1):c.432C>T (p.Ile144=)	not provided [RCV000728483]	uncertain significance	3	190310210	190310210	Human		name
13837217	CV588503	single nucleotide variant	NM_021101.5(CLDN1):c.618C>T (p.Ser206=)	not provided [RCV000733565]	uncertain significance	3	190308295	190308295	Human		name
150551844	CV1296267	single nucleotide variant	NM_021101.5(CLDN1):c.172A>T (p.Ser58Cys)	not provided [RCV001767277]	uncertain significance	3	190322035	190322035	Human		name
150536487	CV1312411	single nucleotide variant	NM_021101.5(CLDN1):c.141C>A (p.Tyr47Ter)	Neonatal ichthyosis-sclerosing cholangitis syndrome [RCV001780515]	pathogenic	3	190322066	190322066	Human	1	name
156292616	CV1926054	single nucleotide variant	NM_021101.5(CLDN1):c.203A>C (p.Asp68Ala)	not provided [RCV002647261]	uncertain significance	3	190322004	190322004	Human		name
8559106	CV21128	deletion	NM_021101.5(CLDN1):c.358del (p.Val120fs)	Neonatal ichthyosis-sclerosing cholangitis syndrome [RCV000006462]	pathogenic	3	190312902	190312902	Human	1	name
401747985	CV2715552	single nucleotide variant	NM_021101.5(CLDN1):c.289G>A (p.Val97Met)	Inborn genetic diseases [RCV003295116]	uncertain significance	3	190312971	190312971	Human	1	name
401902884	CV2797901	single nucleotide variant	NM_021101.5(CLDN1):c.263T>A (p.Ile88Asn)	CLDN1-related disorder [RCV003402843]	uncertain significance	3	190312997	190312997	Human		name , trait , alternate_id
405280098	CV3193623	single nucleotide variant	NM_021101.5(CLDN1):c.281C>A (p.Ala94Glu)	CLDN1-related disorder [RCV003982629]	uncertain significance	3	190312979	190312979	Human		name , trait , alternate_id
405277388	CV3211718	single nucleotide variant	NM_021101.5(CLDN1):c.188A>G (p.Gln63Arg)	CLDN1-related disorder [RCV003951521]	uncertain significance	3	190322019	190322019	Human		name , trait , alternate_id
405685543	CV3306576	single nucleotide variant	NM_021101.5(CLDN1):c.271G>A (p.Gly91Arg)	Inborn genetic diseases [RCV004444293]	uncertain significance	3	190312989	190312989	Human	1	name
13509279	CV481682	single nucleotide variant	NM_021101.5(CLDN1):c.192C>A (p.Cys64Ter)	not provided [RCV000579255]	pathogenic\|likely pathogenic	3	190322015	190322015	Human		name
13518275	CV493955	single nucleotide variant	NM_021101.5(CLDN1):c.242G>A (p.Arg81His)	Neonatal ichthyosis-sclerosing cholangitis syndrome [RCV005049616]\|not provided [RCV000597209]	pathogenic\|uncertain significance	3	190313018	190313018	Human	1	name
13838465	CV589768	single nucleotide variant	NM_021101.5(CLDN1):c.238A>G (p.Thr80Ala)	not provided [RCV000735165]	uncertain significance	3	190313022	190313022	Human		name
151787934	CV1341962	single nucleotide variant	NM_021101.5(CLDN1):c.464T>C (p.Val155Ala)	CLDN1-related disorder [RCV004752083]\|Inborn genetic diseases [RCV004041247]\|not provided [RCV001897336]	uncertain significance	3	190310178	190310178	Human	2	name , trait , alternate_id
156407097	CV1917986	single nucleotide variant	NM_021101.5(CLDN1):c.314T>C (p.Met105Thr)	not provided [RCV002606794]	uncertain significance	3	190312946	190312946	Human		name
156416269	CV1976500	single nucleotide variant	NM_021101.5(CLDN1):c.610C>A (p.Pro204Thr)	Inborn genetic diseases [RCV004064629]\|not provided [RCV002589612]	uncertain significance	3	190308303	190308303	Human	1	name
156241897	CV2053138	single nucleotide variant	NM_021101.5(CLDN1):c.525C>A (p.Cys175Ter)	not provided [RCV002791382]	uncertain significance	3	190308388	190308388	Human		name
156081702	CV2249078	single nucleotide variant	NM_021101.5(CLDN1):c.331G>A (p.Asp111Asn)	Inborn genetic diseases [RCV002797991]	uncertain significance	3	190312929	190312929	Human	1	name
156101183	CV2260314	single nucleotide variant	NM_021101.5(CLDN1):c.371C>T (p.Ala124Val)	Inborn genetic diseases [RCV002799136]\|not provided [RCV004798026]	likely benign\|uncertain significance	3	190312889	190312889	Human	1	name
156023620	CV2273787	single nucleotide variant	NM_021101.5(CLDN1):c.591G>T (p.Arg197Ser)	Inborn genetic diseases [RCV002844826]	uncertain significance	3	190308322	190308322	Human	1	name
11544632	CV251064	single nucleotide variant	NM_021101.5(CLDN1):c.370G>A (p.Ala124Thr)	not provided [RCV000892338]\|not specified [RCV000244049]	benign\|likely benign	3	190312890	190312890	Human		name
405271344	CV3201412	single nucleotide variant	NM_021101.5(CLDN1):c.512C>G (p.Ala171Gly)	CLDN1-related disorder [RCV003897170]	likely benign	3	190308401	190308401	Human		name , trait , alternate_id
405278747	CV3219472	single nucleotide variant	NM_021101.5(CLDN1):c.304A>C (p.Met102Leu)	CLDN1-related disorder [RCV003969692]	uncertain significance	3	190312956	190312956	Human		name , trait , alternate_id
405685549	CV3306577	single nucleotide variant	NM_021101.5(CLDN1):c.299T>C (p.Val100Ala)	Inborn genetic diseases [RCV004444294]	uncertain significance	3	190312961	190312961	Human	1	name
405685556	CV3306578	single nucleotide variant	NM_021101.5(CLDN1):c.433G>A (p.Val145Ile)	Inborn genetic diseases [RCV004444295]\|not provided [RCV004790669]	uncertain significance	3	190310209	190310209	Human	1	name
405685563	CV3306579	single nucleotide variant	NM_021101.5(CLDN1):c.484G>T (p.Gly162Cys)	Inborn genetic diseases [RCV004444296]	uncertain significance	3	190308429	190308429	Human	1	name
408379893	CV3516056	single nucleotide variant	NM_021101.5(CLDN1):c.518C>G (p.Ser173Cys)	CLDN1-related disorder [RCV004752428]	uncertain significance	3	190308395	190308395	Human		name , trait , alternate_id
408379895	CV3516569	single nucleotide variant	NM_021101.5(CLDN1):c.583A>G (p.Thr195Ala)	CLDN1-related disorder [RCV004752460]	uncertain significance	3	190308330	190308330	Human		name , trait , alternate_id
597699666	CV3660245	single nucleotide variant	NM_021101.5(CLDN1):c.310T>C (p.Cys104Arg)	Inborn genetic diseases [RCV004973947]	uncertain significance	3	190312950	190312950	Human	1	name
597699671	CV3660246	single nucleotide variant	NM_021101.5(CLDN1):c.565A>G (p.Lys189Glu)	Inborn genetic diseases [RCV004973948]	uncertain significance	3	190308348	190308348	Human	1	name
597699676	CV3660247	single nucleotide variant	NM_021101.5(CLDN1):c.572C>T (p.Thr191Ile)	Inborn genetic diseases [RCV004973949]	uncertain significance	3	190308341	190308341	Human	1	name
597699682	CV3660248	single nucleotide variant	NM_021101.5(CLDN1):c.458C>T (p.Thr153Ile)	Inborn genetic diseases [RCV004973950]	uncertain significance	3	190310184	190310184	Human	1	name
598242717	CV3948429	single nucleotide variant	NM_021101.5(CLDN1):c.558T>G (p.Cys186Trp)	Inborn genetic diseases [RCV005321788]	uncertain significance	3	190308355	190308355	Human	1	name
598242721	CV3948430	single nucleotide variant	NM_021101.5(CLDN1):c.323T>C (p.Leu108Ser)	Inborn genetic diseases [RCV005321789]	uncertain significance	3	190312937	190312937	Human	1	name
13516445	CV490762	single nucleotide variant	NM_021101.5(CLDN1):c.563G>A (p.Arg188Gln)	Inborn genetic diseases [RCV002532462]\|not provided [RCV000595533]	uncertain significance	3	190308350	190308350	Human	1	name
13515921	CV493142	single nucleotide variant	NM_021101.5(CLDN1):c.379C>A (p.Leu127Ile)	not provided [RCV000594883]	uncertain significance	3	190312881	190312881	Human		name
13519003	CV494022	single nucleotide variant	NM_021101.5(CLDN1):c.631G>A (p.Val211Met)	not provided [RCV000597724]	uncertain significance	3	190308282	190308282	Human		name
13833321	CV584551	single nucleotide variant	NM_021101.5(CLDN1):c.493C>G (p.Leu165Val)	not provided [RCV000728540]	uncertain significance	3	190308420	190308420	Human		name
13834380	CV585626	single nucleotide variant	NM_021101.5(CLDN1):c.298G>A (p.Val100Ile)	CLDN1-related disorder [RCV003420297]\|not provided [RCV000729877]	uncertain significance	3	190312962	190312962	Human	1	name , trait , alternate_id
13834578	CV585827	single nucleotide variant	NM_021101.5(CLDN1):c.382C>T (p.Leu128Phe)	not provided [RCV000730129]	uncertain significance	3	190312878	190312878	Human		name
13836130	CV587400	single nucleotide variant	NM_021101.5(CLDN1):c.500C>T (p.Thr167Ile)	not provided [RCV000732139]	uncertain significance	3	190308413	190308413	Human		name
152050923	CV1569561	inversion	NM_021101.5(CLDN1):c.369_370inv (p.Ala124Thr)	not provided [RCV002126857]	likely benign	3	190312890	190312891	Human		name
13837240	CV588527	indel	NM_021101.5(CLDN1):c.364_366delinsAGA (p.Gly122Arg)	not provided [RCV000733595]	uncertain significance	3	190312894	190312896	Human		name
8559105	CV21127	deletion	NM_021101.5(CLDN1):c.200_201del (p.Val66_Phe67insTer)	Neonatal ichthyosis-sclerosing cholangitis syndrome [RCV000006461]	pathogenic	3	190322006	190322007	Human	1	name
598218497	CV3895511	microsatellite	NM_021101.5(CLDN1):c.453_460dup (p.Pro154delinsLeuTer)	Neonatal ichthyosis-sclerosing cholangitis syndrome [RCV005360370]	likely pathogenic	3	190310181	190310182	Human		name
11585920	CV289720	single nucleotide variant	NM_006580.3(CLDN16):c.-6C>T	Primary hypomagnesemia [RCV000284333]	uncertain significance	3	190388114	190388114	Human	1	name
11592499	CV290488	single nucleotide variant	NM_006580.3(CLDN16):c.-5G>A	Primary hypomagnesemia [RCV000339326]	uncertain significance	3	190388115	190388115	Human	1	name
11596221	CV293566	single nucleotide variant	NM_006580.3(CLDN16):c.-3A>T	CLDN16-related disorder [RCV003950211]\|Primary hypomagnesemia [RCV000379857]\|not provided [RCV002280116]	likely benign\|uncertain significance	3	190388117	190388117	Human	2	name , trait , alternate_id
150456478	CV1260017	single nucleotide variant	NM_006984.5(CLDN10):c.*11T>G	not provided [RCV001681496]	benign	13	95578025	95578025	Human		name
150478746	CV1273348	single nucleotide variant	NM_182848.4(CLDN10):c.-78A>G	not provided [RCV001696551]	benign	13	95433756	95433756	Human		name
151830534	CV1362699	single nucleotide variant	NM_006580.4(CLDN16):c.-98G>A	not provided [RCV001993672]	uncertain significance	3	190388232	190388232	Human		name
151788864	CV1394120	single nucleotide variant	NM_006580.4(CLDN16):c.-68C>A	not provided [RCV002046904]	likely benign\|uncertain significance	3	190388262	190388262	Human		name
151881066	CV1395763	single nucleotide variant	NM_006580.4(CLDN16):c.-65G>A	not provided [RCV002036888]	uncertain significance	3	190388265	190388265	Human		name
151799123	CV1497611	single nucleotide variant	NM_006580.4(CLDN16):c.-23A>G	Inborn genetic diseases [RCV004612018]\|Primary hypomagnesemia [RCV005023482]\|not provided [RCV001952755]	uncertain significance	3	190388307	190388307	Human	2	name
156196953	CV1900870	single nucleotide variant	NM_006580.4(CLDN16):c.-41G>T	Inborn genetic diseases [RCV003294520]\|not provided [RCV002574607]	uncertain significance	3	190388289	190388289	Human	1	name
156274893	CV2056154	single nucleotide variant	NM_006580.4(CLDN16):c.-41G>C	not provided [RCV002806790]	uncertain significance	3	190388289	190388289	Human		name
155981731	CV2244108	single nucleotide variant	NM_006580.4(CLDN16):c.-62A>G	Inborn genetic diseases [RCV002777774]	uncertain significance	3	190388268	190388268	Human	1	name
156007616	CV2299747	single nucleotide variant	NM_006580.4(CLDN16):c.-63C>T	Inborn genetic diseases [RCV002883808]	likely benign	3	190388267	190388267	Human	1	name
329392233	CV2470497	single nucleotide variant	NM_006580.4(CLDN16):c.-25C>G	Inborn genetic diseases [RCV003217665]	uncertain significance	3	190388305	190388305	Human	1	name
11580816	CV266845	deletion	NM_006580.4(CLDN16):c.-45del	Primary hypomagnesemia [RCV000345256]\|not provided [RCV001520212]\|not specified [RCV000371570]	benign\|likely benign	3	190388283	190388283	Human	1	name
11593446	CV282284	single nucleotide variant	NM_148960.3(CLDN19):c.*19G>A	Renal hypomagnesemia 5 with ocular involvement [RCV000349106]	uncertain significance	1	42735067	42735067	Human	1	name
11587251	CV282535	single nucleotide variant	NM_148960.3(CLDN19):c.*91A>G	Renal hypomagnesemia 5 with ocular involvement [RCV000293636]\|not provided [RCV001683193]	benign\|likely benign	1	42734995	42734995	Human	1	name
11661147	CV289715	single nucleotide variant	NM_006580.3(CLDN16):c.-82A>G	Primary hypomagnesemia [RCV000373866]	uncertain significance	3	190388038	190388038	Human	1	name
11659297	CV290490	single nucleotide variant	NM_006580.4(CLDN16):c.*74A>G	Primary hypomagnesemia [RCV000356725]	uncertain significance	3	190410110	190410110	Human	1	name
11597109	CV294147	single nucleotide variant	NM_006580.4(CLDN16):c.-45G>C	Primary hypomagnesemia [RCV000390314]\|not provided [RCV001520213]\|not specified [RCV000616416]	benign	3	190388285	190388285	Human	1	name
405079626	CV3137118	single nucleotide variant	NM_006580.4(CLDN16):c.-18G>T	not provided [RCV003834017]	uncertain significance	3	190388312	190388312	Human		name
405685645	CV3306593	single nucleotide variant	NM_006580.4(CLDN16):c.-65G>T	Inborn genetic diseases [RCV004444311]	uncertain significance	3	190388265	190388265	Human	1	name
405685651	CV3306594	single nucleotide variant	NM_006580.4(CLDN16):c.-47G>A	Inborn genetic diseases [RCV004444312]	uncertain significance	3	190388283	190388283	Human	1	name
597631907	CV3660261	single nucleotide variant	NM_006580.4(CLDN16):c.-29G>A	Inborn genetic diseases [RCV004967872]	uncertain significance	3	190388301	190388301	Human	1	name
597662854	CV3709607	single nucleotide variant	NM_148960.3(CLDN19):c.-19C>T	Renal hypomagnesemia 5 with ocular involvement [RCV005028694]	likely benign	1	42740082	42740082	Human	1	name
15194057	CV763783	single nucleotide variant	NM_006580.4(CLDN16):c.-97C>T	not provided [RCV000933533]	likely benign	3	190388233	190388233	Human		name
28883711	CV864407	single nucleotide variant	NM_148960.3(CLDN19):c.*45G>A	Renal hypomagnesemia 5 with ocular involvement [RCV001097583]	uncertain significance	1	42735041	42735041	Human	1	name
28878401	CV888528	single nucleotide variant	NM_006580.3(CLDN16):c.-41C>T	Primary hypomagnesemia [RCV001148669]\|not provided [RCV004711549]	likely benign	3	190388079	190388079	Human	1	name
156336021	CV1966889	single nucleotide variant	NM_006580.4(CLDN16):c.-104C>T	not provided [RCV002601034]	uncertain significance	3	190388226	190388226	Human		name
155997030	CV2122644	single nucleotide variant	NM_006580.4(CLDN16):c.-149G>T	not provided [RCV002975001]	likely benign\|uncertain significance	3	190388181	190388181	Human		name
156187249	CV2195754	single nucleotide variant	NM_006580.4(CLDN16):c.-134G>A	Inborn genetic diseases [RCV002665667]	uncertain significance	3	190388196	190388196	Human	1	name
11596412	CV280540	single nucleotide variant	NM_148960.3(CLDN19):c.*523G>A	Renal hypomagnesemia 5 with ocular involvement [RCV000381940]	uncertain significance	1	42734563	42734563	Human	1	name
11591407	CV280544	single nucleotide variant	NM_148960.3(CLDN19):c.*231A>G	Renal hypomagnesemia 5 with ocular involvement [RCV000328599]\|not provided [RCV001689980]	benign	1	42734855	42734855	Human	1	name
11596498	CV280545	single nucleotide variant	NM_148960.3(CLDN19):c.*158G>A	Renal hypomagnesemia 5 with ocular involvement [RCV000383216]\|not provided [RCV001565127]	benign\|likely benign\|uncertain significance	1	42734928	42734928	Human	1	name
11645852	CV280546	single nucleotide variant	NM_148960.3(CLDN19):c.-145C>T	Renal hypomagnesemia 5 with ocular involvement [RCV000267235]	uncertain significance	1	42740208	42740208	Human	1	name
11654928	CV281001	single nucleotide variant	NM_148960.3(CLDN19):c.*639C>T	Renal hypomagnesemia 5 with ocular involvement [RCV000321893]	uncertain significance	1	42734447	42734447	Human	1	name
11645856	CV281004	single nucleotide variant	NM_148960.3(CLDN19):c.*536G>A	Renal Hypomagnesemia, Recessive [RCV000267508]	uncertain significance	1	42734550	42734550	Human	3	name
11586409	CV281005	single nucleotide variant	NM_148960.3(CLDN19):c.*257C>T	Renal hypomagnesemia 5 with ocular involvement [RCV000287609]	uncertain significance	1	42734829	42734829	Human	1	name
11594227	CV282283	single nucleotide variant	NM_148960.3(CLDN19):c.*845C>G	Renal hypomagnesemia 5 with ocular involvement [RCV000356878]	likely benign\|uncertain significance	1	42734241	42734241	Human	1	name
11587720	CV282499	single nucleotide variant	NM_148960.3(CLDN19):c.*873A>G	Renal hypomagnesemia 5 with ocular involvement [RCV000297408]	benign\|uncertain significance	1	42734213	42734213	Human	1	name
11582779	CV282515	single nucleotide variant	NM_148960.3(CLDN19):c.*735G>C	Renal hypomagnesemia 5 with ocular involvement [RCV000262039]	uncertain significance	1	42734351	42734351	Human	1	name
11594266	CV282526	single nucleotide variant	NM_148960.3(CLDN19):c.*547C>T	Renal hypomagnesemia 5 with ocular involvement [RCV000357592]	uncertain significance	1	42734539	42734539	Human	1	name
11590826	CV282531	deletion	NM_148960.3(CLDN19):c.*530del	Renal Hypomagnesemia, Recessive [RCV000322683]	likely benign	1	42734556	42734556	Human	3	name
11591235	CV282550	single nucleotide variant	NM_148960.3(CLDN19):c.-146G>A	Renal hypomagnesemia 5 with ocular involvement [RCV000326939]	uncertain significance	1	42740209	42740209	Human	1	name
11655044	CV289724	single nucleotide variant	NM_006580.4(CLDN16):c.*761A>G	Primary hypomagnesemia [RCV000322837]	uncertain significance	3	190410797	190410797	Human	1	name
11590430	CV290487	single nucleotide variant	NM_006580.3(CLDN16):c.-136T>C	Primary hypomagnesemia [RCV000319167]	uncertain significance	3	190387984	190387984	Human	1	name
11590720	CV290494	single nucleotide variant	NM_006580.4(CLDN16):c.*243C>T	Primary hypomagnesemia [RCV000321736]\|not provided [RCV004716058]	benign\|likely benign	3	190410279	190410279	Human	1	name
11661399	CV290500	single nucleotide variant	NM_006580.4(CLDN16):c.*249G>A	Primary hypomagnesemia [RCV000376270]	uncertain significance	3	190410285	190410285	Human	1	name
11586340	CV290501	single nucleotide variant	NM_006580.4(CLDN16):c.*794T>C	Primary hypomagnesemia [RCV000287462]\|not provided [RCV004716059]	benign	3	190410830	190410830	Human	1	name
11661995	CV293577	deletion	NM_006580.4(CLDN16):c.*768del	Primary hypomagnesemia [RCV000382082]	uncertain significance	3	190410804	190410804	Human	1	name
11593253	CV293578	single nucleotide variant	NM_006580.4(CLDN16):c.*842C>T	Primary hypomagnesemia [RCV000347137]\|not provided [RCV004717480]	benign\|likely benign	3	190410878	190410878	Human	1	name
11596519	CV293606	single nucleotide variant	NM_006580.4(CLDN16):c.*907A>G	Primary hypomagnesemia [RCV000383081]\|not provided [RCV004716060]	benign\|likely benign	3	190410943	190410943	Human	1	name
11582716	CV294163	single nucleotide variant	NM_006580.4(CLDN16):c.*204C>T	Primary hypomagnesemia [RCV000261849]\|not provided [RCV002225604]	benign\|likely benign	3	190410240	190410240	Human	1	name
11645822	CV294166	single nucleotide variant	NM_006580.4(CLDN16):c.*724A>C	Primary hypomagnesemia [RCV000267643]	uncertain significance	3	190410760	190410760	Human	1	name
11587232	CV294167	single nucleotide variant	NM_006580.4(CLDN16):c.*965G>A	Primary hypomagnesemia [RCV000293483]	uncertain significance	3	190411001	190411001	Human	1	name
405685662	CV3306596	single nucleotide variant	NM_006580.4(CLDN16):c.-140A>G	Inborn genetic diseases [RCV004444314]	likely benign	3	190388190	190388190	Human	1	name
28894062	CV864398	single nucleotide variant	NM_148960.3(CLDN19):c.*867C>G	Renal hypomagnesemia 5 with ocular involvement [RCV001101232]	uncertain significance	1	42734219	42734219	Human	1	name
28894064	CV864399	single nucleotide variant	NM_148960.3(CLDN19):c.*800C>T	Renal hypomagnesemia 5 with ocular involvement [RCV001101233]	uncertain significance	1	42734286	42734286	Human	1	name
28894068	CV864400	single nucleotide variant	NM_148960.3(CLDN19):c.*642G>A	Renal hypomagnesemia 5 with ocular involvement [RCV001101234]	uncertain significance	1	42734444	42734444	Human	1	name
28883371	CV864401	single nucleotide variant	NM_148960.3(CLDN19):c.*624C>T	Renal hypomagnesemia 5 with ocular involvement [RCV001097480]	uncertain significance	1	42734462	42734462	Human	1	name
28883375	CV864402	single nucleotide variant	NM_148960.3(CLDN19):c.*598G>T	Renal hypomagnesemia 5 with ocular involvement [RCV001097481]	uncertain significance	1	42734488	42734488	Human	1	name
28883383	CV864403	single nucleotide variant	NM_148960.3(CLDN19):c.*491C>T	Renal hypomagnesemia 5 with ocular involvement [RCV001097482]	uncertain significance	1	42734595	42734595	Human	1	name
28883389	CV864404	single nucleotide variant	NM_148960.3(CLDN19):c.*285C>A	Renal hypomagnesemia 5 with ocular involvement [RCV001097483]	uncertain significance	1	42734801	42734801	Human	1	name
28883701	CV864405	single nucleotide variant	NM_148960.3(CLDN19):c.*177C>A	Renal hypomagnesemia 5 with ocular involvement [RCV001097581]	uncertain significance	1	42734909	42734909	Human	1	name
28883706	CV864406	single nucleotide variant	NM_148960.3(CLDN19):c.*119C>T	Renal hypomagnesemia 5 with ocular involvement [RCV001097582]	uncertain significance	1	42734967	42734967	Human	1	name
28878394	CV864413	single nucleotide variant	NM_148960.3(CLDN19):c.-150C>T	Renal hypomagnesemia 5 with ocular involvement [RCV001095894]	uncertain significance	1	42740213	42740213	Human	1	name
28888296	CV887504	single nucleotide variant	NM_144492.2(CLDN14):c.*356T>C	Autosomal recessive nonsyndromic hearing loss 29 [RCV001138346]	uncertain significance	21	36460620	36460620	Human	1	name
28871504	CV888526	single nucleotide variant	NM_006580.3(CLDN16):c.-206G>T	Primary hypomagnesemia [RCV001145882]	uncertain significance	3	190387914	190387914	Human	1	name
28878396	CV888527	single nucleotide variant	NM_006580.3(CLDN16):c.-155C>T	Primary hypomagnesemia [RCV001148668]	uncertain significance	3	190387965	190387965	Human	1	name
28878408	CV888529	single nucleotide variant	NM_006580.4(CLDN16):c.-132G>A	Primary hypomagnesemia [RCV001148670]\|not provided [RCV001882457]	uncertain significance	3	190388198	190388198	Human	1	name
28878413	CV888530	single nucleotide variant	NM_006580.4(CLDN16):c.-116G>T	Inborn genetic diseases [RCV003373000]\|Primary hypomagnesemia [RCV001148671]\|not provided [RCV001858974]	uncertain significance	3	190388214	190388214	Human	2	name
28871742	CV888538	single nucleotide variant	NM_006580.4(CLDN16):c.*181C>T	Primary hypomagnesemia [RCV001145993]\|not provided [RCV004711543]	likely benign	3	190410217	190410217	Human	1	name
28871746	CV888539	single nucleotide variant	NM_006580.4(CLDN16):c.*299A>G	Primary hypomagnesemia [RCV001145994]	uncertain significance	3	190410335	190410335	Human	1	name
28871750	CV888540	single nucleotide variant	NM_006580.4(CLDN16):c.*493T>C	Primary hypomagnesemia [RCV001145995]	uncertain significance	3	190410529	190410529	Human	1	name
28878743	CV888541	single nucleotide variant	NM_006580.4(CLDN16):c.*495A>T	Primary hypomagnesemia [RCV001148776]	uncertain significance	3	190410531	190410531	Human	1	name
28878748	CV888542	single nucleotide variant	NM_006580.4(CLDN16):c.*541A>G	Primary hypomagnesemia [RCV001148777]	uncertain significance	3	190410577	190410577	Human	1	name
28878752	CV888543	single nucleotide variant	NM_006580.4(CLDN16):c.*586G>T	Primary hypomagnesemia [RCV001148778]	uncertain significance	3	190410622	190410622	Human	1	name
28878755	CV888544	single nucleotide variant	NM_006580.4(CLDN16):c.*769A>C	Primary hypomagnesemia [RCV001148779]	uncertain significance	3	190410805	190410805	Human	1	name
38598687	CV888545	single nucleotide variant	NM_006580.4(CLDN16):c.*868A>C	Primary hypomagnesemia [RCV001253970]	uncertain significance	3	190410904	190410904	Human	1	name
151811713	CV1350645	single nucleotide variant	NM_006580.4(CLDN16):c.217+1G>A	Primary hypomagnesemia [RCV005025679]\|not provided [RCV002048920]	likely pathogenic	3	190402440	190402440	Human	1	name
152096526	CV1583591	single nucleotide variant	NM_148960.3(CLDN19):c.223+9C>G	not provided [RCV002132707]	likely benign	1	42739832	42739832	Human		name
152999558	CV1679905	single nucleotide variant	NM_148960.3(CLDN19):c.474-1G>C	Renal hypomagnesemia 5 with ocular involvement [RCV002251295]	pathogenic	1	42736031	42736031	Human	1	name
155961814	CV1922536	single nucleotide variant	NM_006580.4(CLDN16):c.382+8T>C	not provided [RCV002616768]	likely benign	3	190404934	190404934	Human		name
156220627	CV2104768	single nucleotide variant	NM_148960.3(CLDN19):c.223+3A>T	not provided [RCV002932442]	uncertain significance	1	42739838	42739838	Human		name
156226761	CV2176479	single nucleotide variant	NM_148960.3(CLDN19):c.474-1G>A	not provided [RCV003059154]	likely pathogenic	1	42736031	42736031	Human		name
401855516	CV2752796	single nucleotide variant	NM_148960.3(CLDN19):c.473+1G>T	Renal hypomagnesemia 5 with ocular involvement [RCV003337850]	uncertain significance	1	42738228	42738228	Human	1	name
11586163	CV280525	single nucleotide variant	NM_148960.3(CLDN19):c.*1698A>G	Renal hypomagnesemia 5 with ocular involvement [RCV000285914]	uncertain significance	1	42733388	42733388	Human	1	name
11664064	CV280526	single nucleotide variant	NM_148960.3(CLDN19):c.*1621T>C	Renal hypomagnesemia 5 with ocular involvement [RCV000402082]	uncertain significance	1	42733465	42733465	Human	1	name
11650245	CV280531	single nucleotide variant	NM_148960.3(CLDN19):c.*1483G>T	Renal hypomagnesemia 5 with ocular involvement [RCV000291698]	uncertain significance	1	42733603	42733603	Human	1	name
11654107	CV280532	single nucleotide variant	NM_148960.3(CLDN19):c.*1312G>A	Renal hypomagnesemia 5 with ocular involvement [RCV000314909]	uncertain significance	1	42733774	42733774	Human	1	name
11660737	CV280539	single nucleotide variant	NM_148960.3(CLDN19):c.*1073G>A	Renal hypomagnesemia 5 with ocular involvement [RCV000369631]	uncertain significance	1	42734013	42734013	Human	1	name
11593198	CV280962	single nucleotide variant	NM_148960.3(CLDN19):c.*1428A>G	Renal hypomagnesemia 5 with ocular involvement [RCV000346559]	uncertain significance	1	42733658	42733658	Human	1	name
11597869	CV280983	single nucleotide variant	NM_148960.3(CLDN19):c.*1353G>A	Renal hypomagnesemia 5 with ocular involvement [RCV000398789]	uncertain significance	1	42733733	42733733	Human	1	name
11597184	CV280987	single nucleotide variant	NM_148960.3(CLDN19):c.*1018G>T	Renal hypomagnesemia 5 with ocular involvement [RCV000390920]	benign\|likely benign	1	42734068	42734068	Human	1	name
11590623	CV282281	single nucleotide variant	NM_148960.3(CLDN19):c.*1760C>T	Renal hypomagnesemia 5 with ocular involvement [RCV000321064]	benign\|likely benign	1	42733326	42733326	Human	1	name
11596258	CV282282	single nucleotide variant	NM_148960.3(CLDN19):c.*1733G>A	Renal hypomagnesemia 5 with ocular involvement [RCV000380298]\|not provided [RCV004713676]	benign\|likely benign	1	42733353	42733353	Human	1	name
11593111	CV282498	single nucleotide variant	NM_148960.3(CLDN19):c.*1642T>C	Renal hypomagnesemia 5 with ocular involvement [RCV000345414]\|not provided [RCV004713677]	benign	1	42733444	42733444	Human	1	name
405201765	CV2861368	single nucleotide variant	NM_148960.3(CLDN19):c.474-6T>C	not provided [RCV003551456]	likely benign	1	42736036	42736036	Human		name
405019617	CV2866217	single nucleotide variant	NM_148960.3(CLDN19):c.224-7A>T	not provided [RCV003577478]	likely benign	1	42738592	42738592	Human		name
11589861	CV289725	single nucleotide variant	NM_006580.4(CLDN16):c.*1178C>T	Primary hypomagnesemia [RCV000314143]	likely benign\|uncertain significance	3	190411214	190411214	Human	1	name
11592180	CV290508	single nucleotide variant	NM_006580.4(CLDN16):c.*1313G>A	Primary hypomagnesemia [RCV000336361]	uncertain significance	3	190411349	190411349	Human	1	name
11663983	CV290510	single nucleotide variant	NM_006580.4(CLDN16):c.*1333A>G	Primary hypomagnesemia [RCV000401430]	uncertain significance	3	190411369	190411369	Human	1	name
11593454	CV293610	single nucleotide variant	NM_006580.4(CLDN16):c.*1117G>A	Primary hypomagnesemia [RCV000349245]\|not provided [RCV004716061]	benign\|likely benign	3	190411153	190411153	Human	1	name
11659247	CV293621	single nucleotide variant	NM_006580.4(CLDN16):c.*1377T>A	Primary hypomagnesemia [RCV000356331]	uncertain significance	3	190411413	190411413	Human	1	name
11659805	CV293622	single nucleotide variant	NM_006580.4(CLDN16):c.*1559C>A	Primary hypomagnesemia [RCV000361582]	uncertain significance	3	190411595	190411595	Human	1	name
11591256	CV293624	single nucleotide variant	NM_006580.4(CLDN16):c.*1763T>A	Primary hypomagnesemia [RCV000327086]\|not provided [RCV004717481]	benign	3	190411799	190411799	Human	1	name
11596369	CV293644	single nucleotide variant	NM_006580.4(CLDN16):c.*1779A>C	Primary hypomagnesemia [RCV000381657]\|not provided [RCV004717482]	benign\|likely benign	3	190411815	190411815	Human	1	name
11663943	CV294173	single nucleotide variant	NM_006580.4(CLDN16):c.*1170G>A	Primary hypomagnesemia [RCV000401121]	uncertain significance	3	190411206	190411206	Human	1	name
11588215	CV294176	single nucleotide variant	NM_006580.4(CLDN16):c.*1348A>G	Primary hypomagnesemia [RCV000301395]	uncertain significance	3	190411384	190411384	Human	1	name
11583360	CV294177	single nucleotide variant	NM_006580.4(CLDN16):c.*1453G>C	Primary hypomagnesemia [RCV000266273]	benign\|uncertain significance	3	190411489	190411489	Human	1	name
11588315	CV294178	single nucleotide variant	NM_006580.4(CLDN16):c.*1491A>G	Primary hypomagnesemia [RCV000302143]	uncertain significance	3	190411527	190411527	Human	1	name
11645768	CV294179	single nucleotide variant	NM_006580.4(CLDN16):c.*1733A>G	Primary hypomagnesemia [RCV000267352]	uncertain significance	3	190411769	190411769	Human	1	name
11584346	CV294182	single nucleotide variant	NM_006580.4(CLDN16):c.*2098T>G	Primary hypomagnesemia [RCV000273196]\|not provided [RCV004716062]	benign\|likely benign	3	190412134	190412134	Human	1	name
405101542	CV2948256	single nucleotide variant	NM_148960.3(CLDN19):c.223+8C>T	not provided [RCV003666191]	likely benign	1	42739833	42739833	Human		name
405279751	CV3200100	single nucleotide variant	NM_006580.4(CLDN16):c.382+5C>T	CLDN16-related disorder [RCV003977046]	likely benign	3	190404931	190404931	Human		name , trait , alternate_id
405656534	CV3227884	single nucleotide variant	NM_006580.4(CLDN16):c.574+2T>C	Primary hypomagnesemia [RCV003994626]	likely pathogenic	3	190408507	190408507	Human	1	name
407454070	CV3416457	single nucleotide variant	NM_148960.3(CLDN19):c.473+8C>T	not provided [RCV004597715]	uncertain significance	1	42738221	42738221	Human		name
597750924	CV3709426	single nucleotide variant	NM_148960.3(CLDN19):c.626+7C>A	Renal hypomagnesemia 5 with ocular involvement [RCV005015751]\|not provided [RCV005063227]	likely benign\|uncertain significance	1	42735871	42735871	Human	1	name
597750951	CV3709437	single nucleotide variant	NM_148960.3(CLDN19):c.626+5G>A	Renal hypomagnesemia 5 with ocular involvement [RCV005015756]	uncertain significance	1	42735873	42735873	Human	1	name
597662625	CV3709538	single nucleotide variant	NM_148960.3(CLDN19):c.223+1G>A	Renal hypomagnesemia 5 with ocular involvement [RCV005028663]	likely pathogenic	1	42739840	42739840	Human	1	name
597637945	CV3717424	single nucleotide variant	NM_006580.4(CLDN16):c.114+5G>T	Primary hypomagnesemia [RCV005024567]	uncertain significance	3	190388448	190388448	Human	1	name
597638560	CV3717429	single nucleotide variant	NM_006580.4(CLDN16):c.217+4C>A	Primary hypomagnesemia [RCV005024570]	uncertain significance	3	190402443	190402443	Human	1	name
597638565	CV3717430	single nucleotide variant	NM_006580.4(CLDN16):c.217+4C>G	Primary hypomagnesemia [RCV005024571]	uncertain significance	3	190402443	190402443	Human	1	name
597637988	CV3717434	single nucleotide variant	NM_006580.4(CLDN16):c.382+5C>G	Primary hypomagnesemia [RCV005024574]	uncertain significance	3	190404931	190404931	Human	1	name
15015294	CV679900	single nucleotide variant	NM_006580.4(CLDN16):c.217+5G>A	Primary hypomagnesemia [RCV000853501]\|not provided [RCV005092533]	pathogenic\|likely pathogenic	3	190402444	190402444	Human	1	name
15129538	CV759272	single nucleotide variant	NM_006580.4(CLDN16):c.115-7C>T	not provided [RCV000919849]	likely benign	3	190402330	190402330	Human		name
28883074	CV864383	single nucleotide variant	NM_148960.3(CLDN19):c.*1965T>G	Renal hypomagnesemia 5 with ocular involvement [RCV001097382]	uncertain significance	1	42733121	42733121	Human	1	name
28883080	CV864384	single nucleotide variant	NM_148960.3(CLDN19):c.*1925T>C	Renal hypomagnesemia 5 with ocular involvement [RCV001097383]	uncertain significance	1	42733161	42733161	Human	1	name
28883086	CV864385	single nucleotide variant	NM_148960.3(CLDN19):c.*1919G>A	Renal hypomagnesemia 5 with ocular involvement [RCV001097384]	uncertain significance	1	42733167	42733167	Human	1	name
28883089	CV864386	single nucleotide variant	NM_148960.3(CLDN19):c.*1909G>A	Renal hypomagnesemia 5 with ocular involvement [RCV001097385]	uncertain significance	1	42733177	42733177	Human	1	name
28883095	CV864387	single nucleotide variant	NM_148960.3(CLDN19):c.*1908C>T	Renal hypomagnesemia 5 with ocular involvement [RCV001097386]	uncertain significance	1	42733178	42733178	Human	1	name
28883098	CV864388	single nucleotide variant	NM_148960.3(CLDN19):c.*1829A>G	Renal hypomagnesemia 5 with ocular involvement [RCV001097387]	uncertain significance	1	42733257	42733257	Human	1	name
28883103	CV864389	single nucleotide variant	NM_148960.3(CLDN19):c.*1822C>T	Renal hypomagnesemia 5 with ocular involvement [RCV001097388]	uncertain significance	1	42733264	42733264	Human	1	name
28883110	CV864390	single nucleotide variant	NM_148960.3(CLDN19):c.*1772A>C	Renal hypomagnesemia 5 with ocular involvement [RCV001097389]	uncertain significance	1	42733314	42733314	Human	1	name
28888556	CV864391	single nucleotide variant	NM_148960.3(CLDN19):c.*1357C>T	Renal hypomagnesemia 5 with ocular involvement [RCV001099135]	uncertain significance	1	42733729	42733729	Human	1	name
28888870	CV864392	single nucleotide variant	NM_148960.3(CLDN19):c.*1336T>C	Renal hypomagnesemia 5 with ocular involvement [RCV001099231]	uncertain significance	1	42733750	42733750	Human	1	name
28888874	CV864393	single nucleotide variant	NM_148960.3(CLDN19):c.*1327T>C	Renal hypomagnesemia 5 with ocular involvement [RCV001099232]	benign	1	42733759	42733759	Human	1	name
28888878	CV864394	single nucleotide variant	NM_148960.3(CLDN19):c.*1312G>T	Renal hypomagnesemia 5 with ocular involvement [RCV001099233]	uncertain significance	1	42733774	42733774	Human	1	name
28888882	CV864395	single nucleotide variant	NM_148960.3(CLDN19):c.*1172C>T	Renal hypomagnesemia 5 with ocular involvement [RCV001099234]	uncertain significance	1	42733914	42733914	Human	1	name
28888887	CV864396	single nucleotide variant	NM_148960.3(CLDN19):c.*1072C>T	Renal hypomagnesemia 5 with ocular involvement [RCV001099235]	uncertain significance	1	42734014	42734014	Human	1	name
28894058	CV864397	single nucleotide variant	NM_148960.3(CLDN19):c.*1008C>T	Renal hypomagnesemia 5 with ocular involvement [RCV001101231]	uncertain significance	1	42734078	42734078	Human	1	name
28901507	CV886759	single nucleotide variant	NM_001146079.2(CLDN14):c.-5G>A	Autosomal recessive nonsyndromic hearing loss 29 [RCV001143201]\|not provided [RCV001571304]	likely benign\|uncertain significance	21	36461700	36461700	Human	1	name
38598632	CV888546	single nucleotide variant	NM_006580.4(CLDN16):c.*1022G>A	Primary hypomagnesemia [RCV001253910]	uncertain significance	3	190411058	190411058	Human	1	name
38598633	CV888547	single nucleotide variant	NM_006580.4(CLDN16):c.*1145A>G	Primary hypomagnesemia [RCV001253911]	uncertain significance	3	190411181	190411181	Human	1	name
38598634	CV888548	single nucleotide variant	NM_006580.4(CLDN16):c.*1156G>A	Primary hypomagnesemia [RCV001253912]	uncertain significance	3	190411192	190411192	Human	1	name
28903833	CV888549	single nucleotide variant	NM_006580.4(CLDN16):c.*1234A>C	Primary hypomagnesemia [RCV001144206]	benign	3	190411270	190411270	Human	1	name
28903834	CV888550	single nucleotide variant	NM_006580.4(CLDN16):c.*1427A>G	Primary hypomagnesemia [RCV001144207]	uncertain significance	3	190411463	190411463	Human	1	name
28872032	CV888551	single nucleotide variant	NM_006580.4(CLDN16):c.*1552T>G	Primary hypomagnesemia [RCV001146102]	uncertain significance	3	190411588	190411588	Human	1	name
28872035	CV888552	single nucleotide variant	NM_006580.4(CLDN16):c.*1793G>C	Primary hypomagnesemia [RCV001146103]	uncertain significance	3	190411829	190411829	Human	1	name
28879111	CV888553	single nucleotide variant	NM_006580.4(CLDN16):c.*1812A>G	Primary hypomagnesemia [RCV001148896]	likely benign	3	190411848	190411848	Human	1	name
28879113	CV888554	single nucleotide variant	NM_006580.4(CLDN16):c.*1817T>C	Primary hypomagnesemia [RCV001148897]	uncertain significance	3	190411853	190411853	Human	1	name
28879120	CV888555	single nucleotide variant	NM_006580.4(CLDN16):c.*1833G>A	Primary hypomagnesemia [RCV001148898]	benign	3	190411869	190411869	Human	1	name
28879125	CV888556	single nucleotide variant	NM_006580.4(CLDN16):c.*1872C>A	Primary hypomagnesemia [RCV001148899]	uncertain significance	3	190411908	190411908	Human	1	name
28879130	CV888557	single nucleotide variant	NM_006580.4(CLDN16):c.*1883T>G	Primary hypomagnesemia [RCV001148900]	uncertain significance	3	190411919	190411919	Human	1	name
28879135	CV888558	single nucleotide variant	NM_006580.4(CLDN16):c.*1952C>G	Primary hypomagnesemia [RCV001148901]	likely benign	3	190411988	190411988	Human	1	name
28879139	CV888559	single nucleotide variant	NM_006580.4(CLDN16):c.*2014T>C	Primary hypomagnesemia [RCV001148902]	uncertain significance	3	190412050	190412050	Human	1	name
28903577	CV891630	single nucleotide variant	NM_006580.4(CLDN16):c.575-7C>T	Primary hypomagnesemia [RCV001144098]\|not provided [RCV005093635]	likely benign\|uncertain significance	3	190409896	190409896	Human	1	name
126741018	CV1016219	single nucleotide variant	NM_006580.4(CLDN16):c.218-10G>A	Primary hypomagnesemia [RCV001329585]	uncertain significance	3	190404752	190404752	Human	1	name
150423474	CV1182933	duplication	NM_148960.3(CLDN19):c.627-36dup	not provided [RCV001555369]	likely benign	1	42735169	42735170	Human		name
150427626	CV1186204	single nucleotide variant	NM_148960.3(CLDN19):c.224-64C>A	not provided [RCV001561176]	likely benign	1	42738649	42738649	Human		name
150427648	CV1186571	single nucleotide variant	NM_006580.4(CLDN16):c.218-78T>G	not provided [RCV001561207]	likely benign	3	190404684	190404684	Human		name
150420689	CV1197056	single nucleotide variant	NM_006580.4(CLDN16):c.217+24G>T	not provided [RCV001577721]	likely benign	3	190402463	190402463	Human		name
150481864	CV1209865	single nucleotide variant	NM_001146079.2(CLDN14):c.-75G>A	not provided [RCV001590563]	likely benign	21	36461770	36461770	Human		name
150489717	CV1267492	single nucleotide variant	NM_148960.3(CLDN19):c.627-50C>T	not provided [RCV001687516]	benign	1	42735184	42735184	Human		name
150439499	CV1274749	single nucleotide variant	NM_148960.3(CLDN19):c.626+75C>G	Renal hypomagnesemia 5 with ocular involvement [RCV005361700]\|not provided [RCV001703343]	likely benign	1	42735803	42735803	Human	1	name
151662879	CV1333516	single nucleotide variant	NM_006580.4(CLDN16):c.115-30G>A	not provided [RCV001837708]	likely benign	3	190402307	190402307	Human		name
151889740	CV1394564	single nucleotide variant	NM_148960.3(CLDN19):c.388+19T>A	not provided [RCV001888246]	likely benign\|uncertain significance	1	42738402	42738402	Human		name
152060040	CV1536216	single nucleotide variant	NM_148960.3(CLDN19):c.627-20C>A	not provided [RCV002146664]	likely benign	1	42735154	42735154	Human		name
152088401	CV1577204	single nucleotide variant	NM_148960.3(CLDN19):c.223+11G>C	not provided [RCV002212385]	likely benign	1	42739830	42739830	Human		name
152111336	CV1640373	single nucleotide variant	NM_148960.3(CLDN19):c.223+14C>T	not provided [RCV002174372]	likely benign	1	42739827	42739827	Human		name
152126061	CV1641889	single nucleotide variant	NM_006580.4(CLDN16):c.218-14C>T	not provided [RCV002176194]	likely benign	3	190404748	190404748	Human		name
10051658	CV193735	single nucleotide variant	NM_001146079.2(CLDN14):c.*10G>C	Autosomal recessive nonsyndromic hearing loss 29 [RCV000299110]\|CLDN14-related disorder [RCV003891732]\|not provided [RCV001675657]\|not specified [RCV000177401]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	21	36460966	36460966	Human	1	name , trait , alternate_id
156314130	CV1966631	single nucleotide variant	NM_148960.3(CLDN19):c.223+15G>A	not provided [RCV002578855]	likely benign	1	42739826	42739826	Human		name
156419730	CV1974262	single nucleotide variant	NM_148960.3(CLDN19):c.223+17C>T	not provided [RCV002612971]	likely benign	1	42739824	42739824	Human		name
156000191	CV1987122	single nucleotide variant	NM_006580.4(CLDN16):c.574+13T>C	not provided [RCV002618408]	likely benign	3	190408518	190408518	Human		name
156405730	CV2004440	single nucleotide variant	NM_006580.4(CLDN16):c.575-16T>A	not provided [RCV002658382]	likely benign	3	190409887	190409887	Human		name
156284314	CV2012664	single nucleotide variant	NM_006580.4(CLDN16):c.383-13C>G	not provided [RCV002715403]	likely benign	3	190408301	190408301	Human		name
156085782	CV2034047	single nucleotide variant	NM_148960.3(CLDN19):c.223+20G>A	not provided [RCV002760772]	likely benign	1	42739821	42739821	Human		name
156083582	CV2060317	single nucleotide variant	NM_148960.3(CLDN19):c.627-20C>G	not provided [RCV002823936]	likely benign	1	42735154	42735154	Human		name
11544926	CV251068	single nucleotide variant	NM_006580.4(CLDN16):c.114+10T>C	Primary hypomagnesemia [RCV000399824]\|not provided [RCV001509688]\|not specified [RCV000244453]	benign	3	190388453	190388453	Human	1	name
11598064	CV282537	single nucleotide variant	NM_148960.3(CLDN19):c.626+15C>T	Renal hypomagnesemia 5 with ocular involvement [RCV000401216]\|not provided [RCV001512258]	benign	1	42735863	42735863	Human	1	name
11589991	CV294149	single nucleotide variant	NM_006580.4(CLDN16):c.114+13C>G	Primary hypomagnesemia [RCV000315060]\|not provided [RCV002057872]	likely benign\|uncertain significance	3	190388456	190388456	Human	1	name
11614400	CV336750	single nucleotide variant	NM_001146079.2(CLDN14):c.*51G>A	Autosomal recessive nonsyndromic hearing loss 29 [RCV000276784]\|not provided [RCV001597106]	benign\|likely benign	21	36460925	36460925	Human	1	name
11621539	CV336759	single nucleotide variant	NM_001146079.2(CLDN14):c.-46G>A	Autosomal recessive nonsyndromic hearing loss 29 [RCV000349612]\|not provided [RCV000842360]	likely benign\|uncertain significance	21	36461741	36461741	Human	1	name
11663278	CV351700	single nucleotide variant	NM_001146079.2(CLDN14):c.-54G>A	Autosomal recessive nonsyndromic hearing loss 29 [RCV000394465]	uncertain significance	21	36461749	36461749	Human	1	name
11629102	CV351701	single nucleotide variant	NM_001146079.2(CLDN14):c.-75G>T	Autosomal recessive nonsyndromic hearing loss 29 [RCV000314776]\|not provided [RCV001566094]	likely benign\|uncertain significance	21	36461770	36461770	Human	1	name
597836003	CV3739762	single nucleotide variant	NM_148960.3(CLDN19):c.224-15T>A	not provided [RCV005063982]	likely benign	1	42738600	42738600	Human		name
597971620	CV3750782	single nucleotide variant	NM_148960.3(CLDN19):c.388+14A>G	not provided [RCV005084526]	likely benign	1	42738407	42738407	Human		name
597969550	CV3753397	single nucleotide variant	NM_148960.3(CLDN19):c.626+16G>A	not provided [RCV005083882]	likely benign	1	42735862	42735862	Human		name
597927043	CV3783399	single nucleotide variant	NM_006580.4(CLDN16):c.218-20C>A	not provided [RCV005116086]	likely benign	3	190404742	190404742	Human		name
28888304	CV886752	single nucleotide variant	NM_001146079.2(CLDN14):c.*66G>A	Autosomal recessive nonsyndromic hearing loss 29 [RCV001138348]	uncertain significance	21	36460910	36460910	Human	1	name
28888308	CV886753	single nucleotide variant	NM_001146079.2(CLDN14):c.*48G>A	Autosomal recessive nonsyndromic hearing loss 29 [RCV001138349]\|not provided [RCV001544893]	likely benign\|uncertain significance	21	36460928	36460928	Human	1	name
28882419	CV886760	single nucleotide variant	NM_001146079.2(CLDN14):c.-76C>T	Autosomal recessive nonsyndromic hearing loss 29 [RCV001136623]	uncertain significance	21	36461771	36461771	Human	1	name
150336878	CV1172551	single nucleotide variant	NM_182848.4(CLDN10):c.214+179C>T	not provided [RCV001541250]	benign	13	95434226	95434226	Human		name
150421987	CV1179267	deletion	NM_148960.3(CLDN19):c.224-189del	not provided [RCV001552264]	likely benign	1	42738774	42738774	Human		name
150416362	CV1181915	duplication	NM_001146079.2(CLDN14):c.*214dup	not provided [RCV001549583]	likely benign	21	36460761	36460762	Human		name
150441812	CV1204611	single nucleotide variant	NM_148960.3(CLDN19):c.474-167G>T	not provided [RCV001583718]	likely benign	1	42736197	42736197	Human		name
150495705	CV1205073	single nucleotide variant	NM_006580.4(CLDN16):c.575-179A>T	not provided [RCV001593565]	likely benign	3	190409724	190409724	Human		name
150451241	CV1205368	single nucleotide variant	NM_006580.4(CLDN16):c.218-303T>G	not provided [RCV001585268]	likely benign	3	190404459	190404459	Human		name
150468183	CV1207379	single nucleotide variant	NM_148960.3(CLDN19):c.474-291A>G	not provided [RCV001588068]	likely benign	1	42736321	42736321	Human		name
150433214	CV1230449	single nucleotide variant	NM_006984.5(CLDN10):c.220+132A>C	not provided [RCV001643394]	benign	13	95553105	95553105	Human		name
150434511	CV1230806	single nucleotide variant	NM_006580.4(CLDN16):c.574+117A>G	not provided [RCV001643753]	benign	3	190408622	190408622	Human		name
150478551	CV1257166	single nucleotide variant	NM_006580.4(CLDN16):c.114+100T>A	not provided [RCV001672396]	benign	3	190388543	190388543	Human		name
150449719	CV1260858	single nucleotide variant	NM_006580.4(CLDN16):c.218-219A>G	not provided [RCV001680527]	benign	3	190404543	190404543	Human		name
150494300	CV1267326	single nucleotide variant	NM_006984.5(CLDN10):c.220+106C>T	not provided [RCV001688354]	benign	13	95553079	95553079	Human		name
150496535	CV1271553	single nucleotide variant	NM_006580.4(CLDN16):c.114+120A>G	not provided [RCV001688853]	benign	3	190388563	190388563	Human		name
150455051	CV1277119	single nucleotide variant	NM_148960.3(CLDN19):c.626+333T>G	not provided [RCV001708911]	benign	1	42735545	42735545	Human		name
150497952	CV1281670	single nucleotide variant	NM_006580.4(CLDN16):c.383-186A>G	not provided [RCV001717934]	benign	3	190408128	190408128	Human		name
11622638	CV336766	single nucleotide variant	NM_001146079.2(CLDN14):c.-390G>A	Autosomal recessive nonsyndromic hearing loss 29 [RCV000362592]	uncertain significance	21	36479803	36479803	Human	1	name
11655674	CV346428	single nucleotide variant	NM_001146079.2(CLDN14):c.-634G>A	Autosomal recessive nonsyndromic hearing loss 29 [RCV000327626]	uncertain significance	21	36480047	36480047	Human	1	name
11651169	CV350647	single nucleotide variant	NM_001146079.2(CLDN14):c.-136G>A	Autosomal recessive nonsyndromic hearing loss 29 [RCV000297209]	uncertain significance	21	36479549	36479549	Human	1	name
11626621	CV350648	single nucleotide variant	NM_001146079.2(CLDN14):c.-297G>A	Autosomal recessive nonsyndromic hearing loss 29 [RCV000266849]	uncertain significance	21	36479710	36479710	Human	1	name
11646807	CV350649	single nucleotide variant	NM_001146079.2(CLDN14):c.-492C>T	Autosomal recessive nonsyndromic hearing loss 29 [RCV000272665]	uncertain significance	21	36479905	36479905	Human	1	name
11631230	CV351699	single nucleotide variant	NM_001146079.2(CLDN14):c.*107G>A	Autosomal recessive nonsyndromic hearing loss 29 [RCV000370840]\|not provided [RCV004694635]	uncertain significance	21	36460869	36460869	Human	1	name
11659337	CV351704	single nucleotide variant	NM_001146079.2(CLDN14):c.-187C>T	Autosomal recessive nonsyndromic hearing loss 29 [RCV000356835]	uncertain significance	21	36479600	36479600	Human	1	name
11626372	CV351705	single nucleotide variant	NM_001146079.2(CLDN14):c.-242C>T	Autosomal recessive nonsyndromic hearing loss 29 [RCV000262046]	uncertain significance	21	36479655	36479655	Human	1	name
11628511	CV351708	single nucleotide variant	NM_001146079.2(CLDN14):c.-264G>C	Autosomal recessive nonsyndromic hearing loss 29 [RCV000303236]\|not provided [RCV004717465]	benign\|likely benign	21	36479677	36479677	Human	1	name
11630760	CV351709	single nucleotide variant	NM_001146079.2(CLDN14):c.-290A>G	Autosomal recessive nonsyndromic hearing loss 29 [RCV000358068]\|not provided [RCV004718541]	benign\|likely benign	21	36479703	36479703	Human	1	name
11629565	CV351712	single nucleotide variant	NM_001146079.2(CLDN14):c.-337C>G	Autosomal recessive nonsyndromic hearing loss 29 [RCV000326596]	uncertain significance	21	36479750	36479750	Human	1	name
11662537	CV351713	single nucleotide variant	NM_001146079.2(CLDN14):c.-645G>T	Autosomal recessive nonsyndromic hearing loss 29 [RCV000386836]	uncertain significance	21	36480058	36480058	Human	1	name
28888299	CV886751	single nucleotide variant	NM_001146079.2(CLDN14):c.*222T>C	Autosomal recessive nonsyndromic hearing loss 29 [RCV001138347]	uncertain significance	21	36460754	36460754	Human	1	name
28882429	CV886762	single nucleotide variant	NM_001146079.2(CLDN14):c.-130G>A	Autosomal recessive nonsyndromic hearing loss 29 [RCV001136625]	uncertain significance	21	36479543	36479543	Human	1	name
28897107	CV886763	single nucleotide variant	NM_001146079.2(CLDN14):c.-426C>T	Autosomal recessive nonsyndromic hearing loss 29 [RCV001141464]	uncertain significance	21	36479839	36479839	Human	1	name
28897109	CV886764	single nucleotide variant	NM_001146079.2(CLDN14):c.-436G>A	Autosomal recessive nonsyndromic hearing loss 29 [RCV001141465]	uncertain significance	21	36479849	36479849	Human	1	name
28897112	CV886765	single nucleotide variant	NM_001146079.2(CLDN14):c.-445G>A	Autosomal recessive nonsyndromic hearing loss 29 [RCV001141466]	uncertain significance	21	36479858	36479858	Human	1	name
28897114	CV886766	single nucleotide variant	NM_001146079.2(CLDN14):c.-531G>A	Autosomal recessive nonsyndromic hearing loss 29 [RCV001141467]	uncertain significance	21	36479944	36479944	Human	1	name
8578487	CV112870	single nucleotide variant	NM_006580.3(CLDN16):c.324+3013G>A	Lung cancer [RCV000093393]	uncertain significance	3	190391456	190391456	Human		name
150513167	CV1211839	single nucleotide variant	NM_182848.4(CLDN10):c.215-7578G>A	not provided [RCV001598360]	benign	13	95552554	95552554	Human		name
150515576	CV1227602	deletion	NM_182848.4(CLDN10):c.215-7613del	not provided [RCV001638876]	benign	13	95552517	95552517	Human		name
11663743	CV336765	single nucleotide variant	NM_001146079.2(CLDN14):c.-82+9G>C	Autosomal recessive nonsyndromic hearing loss 29 [RCV000398970]	uncertain significance	21	36479486	36479486	Human	1	name
408390264	CV3525007	single nucleotide variant	NM_001146079.2(CLDN14):c.-81-4T>C	not provided [RCV004769902]	uncertain significance	21	36461780	36461780	Human		name
13831985	CV582482	deletion	NM_006580.4(CLDN16):c.-143_-141del	not provided [RCV000722670]	uncertain significance	3	190388186	190388188	Human		name
150436860	CV1220620	single nucleotide variant	NM_001378492.1(CLDN16):c.-93-707G>A	not provided [RCV001609604]	benign	3	190387530	190387530	Human		name
150463797	CV1263858	single nucleotide variant	NM_001146079.2(CLDN14):c.-81-184A>G	not provided [RCV001682559]	benign	21	36461960	36461960	Human	14	name
150462703	CV1273048	single nucleotide variant	NM_001378492.1(CLDN16):c.-93-626A>G	not provided [RCV001693805]	benign	3	190387611	190387611	Human		name
150451267	CV1276572	single nucleotide variant	NM_001378492.1(CLDN16):c.-93-575C>T	not provided [RCV001708361]	benign	3	190387662	190387662	Human		name
156020804	CV2058932	microsatellite	NM_006580.4(CLDN16):c.114+7_114+9del	not provided [RCV002820604]	likely benign	3	190388446	190388448	Human		name
11630523	CV350646	single nucleotide variant	NM_001146079.2(CLDN14):c.-82+2024G>A	Autosomal recessive nonsyndromic hearing loss 29 [RCV000350984]\|not provided [RCV004703843]	likely benign	21	36477471	36477471	Human	1	name
28882426	CV886761	single nucleotide variant	NM_001146079.2(CLDN14):c.-82+2044A>C	Autosomal recessive nonsyndromic hearing loss 29 [RCV001136624]	uncertain significance	21	36477451	36477451	Human	1	name
8583402	CV117963	single nucleotide variant	NM_001160100.1(CLDN10):c.157+55141T>C	Lung cancer [RCV000098484]	uncertain significance	13	95489131	95489131	Human		name
13832571	CV583067	indel	NM_148960.3(CLDN19):c.626+15_626+17delinsTGT	not provided [RCV000723264]	uncertain significance	1	42735861	42735863	Human		name
126917707	CV1040093	single nucleotide variant	NM_148960.3(CLDN19):c.229A>G (p.Ile77Val)	CLDN19-related disorder [RCV003898343]\|Inborn genetic diseases [RCV002547770]\|Renal hypomagnesemia 5 with ocular involvement [RCV002488098]\|not provided [RCV001361322]	likely benign\|uncertain significance	1	42738580	42738580	Human	2	name , trait , alternate_id
151869138	CV1415790	single nucleotide variant	NM_148960.3(CLDN19):c.206C>T (p.Ser69Leu)	CLDN19-related disorder [RCV003426238]\|Renal hypomagnesemia 5 with ocular involvement [RCV002482742]\|not provided [RCV001884915]	uncertain significance	1	42739858	42739858	Human	1	name , trait , alternate_id
8556145	CV16400	single nucleotide variant	NM_148960.3(CLDN19):c.59G>A (p.Gly20Asp)	CLDN19-related disorder [RCV003924792]\|Renal hypomagnesemia 5 with ocular involvement [RCV000001426]\|not provided [RCV000823362]	pathogenic\|likely pathogenic	1	42740005	42740005	Human	1	name , trait , alternate_id
10042023	CV187219	single nucleotide variant	NM_001146079.2(CLDN14):c.242G>A (p.Arg81His)	Autosomal recessive nonsyndromic hearing loss 29 [RCV000169747]\|CLDN14-related disorder [RCV003422062]\|Hearing impairment [RCV001375151]\|not provided [RCV002272154]	pathogenic\|likely pathogenic\|not provided	21	36461454	36461454	Human	3	name , trait , alternate_id
10042024	CV187220	single nucleotide variant	NM_001146079.2(CLDN14):c.167G>A (p.Trp56Ter)	Autosomal recessive nonsyndromic hearing loss 29 [RCV000169748]\|CLDN14-related disorder [RCV003390886]	pathogenic\|not provided	21	36461529	36461529	Human	1	name , trait , alternate_id
156049106	CV1927247	single nucleotide variant	NM_148960.3(CLDN19):c.105C>T (p.Tyr35=)	CLDN19-related disorder [RCV003953952]\|not provided [RCV002637872]	likely benign	1	42739959	42739959	Human	1	name , trait , alternate_id
156335809	CV2109281	single nucleotide variant	NM_148960.3(CLDN19):c.315G>A (p.Thr105=)	CLDN19-related disorder [RCV003943598]\|not provided [RCV002938628]	likely benign	1	42738494	42738494	Human	1	name , trait , alternate_id
11095624	CV231120	single nucleotide variant	NM_001146079.2(CLDN14):c.363C>T (p.Gly121=)	CLDN14-related disorder [RCV003937821]\|not specified [RCV000222559]	likely benign	21	36461333	36461333	Human	1	name , trait , alternate_id
11639218	CV271842	single nucleotide variant	NM_001146079.2(CLDN14):c.406G>A (p.Val136Ile)	CLDN14-related disorder [RCV003967770]\|not provided [RCV000317022]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	21	36461290	36461290	Human	1	name , trait , alternate_id
11579388	CV282544	single nucleotide variant	NM_148960.3(CLDN19):c.65T>C (p.Ile22Thr)	CLDN19-related disorder [RCV004755856]\|Renal hypomagnesemia 5 with ocular involvement [RCV000302592]\|not provided [RCV001052078]	uncertain significance	1	42739999	42739999	Human	1	name , trait , alternate_id
11589396	CV294148	single nucleotide variant	NM_006580.4(CLDN16):c.17A>C (p.Gln6Pro)	CLDN16-related disorder [RCV004758687]\|Primary hypomagnesemia [RCV000310282]	uncertain significance	3	190388346	190388346	Human	2	name , trait , alternate_id
405290899	CV3208657	single nucleotide variant	NM_006984.5(CLDN10):c.228A>C (p.Ile76=)	CLDN10-related disorder [RCV003927293]	benign	13	95560139	95560139	Human		name , trait , alternate_id
405288850	CV3209999	single nucleotide variant	NM_148960.3(CLDN19):c.525C>T (p.Ala175=)	CLDN19-related disorder [RCV003961478]	likely benign	1	42735979	42735979	Human		name , trait , alternate_id
405295189	CV3211093	single nucleotide variant	NM_006984.5(CLDN10):c.402A>C (p.Gly134=)	CLDN10-related disorder [RCV003937089]	benign	13	95560401	95560401	Human		name , trait , alternate_id
405267370	CV3219315	single nucleotide variant	NM_006580.4(CLDN16):c.24C>T (p.Ile8=)	CLDN16-related disorder [RCV003969573]	likely benign	3	190388353	190388353	Human		name , trait , alternate_id
8606906	CV53253	single nucleotide variant	NM_001146079.2(CLDN14):c.621C>T (p.Thr207=)	Autosomal recessive nonsyndromic hearing loss 29 [RCV001138769]\|CLDN14-related disorder [RCV003904910]\|not provided [RCV000966676]\|not specified [RCV000037061]	benign\|uncertain significance	21	36461075	36461075	Human	1	name , trait , alternate_id
15184859	CV720351	single nucleotide variant	NM_006580.4(CLDN16):c.626C>A (p.Ala209Asp)	CLDN16-related disorder [RCV003920663]\|Primary hypomagnesemia [RCV001144100]\|not provided [RCV000886541]	benign\|likely benign\|uncertain significance	3	190409954	190409954	Human	2	name , trait , alternate_id
405255273	CV3171953	single nucleotide variant	NM_006580.4(CLDN16):c.15T>C (p.Leu5=)	not provided [RCV003872076]	likely benign	3	190388344	190388344	Human		name
597858542	CV3748277	single nucleotide variant	NM_148960.3(CLDN19):c.15C>A (p.Gly5=)	not provided [RCV005067099]	likely benign	1	42740049	42740049	Human		name
126741010	CV1016217	single nucleotide variant	NM_006580.4(CLDN16):c.2T>C (p.Met1Thr)	Primary hypomagnesemia [RCV001329583]	pathogenic\|conflicting interpretations of pathogenicity	3	190388331	190388331	Human	1	name
151852412	CV1357163	single nucleotide variant	NM_006580.4(CLDN16):c.4A>T (p.Arg2Trp)	not provided [RCV001904272]	uncertain significance	3	190388333	190388333	Human		name
156362986	CV1934761	single nucleotide variant	NM_006580.4(CLDN16):c.1A>G (p.Met1Val)	not provided [RCV002651767]	uncertain significance	3	190388330	190388330	Human		name
156065533	CV2018330	single nucleotide variant	NM_148960.3(CLDN19):c.33C>T (p.Tyr11=)	not provided [RCV002705519]	likely benign	1	42740031	42740031	Human		name
8559010	CV20968	single nucleotide variant	NM_006580.4(CLDN16):c.2T>G (p.Met1Arg)	Primary hypomagnesemia [RCV000006292]	pathogenic	3	190388331	190388331	Human	1	name
407462354	CV3419350	single nucleotide variant	NM_014343.3(CLDN15):c.5C>T (p.Ser2Leu)	not specified [RCV004612885]	uncertain significance	7	101237577	101237577	Human		name
597716391	CV3717418	single nucleotide variant	NM_006580.4(CLDN16):c.3G>A (p.Met1Ile)	Primary hypomagnesemia [RCV005035294]	likely pathogenic	3	190388332	190388332	Human	1	name
13435677	CV432259	single nucleotide variant	NM_006984.5(CLDN10):c.2T>C (p.Met1Thr)	HELIX syndrome [RCV000505532]	pathogenic	13	95552755	95552755	Human	1	name
28883399	CV888532	single nucleotide variant	NM_006580.4(CLDN16):c.99T>C (p.Ala33=)	Primary hypomagnesemia [RCV001150245]	uncertain significance	3	190388428	190388428	Human	1	name
152168312	CV1524936	single nucleotide variant	NM_148960.3(CLDN19):c.150C>G (p.Leu50=)	not provided [RCV002182398]	likely benign	1	42739914	42739914	Human		name
152052927	CV1665113	single nucleotide variant	NM_148960.3(CLDN19):c.129C>T (p.Ala43=)	Renal hypomagnesemia 5 with ocular involvement [RCV002498089]\|not provided [RCV002089383]	likely benign	1	42739935	42739935	Human	1	name
156405621	CV1884512	single nucleotide variant	NM_006580.4(CLDN16):c.150C>T (p.Cys50=)	not provided [RCV003070080]	likely benign	3	190402372	190402372	Human		name
156436746	CV1940320	single nucleotide variant	NM_148960.3(CLDN19):c.162C>T (p.Cys54=)	not provided [RCV003106270]	likely benign	1	42739902	42739902	Human		name
156048157	CV1978141	single nucleotide variant	NM_006580.4(CLDN16):c.207G>A (p.Ala69=)	Primary hypomagnesemia [RCV005025886]\|not provided [RCV002590570]	likely benign\|uncertain significance	3	190402429	190402429	Human	1	name
156396069	CV1985155	single nucleotide variant	NM_006580.4(CLDN16):c.210G>A (p.Glu70=)	not provided [RCV002635492]	likely benign	3	190402432	190402432	Human		name
156104783	CV2096365	single nucleotide variant	NM_148960.3(CLDN19):c.114C>T (p.Asp38=)	not provided [RCV002913541]	likely benign	1	42739950	42739950	Human		name
155979684	CV2140300	single nucleotide variant	NM_006580.4(CLDN16):c.19T>C (p.Tyr7His)	Inborn genetic diseases [RCV002996034]\|Primary hypomagnesemia [RCV005028109]\|not provided [RCV003011406]	uncertain significance	3	190388348	190388348	Human	2	name
156020918	CV2141272	single nucleotide variant	NM_148960.3(CLDN19):c.207G>A (p.Ser69=)	not provided [RCV002976149]	likely benign	1	42739857	42739857	Human		name
156115623	CV2221511	single nucleotide variant	NM_012131.3(CLDN17):c.14C>A (p.Pro5His)	not specified [RCV004096782]	uncertain significance	21	30166604	30166604	Human		name
11659196	CV281011	single nucleotide variant	NM_148960.3(CLDN19):c.168C>G (p.Ser56=)	Renal hypomagnesemia 5 with ocular involvement [RCV000355874]	uncertain significance	1	42739896	42739896	Human	1	name
401922980	CV2825056	single nucleotide variant	NM_005602.6(CLDN11):c.153G>T (p.Gly51=)	not provided [RCV003434792]	likely benign	3	170419219	170419219	Human		name
11595356	CV294155	single nucleotide variant	NM_006580.4(CLDN16):c.117G>A (p.Val39=)	Primary hypomagnesemia [RCV000369762]\|not provided [RCV000921476]	likely benign\|uncertain significance	3	190402339	190402339	Human	1	name
404990443	CV2998801	single nucleotide variant	NM_148960.3(CLDN19):c.180G>A (p.Gly60=)	not provided [RCV003692211]	likely benign	1	42739884	42739884	Human		name
405211572	CV3117833	single nucleotide variant	NM_006580.4(CLDN16):c.240G>A (p.Ala80=)	not provided [RCV003823432]	likely benign	3	190404784	190404784	Human		name
405214078	CV3143080	single nucleotide variant	NM_148960.3(CLDN19):c.189G>A (p.Gln63=)	not provided [RCV003846243]	likely benign	1	42739875	42739875	Human		name
405205103	CV3144192	single nucleotide variant	NM_006580.4(CLDN16):c.189G>A (p.Glu63=)	not provided [RCV003844982]	likely benign	3	190402411	190402411	Human		name
405685656	CV3306595	single nucleotide variant	NM_006580.4(CLDN16):c.25G>C (p.Ala9Pro)	Inborn genetic diseases [RCV004444313]	uncertain significance	3	190388354	190388354	Human	1	name
597940937	CV3819158	single nucleotide variant	NM_006580.4(CLDN16):c.132A>G (p.Arg44=)	not provided [RCV005158969]	likely benign	3	190402354	190402354	Human		name
597840496	CV3825329	single nucleotide variant	NM_006580.4(CLDN16):c.288G>C (p.Leu96=)	not provided [RCV005172012]	likely benign	3	190404832	190404832	Human		name
598242782	CV3944501	single nucleotide variant	NM_016369.4(CLDN18):c.13A>T (p.Thr5Ser)	not specified [RCV005321801]	uncertain significance	3	138010238	138010238	Human		name
15178942	CV720350	single nucleotide variant	NM_006580.4(CLDN16):c.165T>C (p.Phe55=)	Primary hypomagnesemia [RCV002495360]\|not provided [RCV000885177]	benign\|likely benign	3	190402387	190402387	Human	1	name
15099221	CV748151	single nucleotide variant	NM_006580.4(CLDN16):c.171G>A (p.Gly57=)	not provided [RCV000914417]	likely benign	3	190402393	190402393	Human		name
28883394	CV888531	single nucleotide variant	NM_006580.4(CLDN16):c.22A>G (p.Ile8Val)	Inborn genetic diseases [RCV004032782]\|Primary hypomagnesemia [RCV001150244]	likely benign\|uncertain significance	3	190388351	190388351	Human	2	name
28903565	CV888533	single nucleotide variant	NM_006580.4(CLDN16):c.192C>T (p.Tyr64=)	Primary hypomagnesemia [RCV001144095]\|not provided [RCV003727906]	likely benign\|uncertain significance	3	190402414	190402414	Human	1	name
126747282	CV1004642	single nucleotide variant	NM_006580.4(CLDN16):c.62T>C (p.Ile21Thr)	Primary hypomagnesemia [RCV005023050]\|not provided [RCV001326131]	uncertain significance	3	190388391	190388391	Human	1	name
127318070	CV1113854	single nucleotide variant	NM_006580.4(CLDN16):c.504C>G (p.Leu168=)	not provided [RCV001466069]	likely benign	3	190408435	190408435	Human		name
127325627	CV1134730	single nucleotide variant	NM_006580.4(CLDN16):c.639C>T (p.Ser213=)	not provided [RCV001506064]	likely benign	3	190409967	190409967	Human		name
151348878	CV1324261	single nucleotide variant	NM_148960.3(CLDN19):c.83C>T (p.Pro28Leu)	Renal hypomagnesemia 5 with ocular involvement [RCV001808177]	likely pathogenic	1	42739981	42739981	Human	1	name
151835107	CV1394411	single nucleotide variant	NM_148960.3(CLDN19):c.41C>A (p.Ala14Asp)	not provided [RCV002051120]	uncertain significance	1	42740023	42740023	Human		name
151889477	CV1435993	single nucleotide variant	NM_148960.3(CLDN19):c.74C>T (p.Thr25Ile)	not provided [RCV001963437]	uncertain significance	1	42739990	42739990	Human		name
152055686	CV1539025	single nucleotide variant	NM_006580.4(CLDN16):c.627C>T (p.Ala209=)	not provided [RCV002208051]	likely benign	3	190409955	190409955	Human		name
152034456	CV1639473	single nucleotide variant	NM_148960.3(CLDN19):c.414G>A (p.Ser138=)	not provided [RCV002187262]	likely benign	1	42738288	42738288	Human		name
152102753	CV1667319	single nucleotide variant	NM_005602.6(CLDN11):c.336C>T (p.Pro112=)	not provided [RCV002214306]	likely benign	3	170423272	170423272	Human		name
156407303	CV1918069	single nucleotide variant	NM_006580.4(CLDN16):c.687T>C (p.Tyr229=)	not provided [RCV002606855]	likely benign	3	190410015	190410015	Human		name
156406110	CV1921460	single nucleotide variant	NM_148960.3(CLDN19):c.429G>T (p.Leu143=)	Renal hypomagnesemia 5 with ocular involvement [RCV005021610]\|not provided [RCV002606492]	likely benign\|uncertain significance	1	42738273	42738273	Human	1	name
156303949	CV1933671	single nucleotide variant	NM_148960.3(CLDN19):c.534C>T (p.Gly178=)	not provided [RCV002629393]	likely benign	1	42735970	42735970	Human		name
156440784	CV1940505	single nucleotide variant	NM_001146079.2(CLDN14):c.12G>A (p.Thr4=)	not provided [RCV003110824]	likely benign	21	36461684	36461684	Human		name
156309700	CV2031457	single nucleotide variant	NM_148960.3(CLDN19):c.663C>T (p.Pro221=)	not provided [RCV002716460]	likely benign	1	42735098	42735098	Human		name
155966033	CV2034265	single nucleotide variant	NM_006580.4(CLDN16):c.516G>T (p.Gly172=)	not provided [RCV002731399]	likely benign	3	190408447	190408447	Human		name
155950059	CV2109717	single nucleotide variant	NM_148960.3(CLDN19):c.555A>T (p.Thr185=)	not provided [RCV002905014]	likely benign	1	42735949	42735949	Human		name
156219300	CV2128154	single nucleotide variant	NM_006580.4(CLDN16):c.519T>A (p.Ser173=)	not provided [RCV002958076]	likely benign	3	190408450	190408450	Human		name
156139034	CV2166037	single nucleotide variant	NM_006580.4(CLDN16):c.73T>G (p.Trp25Gly)	not provided [RCV003022455]	uncertain significance	3	190388402	190388402	Human		name
156298617	CV2180587	single nucleotide variant	NM_148960.3(CLDN19):c.348C>T (p.Gly116=)	not provided [RCV003027983]	likely benign	1	42738461	42738461	Human		name
156186675	CV2324746	single nucleotide variant	NM_148960.3(CLDN19):c.82C>A (p.Pro28Thr)	Inborn genetic diseases [RCV002930738]	uncertain significance	1	42739982	42739982	Human	1	name
156060159	CV2391847	single nucleotide variant	NM_006984.5(CLDN10):c.62T>C (p.Val21Ala)	Inborn genetic diseases [RCV002759868]	uncertain significance	13	95552815	95552815	Human	1	name
329362629	CV2464061	single nucleotide variant	NM_006580.4(CLDN16):c.37G>A (p.Ala13Thr)	Inborn genetic diseases [RCV003206121]	uncertain significance	3	190388366	190388366	Human	1	name
401768879	CV2686412	single nucleotide variant	NM_012131.3(CLDN17):c.71C>A (p.Thr24Lys)	not specified [RCV004297482]	uncertain significance	21	30166547	30166547	Human		name
401854982	CV2752703	single nucleotide variant	NM_006580.4(CLDN16):c.47C>T (p.Ser16Phe)	Primary hypomagnesemia [RCV003337757]	uncertain significance	3	190388376	190388376	Human	1	name
401895689	CV2771458	single nucleotide variant	NM_012131.3(CLDN17):c.95T>A (p.Val32Glu)	not specified [RCV004348506]	uncertain significance	21	30166523	30166523	Human		name
11663140	CV281015	single nucleotide variant	NM_148960.3(CLDN19):c.71G>C (p.Ser24Thr)	Renal Hypomagnesemia, Recessive [RCV000392737]	uncertain significance	1	42739993	42739993	Human	3	name
11581239	CV282307	single nucleotide variant	NM_148960.3(CLDN19):c.39G>T (p.Leu13Phe)	Renal hypomagnesemia 5 with ocular involvement [RCV000361997]\|not provided [RCV000969136]	benign\|likely benign	1	42740025	42740025	Human	1	name
401927581	CV2825058	single nucleotide variant	NM_005602.6(CLDN11):c.615C>G (p.Ala205=)	not provided [RCV003439051]	likely benign	3	170432747	170432747	Human		name
11580537	CV282543	single nucleotide variant	NM_148960.3(CLDN19):c.561G>A (p.Pro187=)	Renal hypomagnesemia 5 with ocular involvement [RCV000336220]\|not provided [RCV001522250]\|not specified [RCV001702415]	benign\|likely benign	1	42735943	42735943	Human	1	name
405228666	CV2894635	single nucleotide variant	NM_006580.4(CLDN16):c.53G>A (p.Gly18Glu)	not provided [RCV003555120]	uncertain significance	3	190388382	190388382	Human		name
11593189	CV289721	single nucleotide variant	NM_006580.4(CLDN16):c.45C>G (p.Phe15Leu)	Primary hypomagnesemia [RCV000346413]\|not provided [RCV000974602]	benign\|likely benign	3	190388374	190388374	Human	1	name
405222943	CV2918925	single nucleotide variant	NM_006580.4(CLDN16):c.699A>C (p.Thr233=)	not provided [RCV003568711]	likely benign	3	190410027	190410027	Human		name
405209766	CV3062136	single nucleotide variant	NM_148960.3(CLDN19):c.651C>T (p.Ser217=)	not provided [RCV003731829]	likely benign	1	42735110	42735110	Human		name
405212414	CV3063106	single nucleotide variant	NM_006580.4(CLDN16):c.324T>C (p.Asp108=)	not provided [RCV003732128]	likely benign	3	190404868	190404868	Human		name
405087869	CV3167489	single nucleotide variant	NM_006580.4(CLDN16):c.675G>A (p.Thr225=)	not provided [RCV003852072]	likely benign	3	190410003	190410003	Human		name
405717924	CV3227669	single nucleotide variant	NM_006580.4(CLDN16):c.77C>T (p.Thr26Ile)	Primary hypomagnesemia [RCV003992010]	uncertain significance	3	190388406	190388406	Human	1	name
405685580	CV3306582	single nucleotide variant	NM_006984.5(CLDN10):c.35T>C (p.Met12Thr)	Inborn genetic diseases [RCV004444299]	uncertain significance	13	95552788	95552788	Human	1	name
405685694	CV3306602	single nucleotide variant	NM_012131.3(CLDN17):c.53T>G (p.Met18Arg)	not specified [RCV004444320]	uncertain significance	21	30166565	30166565	Human		name
405852927	CV3393355	single nucleotide variant	NM_005602.6(CLDN11):c.606G>A (p.Ala202=)	not provided [RCV004546085]	benign	3	170432738	170432738	Human		name
407462359	CV3419352	single nucleotide variant	NM_006580.4(CLDN16):c.88A>G (p.Met30Val)	Inborn genetic diseases [RCV004612887]	uncertain significance	3	190388417	190388417	Human	1	name
407462375	CV3419358	single nucleotide variant	NM_148960.3(CLDN19):c.492C>A (p.Ala164=)	Inborn genetic diseases [RCV004612893]	likely benign	1	42736012	42736012	Human	1	name
407462377	CV3419359	single nucleotide variant	NM_148960.3(CLDN19):c.92A>G (p.Lys31Arg)	Inborn genetic diseases [RCV004612894]	uncertain significance	1	42739972	42739972	Human	1	name
408384575	CV3518401	deletion	NM_006580.4(CLDN16):c.165del (p.Phe55fs)	Primary hypomagnesemia [RCV004759725]	pathogenic	3	190402384	190402384	Human	1	name
597647199	CV3660269	single nucleotide variant	NM_148960.3(CLDN19):c.62T>C (p.Ile21Thr)	Inborn genetic diseases [RCV004973958]	uncertain significance	1	42740002	42740002	Human	1	name
597647210	CV3660271	single nucleotide variant	NM_148960.3(CLDN19):c.528G>T (p.Val176=)	Inborn genetic diseases [RCV004973960]	likely benign	1	42735976	42735976	Human	1	name
597751865	CV3709600	single nucleotide variant	NM_148960.3(CLDN19):c.31T>C (p.Tyr11His)	Renal hypomagnesemia 5 with ocular involvement [RCV005015839]	uncertain significance	1	42740033	42740033	Human	1	name
597716401	CV3717421	single nucleotide variant	NM_006580.4(CLDN16):c.60G>T (p.Leu20Phe)	Primary hypomagnesemia [RCV005035295]	uncertain significance	3	190388389	190388389	Human	1	name
597637939	CV3717422	single nucleotide variant	NM_006580.4(CLDN16):c.88A>T (p.Met30Leu)	Primary hypomagnesemia [RCV005024566]	uncertain significance	3	190388417	190388417	Human	1	name
597920173	CV3738045	single nucleotide variant	NM_148960.3(CLDN19):c.420T>C (p.Tyr140=)	not provided [RCV005074644]	likely benign	1	42738282	42738282	Human		name
597867596	CV3739078	single nucleotide variant	NM_148960.3(CLDN19):c.486C>G (p.Gly162=)	not provided [RCV005068145]	likely benign	1	42736018	42736018	Human		name
597949882	CV3746041	single nucleotide variant	NM_006580.4(CLDN16):c.699A>T (p.Thr233=)	not provided [RCV005079225]	likely benign	3	190410027	190410027	Human		name
597945702	CV3789948	single nucleotide variant	NM_148960.3(CLDN19):c.672G>A (p.Val224=)	not provided [RCV005134649]	likely benign	1	42735089	42735089	Human		name
597876461	CV3813228	single nucleotide variant	NM_006580.4(CLDN16):c.37G>C (p.Ala13Pro)	not provided [RCV005149164]	uncertain significance	3	190388366	190388366	Human		name
598264565	CV3944497	single nucleotide variant	NM_012131.3(CLDN17):c.34G>C (p.Val12Leu)	not specified [RCV005326158]	uncertain significance	21	30166584	30166584	Human		name
12900938	CV406166	single nucleotide variant	NM_006580.4(CLDN16):c.87G>C (p.Trp29Cys)	Primary hypomagnesemia [RCV005355958]\|not provided [RCV000483531]	uncertain significance	3	190388416	190388416	Human	1	name
15191474	CV733962	single nucleotide variant	NM_006580.4(CLDN16):c.532T>C (p.Leu178=)	Primary hypomagnesemia [RCV002505331]\|not provided [RCV000910258]	benign\|likely benign	3	190408463	190408463	Human	1	name
15190707	CV733963	single nucleotide variant	NM_006580.4(CLDN16):c.672G>A (p.Glu224=)	not provided [RCV000910030]	likely benign	3	190410000	190410000	Human		name
8621477	CV75451	single nucleotide variant	NM_001146079.2(CLDN14):c.15C>T (p.Ala5=)	not provided [RCV000054673]	likely benign\|uncertain significance	21	36461681	36461681	Human		name
8621478	CV75452	single nucleotide variant	NM_001146079.2(CLDN14):c.18G>A (p.Val6=)	Autosomal recessive nonsyndromic hearing loss 29 [RCV001143200]\|not provided [RCV000054674]	likely benign\|uncertain significance	21	36461678	36461678	Human	1	name
8621481	CV75455	single nucleotide variant	NM_006984.5(CLDN10):c.318C>T (p.Val106=)	not provided [RCV000054677]	uncertain significance	13	95560229	95560229	Human		name
15115340	CV780687	single nucleotide variant	NM_148960.3(CLDN19):c.645C>T (p.Pro215=)	not provided [RCV000978383]	likely benign	1	42735116	42735116	Human		name
26919782	CV827817	single nucleotide variant	NM_006580.4(CLDN16):c.477A>G (p.Gln159=)	Inborn genetic diseases [RCV004973283]\|Primary hypomagnesemia [RCV005036329]\|not provided [RCV001046384]	likely benign\|uncertain significance	3	190408408	190408408	Human	2	name
28889198	CV864409	single nucleotide variant	NM_148960.3(CLDN19):c.498C>T (p.Phe166=)	Renal hypomagnesemia 5 with ocular involvement [RCV001099343]\|not provided [RCV002069669]	likely benign\|uncertain significance	1	42736006	42736006	Human	1	name
28903572	CV888535	single nucleotide variant	NM_006580.4(CLDN16):c.564T>C (p.Tyr188=)	Primary hypomagnesemia [RCV001144097]	uncertain significance	3	190408495	190408495	Human	1	name
38459296	CV918532	single nucleotide variant	NM_006580.4(CLDN16):c.67G>A (p.Ala23Thr)	Renal hypomagnesemia 5 with ocular involvement [RCV001195722]	likely pathogenic	3	190388396	190388396	Human	1	name
126741012	CV1016218	single nucleotide variant	NM_006580.4(CLDN16):c.130C>T (p.Arg44Ter)	Primary hypomagnesemia [RCV005360371]	pathogenic\|likely pathogenic	3	190402352	190402352	Human	1	name
126766918	CV1023248	single nucleotide variant	NM_148960.3(CLDN19):c.257T>C (p.Val86Ala)	not provided [RCV001342613]	uncertain significance	1	42738552	42738552	Human		name
150404902	CV1189411	single nucleotide variant	NM_006580.4(CLDN16):c.236G>A (p.Arg79Gln)	Primary hypomagnesemia [RCV001564039]	pathogenic	3	190404780	190404780	Human	1	name
150416334	CV1192638	single nucleotide variant	NM_006580.4(CLDN16):c.137T>C (p.Leu46Pro)	Primary hypomagnesemia [RCV001568363]	pathogenic\|likely pathogenic	3	190402359	190402359	Human	1	name
150416335	CV1192639	single nucleotide variant	NM_006580.4(CLDN16):c.103G>A (p.Asp35Asn)	Primary hypomagnesemia [RCV001568368]	pathogenic\|likely pathogenic	3	190388432	190388432	Human	1	name
150534566	CV1300650	single nucleotide variant	NM_006580.4(CLDN16):c.149G>A (p.Cys50Tyr)	not provided [RCV001758778]	uncertain significance	3	190402371	190402371	Human		name
150547245	CV1302980	single nucleotide variant	NM_006580.4(CLDN16):c.100G>A (p.Asp34Asn)	not provided [RCV001763725]	uncertain significance	3	190388429	190388429	Human		name
151349202	CV1324380	deletion	NM_148960.3(CLDN19):c.427del (p.Leu143fs)	Renal hypomagnesemia 5 with ocular involvement [RCV001808297]\|not provided [RCV002542434]	pathogenic	1	42738275	42738275	Human	1	name
151663326	CV1331070	single nucleotide variant	NM_006580.4(CLDN16):c.148T>G (p.Cys50Gly)	Primary hypomagnesemia [RCV001825243]	not provided	3	190402370	190402370	Human		name
151854667	CV1453689	single nucleotide variant	NM_148960.3(CLDN19):c.283A>G (p.Met95Val)	not provided [RCV001883182]	uncertain significance	1	42738526	42738526	Human		name
8556146	CV16401	single nucleotide variant	NM_148960.3(CLDN19):c.169C>G (p.Gln57Glu)	Renal hypomagnesemia 5 with ocular involvement [RCV000001427]	pathogenic	1	42739895	42739895	Human	1	name
8556147	CV16402	single nucleotide variant	NM_148960.3(CLDN19):c.269T>C (p.Leu90Pro)	Renal hypomagnesemia 5 with ocular involvement [RCV000001428]	pathogenic	1	42738540	42738540	Human	1	name
156310662	CV1928387	single nucleotide variant	NM_148960.3(CLDN19):c.223G>A (p.Gly75Ser)	not provided [RCV002648143]	pathogenic	1	42739841	42739841	Human		name
156349774	CV1965319	single nucleotide variant	NM_001146079.2(CLDN14):c.91C>A (p.Arg31=)	not provided [RCV002580976]	likely benign	21	36461605	36461605	Human		name
155913590	CV1990287	single nucleotide variant	NM_148960.3(CLDN19):c.163G>A (p.Ala55Thr)	Inborn genetic diseases [RCV005321190]\|Renal hypomagnesemia 5 with ocular involvement [RCV005019286]\|not provided [RCV002614163]	uncertain significance	1	42739901	42739901	Human	2	name
8559006	CV20964	single nucleotide variant	NM_006580.4(CLDN16):c.235C>T (p.Arg79Ter)	Primary hypomagnesemia [RCV000006288]\|not provided [RCV002512826]	pathogenic	3	190404779	190404779	Human	1	name
8559011	CV20969	single nucleotide variant	NM_006580.4(CLDN16):c.290T>C (p.Leu97Pro)	Primary hypomagnesemia [RCV000006293]	pathogenic	3	190404834	190404834	Human	1	name
8559015	CV20973	single nucleotide variant	NM_006580.4(CLDN16):c.243G>T (p.Leu81Phe)	Primary hypomagnesemia [RCV000006297]\|not provided [RCV001093267]	pathogenic\|conflicting interpretations of pathogenicity	3	190404787	190404787	Human	1	name
8559016	CV20974	single nucleotide variant	NM_006580.4(CLDN16):c.242T>G (p.Leu81Trp)	Primary hypomagnesemia [RCV000006298]	pathogenic	3	190404786	190404786	Human	1	name
8559017	CV20975	single nucleotide variant	NM_006580.4(CLDN16):c.224T>C (p.Leu75Pro)	Primary hypomagnesemia [RCV000006299]\|not provided [RCV001851694]	pathogenic	3	190404768	190404768	Human	1	name
8559018	CV20976	single nucleotide variant	NM_006580.4(CLDN16):c.140G>A (p.Trp47Ter)	Primary hypomagnesemia [RCV000006300]	pathogenic	3	190402362	190402362	Human	1	name
155923687	CV2148648	single nucleotide variant	NM_006580.4(CLDN16):c.232A>G (p.Thr78Ala)	not provided [RCV003013309]	uncertain significance	3	190404776	190404776	Human		name
156130042	CV2182063	single nucleotide variant	NM_006580.4(CLDN16):c.289C>G (p.Leu97Val)	not provided [RCV003055804]	uncertain significance	3	190404833	190404833	Human		name
156272818	CV2195344	single nucleotide variant	NM_006984.5(CLDN10):c.271T>C (p.Phe91Leu)	Inborn genetic diseases [RCV002669653]	uncertain significance	13	95560182	95560182	Human	1	name
156190017	CV2206000	single nucleotide variant	NM_012131.3(CLDN17):c.122T>A (p.Ile41Asn)	not specified [RCV004078418]	uncertain significance	21	30166496	30166496	Human		name
155926889	CV2208313	single nucleotide variant	NM_014343.3(CLDN15):c.271C>T (p.Leu91Phe)	not specified [RCV004088750]	uncertain significance	7	101234389	101234389	Human		name
155962264	CV2254374	single nucleotide variant	NM_012131.3(CLDN17):c.186G>T (p.Leu62Phe)	not specified [RCV004123766]	uncertain significance	21	30166432	30166432	Human		name
156264929	CV2275356	single nucleotide variant	NM_014343.3(CLDN15):c.179A>G (p.Tyr60Cys)	not specified [RCV004135242]	uncertain significance	7	101237403	101237403	Human		name
156003963	CV2290086	single nucleotide variant	NM_012131.3(CLDN17):c.235A>G (p.Thr79Ala)	not specified [RCV004152765]	likely benign	21	30166383	30166383	Human		name
156079613	CV2292615	single nucleotide variant	NM_012131.3(CLDN17):c.218T>G (p.Leu73Arg)	not specified [RCV004154306]	uncertain significance	21	30166400	30166400	Human		name
156176947	CV2296958	single nucleotide variant	NM_148960.3(CLDN19):c.224G>C (p.Gly75Ala)	Inborn genetic diseases [RCV002891734]	uncertain significance	1	42738585	42738585	Human	1	name
156298695	CV2310650	single nucleotide variant	NM_006984.5(CLDN10):c.242G>A (p.Gly81Glu)	Inborn genetic diseases [RCV002897749]	uncertain significance	13	95560153	95560153	Human	1	name
156157639	CV2322587	single nucleotide variant	NM_014343.3(CLDN15):c.259C>A (p.Leu87Ile)	not specified [RCV004182737]	uncertain significance	7	101234401	101234401	Human		name
156190254	CV2356720	single nucleotide variant	NM_182848.4(CLDN10):c.101C>T (p.Ala34Val)	Inborn genetic diseases [RCV002984568]	uncertain significance	13	95433934	95433934	Human	1	name
156148193	CV2358068	single nucleotide variant	NM_012131.3(CLDN17):c.125T>C (p.Val42Ala)	not specified [RCV004211880]	uncertain significance	21	30166493	30166493	Human		name
329373513	CV2447282	single nucleotide variant	NM_006984.5(CLDN10):c.256G>T (p.Ala86Ser)	Inborn genetic diseases [RCV003185177]	uncertain significance	13	95560167	95560167	Human	1	name
329352008	CV2455608	single nucleotide variant	NM_016369.4(CLDN18):c.168G>C (p.Gln56His)	not specified [RCV004276856]	uncertain significance	3	138010393	138010393	Human		name
329846767	CV2523905	single nucleotide variant	NM_148960.3(CLDN19):c.181C>T (p.Gln61Ter)	Renal hypomagnesemia 5 with ocular involvement [RCV003226607]	pathogenic	1	42739883	42739883	Human	1	name
401720205	CV2675808	single nucleotide variant	NM_016369.4(CLDN18):c.275T>C (p.Ile92Thr)	not specified [RCV004281823]	uncertain significance	3	138023712	138023712	Human		name
401728654	CV2693707	single nucleotide variant	NM_012131.3(CLDN17):c.250A>G (p.Met84Val)	not specified [RCV004298036]	uncertain significance	21	30166368	30166368	Human		name
401757646	CV2707893	single nucleotide variant	NM_006984.5(CLDN10):c.198C>A (p.Phe66Leu)	Inborn genetic diseases [RCV003256117]	uncertain significance	13	95552951	95552951	Human	1	name
401750938	CV2712290	single nucleotide variant	NM_016369.4(CLDN18):c.242C>T (p.Ala81Val)	not specified [RCV004313786]	uncertain significance	3	138023679	138023679	Human		name
401796637	CV2739601	single nucleotide variant	NM_006984.5(CLDN10):c.138G>A (p.Trp46Ter)	HELIX syndrome [RCV003319566]	pathogenic	13	95552891	95552891	Human	1	name
401859862	CV2765171	single nucleotide variant	NM_148960.3(CLDN19):c.148C>A (p.Leu50Ile)	Inborn genetic diseases [RCV003342040]\|Renal hypomagnesemia 5 with ocular involvement [RCV005021918]	uncertain significance	1	42739916	42739916	Human	2	name
401963836	CV2844877	single nucleotide variant	NM_005602.6(CLDN11):c.232G>A (p.Val78Met)	Leukodystrophy, hypomyelinating, 22 [RCV003484454]	uncertain significance	3	170423168	170423168	Human	1	name
402471901	CV2912090	single nucleotide variant	NM_148960.3(CLDN19):c.201C>A (p.Tyr67Ter)	not provided [RCV003570673]	pathogenic	1	42739863	42739863	Human		name
405183814	CV3057856	single nucleotide variant	NM_001146079.2(CLDN14):c.84G>A (p.Pro28=)	not provided [RCV003729062]	likely benign	21	36461612	36461612	Human		name
405706829	CV3225212	single nucleotide variant	NM_005602.6(CLDN11):c.179C>G (p.Thr60Arg)	Leukodystrophy, hypomyelinating, 22 [RCV003990266]	uncertain significance	3	170419245	170419245	Human	1	name
405717838	CV3227658	single nucleotide variant	NM_148960.3(CLDN19):c.162C>A (p.Cys54Ter)	Renal hypomagnesemia 5 with ocular involvement [RCV003991999]	likely pathogenic	1	42739902	42739902	Human	1	name
405685574	CV3306581	single nucleotide variant	NM_006984.5(CLDN10):c.127G>T (p.Ala43Ser)	Inborn genetic diseases [RCV004444298]	uncertain significance	13	95552880	95552880	Human	1	name
405685630	CV3306590	single nucleotide variant	NM_014343.3(CLDN15):c.253G>A (p.Ala85Thr)	not specified [RCV004444308]	uncertain significance	7	101234407	101234407	Human		name
405685667	CV3306597	single nucleotide variant	NM_012131.3(CLDN17):c.203G>A (p.Ser68Asn)	not specified [RCV004444315]	uncertain significance	21	30166415	30166415	Human		name
405685678	CV3306599	single nucleotide variant	NM_012131.3(CLDN17):c.238G>C (p.Ala80Pro)	not specified [RCV004444317]	uncertain significance	21	30166380	30166380	Human		name
405685683	CV3306600	single nucleotide variant	NM_012131.3(CLDN17):c.263T>C (p.Val88Ala)	not specified [RCV004444318]	uncertain significance	21	30166355	30166355	Human		name
405853736	CV3395166	single nucleotide variant	NM_006984.5(CLDN10):c.142A>C (p.Asn48His)	HELIX syndrome [RCV004555308]	likely pathogenic	13	95552895	95552895	Human	1	name
407462356	CV3419351	single nucleotide variant	NM_014343.3(CLDN15):c.148T>G (p.Phe50Val)	not specified [RCV004612886]	uncertain significance	7	101237434	101237434	Human		name
407462361	CV3419353	single nucleotide variant	NM_006580.4(CLDN16):c.283A>T (p.Thr95Ser)	Inborn genetic diseases [RCV004612888]	uncertain significance	3	190404827	190404827	Human	1	name
408394010	CV3526326	single nucleotide variant	NM_006580.4(CLDN16):c.148T>C (p.Cys50Arg)	Primary hypomagnesemia [RCV004771758]	uncertain significance	3	190402370	190402370	Human	1	name
596944463	CV3543208	single nucleotide variant	NM_148960.3(CLDN19):c.263T>A (p.Val88Glu)	Renal hypomagnesemia 5 with ocular involvement [RCV004799080]	likely pathogenic	1	42738546	42738546	Human	1	name
596944709	CV3543211	single nucleotide variant	NM_148960.3(CLDN19):c.241C>T (p.Arg81Trp)	Renal hypomagnesemia 5 with ocular involvement [RCV004799083]	likely pathogenic	1	42738568	42738568	Human	1	name
596938230	CV3550025	single nucleotide variant	NM_006580.4(CLDN16):c.152T>G (p.Val51Gly)	Thrombocytopenia 5 [RCV004813329]	pathogenic	3	190402374	190402374	Human	1	name
597647165	CV3660249	single nucleotide variant	NM_006984.5(CLDN10):c.247A>G (p.Met83Val)	Inborn genetic diseases [RCV004973951]	uncertain significance	13	95560158	95560158	Human	1	name
597647174	CV3660251	single nucleotide variant	NM_006984.5(CLDN10):c.143A>G (p.Asn48Ser)	Inborn genetic diseases [RCV004973953]	uncertain significance	13	95552896	95552896	Human	1	name
597782312	CV3660262	single nucleotide variant	NM_012131.3(CLDN17):c.221C>T (p.Pro74Leu)	not specified [RCV004899988]	uncertain significance	21	30166397	30166397	Human		name
597782317	CV3660263	single nucleotide variant	NM_012131.3(CLDN17):c.173C>A (p.Ala58Asp)	not specified [RCV004899989]	uncertain significance	21	30166445	30166445	Human		name
597782322	CV3660264	single nucleotide variant	NM_016369.4(CLDN18):c.233C>T (p.Ala78Val)	not specified [RCV004899990]	uncertain significance	3	138023670	138023670	Human		name
597647217	CV3660272	single nucleotide variant	NM_148960.3(CLDN19):c.178G>C (p.Gly60Arg)	Inborn genetic diseases [RCV004973961]	uncertain significance	1	42739886	42739886	Human	1	name
597631911	CV3660273	single nucleotide variant	NM_148960.3(CLDN19):c.182A>C (p.Gln61Pro)	Inborn genetic diseases [RCV004967874]	uncertain significance	1	42739882	42739882	Human	1	name
597647220	CV3660274	single nucleotide variant	NM_148960.3(CLDN19):c.157T>A (p.Ser53Thr)	Inborn genetic diseases [RCV004973962]	uncertain significance	1	42739907	42739907	Human	1	name
597751085	CV3709524	single nucleotide variant	NM_148960.3(CLDN19):c.277G>C (p.Val93Leu)	Renal hypomagnesemia 5 with ocular involvement [RCV005015779]	uncertain significance	1	42738532	42738532	Human	1	name
597751137	CV3709548	single nucleotide variant	NM_148960.3(CLDN19):c.173G>T (p.Ser58Ile)	Renal hypomagnesemia 5 with ocular involvement [RCV005015789]	uncertain significance	1	42739891	42739891	Human	1	name
597751834	CV3709563	single nucleotide variant	NM_148960.3(CLDN19):c.148C>T (p.Leu50Phe)	Inborn genetic diseases [RCV005323682]\|Renal hypomagnesemia 5 with ocular involvement [RCV005015802]	uncertain significance	1	42739916	42739916	Human	2	name
597662730	CV3709577	single nucleotide variant	NM_148960.3(CLDN19):c.124A>G (p.Thr42Ala)	Renal hypomagnesemia 5 with ocular involvement [RCV005028679]	uncertain significance	1	42739940	42739940	Human	1	name
597751584	CV3709580	single nucleotide variant	NM_148960.3(CLDN19):c.106G>T (p.Ala36Ser)	Renal hypomagnesemia 5 with ocular involvement [RCV005015818]	uncertain significance	1	42739958	42739958	Human	1	name
597716411	CV3717423	single nucleotide variant	NM_006580.4(CLDN16):c.110T>C (p.Leu37Pro)	Primary hypomagnesemia [RCV005035296]	uncertain significance	3	190388439	190388439	Human	1	name
597637951	CV3717425	single nucleotide variant	NM_006580.4(CLDN16):c.119G>A (p.Ser40Asn)	Primary hypomagnesemia [RCV005024568]	uncertain significance	3	190402341	190402341	Human	1	name
597716419	CV3717426	single nucleotide variant	NM_006580.4(CLDN16):c.142T>C (p.Trp48Arg)	Primary hypomagnesemia [RCV005035297]	uncertain significance	3	190402364	190402364	Human	1	name
597716430	CV3717427	single nucleotide variant	NM_006580.4(CLDN16):c.175C>T (p.Arg59Cys)	Primary hypomagnesemia [RCV005035298]	uncertain significance	3	190402397	190402397	Human	1	name
597637956	CV3717428	single nucleotide variant	NM_006580.4(CLDN16):c.208G>A (p.Glu70Lys)	Primary hypomagnesemia [RCV005024569]	uncertain significance	3	190402430	190402430	Human	1	name
597638571	CV3717431	single nucleotide variant	NM_006580.4(CLDN16):c.236G>T (p.Arg79Leu)	Primary hypomagnesemia [RCV005024572]	likely pathogenic	3	190404780	190404780	Human	1	name
597637982	CV3717432	single nucleotide variant	NM_006580.4(CLDN16):c.238G>T (p.Ala80Ser)	Primary hypomagnesemia [RCV005024573]	uncertain significance	3	190404782	190404782	Human	1	name
597921109	CV3811828	single nucleotide variant	NM_006580.4(CLDN16):c.139T>C (p.Trp47Arg)	not provided [RCV005155659]	uncertain significance	3	190402361	190402361	Human		name
598231237	CV3886437	single nucleotide variant	NM_148960.3(CLDN19):c.223G>C (p.Gly75Arg)	Renal hypomagnesemia 5 with ocular involvement [RCV005255881]	likely pathogenic	1	42739841	42739841	Human	1	name
598242756	CV3944495	single nucleotide variant	NM_006580.4(CLDN16):c.168T>A (p.Asp56Glu)	Inborn genetic diseases [RCV005321796]	uncertain significance	3	190402390	190402390	Human	1	name
598242776	CV3944500	single nucleotide variant	NM_016369.4(CLDN18):c.274A>G (p.Ile92Val)	not specified [RCV005321800]	uncertain significance	3	138023711	138023711	Human		name
616937437	CV4010425	single nucleotide variant	NM_006580.4(CLDN16):c.127T>C (p.Cys43Arg)	Primary hypomagnesemia [RCV005406195]	uncertain significance	3	190402349	190402349	Human	1	name
13435675	CV432257	single nucleotide variant	NM_006984.5(CLDN10):c.144C>G (p.Asn48Lys)	HELIX syndrome [RCV000505520]	pathogenic	13	95552897	95552897	Human	1	name
13435586	CV432291	deletion	NM_006580.4(CLDN16):c.468del (p.Gly157fs)	Primary hypomagnesemia [RCV000505624]	pathogenic	3	190408398	190408398	Human	1	name
8606908	CV53255	single nucleotide variant	NM_001146079.2(CLDN14):c.63G>A (p.Thr21=)	Autosomal recessive nonsyndromic hearing loss 29 [RCV000384164]\|not provided [RCV000991810]\|not specified [RCV000037063]	benign\|likely benign	21	36461633	36461633	Human	1	name
13674156	CV536194	single nucleotide variant	NM_006580.4(CLDN16):c.206C>T (p.Ala69Val)	Primary hypomagnesemia [RCV000656736]	pathogenic\|likely pathogenic	3	190402428	190402428	Human	1	name
13706593	CV539120	single nucleotide variant	NM_148960.3(CLDN19):c.269T>G (p.Leu90Arg)	Renal hypomagnesemia 5 with ocular involvement [RCV000662264]\|not provided [RCV001868182]	pathogenic\|likely pathogenic	1	42738540	42738540	Human	1	name
13705006	CV539121	single nucleotide variant	NM_148960.3(CLDN19):c.169C>T (p.Gln57Ter)	Renal hypomagnesemia 5 with ocular involvement [RCV000662265]	pathogenic	1	42739895	42739895	Human	1	name
15154309	CV732452	single nucleotide variant	NM_148960.3(CLDN19):c.277G>A (p.Val93Met)	not provided [RCV000901929]	likely benign\|conflicting interpretations of pathogenicity	1	42738532	42738532	Human		name
8621470	CV75444	single nucleotide variant	NM_148960.3(CLDN19):c.128C>T (p.Ala43Val)	not provided [RCV000054666]	uncertain significance	1	42739936	42739936	Human		name
8621471	CV75445	single nucleotide variant	NM_148960.3(CLDN19):c.153G>T (p.Trp51Cys)	Renal hypomagnesemia 5 with ocular involvement [RCV005016349]\|not provided [RCV000054667]	uncertain significance	1	42739911	42739911	Human	1	name
8621479	CV75453	single nucleotide variant	NM_001146079.2(CLDN14):c.60C>T (p.Gly20=)	not provided [RCV000054675]	uncertain significance	21	36461636	36461636	Human		name
26920578	CV823966	single nucleotide variant	NM_148960.3(CLDN19):c.130G>T (p.Val44Leu)	not provided [RCV001048002]	uncertain significance	1	42739934	42739934	Human		name
28894300	CV864412	single nucleotide variant	NM_148960.3(CLDN19):c.140A>G (p.Tyr47Cys)	Renal hypomagnesemia 5 with ocular involvement [RCV001101334]	uncertain significance	1	42739924	42739924	Human	1	name
38465604	CV943451	single nucleotide variant	NM_006580.4(CLDN16):c.106T>C (p.Ser36Pro)	Primary hypomagnesemia [RCV002484254]\|not provided [RCV001230173]	uncertain significance	3	190388435	190388435	Human	1	name
38598073	CV963165	deletion	NM_006984.5(CLDN10):c.653del (p.Pro218fs)	HELIX syndrome [RCV001251100]	pathogenic\|likely pathogenic	13	95577978	95577978	Human	1	name
127273022	CV1108676	single nucleotide variant	NM_005602.6(CLDN11):c.622T>C (p.Ter208Gln)	Leukodystrophy, hypomyelinating, 22 [RCV001431513]	pathogenic	3	170432754	170432754	Human	1	name
127273028	CV1108677	single nucleotide variant	NM_005602.6(CLDN11):c.622T>G (p.Ter208Glu)	Leukodystrophy, hypomyelinating, 22 [RCV001431515]	pathogenic	3	170432754	170432754	Human	1	name
150408205	CV1178512	single nucleotide variant	NM_001146079.2(CLDN14):c.294C>T (p.Ala98=)	not provided [RCV001545814]	benign\|likely benign	21	36461402	36461402	Human		name
150547309	CV1291971	single nucleotide variant	NM_006580.4(CLDN16):c.466C>A (p.Leu156Ile)	Primary hypomagnesemia [RCV001733637]	uncertain significance	3	190408397	190408397	Human	1	name
150556467	CV1303152	single nucleotide variant	NM_148960.3(CLDN19):c.622C>T (p.Arg208Ter)	Renal hypomagnesemia 5 with ocular involvement [RCV002477979]\|not provided [RCV001774345]	uncertain significance	1	42735882	42735882	Human	1	name
150536920	CV1314367	single nucleotide variant	NM_006580.4(CLDN16):c.494C>A (p.Ser165Tyr)	Primary hypomagnesemia [RCV001780794]	likely pathogenic	3	190408425	190408425	Human	1	name
151722356	CV1389249	single nucleotide variant	NM_148960.3(CLDN19):c.314C>T (p.Thr105Met)	Renal hypomagnesemia 5 with ocular involvement [RCV002507776]\|not provided [RCV002040259]	uncertain significance	1	42738495	42738495	Human	1	name
151804169	CV1401701	single nucleotide variant	NM_148960.3(CLDN19):c.658G>T (p.Gly220Cys)	Renal hypomagnesemia 5 with ocular involvement [RCV002478166]\|not provided [RCV001932585]	uncertain significance	1	42735103	42735103	Human	1	name
151869674	CV1444026	single nucleotide variant	NM_148960.3(CLDN19):c.579C>G (p.Asn193Lys)	Renal hypomagnesemia 5 with ocular involvement [RCV005023408]\|not provided [RCV001925039]	uncertain significance	1	42735925	42735925	Human	1	name
151838160	CV1445330	single nucleotide variant	NM_148960.3(CLDN19):c.652G>A (p.Ala218Thr)	Renal hypomagnesemia 5 with ocular involvement [RCV002497949]\|not provided [RCV001994417]	uncertain significance	1	42735109	42735109	Human	1	name
151873757	CV1493353	single nucleotide variant	NM_006580.4(CLDN16):c.562T>C (p.Tyr188His)	Inborn genetic diseases [RCV002557595]\|Primary hypomagnesemia [RCV002484416]\|not provided [RCV001906814]	uncertain significance	3	190408493	190408493	Human	2	name
151853438	CV1514617	single nucleotide variant	NM_006580.4(CLDN16):c.415G>A (p.Ala139Thr)	not provided [RCV001979241]	likely pathogenic	3	190408346	190408346	Human		name
152057147	CV1670548	single nucleotide variant	NM_006580.4(CLDN16):c.487G>T (p.Gly163Cys)	Primary hypomagnesemia [RCV002502045]\|not provided [RCV002226068]	likely pathogenic	3	190408418	190408418	Human	1	name
153305010	CV1687458	single nucleotide variant	NM_001146079.2(CLDN14):c.105C>T (p.His35=)	not provided [RCV002263278]	likely benign	21	36461591	36461591	Human		name
155267309	CV1699537	single nucleotide variant	NM_148960.3(CLDN19):c.316C>T (p.Arg106Trp)	not provided [RCV002283332]	uncertain significance	1	42738493	42738493	Human		name
9691504	CV176238	single nucleotide variant	NM_001146079.2(CLDN14):c.273G>A (p.Ser91=)	not provided [RCV000895619]\|not specified [RCV000150342]	likely benign\|uncertain significance	21	36461423	36461423	Human		name
155725933	CV1773657	single nucleotide variant	NM_006580.4(CLDN16):c.518C>T (p.Ser173Phe)	not provided [RCV002301449]	uncertain significance	3	190408449	190408449	Human		name
155721944	CV1781338	single nucleotide variant	NM_006580.4(CLDN16):c.329C>T (p.Pro110Leu)	not provided [RCV002306414]	uncertain significance	3	190404873	190404873	Human		name
156226013	CV1956688	single nucleotide variant	NM_148960.3(CLDN19):c.619G>A (p.Ala207Thr)	not provided [RCV002575704]	uncertain significance	1	42735885	42735885	Human		name
156191955	CV1974519	single nucleotide variant	NM_148960.3(CLDN19):c.317G>A (p.Arg106Gln)	Renal hypomagnesemia 5 with ocular involvement [RCV005019266]\|not provided [RCV002625448]	uncertain significance	1	42738492	42738492	Human	1	name
156327823	CV1982355	single nucleotide variant	NM_006580.4(CLDN16):c.460A>G (p.Ile154Val)	Primary hypomagnesemia [RCV005032363]\|not provided [RCV002649655]	uncertain significance	3	190408391	190408391	Human	1	name
156414250	CV1986560	single nucleotide variant	NM_006580.4(CLDN16):c.547C>T (p.Leu183Phe)	not provided [RCV002609117]	uncertain significance	3	190408478	190408478	Human		name
156393417	CV1988034	single nucleotide variant	NM_006580.4(CLDN16):c.588G>C (p.Glu196Asp)	not provided [RCV002635210]	uncertain significance	3	190409916	190409916	Human		name
155911973	CV2010953	single nucleotide variant	NM_006580.4(CLDN16):c.398T>C (p.Ile133Thr)	not provided [RCV002681788]	uncertain significance	3	190408329	190408329	Human		name
156016968	CV2035336	single nucleotide variant	NM_148960.3(CLDN19):c.626A>G (p.Glu209Gly)	Renal hypomagnesemia 5 with ocular involvement [RCV005019371]\|not provided [RCV002780456]	uncertain significance	1	42735878	42735878	Human	1	name
155911362	CV2037655	single nucleotide variant	NM_006580.4(CLDN16):c.611G>T (p.Arg204Met)	not provided [RCV002771608]	uncertain significance	3	190409939	190409939	Human		name
156330059	CV2094728	single nucleotide variant	NM_148960.3(CLDN19):c.409G>T (p.Val137Phe)	not provided [RCV002899867]	uncertain significance	1	42738293	42738293	Human		name
8559007	CV20965	single nucleotide variant	NM_006580.4(CLDN16):c.505G>A (p.Gly169Arg)	Primary hypomagnesemia [RCV000006289]\|not provided [RCV001851693]	pathogenic	3	190408436	190408436	Human	1	name
8559008	CV20966	single nucleotide variant	NM_006580.4(CLDN16):c.361G>A (p.Gly121Arg)	Primary hypomagnesemia [RCV000006290]	pathogenic	3	190404905	190404905	Human	1	name
8559009	CV20967	single nucleotide variant	NM_006580.4(CLDN16):c.383G>A (p.Gly128Asp)	Primary hypomagnesemia [RCV000006291]\|not provided [RCV005089191]	pathogenic\|likely pathogenic	3	190408314	190408314	Human	1	name
8559012	CV20970	single nucleotide variant	NM_006580.4(CLDN16):c.485T>G (p.Phe162Cys)	Nephrocalcinosis [RCV000662319]\|Primary hypomagnesemia [RCV000006294]	pathogenic\|likely pathogenic\|uncertain significance	3	190408416	190408416	Human	4	name
8559013	CV20971	single nucleotide variant	NM_006580.4(CLDN16):c.488G>A (p.Gly163Asp)	Primary hypomagnesemia [RCV000006295]	pathogenic	3	190408419	190408419	Human	1	name
8559014	CV20972	single nucleotide variant	NM_006580.4(CLDN16):c.494C>T (p.Ser165Phe)	Primary hypomagnesemia [RCV000006296]	pathogenic	3	190408425	190408425	Human	1	name
8559019	CV20977	single nucleotide variant	NM_006580.4(CLDN16):c.453G>T (p.Leu151Phe)	Primary hypomagnesemia [RCV000006301]	pathogenic	3	190408384	190408384	Human	1	name
8559020	CV20978	single nucleotide variant	NM_006580.4(CLDN16):c.698C>G (p.Thr233Arg)	HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING [RCV000006302]	pathogenic	3	190410026	190410026	Human	1	name
8559021	CV20979	single nucleotide variant	NM_006580.4(CLDN16):c.621T>G (p.Tyr207Ter)	Primary hypomagnesemia [RCV000006303]	pathogenic	3	190409949	190409949	Human	1	name
156186964	CV2195720	single nucleotide variant	NM_006580.4(CLDN16):c.698C>A (p.Thr233Lys)	Inborn genetic diseases [RCV002665652]	uncertain significance	3	190410026	190410026	Human	1	name
156114457	CV2208911	single nucleotide variant	NM_014343.3(CLDN15):c.314T>C (p.Ile105Thr)	not specified [RCV004085277]	uncertain significance	7	101234346	101234346	Human		name
156330176	CV2210566	single nucleotide variant	NM_006984.5(CLDN10):c.358G>T (p.Ala120Ser)	Inborn genetic diseases [RCV002673215]	uncertain significance	13	95560269	95560269	Human	1	name
155978942	CV2247151	single nucleotide variant	NM_014343.3(CLDN15):c.344A>G (p.Lys115Arg)	not specified [RCV004114679]	uncertain significance	7	101234316	101234316	Human		name
156071048	CV2267209	single nucleotide variant	NM_006984.5(CLDN10):c.554A>G (p.Asp185Gly)	Inborn genetic diseases [RCV002823451]	uncertain significance	13	95577320	95577320	Human	1	name
156000035	CV2287337	single nucleotide variant	NM_016369.4(CLDN18):c.469G>A (p.Gly157Ser)	not specified [RCV004146959]	uncertain significance	3	138024690	138024690	Human		name
156304107	CV2308569	single nucleotide variant	NM_005602.6(CLDN11):c.563A>G (p.Asn188Ser)	not specified [RCV004166844]	uncertain significance	3	170432695	170432695	Human		name
156170126	CV2312484	single nucleotide variant	NM_148960.3(CLDN19):c.407C>T (p.Ala136Val)	Inborn genetic diseases [RCV002916508]	uncertain significance	1	42738295	42738295	Human	1	name
156396619	CV2322477	single nucleotide variant	NM_001185072.3(CLDN12):c.10C>T (p.Arg4Trp)	not specified [RCV004180598]	uncertain significance	7	90412686	90412686	Human		name
156156734	CV2322513	single nucleotide variant	NM_148960.3(CLDN19):c.433A>G (p.Thr145Ala)	Inborn genetic diseases [RCV002954995]	uncertain significance	1	42738269	42738269	Human	1	name
155973850	CV2333242	single nucleotide variant	NM_014343.3(CLDN15):c.565G>A (p.Glu189Lys)	not specified [RCV004196573]	uncertain significance	7	101232620	101232620	Human		name
156191920	CV2335955	single nucleotide variant	NM_016369.4(CLDN18):c.476G>A (p.Gly159Asp)	not specified [RCV004189565]	uncertain significance	3	138024697	138024697	Human		name
156285628	CV2345597	single nucleotide variant	NM_012131.3(CLDN17):c.520G>C (p.Val174Leu)	not specified [RCV004205550]	uncertain significance	21	30166098	30166098	Human		name
156005130	CV2357630	single nucleotide variant	NM_016369.4(CLDN18):c.590G>A (p.Arg197Gln)	not specified [RCV004202891]	uncertain significance	3	138029883	138029883	Human		name
156251726	CV2368874	single nucleotide variant	NM_016369.4(CLDN18):c.688G>A (p.Gly230Ser)	not provided [RCV004695699]\|not specified [RCV004207833]	uncertain significance	3	138031043	138031043	Human		name
156268606	CV2372063	single nucleotide variant	NM_016369.4(CLDN18):c.313C>T (p.Arg105Cys)	not specified [RCV004221732]	uncertain significance	3	138023750	138023750	Human		name
156263523	CV2391714	single nucleotide variant	NM_016369.4(CLDN18):c.770A>G (p.Lys257Arg)	not specified [RCV004241869]	uncertain significance	3	138031125	138031125	Human		name
329400041	CV2440427	single nucleotide variant	NM_016369.4(CLDN18):c.634C>G (p.His212Asp)	not specified [RCV004256362]	uncertain significance	3	138030989	138030989	Human		name
329366563	CV2441712	single nucleotide variant	NM_005602.6(CLDN11):c.508G>A (p.Val170Met)	not specified [RCV004259881]	uncertain significance	3	170432640	170432640	Human		name
329378126	CV2450163	single nucleotide variant	NM_006580.4(CLDN16):c.470G>A (p.Gly157Asp)	Inborn genetic diseases [RCV003186528]	uncertain significance	3	190408401	190408401	Human	1	name
329352078	CV2451991	single nucleotide variant	NM_014343.3(CLDN15):c.641A>G (p.Glu214Gly)	not specified [RCV004276944]	uncertain significance	7	101232456	101232456	Human		name
329360285	CV2458579	single nucleotide variant	NM_012131.3(CLDN17):c.542T>G (p.Leu181Arg)	not specified [RCV004268262]	uncertain significance	21	30166076	30166076	Human		name
329390492	CV2459291	single nucleotide variant	NM_005602.6(CLDN11):c.508G>C (p.Val170Leu)	not specified [RCV004274718]	uncertain significance	3	170432640	170432640	Human		name
329376349	CV2471975	single nucleotide variant	NM_148960.3(CLDN19):c.524C>T (p.Ala175Val)	Inborn genetic diseases [RCV003211502]	uncertain significance	1	42735980	42735980	Human	1	name
401719018	CV2679387	single nucleotide variant	NM_006984.5(CLDN10):c.620A>G (p.Tyr207Cys)	Inborn genetic diseases [RCV003243565]	uncertain significance	13	95577947	95577947	Human	1	name
401744398	CV2688155	single nucleotide variant	NM_006580.4(CLDN16):c.413A>T (p.Tyr138Phe)	Inborn genetic diseases [RCV003275288]	uncertain significance	3	190408344	190408344	Human	1	name
401877689	CV2761270	single nucleotide variant	NM_014343.3(CLDN15):c.529C>T (p.Leu177Phe)	not specified [RCV004341142]	uncertain significance	7	101232656	101232656	Human		name
11582184	CV281006	single nucleotide variant	NM_148960.3(CLDN19):c.337A>G (p.Ile113Val)	Renal hypomagnesemia 5 with ocular involvement [RCV000401032]	uncertain significance	1	42738472	42738472	Human	1	name
11579330	CV281010	single nucleotide variant	NM_148960.3(CLDN19):c.335C>T (p.Pro112Leu)	Renal hypomagnesemia 5 with ocular involvement [RCV000300955]\|not provided [RCV002522128]	uncertain significance	1	42738474	42738474	Human	1	name
401910104	CV2813962	single nucleotide variant	NM_006984.5(CLDN10):c.610C>T (p.Arg204Trp)	not provided [RCV003398344]	uncertain significance	13	95577937	95577937	Human		name
11579093	CV282288	single nucleotide variant	NM_148960.3(CLDN19):c.599G>A (p.Arg200Gln)	Renal hypomagnesemia 5 with ocular involvement [RCV000295255]\|not provided [RCV001516776]	benign\|likely benign	1	42735905	42735905	Human	1	name
401927578	CV2825057	single nucleotide variant	NM_005602.6(CLDN11):c.601C>T (p.His201Tyr)	not provided [RCV003439050]	uncertain significance	3	170432733	170432733	Human		name
11587702	CV290489	single nucleotide variant	NM_006580.4(CLDN16):c.670G>A (p.Glu224Lys)	Primary hypomagnesemia [RCV000297264]	uncertain significance	3	190409998	190409998	Human	1	name
11582560	CV294157	single nucleotide variant	NM_006580.4(CLDN16):c.620A>G (p.Tyr207Cys)	Primary hypomagnesemia [RCV000260809]\|not provided [RCV000905980]	benign\|uncertain significance	3	190409948	190409948	Human	1	name
405243618	CV2971655	single nucleotide variant	NM_006580.4(CLDN16):c.641T>C (p.Met214Thr)	not provided [RCV003684633]	uncertain significance	3	190409969	190409969	Human		name
405117252	CV3115953	single nucleotide variant	NM_006580.4(CLDN16):c.674C>T (p.Thr225Met)	Primary hypomagnesemia [RCV005038532]\|not provided [RCV003814443]	uncertain significance	3	190410002	190410002	Human	1	name
405685583	CV3306583	single nucleotide variant	NM_006984.5(CLDN10):c.371T>C (p.Phe124Ser)	Inborn genetic diseases [RCV004444300]	uncertain significance	13	95560282	95560282	Human	1	name
405685588	CV3306584	single nucleotide variant	NM_006984.5(CLDN10):c.649A>C (p.Asn217His)	Inborn genetic diseases [RCV004444301]	uncertain significance	13	95577976	95577976	Human	1	name
405685638	CV3306592	single nucleotide variant	NM_014343.3(CLDN15):c.637C>G (p.Gln213Glu)	not specified [RCV004444310]	uncertain significance	7	101232460	101232460	Human		name
405685689	CV3306601	single nucleotide variant	NM_012131.3(CLDN17):c.386C>T (p.Thr129Met)	not specified [RCV004444319]	uncertain significance	21	30166232	30166232	Human		name
405685705	CV3306604	single nucleotide variant	NM_016369.4(CLDN18):c.517G>A (p.Ala173Thr)	not specified [RCV004444322]	uncertain significance	3	138029810	138029810	Human		name
405685711	CV3306605	single nucleotide variant	NM_016369.4(CLDN18):c.517G>T (p.Ala173Ser)	not specified [RCV004444323]	likely benign	3	138029810	138029810	Human		name
405685715	CV3306606	single nucleotide variant	NM_016369.4(CLDN18):c.577T>A (p.Cys193Ser)	not specified [RCV004444324]	uncertain significance	3	138029870	138029870	Human		name
405685724	CV3306608	single nucleotide variant	NM_016369.4(CLDN18):c.584C>T (p.Ala195Val)	not specified [RCV004444326]	uncertain significance	3	138029877	138029877	Human		name
405685728	CV3306609	single nucleotide variant	NM_016369.4(CLDN18):c.748G>A (p.Glu250Lys)	not specified [RCV004444327]	uncertain significance	3	138031103	138031103	Human		name
405853752	CV3395180	single nucleotide variant	NM_006580.4(CLDN16):c.623C>A (p.Ser208Ter)	Primary hypomagnesemia [RCV004555322]	uncertain significance	3	190409951	190409951	Human	1	name
405866730	CV3401138	single nucleotide variant	NM_148960.3(CLDN19):c.535G>C (p.Gly179Arg)	Renal hypomagnesemia 5 with ocular involvement [RCV004577254]	likely pathogenic	1	42735969	42735969	Human	1	name
407426985	CV3409210	single nucleotide variant	NM_006580.4(CLDN16):c.374T>C (p.Leu125Pro)	Primary hypomagnesemia [RCV004585142]	pathogenic	3	190404918	190404918	Human	1	name
407462338	CV3419344	single nucleotide variant	NM_006984.5(CLDN10):c.442G>A (p.Asp148Asn)	Inborn genetic diseases [RCV004612879]	uncertain significance	13	95560441	95560441	Human	1	name
407462341	CV3419345	single nucleotide variant	NM_006984.5(CLDN10):c.647C>T (p.Thr216Ile)	Inborn genetic diseases [RCV004612880]	uncertain significance	13	95577974	95577974	Human	1	name
407462351	CV3419349	single nucleotide variant	NM_014343.3(CLDN15):c.400G>A (p.Ala134Thr)	not specified [RCV004612884]	uncertain significance	7	101232897	101232897	Human		name
407462363	CV3419354	single nucleotide variant	NM_012131.3(CLDN17):c.343A>G (p.Lys115Glu)	not specified [RCV004612889]	uncertain significance	21	30166275	30166275	Human		name
407462369	CV3419356	single nucleotide variant	NM_012131.3(CLDN17):c.466G>A (p.Gly156Ser)	not specified [RCV004612891]	uncertain significance	21	30166152	30166152	Human		name
407462372	CV3419357	single nucleotide variant	NM_016369.4(CLDN18):c.575T>A (p.Met192Lys)	not specified [RCV004612892]	uncertain significance	3	138029868	138029868	Human		name
407572834	CV3497044	single nucleotide variant	NM_006984.5(CLDN10):c.497G>A (p.Trp166Ter)	HELIX syndrome [RCV004698912]	pathogenic	13	95577263	95577263	Human	1	name
408374560	CV3502465	single nucleotide variant	NM_001146079.2(CLDN14):c.10A>G (p.Thr4Ala)	not provided [RCV004726052]	uncertain significance	21	36461686	36461686	Human		name
408386113	CV3521981	single nucleotide variant	NM_006580.4(CLDN16):c.436C>T (p.Arg146Cys)	Primary hypomagnesemia [RCV004760306]	likely pathogenic	3	190408367	190408367	Human	1	name
597647169	CV3660250	single nucleotide variant	NM_006984.5(CLDN10):c.634G>A (p.Asp212Asn)	Inborn genetic diseases [RCV004973952]	uncertain significance	13	95577961	95577961	Human	1	name
597782295	CV3660253	single nucleotide variant	NM_001185072.3(CLDN12):c.22G>A (p.Ala8Thr)	not specified [RCV004899984]	uncertain significance	7	90412698	90412698	Human		name
597782300	CV3660257	single nucleotide variant	NM_014343.3(CLDN15):c.358G>T (p.Ala120Ser)	not specified [RCV004899985]	uncertain significance	7	101234302	101234302	Human		name
597782541	CV3660258	single nucleotide variant	NM_014343.3(CLDN15):c.625G>A (p.Ala209Thr)	not specified [RCV004899986]	uncertain significance	7	101232472	101232472	Human		name
597782309	CV3660259	single nucleotide variant	NM_014343.3(CLDN15):c.499A>G (p.Ser167Gly)	not specified [RCV004899987]	uncertain significance	7	101232686	101232686	Human		name
597782326	CV3660265	single nucleotide variant	NM_016369.4(CLDN18):c.377T>C (p.Ile126Thr)	not specified [RCV004899991]	uncertain significance	3	138023814	138023814	Human		name
597782330	CV3660266	single nucleotide variant	NM_016369.4(CLDN18):c.541G>A (p.Ala181Thr)	not specified [RCV004899992]	uncertain significance	3	138029834	138029834	Human		name
597647194	CV3660267	single nucleotide variant	NM_148960.3(CLDN19):c.623G>A (p.Arg208Gln)	Inborn genetic diseases [RCV004973957]	uncertain significance	1	42735881	42735881	Human	1	name
597647204	CV3660270	single nucleotide variant	NM_148960.3(CLDN19):c.662C>T (p.Pro221Leu)	Inborn genetic diseases [RCV004973959]	uncertain significance	1	42735099	42735099	Human	1	name
597750873	CV3709416	single nucleotide variant	NM_148960.3(CLDN19):c.659G>T (p.Gly220Val)	Renal hypomagnesemia 5 with ocular involvement [RCV005015742]	uncertain significance	1	42735102	42735102	Human	1	name
597750963	CV3709454	single nucleotide variant	NM_148960.3(CLDN19):c.617C>T (p.Ala206Val)	Renal hypomagnesemia 5 with ocular involvement [RCV005015758]	uncertain significance	1	42735887	42735887	Human	1	name
597662536	CV3709466	single nucleotide variant	NM_148960.3(CLDN19):c.526G>T (p.Val176Leu)	Renal hypomagnesemia 5 with ocular involvement [RCV005028650]	uncertain significance	1	42735978	42735978	Human	1	name
597662557	CV3709479	single nucleotide variant	NM_148960.3(CLDN19):c.503G>T (p.Gly168Val)	Renal hypomagnesemia 5 with ocular involvement [RCV005028653]	uncertain significance	1	42736001	42736001	Human	1	name
597662563	CV3709482	single nucleotide variant	NM_148960.3(CLDN19):c.455G>A (p.Ser152Asn)	Renal hypomagnesemia 5 with ocular involvement [RCV005028654]	uncertain significance	1	42738247	42738247	Human	1	name
597750992	CV3709493	single nucleotide variant	NM_148960.3(CLDN19):c.402G>C (p.Leu134Phe)	Renal hypomagnesemia 5 with ocular involvement [RCV005015763]	uncertain significance	1	42738300	42738300	Human	1	name
597751010	CV3709498	single nucleotide variant	NM_148960.3(CLDN19):c.385G>C (p.Ala129Pro)	Renal hypomagnesemia 5 with ocular involvement [RCV005015766]	uncertain significance	1	42738424	42738424	Human	1	name
597716441	CV3717435	single nucleotide variant	NM_006580.4(CLDN16):c.389C>G (p.Pro130Arg)	Primary hypomagnesemia [RCV005035299]	uncertain significance	3	190408320	190408320	Human	1	name
597716450	CV3717436	single nucleotide variant	NM_006580.4(CLDN16):c.478T>C (p.Tyr160His)	Primary hypomagnesemia [RCV005035300]	uncertain significance	3	190408409	190408409	Human	1	name
597637994	CV3717437	single nucleotide variant	NM_006580.4(CLDN16):c.491G>T (p.Trp164Leu)	Primary hypomagnesemia [RCV005024575]	uncertain significance	3	190408422	190408422	Human	1	name
597637999	CV3717438	single nucleotide variant	NM_006580.4(CLDN16):c.539G>T (p.Gly180Val)	Primary hypomagnesemia [RCV005024576]	uncertain significance	3	190408470	190408470	Human	1	name
597716473	CV3717440	single nucleotide variant	NM_006580.4(CLDN16):c.613A>G (p.Lys205Glu)	Primary hypomagnesemia [RCV005035302]	uncertain significance	3	190409941	190409941	Human	1	name
597638005	CV3717441	single nucleotide variant	NM_006580.4(CLDN16):c.662C>G (p.Pro221Arg)	Primary hypomagnesemia [RCV005024577]	uncertain significance	3	190409990	190409990	Human	1	name
597895598	CV3833703	single nucleotide variant	NM_001146079.2(CLDN14):c.288C>G (p.Ala96=)	not provided [RCV005180395]	likely benign	21	36461408	36461408	Human		name
598228172	CV3894598	single nucleotide variant	NM_005602.6(CLDN11):c.319C>G (p.Arg107Gly)	not provided [RCV005257842]	uncertain significance	3	170423255	170423255	Human		name
8568324	CV39362	single nucleotide variant	NM_006580.4(CLDN16):c.613A>T (p.Lys205Ter)	Primary hypomagnesemia [RCV000023358]	pathogenic	3	190409941	190409941	Human	1	name
598242751	CV3944494	single nucleotide variant	NM_014343.3(CLDN15):c.386T>C (p.Ile129Thr)	not specified [RCV005321795]	uncertain significance	7	101232911	101232911	Human		name
598242759	CV3944496	single nucleotide variant	NM_012131.3(CLDN17):c.341C>T (p.Ala114Val)	not specified [RCV005321797]	likely benign	21	30166277	30166277	Human		name
598242770	CV3944499	single nucleotide variant	NM_016369.4(CLDN18):c.728G>A (p.Gly243Glu)	not specified [RCV005321799]	uncertain significance	3	138031083	138031083	Human		name
598242726	CV3948431	single nucleotide variant	NM_005602.6(CLDN11):c.349T>C (p.Tyr117His)	not specified [RCV005321790]	uncertain significance	3	170423285	170423285	Human		name
598242731	CV3948432	single nucleotide variant	NM_005602.6(CLDN11):c.581C>T (p.Ala194Val)	not specified [RCV005321791]	uncertain significance	3	170432713	170432713	Human		name
598242745	CV3948435	single nucleotide variant	NM_014343.3(CLDN15):c.461C>T (p.Thr154Ile)	not specified [RCV005321794]	uncertain significance	7	101232836	101232836	Human		name
616938524	CV4015013	single nucleotide variant	NM_006580.4(CLDN16):c.534G>C (p.Leu178Phe)	not provided [RCV005412029]	uncertain significance	3	190408465	190408465	Human		name
13435676	CV432258	single nucleotide variant	NM_006984.5(CLDN10):c.392C>T (p.Ser131Leu)	HELIX syndrome [RCV000505524]	pathogenic	13	95560391	95560391	Human	1	name
13535207	CV497789	single nucleotide variant	NM_001146079.2(CLDN14):c.102G>A (p.Ala34=)	not provided [RCV000896979]\|not specified [RCV000607610]	likely benign	21	36461594	36461594	Human		name
8606904	CV53251	single nucleotide variant	NM_001146079.2(CLDN14):c.11C>T (p.Thr4Met)	Autosomal recessive nonsyndromic hearing loss 29 [RCV001000269]\|not provided [RCV000991809]\|not specified [RCV000037059]	benign\|likely benign	21	36461685	36461685	Human	1	name
8606905	CV53252	single nucleotide variant	NM_001146079.2(CLDN14):c.243C>T (p.Arg81=)	Autosomal recessive nonsyndromic hearing loss 29 [RCV000288816]\|not provided [RCV002054633]\|not specified [RCV000037060]	benign\|likely benign	21	36461453	36461453	Human	2	name
13704979	CV539124	single nucleotide variant	NM_148960.3(CLDN19):c.535G>A (p.Gly179Ser)	Nephrocalcinosis [RCV000662320]\|Renal hypomagnesemia 5 with ocular involvement [RCV002470946]\|not provided [RCV003727792]	likely pathogenic\|uncertain significance	1	42735969	42735969	Human	4	name
13798576	CV551446	single nucleotide variant	NM_006580.4(CLDN16):c.392G>A (p.Gly131Glu)	Primary hypomagnesemia [RCV000678491]	pathogenic	3	190408323	190408323	Human	1	name
13796235	CV551674	single nucleotide variant	NM_148960.3(CLDN19):c.388G>T (p.Gly130Cys)	Renal hypomagnesemia 5 with ocular involvement [RCV000678679]	pathogenic	1	42738421	42738421	Human	1	name
15040301	CV682738	single nucleotide variant	NM_006984.5(CLDN10):c.431C>T (p.Thr144Met)	Hypokalemia [RCV000856682]\|Inborn genetic diseases [RCV003169089]	uncertain significance	13	95560430	95560430	Human	5	name
8621469	CV75443	single nucleotide variant	NM_148960.3(CLDN19):c.671T>A (p.Val224Glu)	Inborn genetic diseases [RCV003162429]\|Renal hypomagnesemia 5 with ocular involvement [RCV002496730]\|not provided [RCV000054665]	uncertain significance	1	42735090	42735090	Human	2	name
8621472	CV75446	single nucleotide variant	NM_148960.3(CLDN19):c.301G>A (p.Gly101Ser)	not provided [RCV000054668]	uncertain significance	1	42738508	42738508	Human		name
8621482	CV75456	single nucleotide variant	NM_006984.5(CLDN10):c.420C>A (p.Asn140Lys)	not provided [RCV000054678]	uncertain significance	13	95560419	95560419	Human		name
8621483	CV75457	single nucleotide variant	NM_006984.5(CLDN10):c.505G>T (p.Ala169Ser)	not provided [RCV000054679]	uncertain significance	13	95577271	95577271	Human		name
21071283	CV790374	single nucleotide variant	NM_006580.4(CLDN16):c.382G>C (p.Gly128Arg)	Primary hypomagnesemia [RCV000987375]	likely pathogenic	3	190404926	190404926	Human	1	name
26914469	CV823965	single nucleotide variant	NM_148960.3(CLDN19):c.646G>A (p.Ala216Thr)	Inborn genetic diseases [RCV004031037]\|Renal hypomagnesemia 5 with ocular involvement [RCV001099341]\|not provided [RCV001037563]	uncertain significance	1	42735115	42735115	Human	2	name
26915211	CV827816	single nucleotide variant	NM_006580.4(CLDN16):c.355G>T (p.Val119Phe)	not provided [RCV001038625]	uncertain significance	3	190404899	190404899	Human		name
28905669	CV859245	single nucleotide variant	NM_006580.4(CLDN16):c.437G>A (p.Arg146His)	Primary hypomagnesemia [RCV003142041]\|not provided [RCV001093268]	pathogenic\|likely pathogenic	3	190408368	190408368	Human	1	name
28889194	CV864408	single nucleotide variant	NM_148960.3(CLDN19):c.560C>T (p.Pro187Leu)	Inborn genetic diseases [RCV003372992]\|Renal hypomagnesemia 5 with ocular involvement [RCV001099342]	uncertain significance	1	42735944	42735944	Human	2	name
28889201	CV864410	single nucleotide variant	NM_148960.3(CLDN19):c.439G>A (p.Glu147Lys)	Renal hypomagnesemia 5 with ocular involvement [RCV001099344]	uncertain significance	1	42738263	42738263	Human	1	name
28889207	CV864411	single nucleotide variant	NM_148960.3(CLDN19):c.350G>A (p.Arg117His)	Renal hypomagnesemia 5 with ocular involvement [RCV001099345]	uncertain significance	1	42738459	42738459	Human	1	name
28901503	CV886758	single nucleotide variant	NM_001146079.2(CLDN14):c.129C>T (p.Ala43=)	Autosomal recessive nonsyndromic hearing loss 29 [RCV001143199]\|not provided [RCV001593290]	benign\|likely benign\|uncertain significance	21	36461567	36461567	Human	1	name
28903569	CV888534	single nucleotide variant	NM_006580.4(CLDN16):c.539G>C (p.Gly180Ala)	Primary hypomagnesemia [RCV001144096]\|not provided [RCV002032364]	uncertain significance	3	190408470	190408470	Human	1	name
28903581	CV888536	single nucleotide variant	NM_006580.4(CLDN16):c.596A>G (p.Tyr199Cys)	Primary hypomagnesemia [RCV001144099]	uncertain significance	3	190409924	190409924	Human	1	name
28903586	CV888537	single nucleotide variant	NM_006580.4(CLDN16):c.628G>A (p.Ala210Thr)	Primary hypomagnesemia [RCV001144101]	uncertain significance	3	190409956	190409956	Human	1	name
38496784	CV941940	single nucleotide variant	NM_148960.3(CLDN19):c.526G>A (p.Val176Met)	Inborn genetic diseases [RCV003246776]\|Renal hypomagnesemia 5 with ocular involvement [RCV002497773]\|not provided [RCV001226625]	likely benign\|uncertain significance	1	42735978	42735978	Human	2	name
38499997	CV953413	single nucleotide variant	NM_006580.4(CLDN16):c.392G>C (p.Gly131Ala)	Inborn genetic diseases [RCV002564094]\|Primary hypomagnesemia [RCV005029831]\|not provided [RCV001245388]	uncertain significance	3	190408323	190408323	Human	2	name
41406735	CV962667	single nucleotide variant	NM_148960.3(CLDN19):c.530T>G (p.Leu177Arg)	Renal hypomagnesemia 5 with ocular involvement [RCV001281174]	likely pathogenic	1	42735974	42735974	Human	1	name
41406733	CV962698	single nucleotide variant	NM_006580.4(CLDN16):c.458A>G (p.Asn153Ser)	Inborn genetic diseases [RCV002570440]\|Primary hypomagnesemia [RCV001281173]\|not provided [RCV001879805]	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	190408389	190408389	Human	2	name
126752397	CV987515	single nucleotide variant	NM_148960.3(CLDN19):c.349C>T (p.Arg117Cys)	Renal hypomagnesemia 5 with ocular involvement [RCV002486140]\|not provided [RCV001297720]	uncertain significance	1	42738460	42738460	Human	1	name
126910636	CV1053400	single nucleotide variant	NM_001146079.2(CLDN14):c.89G>A (p.Trp30Ter)	Hearing impairment [RCV001375278]\|not provided [RCV002550952]	pathogenic\|likely pathogenic\|uncertain significance	21	36461607	36461607	Human	2	name
126910565	CV1053401	single nucleotide variant	NM_001146079.2(CLDN14):c.49G>A (p.Gly17Ser)	Alport syndrome [RCV001375234]	uncertain significance	21	36461647	36461647	Human	1	name
151351253	CV1323788	single nucleotide variant	NM_001146079.2(CLDN14):c.315G>A (p.Thr105=)	not provided [RCV001810334]	likely benign	21	36461381	36461381	Human		name
152139511	CV1638203	single nucleotide variant	NM_001146079.2(CLDN14):c.549G>A (p.Leu183=)	not provided [RCV002177870]	likely benign	21	36461147	36461147	Human		name
152105588	CV1640789	single nucleotide variant	NM_001146079.2(CLDN14):c.588C>G (p.Ala196=)	not provided [RCV002096114]	benign	21	36461108	36461108	Human		name
9691503	CV176237	single nucleotide variant	NM_001146079.2(CLDN14):c.369C>A (p.Thr123=)	Autosomal recessive nonsyndromic hearing loss 29 [RCV001141350]\|not provided [RCV003764905]\|not specified [RCV000150341]	likely benign	21	36461327	36461327	Human	1	name
9687632	CV176359	single nucleotide variant	NM_001146079.2(CLDN14):c.471G>A (p.Lys157=)	not provided [RCV000977853]\|not specified [RCV000150340]	likely benign	21	36461225	36461225	Human		name
9689747	CV176360	single nucleotide variant	NM_001146079.2(CLDN14):c.300C>T (p.Ile100=)	Autosomal recessive nonsyndromic hearing loss 29 [RCV001141351]\|not provided [RCV000966264]\|not specified [RCV000155356]	benign\|likely benign\|conflicting interpretations of pathogenicity	21	36461396	36461396	Human	1	name
9690717	CV176361	single nucleotide variant	NM_001146079.2(CLDN14):c.83C>T (p.Pro28Leu)	not provided [RCV005235048]\|not specified [RCV000156406]	pathogenic\|uncertain significance	21	36461613	36461613	Human		name
156360654	CV1898907	single nucleotide variant	NM_001146079.2(CLDN14):c.603C>A (p.Thr201=)	not provided [RCV003091685]	likely benign	21	36461093	36461093	Human		name
156289516	CV2299359	single nucleotide variant	NM_001185072.3(CLDN12):c.49G>A (p.Gly17Arg)	not specified [RCV004152666]	uncertain significance	7	90412725	90412725	Human		name
11090629	CV231118	single nucleotide variant	NM_001146079.2(CLDN14):c.495C>T (p.Tyr165=)	not specified [RCV000216296]	likely benign	21	36461201	36461201	Human		name
156384859	CV2371626	single nucleotide variant	NM_001146079.2(CLDN14):c.92G>A (p.Arg31Gln)	Inborn genetic diseases [RCV002679508]	uncertain significance	21	36461604	36461604	Human	1	name
243057676	CV2404480	single nucleotide variant	NM_001146079.2(CLDN14):c.77T>A (p.Ile26Asn)	not provided [RCV003129506]	uncertain significance	21	36461619	36461619	Human		name
243059166	CV2417208	single nucleotide variant	NM_001146079.2(CLDN14):c.91C>T (p.Arg31Trp)	not provided [RCV003152079]	uncertain significance	21	36461605	36461605	Human		name
11545974	CV257459	single nucleotide variant	NM_001146079.2(CLDN14):c.450G>A (p.Pro150=)	not provided [RCV005055799]\|not specified [RCV000245859]	likely benign	21	36461246	36461246	Human		name
11641927	CV274302	single nucleotide variant	NM_001146079.2(CLDN14):c.321C>T (p.Cys107=)	Autosomal recessive nonsyndromic hearing loss 29 [RCV002480050]\|not provided [RCV000366051]	conflicting interpretations of pathogenicity\|uncertain significance	21	36461375	36461375	Human	1	name
405223182	CV2908409	deletion	NM_001146079.2(CLDN14):c.203del (p.Arg68fs)	not provided [RCV003568640]	pathogenic	21	36461493	36461493	Human		name
11649082	CV293570	deletion	NM_006580.3(CLDN16):c.38delT (p.Leu13Cysfs)	Primary hypomagnesemia [RCV000285445]	uncertain significance	3	190388155	190388155	Human		name
405222481	CV3038769	single nucleotide variant	NM_001146079.2(CLDN14):c.513G>A (p.Ser171=)	not provided [RCV003710178]	likely benign	21	36461183	36461183	Human		name
405158153	CV3061526	single nucleotide variant	NM_001146079.2(CLDN14):c.588C>A (p.Ala196=)	not provided [RCV003726906]	likely benign	21	36461108	36461108	Human		name
405704289	CV3225087	duplication	NM_148960.3(CLDN19):c.-24_47dup (p.Gly17fs)	Renal hypomagnesemia 5 with ocular involvement [RCV003990043]	uncertain significance	1	42740016	42740017	Human	1	name
11623857	CV336755	single nucleotide variant	NM_001146079.2(CLDN14):c.522G>A (p.Ser174=)	Autosomal recessive nonsyndromic hearing loss 29 [RCV000378098]\|not provided [RCV001580485]	likely benign\|uncertain significance	21	36461174	36461174	Human	1	name
11626517	CV346418	single nucleotide variant	NM_001146079.2(CLDN14):c.450G>T (p.Pro150=)	Autosomal recessive nonsyndromic hearing loss 29 [RCV000264904]\|not provided [RCV005055904]	likely benign\|uncertain significance	21	36461246	36461246	Human	1	name
11657738	CV346427	single nucleotide variant	NM_001146079.2(CLDN14):c.96G>C (p.Arg32Ser)	Autosomal recessive nonsyndromic hearing loss 29 [RCV000343853]	uncertain significance	21	36461600	36461600	Human	1	name
597853723	CV3743539	single nucleotide variant	NM_001146079.2(CLDN14):c.708C>T (p.Asn236=)	not provided [RCV005060889]	likely benign	21	36460988	36460988	Human		name
597898618	CV3806977	single nucleotide variant	NM_001146079.2(CLDN14):c.351T>C (p.Phe117=)	not provided [RCV005152364]	likely benign	21	36461345	36461345	Human		name
597936518	CV3852207	single nucleotide variant	NM_001146079.2(CLDN14):c.486G>A (p.Gln162=)	not provided [RCV005186804]	likely benign	21	36461210	36461210	Human		name
617150198	CV4019166	deletion	NM_001146079.2(CLDN14):c.2_20del (p.Met1fs)	not provided [RCV005423574]	uncertain significance	21	36461676	36461694	Human		name
8606907	CV53254	single nucleotide variant	NM_001146079.2(CLDN14):c.633C>T (p.Tyr211=)	Autosomal recessive nonsyndromic hearing loss 29 [RCV001138768]\|not provided [RCV000711209]\|not specified [RCV000037062]	benign	21	36461063	36461063	Human	1	name
8606909	CV53256	single nucleotide variant	NM_001146079.2(CLDN14):c.687G>A (p.Thr229=)	Autosomal recessive nonsyndromic hearing loss 29 [RCV000353929]\|not provided [RCV002054634]\|not specified [RCV000037064]	benign\|likely benign	21	36461009	36461009	Human	1	name
8606910	CV53257	single nucleotide variant	NM_001146079.2(CLDN14):c.690C>T (p.His230=)	Autosomal recessive nonsyndromic hearing loss 29 [RCV001138766]\|not provided [RCV000725000]\|not specified [RCV000037065]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	21	36461006	36461006	Human	1	name
14746398	CV656658	single nucleotide variant	NM_001146079.2(CLDN14):c.525C>T (p.Leu175=)	not provided [RCV000844408]	likely benign	21	36461171	36461171	Human		name
8621480	CV75454	single nucleotide variant	NM_001146079.2(CLDN14):c.663G>A (p.Arg221=)	not provided [RCV000054676]	uncertain significance	21	36461033	36461033	Human		name
15159357	CV757794	single nucleotide variant	NM_001146079.2(CLDN14):c.591G>A (p.Pro197=)	not provided [RCV000925264]	likely benign	21	36461105	36461105	Human		name
15189088	CV773318	single nucleotide variant	NM_001146079.2(CLDN14):c.606G>C (p.Thr202=)	not provided [RCV000932137]	likely benign	21	36461090	36461090	Human		name
28889625	CV886754	single nucleotide variant	NM_001146079.2(CLDN14):c.681G>A (p.Ser227=)	Autosomal recessive nonsyndromic hearing loss 29 [RCV001138767]\|not provided [RCV002559338]	likely benign\|uncertain significance	21	36461015	36461015	Human	1	name
28896762	CV886756	single nucleotide variant	NM_001146079.2(CLDN14):c.513G>C (p.Ser171=)	Autosomal recessive nonsyndromic hearing loss 29 [RCV001141349]	uncertain significance	21	36461183	36461183	Human	1	name
126910388	CV1053399	single nucleotide variant	NM_001146079.2(CLDN14):c.169C>T (p.His57Tyr)	Hearing impairment [RCV001375125]	uncertain significance	21	36461527	36461527	Human	2	name
151711833	CV1401427	single nucleotide variant	NM_001146079.2(CLDN14):c.292G>A (p.Ala98Thr)	Inborn genetic diseases [RCV005320921]\|not provided [RCV001964457]	uncertain significance	21	36461404	36461404	Human	1	name
151854625	CV1473632	single nucleotide variant	NM_001146079.2(CLDN14):c.266T>C (p.Leu89Pro)	not provided [RCV001904532]	uncertain significance	21	36461430	36461430	Human		name
151786446	CV1495431	single nucleotide variant	NM_001146079.2(CLDN14):c.106G>A (p.Val36Met)	not provided [RCV002026765]	uncertain significance	21	36461590	36461590	Human		name
152153477	CV1667664	deletion	NM_001146079.2(CLDN14):c.664del (p.Ala222fs)	Autosomal recessive nonsyndromic hearing loss 29 [RCV002221415]	uncertain significance	21	36461032	36461032	Human	1	name
153302251	CV1688135	single nucleotide variant	NM_001146079.2(CLDN14):c.156G>A (p.Met52Ile)	not provided [RCV002265361]	uncertain significance	21	36461540	36461540	Human		name
156396604	CV1870861	single nucleotide variant	NM_001146079.2(CLDN14):c.215C>T (p.Ala72Val)	Inborn genetic diseases [RCV004070453]\|not provided [RCV003068669]	uncertain significance	21	36461481	36461481	Human	1	name
156155488	CV1987708	single nucleotide variant	NM_001146079.2(CLDN14):c.181A>T (p.Ile61Phe)	not provided [RCV002642218]	uncertain significance	21	36461515	36461515	Human		name
8558315	CV19889	deletion	NM_001146079.2(CLDN14):c.398del (p.Met133fs)	Autosomal recessive nonsyndromic hearing loss 29 [RCV000005123]	pathogenic	21	36461298	36461298	Human	1	name
8596596	CV19890	single nucleotide variant	NM_001146079.2(CLDN14):c.254T>A (p.Val85Asp)	Autosomal recessive nonsyndromic hearing loss 29 [RCV000005124]\|Hearing impairment [RCV000417186]\|Hearing loss, autosomal recessive [RCV001291511]	pathogenic\|likely pathogenic	21	36461442	36461442	Human	4	name
156193313	CV2223256	single nucleotide variant	NM_001002026.3(CLDN18):c.107A>C (p.Tyr36Ser)	not specified [RCV004105877]	uncertain significance	3	137998975	137998975	Human		name
155976505	CV2228269	single nucleotide variant	NM_001146079.2(CLDN14):c.130G>A (p.Val44Met)	Inborn genetic diseases [RCV002732081]\|not provided [RCV005242322]	uncertain significance	21	36461566	36461566	Human	1	name
155912962	CV2245701	single nucleotide variant	NM_001146079.2(CLDN14):c.101C>T (p.Ala34Val)	Inborn genetic diseases [RCV002771818]	uncertain significance	21	36461595	36461595	Human	1	name
11092821	CV231121	single nucleotide variant	NM_001146079.2(CLDN14):c.185A>G (p.Tyr62Cys)	Vein of Galen aneurysmal malformation [RCV003458356]\|not provided [RCV001594877]\|not specified [RCV000219015]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	21	36461511	36461511	Human	2	name
405685600	CV3306586	single nucleotide variant	NM_001146079.2(CLDN14):c.206C>T (p.Ser69Phe)	Inborn genetic diseases [RCV004444303]	uncertain significance	21	36461490	36461490	Human	1	name
11623887	CV336757	single nucleotide variant	NM_001146079.2(CLDN14):c.295G>A (p.Val99Ile)	Autosomal recessive nonsyndromic hearing loss 29 [RCV000378498]\|not provided [RCV003320632]	uncertain significance	21	36461401	36461401	Human	1	name
407572893	CV3497304	single nucleotide variant	NM_001146079.2(CLDN14):c.291C>A (p.Cys97Ter)	Hearing loss, autosomal recessive [RCV004699151]	pathogenic	21	36461405	36461405	Human	2	name
408384262	CV3526898	single nucleotide variant	NM_001146079.2(CLDN14):c.251T>C (p.Met84Thr)	not provided [RCV004772211]	uncertain significance	21	36461445	36461445	Human		name
597647183	CV3660256	single nucleotide variant	NM_001146079.2(CLDN14):c.278T>C (p.Ile93Thr)	Inborn genetic diseases [RCV004973955]	uncertain significance	21	36461418	36461418	Human	1	name
597751097	CV3709527	duplication	NM_148960.3(CLDN19):c.263_270dup (p.Gly91fs)	Renal hypomagnesemia 5 with ocular involvement [RCV005015781]	likely pathogenic	1	42738538	42738539	Human	1	name
597724698	CV3734554	single nucleotide variant	NM_001146079.2(CLDN14):c.285C>A (p.Cys95Ter)	Autosomal recessive nonsyndromic hearing loss 29 [RCV005053861]	pathogenic	21	36461411	36461411	Human	1	name
597856628	CV3816604	single nucleotide variant	NM_001146079.2(CLDN14):c.171C>A (p.His57Gln)	not provided [RCV005146177]	uncertain significance	21	36461525	36461525	Human		name
598210357	CV3895078	single nucleotide variant	NM_001146079.2(CLDN14):c.134C>T (p.Ser45Phe)	Nonsyndromic genetic hearing loss [RCV005358523]	uncertain significance	21	36461562	36461562	Human	1	name
13519615	CV489172	deletion	NM_001146079.2(CLDN14):c.401del (p.Val134fs)	not provided [RCV000598023]	likely pathogenic	21	36461295	36461295	Human		name
13838632	CV590337	single nucleotide variant	NM_001146079.2(CLDN14):c.191G>A (p.Cys64Tyr)	Autosomal recessive nonsyndromic hearing loss 29 [RCV000735776]	likely pathogenic	21	36461505	36461505	Human	1	name
28901500	CV886757	single nucleotide variant	NM_001146079.2(CLDN14):c.262T>C (p.Cys88Arg)	Autosomal recessive nonsyndromic hearing loss 29 [RCV001143198]	uncertain significance	21	36461434	36461434	Human	1	name
126910812	CV1053398	single nucleotide variant	NM_001146079.2(CLDN14):c.364G>A (p.Gly122Ser)	Autosomal recessive nonsyndromic hearing loss 29 [RCV002493911]\|Hearing impairment [RCV001375416]\|not provided [RCV002276718]	uncertain significance	21	36461332	36461332	Human	3	name
150547589	CV1292089	single nucleotide variant	NM_001146079.2(CLDN14):c.523C>T (p.Leu175Phe)	Autosomal recessive nonsyndromic hearing loss 29 [RCV001733755]\|not provided [RCV002488500]	uncertain significance\|no classifications from unflagged records	21	36461173	36461173	Human	1	name
150533614	CV1294278	single nucleotide variant	NM_001146079.2(CLDN14):c.424G>A (p.Asp142Asn)	not provided [RCV001758296]	uncertain significance	21	36461272	36461272	Human		name
150548013	CV1304965	single nucleotide variant	NM_001146079.2(CLDN14):c.490C>A (p.Leu164Met)	not provided [RCV001764087]	uncertain significance	21	36461206	36461206	Human		name
151732671	CV1336405	single nucleotide variant	NM_001146079.2(CLDN14):c.427G>A (p.Val143Met)	Vein of Galen aneurysmal malformation [RCV001849633]\|not provided [RCV003235603]	association\|uncertain significance	21	36461269	36461269	Human	2	name
151732677	CV1336406	single nucleotide variant	NM_001146079.2(CLDN14):c.337G>C (p.Ala113Pro)	Vein of Galen aneurysmal malformation [RCV001849634]	association	21	36461359	36461359	Human	2	name
151840214	CV1391386	single nucleotide variant	NM_001146079.2(CLDN14):c.463G>A (p.Gly155Ser)	not provided [RCV001977594]	uncertain significance	21	36461233	36461233	Human		name
151736461	CV1463581	single nucleotide variant	NM_001146079.2(CLDN14):c.626C>T (p.Pro209Leu)	not provided [RCV001911461]	uncertain significance	21	36461070	36461070	Human		name
405685606	CV1667253	single nucleotide variant	NM_001146079.2(CLDN14):c.361G>A (p.Gly121Ser)	Inborn genetic diseases [RCV004444304]	uncertain significance	21	36461335	36461335	Human	1	name
152056681	CV1670481	single nucleotide variant	NM_001146079.2(CLDN14):c.347C>T (p.Thr116Ile)	not provided [RCV002226001]	uncertain significance	21	36461349	36461349	Human		name
152980631	CV1676032	single nucleotide variant	NM_001146079.2(CLDN14):c.661C>T (p.Arg221Trp)	not provided [RCV002245101]	uncertain significance	21	36461035	36461035	Human		name
156169247	CV1867017	single nucleotide variant	NM_001146079.2(CLDN14):c.414G>A (p.Trp138Ter)	not provided [RCV002508569]	likely pathogenic	21	36461282	36461282	Human		name
156170305	CV1867058	single nucleotide variant	NM_001146079.2(CLDN14):c.462C>A (p.Ser154Arg)	not provided [RCV002508610]	uncertain significance	21	36461234	36461234	Human		name
10042025	CV187221	single nucleotide variant	NM_001146079.2(CLDN14):c.694G>A (p.Gly232Arg)	Autosomal recessive nonsyndromic hearing loss 29 [RCV000169749]	pathogenic\|likely pathogenic\|not provided	21	36461002	36461002	Human	1	name
156155260	CV1896233	single nucleotide variant	NM_001146079.2(CLDN14):c.316C>T (p.Arg106Cys)	Inborn genetic diseases [RCV003250763]\|not provided [RCV003082690]	uncertain significance	21	36461380	36461380	Human	1	name
156020534	CV1915113	single nucleotide variant	NM_001146079.2(CLDN14):c.715G>A (p.Val239Met)	Inborn genetic diseases [RCV003161975]\|not provided [RCV002636687]	uncertain significance	21	36460981	36460981	Human	1	name
156208371	CV1959471	single nucleotide variant	NM_001146079.2(CLDN14):c.605C>T (p.Thr202Met)	not provided [RCV002575055]	uncertain significance	21	36461091	36461091	Human		name
156002079	CV1987877	single nucleotide variant	NM_001146079.2(CLDN14):c.512C>T (p.Ser171Leu)	not provided [RCV002618499]	uncertain significance	21	36461184	36461184	Human		name
8596597	CV19891	single nucleotide variant	NM_001146079.2(CLDN14):c.301G>A (p.Gly101Arg)	Autosomal recessive nonsyndromic hearing loss 29 [RCV000005125]\|not provided [RCV001762034]	pathogenic\|likely pathogenic\|uncertain significance	21	36461395	36461395	Human	1	name
156297716	CV2069736	single nucleotide variant	NM_001146079.2(CLDN14):c.343A>G (p.Thr115Ala)	not provided [RCV002833476]	uncertain significance	21	36461353	36461353	Human		name
156201887	CV2092534	single nucleotide variant	NM_001146079.2(CLDN14):c.653A>G (p.Lys218Arg)	not provided [RCV002917816]	uncertain significance	21	36461043	36461043	Human		name
156156211	CV2238397	single nucleotide variant	NM_001146079.2(CLDN14):c.403G>T (p.Ala135Ser)	Inborn genetic diseases [RCV002787201]	uncertain significance	21	36461293	36461293	Human	1	name
155995003	CV2249400	single nucleotide variant	NM_001185072.3(CLDN12):c.365T>A (p.Leu122Gln)	not specified [RCV004120191]	uncertain significance	7	90413041	90413041	Human		name
11090172	CV231117	single nucleotide variant	NM_001146079.2(CLDN14):c.559G>T (p.Asp187Tyr)	not provided [RCV002291596]\|not specified [RCV000215729]	uncertain significance	21	36461137	36461137	Human		name
11095655	CV231119	single nucleotide variant	NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val)	Autosomal recessive nonsyndromic hearing loss 29 [RCV000778641]\|not provided [RCV001575532]\|not specified [RCV000222605]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	21	36461208	36461208	Human	1	name
156064519	CV2349835	single nucleotide variant	NM_001146079.2(CLDN14):c.661C>G (p.Arg221Gly)	Inborn genetic diseases [RCV003000379]\|not provided [RCV005054444]	uncertain significance	21	36461035	36461035	Human	1	name
401720916	CV2702191	single nucleotide variant	NM_001146079.2(CLDN14):c.614C>T (p.Ala205Val)	Inborn genetic diseases [RCV003267404]	uncertain significance	21	36461082	36461082	Human	1	name
401780118	CV2725882	single nucleotide variant	NM_001146079.2(CLDN14):c.416C>T (p.Thr139Ile)	Inborn genetic diseases [RCV003287855]	uncertain significance	21	36461280	36461280	Human	1	name
401798125	CV2739222	single nucleotide variant	NM_001146079.2(CLDN14):c.397A>G (p.Met133Val)	Inborn genetic diseases [RCV005323411]\|not provided [RCV003318870]	uncertain significance	21	36461299	36461299	Human	1	name
401876568	CV2782965	single nucleotide variant	NM_001185072.3(CLDN12):c.535A>G (p.Ile179Val)	not specified [RCV004361759]	uncertain significance	7	90413211	90413211	Human		name
401961195	CV2844577	single nucleotide variant	NM_001146079.2(CLDN14):c.562G>A (p.Glu188Lys)	not provided [RCV003480373]	uncertain significance	21	36461134	36461134	Human		name
404996307	CV3172872	single nucleotide variant	NM_001146079.2(CLDN14):c.622G>A (p.Ala208Thr)	not provided [RCV003882154]	uncertain significance	21	36461074	36461074	Human		name
405685594	CV3306585	single nucleotide variant	NM_001185072.3(CLDN12):c.727A>G (p.Thr243Ala)	not specified [RCV004444302]	uncertain significance	7	90413403	90413403	Human		name
405685611	CV3306587	single nucleotide variant	NM_001146079.2(CLDN14):c.569C>T (p.Pro190Leu)	Inborn genetic diseases [RCV004444305]	uncertain significance	21	36461127	36461127	Human	1	name
405685617	CV3306588	single nucleotide variant	NM_001146079.2(CLDN14):c.580T>C (p.Tyr194His)	Inborn genetic diseases [RCV004444306]	uncertain significance	21	36461116	36461116	Human	1	name
405685624	CV3306589	single nucleotide variant	NM_001146079.2(CLDN14):c.646G>T (p.Ala216Ser)	Inborn genetic diseases [RCV004444307]	uncertain significance	21	36461050	36461050	Human	1	name
407462342	CV3419346	single nucleotide variant	NM_001146079.2(CLDN14):c.674T>C (p.Val225Ala)	Inborn genetic diseases [RCV004612881]\|not provided [RCV004767656]	likely benign\|uncertain significance	21	36461022	36461022	Human	1	name
407462345	CV3419347	single nucleotide variant	NM_001146079.2(CLDN14):c.323C>T (p.Ala108Val)	Inborn genetic diseases [RCV004612882]	uncertain significance	21	36461373	36461373	Human	1	name
407462348	CV3419348	single nucleotide variant	NM_001146079.2(CLDN14):c.481G>A (p.Gly161Ser)	Inborn genetic diseases [RCV004612883]	uncertain significance	21	36461215	36461215	Human	1	name
11655215	CV346422	single nucleotide variant	NM_001146079.2(CLDN14):c.378C>G (p.Ile126Met)	Autosomal recessive nonsyndromic hearing loss 29 [RCV000323958]	uncertain significance	21	36461318	36461318	Human	1	name
11626464	CV350644	single nucleotide variant	NM_001146079.2(CLDN14):c.587C>T (p.Ala196Val)	Autosomal recessive nonsyndromic hearing loss 29 [RCV000263703]\|not provided [RCV002523178]	uncertain significance	21	36461109	36461109	Human	1	name
11629254	CV350645	single nucleotide variant	NM_001146079.2(CLDN14):c.535A>G (p.Thr179Ala)	Autosomal recessive nonsyndromic hearing loss 29 [RCV000318936]	uncertain significance	21	36461161	36461161	Human	1	name
596939908	CV3550676	single nucleotide variant	NM_001146079.2(CLDN14):c.660T>A (p.Asn220Lys)	not provided [RCV004814576]	uncertain significance	21	36461036	36461036	Human		name
597782291	CV3660252	single nucleotide variant	NM_001185072.3(CLDN12):c.613C>T (p.Pro205Ser)	not specified [RCV004899983]	uncertain significance	7	90413289	90413289	Human		name
597631904	CV3660254	single nucleotide variant	NM_001146079.2(CLDN14):c.385G>A (p.Gly129Ser)	Inborn genetic diseases [RCV004967871]	uncertain significance	21	36461311	36461311	Human	1	name
597647179	CV3660255	single nucleotide variant	NM_001146079.2(CLDN14):c.299T>C (p.Ile100Thr)	Inborn genetic diseases [RCV004973954]	uncertain significance	21	36461397	36461397	Human	1	name
597713829	CV3733059	single nucleotide variant	NM_001146079.2(CLDN14):c.697T>C (p.Tyr233His)	not provided [RCV005052248]	uncertain significance	21	36460999	36460999	Human		name
598125867	CV3885957	single nucleotide variant	NM_001146079.2(CLDN14):c.441C>A (p.Phe147Leu)	not provided [RCV005241760]	uncertain significance	21	36461255	36461255	Human		name
598174885	CV3890938	single nucleotide variant	NM_001146079.2(CLDN14):c.565G>T (p.Ala189Ser)	not provided [RCV005251791]	uncertain significance	21	36461131	36461131	Human		name
598201969	CV3891255	microsatellite	NM_006984.5(CLDN10):c.644CAA[1] (p.Thr216del)	HELIX syndrome [RCV005255073]	uncertain significance	13	95577969	95577971	Human		name
598242741	CV3948434	single nucleotide variant	NM_001185072.3(CLDN12):c.621G>T (p.Trp207Cys)	not specified [RCV005321793]	uncertain significance	7	90413297	90413297	Human		name
12899075	CV410849	single nucleotide variant	NM_001146079.2(CLDN14):c.317G>A (p.Arg106His)	not provided [RCV000479370]	uncertain significance	21	36461379	36461379	Human		name
13483063	CV446315	single nucleotide variant	NM_001146079.2(CLDN14):c.314C>T (p.Thr105Met)	not provided [RCV000521959]	uncertain significance	21	36461382	36461382	Human		name
13530221	CV497530	single nucleotide variant	NM_001146079.2(CLDN14):c.337G>A (p.Ala113Thr)	not specified [RCV000600618]	uncertain significance	21	36461359	36461359	Human		name
13530369	CV497788	single nucleotide variant	NM_001146079.2(CLDN14):c.505A>G (p.Ile169Val)	not specified [RCV000600674]	likely benign	21	36461191	36461191	Human		name
28889629	CV886755	single nucleotide variant	NM_001146079.2(CLDN14):c.578C>T (p.Pro193Leu)	Autosomal recessive nonsyndromic hearing loss 29 [RCV001138770]	uncertain significance	21	36461118	36461118	Human	1	name
41405871	CV982228	single nucleotide variant	NM_001146079.2(CLDN14):c.430G>A (p.Val144Met)	Autosomal recessive nonsyndromic hearing loss 29 [RCV001287748]	uncertain significance	21	36461266	36461266	Human	1	name
597716462	CV3717439	duplication	NM_006580.4(CLDN16):c.608_663dup (p.Arg222Ter)	Primary hypomagnesemia [RCV005035301]	likely pathogenic	3	190409932	190409933	Human	1	name
597724811	CV3734544	deletion	NM_001146079.2(CLDN14):c.167_168del (p.Trp56fs)	Autosomal recessive nonsyndromic hearing loss 29 [RCV005053851]	pathogenic	21	36461528	36461529	Human	1	name
156022441	CV2141404	duplication	NM_001146079.2(CLDN14):c.548_588dup (p.Pro197fs)	not provided [RCV002976219]	pathogenic\|uncertain significance	21	36461107	36461108	Human		name
401946267	CV2839627	deletion	NM_001146079.2(CLDN14):c.116_118del (p.Asn39del)	Vein of Galen aneurysmal malformation [RCV003458966]	uncertain significance	21	36461578	36461580	Human	2	name
405706415	CV3225242	deletion	NM_001146079.2(CLDN14):c.639_645del (p.Ala215fs)	Autosomal recessive nonsyndromic hearing loss 29 [RCV003990296]	uncertain significance	21	36461051	36461057	Human	1	name
597724879	CV3734565	deletion	NM_001146079.2(CLDN14):c.355_361del (p.Ile119fs)	Autosomal recessive nonsyndromic hearing loss 29 [RCV005053872]	pathogenic	21	36461335	36461341	Human	1	name
40815559	CV970763	insertion	NM_006580.4(CLDN16):c.281_282insTGGT (p.Thr95fs)	Primary hypomagnesemia [RCV001263013]	uncertain significance	3	190404824	190404825	Human	1	name
402479861	CV3033238	deletion	NM_006580.4(CLDN16):c.39_50del (p.Phe14_Ala17del)	not provided [RCV003712723]	uncertain significance	3	190388365	190388376	Human		name
597751127	CV3709543	indel	NM_148960.3(CLDN19):c.178_182delinsCCC (p.Gly60fs)	Renal hypomagnesemia 5 with ocular involvement [RCV005015787]	likely pathogenic	1	42739882	42739886	Human		name
14978456	CV677351	deletion	NM_005602.6(CLDN11):c.93_104del (p.Val32_Gly35del)	Marfanoid habitus and intellectual disability [RCV000850417]	uncertain significance	3	170419159	170419170	Human	1	name
405126299	CV3132696	indel	NM_001146079.2(CLDN14):c.242_243delinsAT (p.Arg81His)	not provided [RCV003837859]	likely pathogenic	21	36461453	36461454	Human		name
597751789	CV3709573	deletion	NM_148960.3(CLDN19):c.140_141del (p.Leu46_Tyr47insTer)	Renal hypomagnesemia 5 with ocular involvement [RCV005015810]	likely pathogenic	1	42739923	42739924	Human	1	name
13674157	CV536195	duplication	NM_006580.4(CLDN16):c.335_338dup (p.Lys113delinsAsnTer)	Primary hypomagnesemia [RCV000656737]	pathogenic\|likely pathogenic	3	190404877	190404878	Human	1	name
597721021	CV3733625	deletion	NM_001146079.2(CLDN14):c.554_556del (p.Cys185_Gln186delinsTer)	Autosomal recessive nonsyndromic hearing loss 29 [RCV005052930]	pathogenic	21	36461140	36461142	Human	1	name
126909472	CV972474	insertion	NM_001146079.2(CLDN14):c.40_41insTGGTGCACGGCCGTGCA (p.Ser14fs)	Sensorineural hearing loss disorder [RCV001353201]	pathogenic	21	36461655	36461656	Human	2	name

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