Cldn1 Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)

845 records found for search term Cldn1

Refine Term:

Assembly:

Chr

Sort By:

Export

CSV

TAB

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

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message