Foxi1 Variant Search Result - Rat Genome Database

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935 records found for search term Foxi1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11585721	CV298748	single nucleotide variant	NM_012188.5(FOXI1):c.-18G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV000282844]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV002502359]	uncertain significance	5	170105940	170105940	Human	2	name , alternate_id
28891316	CV893866	single nucleotide variant	NM_012188.5(FOXI1):c.*74G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV001152747]	uncertain significance	5	170108685	170108685	Human	1	name , alternate_id
11596878	CV296823	single nucleotide variant	NM_012188.5(FOXI1):c.*176G>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV000387339]\|not provided [RCV001753825]	likely benign\|uncertain significance	5	170108787	170108787	Human	1	name , alternate_id
11591698	CV296825	duplication	NM_012188.5(FOXI1):c.*938dup	Nonsyndromic Hearing Loss, Mixed [RCV000331612]	likely benign	5	170109541	170109542	Human	1	name
11593257	CV298785	single nucleotide variant	NM_012188.5(FOXI1):c.*440G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV000346990]	benign	5	170109051	170109051	Human	1	name , alternate_id
11659384	CV298790	single nucleotide variant	NM_012188.5(FOXI1):c.*707C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV000357219]	uncertain significance	5	170109318	170109318	Human	1	name , alternate_id
11595793	CV302975	single nucleotide variant	NM_012188.5(FOXI1):c.*119C>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV000374423]\|not provided [RCV001613169]	benign\|likely benign	5	170108730	170108730	Human	1	name , alternate_id
11650822	CV302985	single nucleotide variant	NM_012188.5(FOXI1):c.*397A>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV000295397]	uncertain significance	5	170109008	170109008	Human	1	name , alternate_id
11651874	CV302988	single nucleotide variant	NM_012188.5(FOXI1):c.*486C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV000301603]	uncertain significance	5	170109097	170109097	Human	1	name , alternate_id
11661984	CV303135	single nucleotide variant	NM_012188.5(FOXI1):c.*418T>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV000381803]	uncertain significance	5	170109029	170109029	Human	1	name , alternate_id
11588856	CV303136	single nucleotide variant	NM_012188.5(FOXI1):c.*535A>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV000306093]	benign\|likely benign	5	170109146	170109146	Human	1	name , alternate_id
11582656	CV303137	single nucleotide variant	NM_012188.5(FOXI1):c.*576T>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV000261246]	uncertain significance	5	170109187	170109187	Human	1	name , alternate_id
11596973	CV303144	single nucleotide variant	NM_012188.5(FOXI1):c.*986G>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV000388431]	uncertain significance	5	170109597	170109597	Human	1	name , alternate_id
28891319	CV893867	single nucleotide variant	NM_012188.5(FOXI1):c.*143A>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV001152748]\|not provided [RCV001692357]	benign\|likely benign	5	170108754	170108754	Human	1	name , alternate_id
28891326	CV893868	single nucleotide variant	NM_012188.5(FOXI1):c.*248G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV001152749]	uncertain significance	5	170108859	170108859	Human	1	name , alternate_id
28891330	CV893869	single nucleotide variant	NM_012188.5(FOXI1):c.*285A>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV001152750]	uncertain significance	5	170108896	170108896	Human	1	name , alternate_id
28891332	CV893870	single nucleotide variant	NM_012188.5(FOXI1):c.*331G>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV001152751]\|not provided [RCV004706037]	likely benign	5	170108942	170108942	Human	1	name , alternate_id
28894790	CV893871	single nucleotide variant	NM_012188.5(FOXI1):c.*556A>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV001154028]	likely benign	5	170109167	170109167	Human	1	name , alternate_id
28896988	CV893872	single nucleotide variant	NM_012188.5(FOXI1):c.*679C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV001154868]	uncertain significance	5	170109290	170109290	Human	1	name , alternate_id
28896991	CV893873	single nucleotide variant	NM_012188.5(FOXI1):c.*815C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV001154869]	uncertain significance	5	170109426	170109426	Human	1	name , alternate_id
28896993	CV893874	single nucleotide variant	NM_012188.5(FOXI1):c.*840G>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV001154870]	uncertain significance	5	170109451	170109451	Human	1	name , alternate_id
28896997	CV893875	single nucleotide variant	NM_012188.5(FOXI1):c.*924C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV001154871]\|not provided [RCV004707558]	likely benign	5	170109535	170109535	Human	1	name , alternate_id
156310881	CV2107444	single nucleotide variant	NM_012188.5(FOXI1):c.575-5A>G	not provided [RCV002937155]	likely benign	5	170108044	170108044	Human		name
28897001	CV893876	single nucleotide variant	NM_012188.5(FOXI1):c.*1094T>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV001154872]	uncertain significance	5	170109705	170109705	Human	1	name , alternate_id
150476193	CV1271299	single nucleotide variant	NM_012188.5(FOXI1):c.575-59G>A	not provided [RCV001696122]	benign	5	170107990	170107990	Human		name
150441606	CV1287593	single nucleotide variant	NM_012188.5(FOXI1):c.574+71T>C	not provided [RCV001725313]	benign	5	170106602	170106602	Human		name
405051250	CV3150973	single nucleotide variant	NM_012188.5(FOXI1):c.575-19C>T	not provided [RCV003849577]	likely benign	5	170108030	170108030	Human		name
405199188	CV3164549	single nucleotide variant	NM_012188.5(FOXI1):c.574+20G>A	not provided [RCV003860606]	likely benign	5	170106551	170106551	Human		name
150517024	CV1227463	single nucleotide variant	NM_012188.5(FOXI1):c.574+254C>G	not provided [RCV001639564]	benign	5	170106785	170106785	Human		name
150543556	CV1309031	single nucleotide variant	NM_012188.5(FOXI1):c.574+155G>T	not provided [RCV001769944]	likely benign	5	170106686	170106686	Human		name
155954457	CV1896690	single nucleotide variant	NM_012188.5(FOXI1):c.9C>A (p.Ser3=)	not provided [RCV003095507]	likely benign	5	170105966	170105966	Human		name
156449834	CV1942108	single nucleotide variant	NM_012188.5(FOXI1):c.78C>T (p.Pro26=)	FOXI1-related disorder [RCV003954051]\|not provided [RCV003121962]	likely benign	5	170106035	170106035	Human	1	name , trait , alternate_id
11585171	CV303131	single nucleotide variant	NM_012188.5(FOXI1):c.30C>T (p.Ser10=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000278973]\|FOXI1-related disorder [RCV003922554]\|not provided [RCV001753824]	benign\|likely benign\|uncertain significance	5	170105987	170105987	Human	1	name , trait , alternate_id
405747773	CV3254005	single nucleotide variant	NM_012188.5(FOXI1):c.8C>T (p.Ser3Phe)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005038653]\|not specified [RCV004392270]	uncertain significance	5	170105965	170105965	Human	1	name , alternate_id
28891054	CV893858	single nucleotide variant	NM_012188.5(FOXI1):c.63C>T (p.Ile21=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001152643]\|not provided [RCV005093655]	likely benign\|uncertain significance	5	170106020	170106020	Human	1	name , alternate_id
152032503	CV1549029	single nucleotide variant	NM_012188.5(FOXI1):c.141C>G (p.Pro47=)	not provided [RCV002086592]	likely benign	5	170106098	170106098	Human		name
152031065	CV1593364	single nucleotide variant	NM_012188.5(FOXI1):c.231C>G (p.Pro77=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002500147]\|not provided [RCV002106071]	likely benign	5	170106188	170106188	Human	2	name , alternate_id
156364739	CV1897252	single nucleotide variant	NM_012188.5(FOXI1):c.177C>G (p.Pro59=)	not provided [RCV002581980]	likely benign	5	170106134	170106134	Human		name
156194046	CV1900486	single nucleotide variant	NM_012188.5(FOXI1):c.201G>A (p.Gly67=)	not provided [RCV002574507]	likely benign	5	170106158	170106158	Human		name
156273964	CV1957315	single nucleotide variant	NM_012188.5(FOXI1):c.159C>T (p.Gly53=)	not provided [RCV002577259]	uncertain significance	5	170106116	170106116	Human		name
155940017	CV2157920	single nucleotide variant	NM_012188.5(FOXI1):c.11T>A (p.Phe4Tyr)	not provided [RCV003014202]	uncertain significance	5	170105968	170105968	Human		name
402505771	CV2880612	single nucleotide variant	NM_012188.5(FOXI1):c.240C>T (p.Asn80=)	not provided [RCV003546347]	likely benign	5	170106197	170106197	Human		name
11597751	CV298759	single nucleotide variant	NM_012188.5(FOXI1):c.279G>A (p.Arg93=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000397325]\|not provided [RCV001643069]\|not specified [RCV001528468]	benign\|likely benign	5	170106236	170106236	Human	1	name , alternate_id
405184967	CV3061912	single nucleotide variant	NM_012188.5(FOXI1):c.234C>T (p.Gly78=)	FOXI1-related disorder [RCV003919350]\|not provided [RCV003729175]	likely benign	5	170106191	170106191	Human	1	name , trait , alternate_id
405133997	CV3115541	single nucleotide variant	NM_012188.5(FOXI1):c.225C>T (p.Tyr75=)	not provided [RCV003816198]	likely benign	5	170106182	170106182	Human		name
597726274	CV3673171	single nucleotide variant	NM_012188.5(FOXI1):c.13G>T (p.Asp5Tyr)	not specified [RCV004919314]	uncertain significance	5	170105970	170105970	Human		name
597664646	CV3725061	single nucleotide variant	NM_012188.5(FOXI1):c.19C>A (p.Pro7Thr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005043196]	uncertain significance	5	170105976	170105976	Human	1	name , alternate_id
597931454	CV3789473	single nucleotide variant	NM_012188.5(FOXI1):c.136C>A (p.Arg46=)	not provided [RCV005131754]	likely benign	5	170106093	170106093	Human		name
126744293	CV1016544	deletion	NM_012188.5(FOXI1):c.155del (p.Gly52fs)	Deafness, autosomal recessive 4, with enlarged vestibular aqueduct [RCV001330407]	pathogenic	5	170106107	170106107	Human		name , alternate_id
126910523	CV1053233	single nucleotide variant	NM_012188.5(FOXI1):c.92A>G (p.Tyr31Cys)	Hearing impairment [RCV001375208]	likely pathogenic\|uncertain significance	5	170106049	170106049	Human	2	name
151776076	CV1398902	single nucleotide variant	NM_012188.5(FOXI1):c.77C>G (p.Pro26Arg)	not provided [RCV001929987]	uncertain significance	5	170106034	170106034	Human		name
152168046	CV1547862	single nucleotide variant	NM_012188.5(FOXI1):c.717G>A (p.Pro239=)	not provided [RCV002161013]	likely benign	5	170108191	170108191	Human		name
152029514	CV1655910	single nucleotide variant	NM_012188.5(FOXI1):c.372A>G (p.Pro124=)	not provided [RCV002186191]	likely benign	5	170106329	170106329	Human		name
156136875	CV1902066	single nucleotide variant	NM_012188.5(FOXI1):c.77C>A (p.Pro26His)	not provided [RCV003082048]\|not specified [RCV004073102]	uncertain significance	5	170106034	170106034	Human		name
156307122	CV1912644	single nucleotide variant	NM_012188.5(FOXI1):c.903A>G (p.Thr301=)	not provided [RCV002599454]	likely benign	5	170108377	170108377	Human		name
10048170	CV192437	single nucleotide variant	NM_012188.5(FOXI1):c.726C>T (p.Ser242=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001153928]\|FOXI1-related disorder [RCV003977433]\|not provided [RCV000959611]\|not specified [RCV000175838]	benign\|likely benign\|uncertain significance	5	170108200	170108200	Human	1	name , trait , alternate_id
156448420	CV1950698	single nucleotide variant	NM_012188.5(FOXI1):c.573G>A (p.Pro191=)	not provided [RCV003119982]	uncertain significance	5	170106530	170106530	Human		name
156245623	CV1969529	single nucleotide variant	NM_012188.5(FOXI1):c.72G>T (p.Glu24Asp)	not provided [RCV002597298]	uncertain significance	5	170106029	170106029	Human		name
156393919	CV2019383	single nucleotide variant	NM_012188.5(FOXI1):c.621C>T (p.Phe207=)	not provided [RCV002725336]	likely benign	5	170108095	170108095	Human		name
156214108	CV2114674	single nucleotide variant	NM_012188.5(FOXI1):c.870C>T (p.Ser290=)	FOXI1-related disorder [RCV003963417]\|not provided [RCV002932187]	likely benign	5	170108344	170108344	Human	1	name , trait , alternate_id
156230048	CV2115557	single nucleotide variant	NM_012188.5(FOXI1):c.558C>A (p.Arg186=)	FOXI1-related disorder [RCV003926531]\|not provided [RCV002932793]	benign	5	170106515	170106515	Human	1	name , trait , alternate_id
155917460	CV2362304	single nucleotide variant	NM_012188.5(FOXI1):c.43A>C (p.Ser15Arg)	not specified [RCV004212940]	uncertain significance	5	170106000	170106000	Human		name
243053472	CV2410198	single nucleotide variant	NM_012188.5(FOXI1):c.80A>C (p.Glu27Ala)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003144084]\|not provided [RCV005099406]\|not specified [RCV005335742]	uncertain significance	5	170106037	170106037	Human	1	name , alternate_id
11581484	CV269636	single nucleotide variant	NM_012188.5(FOXI1):c.825C>T (p.Ala275=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000371853]\|not provided [RCV000328867]	conflicting interpretations of pathogenicity\|uncertain significance	5	170108299	170108299	Human	1	name , alternate_id
405208389	CV2909217	single nucleotide variant	NM_012188.5(FOXI1):c.528G>C (p.Ser176=)	not provided [RCV003566782]	likely benign	5	170106485	170106485	Human		name
402501987	CV2943820	single nucleotide variant	NM_012188.5(FOXI1):c.885G>C (p.Thr295=)	not provided [RCV003661706]	likely benign	5	170108359	170108359	Human		name
11635375	CV298764	single nucleotide variant	NM_012188.5(FOXI1):c.861C>G (p.Ala287=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000336670]\|not provided [RCV001861252]	likely benign\|uncertain significance	5	170108335	170108335	Human	1	name , alternate_id
11589993	CV298781	single nucleotide variant	NM_012188.5(FOXI1):c.972G>C (p.Pro324=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000314796]\|not provided [RCV000711713]	benign\|uncertain significance	5	170108446	170108446	Human	1	name , alternate_id
11596038	CV303132	single nucleotide variant	NM_012188.5(FOXI1):c.822C>T (p.Gly274=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000377507]\|FOXI1-related disorder [RCV003932448]\|not provided [RCV000883148]	benign\|likely benign\|uncertain significance	5	170108296	170108296	Human	1	name , trait , alternate_id
405156360	CV3064745	single nucleotide variant	NM_012188.5(FOXI1):c.309G>C (p.Gly103=)	not provided [RCV003726687]	likely benign	5	170106266	170106266	Human		name
405253301	CV3178256	single nucleotide variant	NM_012188.5(FOXI1):c.396C>T (p.Ile132=)	not provided [RCV003871037]	likely benign	5	170106353	170106353	Human		name
405258707	CV3215087	single nucleotide variant	NM_012188.5(FOXI1):c.936G>A (p.Thr312=)	FOXI1-related disorder [RCV003942149]\|not provided [RCV005101820]	likely benign	5	170108410	170108410	Human	1	name , trait , alternate_id
597718236	CV3725062	single nucleotide variant	NM_012188.5(FOXI1):c.35C>T (p.Pro12Leu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005035398]	uncertain significance	5	170105992	170105992	Human	1	name , alternate_id
597717374	CV3725074	single nucleotide variant	NM_012188.5(FOXI1):c.367C>A (p.Arg123=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005035408]\|not provided [RCV005112876]	likely benign\|uncertain significance	5	170106324	170106324	Human	1	name , alternate_id
597664691	CV3725076	single nucleotide variant	NM_012188.5(FOXI1):c.489C>T (p.Ser163=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005043201]	uncertain significance	5	170106446	170106446	Human	1	name , alternate_id
597664714	CV3725081	single nucleotide variant	NM_012188.5(FOXI1):c.717G>T (p.Pro239=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005043204]	uncertain significance	5	170108191	170108191	Human	1	name , alternate_id
597717437	CV3725085	single nucleotide variant	NM_012188.5(FOXI1):c.762A>G (p.Gly254=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005035414]	uncertain significance	5	170108236	170108236	Human	1	name , alternate_id
597865398	CV3742317	single nucleotide variant	NM_012188.5(FOXI1):c.996C>T (p.Ser332=)	not provided [RCV005067933]	likely benign	5	170108470	170108470	Human		name
597843520	CV3752515	single nucleotide variant	NM_012188.5(FOXI1):c.972G>A (p.Pro324=)	not provided [RCV005086921]	likely benign	5	170108446	170108446	Human		name
597948789	CV3818402	single nucleotide variant	NM_012188.5(FOXI1):c.528G>T (p.Ser176=)	not provided [RCV005160663]	likely benign	5	170106485	170106485	Human		name
15182270	CV735001	single nucleotide variant	NM_012188.5(FOXI1):c.468C>T (p.Asn156=)	not provided [RCV000907782]	likely benign	5	170106425	170106425	Human		name
15201171	CV749419	single nucleotide variant	NM_012188.5(FOXI1):c.528G>A (p.Ser176=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001153925]\|FOXI1-related disorder [RCV003933010]\|not provided [RCV000913061]	likely benign\|uncertain significance	5	170106485	170106485	Human	1	name , trait , alternate_id
15139781	CV782246	single nucleotide variant	NM_012188.5(FOXI1):c.462C>G (p.Ala154=)	not provided [RCV000982697]	likely benign	5	170106419	170106419	Human		name
8631545	CV86749	single nucleotide variant	NM_012188.4(FOXI1):c.37C>T (p.Arg13Cys)	Malignant melanoma [RCV000066840]	not provided	5	170105994	170105994	Human		name
151844249	CV1414749	single nucleotide variant	NM_012188.5(FOXI1):c.232G>A (p.Gly78Ser)	not provided [RCV001903223]\|not specified [RCV004917740]	uncertain significance	5	170106189	170106189	Human		name
151817388	CV1435879	single nucleotide variant	NM_012188.5(FOXI1):c.143C>T (p.Ser48Phe)	not provided [RCV001975391]	uncertain significance	5	170106100	170106100	Human		name
156370968	CV1920237	single nucleotide variant	NM_012188.5(FOXI1):c.248C>T (p.Pro83Leu)	not provided [RCV002603172]	uncertain significance	5	170106205	170106205	Human		name
156040598	CV1999000	single nucleotide variant	NM_012188.5(FOXI1):c.1038C>T (p.Leu346=)	not provided [RCV002659020]	likely benign	5	170108512	170108512	Human		name
156023202	CV2025540	single nucleotide variant	NM_012188.5(FOXI1):c.1059C>T (p.Leu353=)	not provided [RCV002735473]	likely benign	5	170108533	170108533	Human		name
156008908	CV2038833	single nucleotide variant	NM_012188.5(FOXI1):c.200G>A (p.Gly67Glu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005034414]\|not provided [RCV002794990]	uncertain significance	5	170106157	170106157	Human	1	name , alternate_id
156281514	CV2042865	single nucleotide variant	NM_012188.5(FOXI1):c.1029C>T (p.Thr343=)	not provided [RCV002770403]	likely benign	5	170108503	170108503	Human		name
11548394	CV251840	single nucleotide variant	NM_012188.5(FOXI1):c.1044T>C (p.Tyr348=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000304739]\|not provided [RCV001651199]\|not specified [RCV000249027]	benign	5	170108518	170108518	Human	5	name , alternate_id
11548394	CV251840	single nucleotide variant	NM_012188.5(FOXI1):c.1044T>C (p.Tyr348=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000304739]\|not provided [RCV001651199]\|not specified [RCV000249027]	benign	5	170108518	170108519	Human	5	name , alternate_id
405252350	CV3047173	single nucleotide variant	NM_012188.5(FOXI1):c.202C>T (p.Pro68Ser)	not provided [RCV003722179]	uncertain significance	5	170106159	170106159	Human		name
405290027	CV3205765	single nucleotide variant	NM_012188.5(FOXI1):c.1113C>T (p.Tyr371=)	FOXI1-related disorder [RCV003962091]	likely benign	5	170108587	170108587	Human		name , trait , alternate_id
405747736	CV3253999	single nucleotide variant	NM_012188.5(FOXI1):c.245G>A (p.Ser82Asn)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005038652]\|not specified [RCV004392264]	uncertain significance	5	170106202	170106202	Human	1	name , alternate_id
405747742	CV3254000	single nucleotide variant	NM_012188.5(FOXI1):c.269G>T (p.Gly90Val)	not specified [RCV004392265]	uncertain significance	5	170106226	170106226	Human		name
407494011	CV3432690	single nucleotide variant	NM_012188.5(FOXI1):c.198C>A (p.Asn66Lys)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005038747]\|not specified [RCV004621210]	uncertain significance	5	170106155	170106155	Human	1	name , alternate_id
597726281	CV3673172	single nucleotide variant	NM_012188.5(FOXI1):c.151G>A (p.Gly51Arg)	not specified [RCV004919315]	uncertain significance	5	170106108	170106108	Human		name
597726307	CV3673175	single nucleotide variant	NM_012188.5(FOXI1):c.236C>G (p.Pro79Arg)	not specified [RCV004919318]	uncertain significance	5	170106193	170106193	Human		name
597726323	CV3673177	single nucleotide variant	NM_012188.5(FOXI1):c.187C>T (p.Leu63Phe)	not specified [RCV004919320]	uncertain significance	5	170106144	170106144	Human		name
597718227	CV3725063	single nucleotide variant	NM_012188.5(FOXI1):c.121G>A (p.Val41Met)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005035399]	uncertain significance	5	170106078	170106078	Human	1	name , alternate_id
597664654	CV3725064	single nucleotide variant	NM_012188.5(FOXI1):c.150G>T (p.Glu50Asp)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005043197]	uncertain significance	5	170106107	170106107	Human	1	name , alternate_id
597718216	CV3725065	single nucleotide variant	NM_012188.5(FOXI1):c.151G>C (p.Gly51Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005035400]	uncertain significance	5	170106108	170106108	Human	1	name , alternate_id
597664664	CV3725066	single nucleotide variant	NM_012188.5(FOXI1):c.224A>G (p.Tyr75Cys)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005043198]	uncertain significance	5	170106181	170106181	Human	1	name , alternate_id
597717631	CV3725067	single nucleotide variant	NM_012188.5(FOXI1):c.232G>C (p.Gly78Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005035402]	uncertain significance	5	170106189	170106189	Human	1	name , alternate_id
597717387	CV3725069	single nucleotide variant	NM_012188.5(FOXI1):c.235C>G (p.Pro79Ala)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005035404]	uncertain significance	5	170106192	170106192	Human	1	name , alternate_id
597717349	CV3725070	single nucleotide variant	NM_012188.5(FOXI1):c.235C>T (p.Pro79Ser)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005035405]	uncertain significance	5	170106192	170106192	Human	1	name , alternate_id
15199005	CV699014	single nucleotide variant	NM_012188.5(FOXI1):c.131C>T (p.Pro44Leu)	FOXI1-related disorder [RCV003926053]\|not provided [RCV000956919]	likely benign	5	170106088	170106088	Human	1	name , trait , alternate_id
15157518	CV699015	single nucleotide variant	NM_012188.5(FOXI1):c.1014G>A (p.Ala338=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001158230]\|FOXI1-related disorder [RCV003913217]\|not provided [RCV000946898]\|not specified [RCV001796824]	benign\|likely benign	5	170108488	170108488	Human	1	name , trait , alternate_id
15138498	CV735002	single nucleotide variant	NM_012188.5(FOXI1):c.1128C>T (p.Thr376=)	not provided [RCV000898992]	likely benign	5	170108602	170108602	Human		name
28891059	CV893859	single nucleotide variant	NM_012188.5(FOXI1):c.161A>G (p.Glu54Gly)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001152644]	uncertain significance	5	170106118	170106118	Human	1	name , alternate_id
28891063	CV893860	single nucleotide variant	NM_012188.5(FOXI1):c.269G>A (p.Gly90Glu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001152645]	uncertain significance	5	170106226	170106226	Human	1	name , alternate_id
126910551	CV1053234	single nucleotide variant	NM_012188.5(FOXI1):c.307G>T (p.Gly103Trp)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002493908]\|Hearing impairment [RCV001375227]	uncertain significance	5	170106264	170106264	Human	4	name , alternate_id
151808263	CV1362732	single nucleotide variant	NM_012188.5(FOXI1):c.331C>T (p.Pro111Ser)	not provided [RCV001991577]	uncertain significance	5	170106288	170106288	Human		name
151863223	CV1365223	single nucleotide variant	NM_012188.5(FOXI1):c.799C>T (p.Arg267Trp)	not provided [RCV002018026]	uncertain significance	5	170108273	170108273	Human		name
151775970	CV1398878	single nucleotide variant	NM_012188.5(FOXI1):c.562G>A (p.Glu188Lys)	not provided [RCV001929980]	uncertain significance	5	170106519	170106519	Human		name
151857364	CV1408068	single nucleotide variant	NM_012188.5(FOXI1):c.638G>A (p.Arg213His)	not provided [RCV001883489]	uncertain significance	5	170108112	170108112	Human		name
151806761	CV1426282	single nucleotide variant	NM_012188.5(FOXI1):c.845T>C (p.Leu282Pro)	not provided [RCV001974406]	uncertain significance	5	170108319	170108319	Human		name
151716329	CV1442011	single nucleotide variant	NM_012188.5(FOXI1):c.716C>T (p.Pro239Leu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005042642]\|not provided [RCV002002983]	uncertain significance	5	170108190	170108190	Human	1	name , alternate_id
151760635	CV1496210	single nucleotide variant	NM_012188.5(FOXI1):c.763G>A (p.Ala255Thr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002490104]\|not provided [RCV001895268]\|not specified [RCV004041224]	uncertain significance	5	170108237	170108237	Human	2	name , alternate_id
152156514	CV1629738	single nucleotide variant	NM_012188.5(FOXI1):c.823G>A (p.Ala275Thr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002486821]\|FOXI1-related disorder [RCV003911260]\|not provided [RCV002202732]	likely benign	5	170108297	170108297	Human	2	name , trait , alternate_id
156288577	CV1897171	single nucleotide variant	NM_012188.5(FOXI1):c.908G>A (p.Gly303Glu)	not provided [RCV002598657]	uncertain significance	5	170108382	170108382	Human		name
156435895	CV1937225	single nucleotide variant	NM_012188.5(FOXI1):c.671C>T (p.Ser224Phe)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005047409]\|not provided [RCV003105087]	uncertain significance	5	170108145	170108145	Human	1	name , alternate_id
156199341	CV2014679	single nucleotide variant	NM_012188.5(FOXI1):c.946T>C (p.Ser316Pro)	not provided [RCV002700224]	uncertain significance	5	170108420	170108420	Human		name
156008544	CV2054465	single nucleotide variant	NM_012188.5(FOXI1):c.784A>G (p.Ser262Gly)	not provided [RCV002819998]	uncertain significance	5	170108258	170108258	Human		name
156085840	CV2080041	single nucleotide variant	NM_012188.5(FOXI1):c.527C>T (p.Ser176Leu)	not provided [RCV002847542]	uncertain significance	5	170106484	170106484	Human		name
156020753	CV2110992	single nucleotide variant	NM_012188.5(FOXI1):c.776G>A (p.Gly259Asp)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005034475]\|not provided [RCV002909600]	uncertain significance	5	170108250	170108250	Human	1	name , alternate_id
156229218	CV2115520	single nucleotide variant	NM_012188.5(FOXI1):c.887G>T (p.Ser296Ile)	not provided [RCV002932761]\|not specified [RCV004617114]	uncertain significance	5	170108361	170108361	Human		name
156042142	CV2117883	single nucleotide variant	NM_012188.5(FOXI1):c.926G>A (p.Ser309Asn)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005034512]\|not provided [RCV002923957]	uncertain significance	5	170108400	170108400	Human	1	name , alternate_id
156142472	CV2125946	single nucleotide variant	NM_012188.5(FOXI1):c.971C>T (p.Pro324Leu)	not provided [RCV002954280]	uncertain significance	5	170108445	170108445	Human		name
155928199	CV2145274	single nucleotide variant	NM_012188.5(FOXI1):c.793G>T (p.Glu265Ter)	not provided [RCV003013508]	uncertain significance	5	170108267	170108267	Human		name
156337684	CV2168566	single nucleotide variant	NM_012188.5(FOXI1):c.802C>T (p.Pro268Ser)	not provided [RCV003030110]	uncertain significance	5	170108276	170108276	Human		name
156099699	CV2179957	single nucleotide variant	NM_012188.5(FOXI1):c.557G>A (p.Arg186His)	not provided [RCV003054677]	uncertain significance	5	170106514	170106514	Human		name
155952328	CV2238937	single nucleotide variant	NM_012188.5(FOXI1):c.734C>A (p.Thr245Asn)	not specified [RCV004109838]	uncertain significance	5	170108208	170108208	Human		name
156042297	CV2310961	single nucleotide variant	NM_012188.5(FOXI1):c.472C>A (p.Pro158Thr)	not specified [RCV004163994]	uncertain significance	5	170106429	170106429	Human		name
156002659	CV2347712	single nucleotide variant	NM_012188.5(FOXI1):c.884C>T (p.Thr295Met)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005047369]\|not specified [RCV004200637]	uncertain significance	5	170108358	170108358	Human	1	name , alternate_id
8560500	CV23488	single nucleotide variant	NM_012188.5(FOXI1):c.773G>A (p.Gly258Glu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000008964]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV002490341]\|not provided [RCV000729912]	pathogenic\|uncertain significance	5	170108247	170108247	Human	2	name , alternate_id
8560501	CV23489	single nucleotide variant	NM_012188.5(FOXI1):c.800G>A (p.Arg267Gln)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000008965]\|Pendred syndrome [RCV000008966]	pathogenic\|uncertain significance	5	170108274	170108274	Human	2	name , alternate_id
156058405	CV2383423	single nucleotide variant	NM_012188.5(FOXI1):c.421G>C (p.Asp141His)	not specified [RCV004222445]	uncertain significance	5	170106378	170106378	Human		name
11526007	CV246982	single nucleotide variant	NM_012188.5(FOXI1):c.346G>A (p.Glu116Lys)	not specified [RCV000239144]	uncertain significance	5	170106303	170106303	Human		name
11636327	CV270331	single nucleotide variant	NM_012188.5(FOXI1):c.902C>T (p.Thr301Ile)	not provided [RCV000265573]	uncertain significance	5	170108376	170108376	Human		name
11579708	CV270984	single nucleotide variant	NM_012188.5(FOXI1):c.997G>A (p.Gly333Ser)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000310563]\|not provided [RCV000373663]	uncertain significance	5	170108471	170108471	Human	1	name , alternate_id
11577893	CV274298	single nucleotide variant	NM_012188.5(FOXI1):c.442C>G (p.Gln148Glu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000269314]\|FOXI1-related disorder [RCV004757986]\|not provided [RCV000335900]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	170106399	170106399	Human	1	name , trait , alternate_id
401877413	CV2769446	single nucleotide variant	NM_012188.5(FOXI1):c.968C>A (p.Ser323Tyr)	not specified [RCV004357424]	uncertain significance	5	170108442	170108442	Human		name
11595185	CV296819	single nucleotide variant	NM_012188.5(FOXI1):c.308G>C (p.Gly103Ala)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000367498]\|FOXI1-related disorder [RCV003912503]\|not provided [RCV000442615]	benign\|likely benign\|uncertain significance	5	170106265	170106265	Human	1	name , trait , alternate_id
11597837	CV298761	single nucleotide variant	NM_012188.5(FOXI1):c.318C>G (p.Asp106Glu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000398506]\|FOXI1-related disorder [RCV003922555]\|not provided [RCV000966978]	benign\|uncertain significance	5	170106275	170106275	Human	1	name , trait , alternate_id
11660203	CV298762	single nucleotide variant	NM_012188.5(FOXI1):c.568G>C (p.Asp190His)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000364853]\|not provided [RCV002520353]	uncertain significance	5	170106525	170106525	Human	1	name , alternate_id
11650365	CV298766	single nucleotide variant	NM_012188.5(FOXI1):c.938G>A (p.Gly313Glu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000292214]	uncertain significance	5	170108412	170108412	Human	1	name , alternate_id
405747748	CV3254001	single nucleotide variant	NM_012188.5(FOXI1):c.425A>G (p.Lys142Arg)	not specified [RCV004392266]	uncertain significance	5	170106382	170106382	Human		name
405747754	CV3254002	single nucleotide variant	NM_012188.5(FOXI1):c.544A>C (p.Lys182Gln)	not specified [RCV004392267]	uncertain significance	5	170106501	170106501	Human		name
405747760	CV3254003	single nucleotide variant	NM_012188.5(FOXI1):c.646A>G (p.Arg216Gly)	not specified [RCV004392268]	uncertain significance	5	170108120	170108120	Human		name
405747767	CV3254004	single nucleotide variant	NM_012188.5(FOXI1):c.683C>T (p.Ser228Phe)	not specified [RCV004392269]	uncertain significance	5	170108157	170108157	Human		name
407427555	CV3410726	single nucleotide variant	NM_012188.5(FOXI1):c.565G>A (p.Asp189Asn)	not specified [RCV004586373]	uncertain significance	5	170106522	170106522	Human		name
407494015	CV3432691	single nucleotide variant	NM_012188.5(FOXI1):c.917C>G (p.Pro306Arg)	not specified [RCV004621211]	uncertain significance	5	170108391	170108391	Human		name
597726289	CV3673173	single nucleotide variant	NM_012188.5(FOXI1):c.844C>A (p.Leu282Ile)	not specified [RCV004919316]	uncertain significance	5	170108318	170108318	Human		name
597726298	CV3673174	single nucleotide variant	NM_012188.5(FOXI1):c.722A>T (p.Asp241Val)	not specified [RCV004919317]	uncertain significance	5	170108196	170108196	Human		name
597717359	CV3725071	single nucleotide variant	NM_012188.5(FOXI1):c.307G>A (p.Gly103Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005035406]	uncertain significance	5	170106264	170106264	Human	1	name , alternate_id
597664673	CV3725072	single nucleotide variant	NM_012188.5(FOXI1):c.338C>T (p.Pro113Leu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005043199]	uncertain significance	5	170106295	170106295	Human	1	name , alternate_id
597717367	CV3725073	single nucleotide variant	NM_012188.5(FOXI1):c.349G>A (p.Glu117Lys)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005035407]	uncertain significance	5	170106306	170106306	Human	1	name , alternate_id
597718427	CV3725075	single nucleotide variant	NM_012188.5(FOXI1):c.412G>C (p.Gly138Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005035409]	uncertain significance	5	170106369	170106369	Human	1	name , alternate_id
597664698	CV3725077	single nucleotide variant	NM_012188.5(FOXI1):c.493G>A (p.Ala165Thr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005043202]	uncertain significance	5	170106450	170106450	Human	1	name , alternate_id
597717396	CV3725078	single nucleotide variant	NM_012188.5(FOXI1):c.585T>G (p.Asn195Lys)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005035410]	uncertain significance	5	170108059	170108059	Human	1	name , alternate_id
597717408	CV3725079	single nucleotide variant	NM_012188.5(FOXI1):c.637C>T (p.Arg213Cys)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005035411]	uncertain significance	5	170108111	170108111	Human	1	name , alternate_id
597665618	CV3725080	single nucleotide variant	NM_012188.5(FOXI1):c.670T>C (p.Ser224Pro)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005043203]	uncertain significance	5	170108144	170108144	Human	1	name , alternate_id
597717418	CV3725082	single nucleotide variant	NM_012188.5(FOXI1):c.737C>T (p.Thr246Met)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005035412]	uncertain significance	5	170108211	170108211	Human	1	name , alternate_id
597717428	CV3725084	single nucleotide variant	NM_012188.5(FOXI1):c.760G>A (p.Gly254Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005035413]	uncertain significance	5	170108234	170108234	Human	1	name , alternate_id
597717448	CV3725086	single nucleotide variant	NM_012188.5(FOXI1):c.772G>T (p.Gly258Trp)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005035415]	uncertain significance	5	170108246	170108246	Human	1	name , alternate_id
597717455	CV3725087	single nucleotide variant	NM_012188.5(FOXI1):c.773G>C (p.Gly258Ala)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005035416]	uncertain significance	5	170108247	170108247	Human	1	name , alternate_id
597717463	CV3725088	single nucleotide variant	NM_012188.5(FOXI1):c.781A>G (p.Thr261Ala)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005035417]	uncertain significance	5	170108255	170108255	Human	1	name , alternate_id
597664722	CV3725089	single nucleotide variant	NM_012188.5(FOXI1):c.782C>A (p.Thr261Asn)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005043205]	uncertain significance	5	170108256	170108256	Human	1	name , alternate_id
597717474	CV3725090	single nucleotide variant	NM_012188.5(FOXI1):c.782C>G (p.Thr261Ser)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005035418]	uncertain significance	5	170108256	170108256	Human	1	name , alternate_id
597717483	CV3725091	single nucleotide variant	NM_012188.5(FOXI1):c.802C>A (p.Pro268Thr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005035419]	uncertain significance	5	170108276	170108276	Human	1	name , alternate_id
597717493	CV3725092	single nucleotide variant	NM_012188.5(FOXI1):c.809C>T (p.Pro270Leu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005035420]	uncertain significance	5	170108283	170108283	Human	1	name , alternate_id
597717500	CV3725093	single nucleotide variant	NM_012188.5(FOXI1):c.844C>T (p.Leu282Phe)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005035421]	uncertain significance	5	170108318	170108318	Human	1	name , alternate_id
597664730	CV3725094	single nucleotide variant	NM_012188.5(FOXI1):c.859G>A (p.Ala287Thr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005043206]	uncertain significance	5	170108333	170108333	Human	1	name , alternate_id
597717510	CV3725095	single nucleotide variant	NM_012188.5(FOXI1):c.869G>A (p.Ser290Asn)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005035422]	uncertain significance	5	170108343	170108343	Human	1	name , alternate_id
598216949	CV3973842	single nucleotide variant	NM_012188.5(FOXI1):c.302G>T (p.Gly101Val)	not specified [RCV005339941]	uncertain significance	5	170106259	170106259	Human		name
13515928	CV489073	single nucleotide variant	NM_012188.5(FOXI1):c.677C>T (p.Thr226Ile)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001153927]\|FOXI1-related disorder [RCV003925770]\|not provided [RCV000969889]\|not specified [RCV000594892]	benign\|likely benign\|uncertain significance	5	170108151	170108151	Human	2	name , trait , alternate_id
13515928	CV489073	single nucleotide variant	NM_012188.5(FOXI1):c.677C>T (p.Thr226Ile)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001153927]\|FOXI1-related disorder [RCV003925770]\|not provided [RCV000969889]\|not specified [RCV000594892]	benign\|likely benign\|uncertain significance	5	170108151	170108152	Human	2	name , trait , alternate_id
13515918	CV493608	single nucleotide variant	NM_012188.5(FOXI1):c.871G>A (p.Gly291Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005034174]\|not provided [RCV000594880]\|not specified [RCV004024843]	uncertain significance	5	170108345	170108345	Human	1	name , alternate_id
28894595	CV893861	single nucleotide variant	NM_012188.5(FOXI1):c.545A>G (p.Lys182Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001153926]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV002480556]\|not specified [RCV004032808]	uncertain significance	5	170106502	170106502	Human	2	name , alternate_id
28894510	CV893862	single nucleotide variant	NM_012188.5(FOXI1):c.727C>A (p.Pro243Thr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001153929]\|not provided [RCV002070878]	likely benign\|uncertain significance	5	170108201	170108201	Human	1	name , alternate_id
28896766	CV893863	single nucleotide variant	NM_012188.5(FOXI1):c.937G>C (p.Gly313Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001154781]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV002497580]\|not specified [RCV004032812]	uncertain significance	5	170108411	170108411	Human	2	name , alternate_id
151856029	CV1448937	single nucleotide variant	NM_012188.5(FOXI1):c.1112A>C (p.Tyr371Ser)	not provided [RCV001979532]	uncertain significance	5	170108586	170108586	Human		name
151753032	CV1457515	single nucleotide variant	NM_012188.5(FOXI1):c.1017C>A (p.Asn339Lys)	not provided [RCV001913180]	uncertain significance	5	170108491	170108491	Human		name
156261986	CV1960694	single nucleotide variant	NM_012188.5(FOXI1):c.1036C>A (p.Leu346Ile)	not provided [RCV002576876]	uncertain significance	5	170108510	170108510	Human		name
156321683	CV1992022	single nucleotide variant	NM_012188.5(FOXI1):c.1072C>T (p.Pro358Ser)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005042930]\|not provided [RCV002649287]	uncertain significance	5	170108546	170108546	Human	1	name , alternate_id
156168496	CV2041415	single nucleotide variant	NM_012188.5(FOXI1):c.1132G>C (p.Val378Leu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005034402]\|not provided [RCV002741788]	uncertain significance	5	170108606	170108606	Human	1	name , alternate_id
156209259	CV2103216	single nucleotide variant	NM_012188.5(FOXI1):c.1088G>A (p.Ser363Asn)	not provided [RCV002918096]	uncertain significance	5	170108562	170108562	Human		name
155917467	CV2152383	single nucleotide variant	NM_012188.5(FOXI1):c.1009T>C (p.Trp337Arg)	not provided [RCV002991729]	uncertain significance	5	170108483	170108483	Human		name
11594368	CV296820	single nucleotide variant	NM_012188.5(FOXI1):c.1013C>T (p.Ala338Val)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000358373]\|not provided [RCV001850863]	uncertain significance	5	170108487	170108487	Human	1	name , alternate_id
11582452	CV302959	single nucleotide variant	NM_012188.5(FOXI1):c.1088G>T (p.Ser363Ile)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000259836]\|not provided [RCV001850864]	uncertain significance	5	170108562	170108562	Human	1	name , alternate_id
405141442	CV3046013	single nucleotide variant	NM_012188.5(FOXI1):c.1085A>G (p.Asn362Ser)	not provided [RCV003725634]	likely benign	5	170108559	170108559	Human		name
596931695	CV3538795	single nucleotide variant	NM_012188.5(FOXI1):c.1030A>G (p.Asn344Asp)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005038833]\|not provided [RCV004792921]	uncertain significance	5	170108504	170108504	Human	1	name , alternate_id
597726314	CV3673176	single nucleotide variant	NM_012188.5(FOXI1):c.1033A>G (p.Met345Val)	not specified [RCV004919319]	uncertain significance	5	170108507	170108507	Human		name
597717522	CV3725096	single nucleotide variant	NM_012188.5(FOXI1):c.1003G>T (p.Gly335Cys)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005035423]	uncertain significance	5	170108477	170108477	Human	1	name , alternate_id
597717533	CV3725098	single nucleotide variant	NM_012188.5(FOXI1):c.1022T>C (p.Met341Thr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005035424]	uncertain significance	5	170108496	170108496	Human	1	name , alternate_id
597664737	CV3725099	single nucleotide variant	NM_012188.5(FOXI1):c.1076A>G (p.His359Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005043207]	uncertain significance	5	170108550	170108550	Human	1	name , alternate_id
13519797	CV491207	single nucleotide variant	NM_012188.5(FOXI1):c.1018C>G (p.Pro340Ala)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001158231]\|FOXI1-related disorder [RCV003952974]\|not provided [RCV001755982]\|not specified [RCV000598154]	likely benign\|uncertain significance	5	170108492	170108492	Human	1	name , trait , alternate_id
28904991	CV893864	single nucleotide variant	NM_012188.5(FOXI1):c.1004G>A (p.Gly335Asp)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001158229]	uncertain significance	5	170108478	170108478	Human	1	name , alternate_id
28904998	CV893865	single nucleotide variant	NM_012188.5(FOXI1):c.1090G>A (p.Val364Ile)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001158232]\|not provided [RCV002558396]	uncertain significance	5	170108564	170108564	Human	1	name , alternate_id
11663378	CV302958	deletion	NM_012188.5(FOXI1):c.965_967del (p.Phe322del)	Nonsyndromic Hearing Loss, Mixed [RCV000395183]\|Pendred syndrome [RCV000349533]	uncertain significance	5	170108437	170108439	Human	2	name
597717623	CV3725068	deletion	NM_012188.5(FOXI1):c.238_249del (p.Asn80_Pro83del)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005035403]	uncertain significance	5	170106190	170106201	Human	1	name , alternate_id
126751569	CV1002221	single nucleotide variant	NM_002241.5(KCNJ10):c.5C>G (p.Thr2Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002486241]\|EAST syndrome [RCV001316139]	uncertain significance	1	160042528	160042528	Human	3	alternate_id
126759692	CV1007085	single nucleotide variant	NM_000441.2(SLC26A4):c.227C>G (p.Pro76Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005040172]\|not provided [RCV001318130]	likely pathogenic\|uncertain significance	7	107663358	107663358	Human	2	alternate_id
126742218	CV1016830	single nucleotide variant	NM_000441.2(SLC26A4):c.765+4A>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV004813165]\|Pendred syndrome [RCV001329895]	pathogenic\|uncertain significance	7	107675113	107675113	Human	2	alternate_id
126742207	CV1016831	single nucleotide variant	NM_000441.2(SLC26A4):c.1234G>T (p.Val412Phe)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001329891]\|not provided [RCV002546359]	conflicting interpretations of pathogenicity\|uncertain significance	7	107690208	107690208	Human	1	alternate_id
126737520	CV1020324	single nucleotide variant	NM_000441.2(SLC26A4):c.1615-2A>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV001335321]\|Pendred syndrome [RCV001830394]\|not provided [RCV001389807]	pathogenic\|likely pathogenic	7	107700081	107700081	Human	2	alternate_id
126737524	CV1020325	microsatellite	NM_000441.2(SLC26A4):c.2184_2187dup (p.Gln730fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001335322]	pathogenic	7	107710143	107710144	Human		alternate_id
126771544	CV1022693	single nucleotide variant	NM_002241.5(KCNJ10):c.541T>C (p.Phe181Leu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002493770]\|EAST syndrome [RCV001345104]\|Inborn genetic diseases [RCV002350634]	uncertain significance	1	160041992	160041992	Human	4	alternate_id
126764985	CV1022696	single nucleotide variant	NM_002241.5(KCNJ10):c.83G>A (p.Arg28Gln)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002499677]\|EAST syndrome [RCV001341861]	uncertain significance	1	160042450	160042450	Human	3	alternate_id
8655050	CV102920	duplication	NM_000441.2(SLC26A4):c.997dup (p.Arg333fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000083261]	pathogenic	7	107683531	107683532	Human	2	alternate_id
126909691	CV1036867	single nucleotide variant	NM_000441.2(SLC26A4):c.2069T>A (p.Val690Glu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001353374]	likely pathogenic	7	107704365	107704365	Human	1	alternate_id
126916399	CV1039522	single nucleotide variant	NM_002241.5(KCNJ10):c.1028G>A (p.Arg343His)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005005206]\|EAST syndrome [RCV001360551]	uncertain significance	1	160041505	160041505	Human	2	alternate_id
126918256	CV1039527	single nucleotide variant	NM_002241.5(KCNJ10):c.107G>A (p.Arg36His)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005040215]\|EAST syndrome [RCV001361621]	uncertain significance	1	160042426	160042426	Human	2	alternate_id
126908434	CV1039528	single nucleotide variant	NM_002241.5(KCNJ10):c.79C>T (p.Arg27Trp)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002493875]\|EAST syndrome [RCV001367856]	uncertain significance	1	160042454	160042454	Human	3	alternate_id
126908929	CV1052899	single nucleotide variant	NM_000441.2(SLC26A4):c.1371C>G (p.Asn457Lys)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001374674]	likely pathogenic	7	107694650	107694650	Human	1	alternate_id
126910293	CV1053516	single nucleotide variant	NM_000441.2(SLC26A4):c.87G>C (p.Glu29Asp)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001375677]	likely pathogenic	7	107661728	107661728	Human	1	alternate_id
126910299	CV1053517	single nucleotide variant	NM_000441.2(SLC26A4):c.317C>A (p.Ala106Asp)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001375679]\|not provided [RCV005094507]	pathogenic	7	107672150	107672150	Human	1	alternate_id
126910308	CV1053518	deletion	NM_000441.2(SLC26A4):c.387del (p.Phe130fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001375683]\|not provided [RCV001865882]	pathogenic	7	107672220	107672220	Human	1	alternate_id
126910318	CV1053519	single nucleotide variant	NM_000441.2(SLC26A4):c.415+2T>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV001375687]	pathogenic	7	107672250	107672250	Human	1	alternate_id
126910316	CV1053520	single nucleotide variant	NM_000441.2(SLC26A4):c.754T>C (p.Ser252Pro)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001375686]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV002488192]\|Pendred syndrome [RCV001836381]\|not provided [RCV001381508]	pathogenic\|likely pathogenic	7	107675098	107675098	Human	2	alternate_id
126910313	CV1053521	single nucleotide variant	NM_000441.2(SLC26A4):c.1264-12T>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV001375685]	pathogenic\|likely pathogenic	7	107694391	107694391	Human	1	alternate_id
126910324	CV1053522	duplication	NM_000441.2(SLC26A4):c.1299dup (p.Ala434fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001375690]	pathogenic	7	107694437	107694438	Human	1	alternate_id
126910303	CV1053523	single nucleotide variant	NM_000441.2(SLC26A4):c.1656T>G (p.Ser552Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001375681]	likely pathogenic	7	107700124	107700124	Human	1	alternate_id
126910296	CV1053524	single nucleotide variant	NM_000441.2(SLC26A4):c.1786C>T (p.Gln596Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001375678]	pathogenic	7	107701179	107701179	Human	1	alternate_id
126910322	CV1053525	single nucleotide variant	NM_000441.2(SLC26A4):c.1991C>T (p.Ala664Val)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001375689]\|not provided [RCV001780275]	pathogenic\|likely pathogenic	7	107702014	107702014	Human	1	alternate_id
126910310	CV1053526	single nucleotide variant	NM_000441.2(SLC26A4):c.2000T>C (p.Phe667Ser)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001375684]\|not provided [RCV001751743]	pathogenic\|uncertain significance	7	107702023	107702023	Human	1	alternate_id
126910305	CV1053527	single nucleotide variant	NM_000441.2(SLC26A4):c.2162C>A (p.Thr721Lys)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001375682]	likely pathogenic	7	107710126	107710126	Human	1	alternate_id
127258548	CV1055654	single nucleotide variant	NM_000441.2(SLC26A4):c.1803+2T>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV003473921]\|Pendred syndrome [RCV004801003]\|not provided [RCV001379961]	pathogenic\|likely pathogenic	7	107701198	107701198	Human	2	alternate_id
127254766	CV1060941	single nucleotide variant	NM_000441.2(SLC26A4):c.25G>T (p.Glu9Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV004570960]\|not provided [RCV001386210]	pathogenic\|likely pathogenic	7	107661666	107661666	Human	1	alternate_id
127268144	CV1060943	single nucleotide variant	NM_000441.2(SLC26A4):c.170C>A (p.Ser57Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002250759]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005040267]\|Pendred syndrome [RCV001831400]\|Rare genetic deafness [RCV004017832]\|not provided [RCV001389157]	pathogenic	7	107663301	107663301	Human	2	alternate_id
127268640	CV1060950	single nucleotide variant	NM_000441.2(SLC26A4):c.1150-1G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV003473991]\|not provided [RCV001389295]	pathogenic\|likely pathogenic	7	107690123	107690123	Human	1	alternate_id
127254903	CV1060951	single nucleotide variant	NM_000441.2(SLC26A4):c.1150-1G>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV003473964]\|not provided [RCV001386236]	pathogenic\|likely pathogenic	7	107690123	107690123	Human	1	alternate_id
127257154	CV1060953	single nucleotide variant	NM_000441.2(SLC26A4):c.1343C>A (p.Ser448Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003473969]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005038199]\|not provided [RCV001386693]	pathogenic\|likely pathogenic	7	107694622	107694622	Human	2	alternate_id
127266265	CV1060954	single nucleotide variant	NM_000441.2(SLC26A4):c.1614+1G>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV003473935]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005038180]\|not provided [RCV001381665]	pathogenic\|likely pathogenic	7	107698112	107698112	Human	2	alternate_id
127238956	CV1060956	duplication	NM_000441.2(SLC26A4):c.1984dup (p.Cys662fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003473943]\|not provided [RCV001383134]	pathogenic	7	107702006	107702007	Human	1	alternate_id
127260744	CV1060957	deletion	NM_000441.2(SLC26A4):c.2026del (p.Leu676fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003473979]\|not provided [RCV001387414]	pathogenic\|likely pathogenic	7	107702049	107702049	Human	1	alternate_id
127282993	CV1074212	single nucleotide variant	NM_000441.2(SLC26A4):c.471C>T (p.Pro157=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV004797945]\|not provided [RCV001411500]	likely pathogenic\|likely benign	7	107674219	107674219	Human	1	alternate_id
127319955	CV1117381	single nucleotide variant	NM_000441.2(SLC26A4):c.768G>A (p.Thr256=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002495684]\|not provided [RCV001466757]	likely benign	7	107683204	107683204	Human	2	alternate_id
127338068	CV1130514	single nucleotide variant	NM_002241.5(KCNJ10):c.117G>A (p.Val39=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005040291]\|EAST syndrome [RCV001493485]	likely benign\|uncertain significance	1	160042416	160042416	Human	2	alternate_id
127287267	CV1138286	single nucleotide variant	NM_000441.2(SLC26A4):c.990C>T (p.Ser330=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002495748]\|not provided [RCV001494834]	likely benign	7	107683526	107683526	Human	2	alternate_id
151349356	CV1170230	microsatellite	NM_000441.2(SLC26A4):c.882_883del (p.His294fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003448412]\|Ear malformation [RCV001814549]	likely pathogenic	7	107683315	107683316	Human		alternate_id
151661200	CV1175044	deletion	NM_000441.2(SLC26A4):c.593_600+8del	Autosomal recessive nonsyndromic hearing loss 4 [RCV001822895]	pathogenic	7	107674338	107674353	Human	1	alternate_id
151661524	CV1175591	single nucleotide variant	NM_000441.2(SLC26A4):c.3G>A (p.Met1Ile)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001823276]	pathogenic	7	107661644	107661644	Human	1	alternate_id
151661525	CV1175592	single nucleotide variant	NM_000441.2(SLC26A4):c.79T>C (p.Tyr27His)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001823277]	pathogenic	7	107661720	107661720	Human	1	alternate_id
151661527	CV1175593	single nucleotide variant	NM_000441.2(SLC26A4):c.305-1G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV001823278]	pathogenic	7	107672137	107672137	Human	1	alternate_id
151661528	CV1175594	single nucleotide variant	NM_000441.2(SLC26A4):c.401G>C (p.Arg134Thr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001823279]	likely pathogenic	7	107672234	107672234	Human	1	alternate_id
151661530	CV1175595	single nucleotide variant	NM_000441.2(SLC26A4):c.600+2T>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV001823280]	pathogenic	7	107674350	107674350	Human	1	alternate_id
151661531	CV1175596	duplication	NM_000441.2(SLC26A4):c.667_669dup (p.Phe223dup)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001823281]	pathogenic	7	107675009	107675010	Human	1	alternate_id
151661533	CV1175597	deletion	NM_000441.2(SLC26A4):c.698_701del (p.Val233fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001823282]	pathogenic	7	107675042	107675045	Human	1	alternate_id
151661534	CV1175598	single nucleotide variant	NM_000441.2(SLC26A4):c.1002G>T (p.Gly334=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001823283]	likely pathogenic	7	107689053	107689053	Human	1	alternate_id
151661536	CV1175599	single nucleotide variant	NM_000441.2(SLC26A4):c.1325T>C (p.Leu442Pro)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001823284]	likely pathogenic	7	107694464	107694464	Human	1	alternate_id
151661563	CV1175600	insertion	NM_000441.2(SLC26A4):c.1342-1_1342insCTG	Autosomal recessive nonsyndromic hearing loss 4 [RCV001823299]	pathogenic	7	107694619	107694620	Human	1	alternate_id
151661564	CV1175601	single nucleotide variant	NM_000441.2(SLC26A4):c.1552T>G (p.Trp518Gly)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001823300]	likely pathogenic	7	107698049	107698049	Human	1	alternate_id
151661566	CV1175602	single nucleotide variant	NM_000441.2(SLC26A4):c.1657C>T (p.Pro553Ser)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001823301]\|not specified [RCV005237885]	likely pathogenic\|uncertain significance	7	107700125	107700125	Human	1	alternate_id
151661567	CV1175603	single nucleotide variant	NM_000441.2(SLC26A4):c.1803+1G>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV001823302]	pathogenic	7	107701197	107701197	Human	1	alternate_id
151661569	CV1175604	deletion	NM_000441.2(SLC26A4):c.1828del (p.Ser610fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001823303]	pathogenic	7	107701849	107701849	Human	1	alternate_id
151661570	CV1175605	deletion	NM_000441.2(SLC26A4):c.2039del (p.Val680fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001823304]	pathogenic	7	107704335	107704335	Human	1	alternate_id
150426296	CV1187166	single nucleotide variant	NM_000441.2(SLC26A4):c.340G>A (p.Gly114Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002488379]\|Pendred syndrome [RCV001827474]\|not provided [RCV001559389]	likely pathogenic\|uncertain significance	7	107672173	107672173	Human	2	alternate_id
150529753	CV1192628	single nucleotide variant	NM_000441.2(SLC26A4):c.1662T>G (p.Ile554Met)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001729949]	uncertain significance	7	107700130	107700130	Human	1	alternate_id
150419933	CV1193862	single nucleotide variant	NM_000441.2(SLC26A4):c.765+5G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV005052836]\|not provided [RCV001569897]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	7	107675114	107675114	Human	1	alternate_id
150414211	CV1199768	single nucleotide variant	NM_000441.2(SLC26A4):c.188G>C (p.Gly63Ala)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001579258]\|Pendred syndrome [RCV001579259]\|not provided [RCV003771759]	uncertain significance	7	107663319	107663319	Human	2	alternate_id
150413786	CV1199769	single nucleotide variant	NM_000441.2(SLC26A4):c.794G>C (p.Gly265Ala)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001578955]\|Pendred syndrome [RCV001578956]	uncertain significance	7	107683230	107683230	Human	2	alternate_id
150414215	CV1199770	single nucleotide variant	NM_000441.2(SLC26A4):c.1861A>G (p.Ile621Val)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001579261]\|Pendred syndrome [RCV001579262]	uncertain significance	7	107701884	107701884	Human	2	alternate_id
150408655	CV1200160	single nucleotide variant	NM_000441.2(SLC26A4):c.1003T>G (p.Phe335Val)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001580202]	likely pathogenic	7	107689054	107689054	Human	1	alternate_id
150451891	CV1207310	single nucleotide variant	NM_000441.2(SLC26A4):c.1915G>T (p.Asp639Tyr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001582438]\|Pendred syndrome [RCV001582437]	uncertain significance	7	107701938	107701938	Human	2	alternate_id
151726283	CV1286853	single nucleotide variant	NM_000441.2(SLC26A4):c.614G>T (p.Gly205Val)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002051732]	uncertain significance	7	107674958	107674958	Human	1	alternate_id
151726286	CV1286854	single nucleotide variant	NM_000441.2(SLC26A4):c.1327G>C (p.Glu443Gln)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002051733]	pathogenic	7	107694466	107694466	Human	1	alternate_id
151726293	CV1286855	single nucleotide variant	NM_000441.2(SLC26A4):c.1594A>C (p.Ser532Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002051734]\|not provided [RCV002538664]	pathogenic	7	107698091	107698091	Human	1	alternate_id
151719221	CV1286856	single nucleotide variant	NM_000441.2(SLC26A4):c.279T>A (p.Ser93Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002051735]\|not provided [RCV002032668]	pathogenic\|likely pathogenic	7	107663410	107663410	Human	1	alternate_id
151726301	CV1286857	single nucleotide variant	NM_000441.2(SLC26A4):c.421T>C (p.Phe141Leu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002051736]	pathogenic	7	107674169	107674169	Human	1	alternate_id
151726306	CV1286858	indel	NM_000441.2(SLC26A4):c.624_632delinsACTTGGC (p.Gly209fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002051737]	pathogenic	7	107674968	107674976	Human		alternate_id
151726311	CV1286859	single nucleotide variant	NM_000441.2(SLC26A4):c.812A>G (p.Asp271Gly)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002051738]\|not provided [RCV004719169]	pathogenic\|likely pathogenic	7	107683248	107683248	Human	1	alternate_id
151726315	CV1286860	single nucleotide variant	NM_000441.2(SLC26A4):c.1369A>G (p.Asn457Asp)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002051739]	pathogenic	7	107694648	107694648	Human	1	alternate_id
151726323	CV1286862	single nucleotide variant	NM_000441.2(SLC26A4):c.1716T>A (p.Phe572Leu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002051741]\|Pendred syndrome [RCV004770190]	pathogenic\|likely pathogenic	7	107701109	107701109	Human	2	alternate_id
151726329	CV1286863	single nucleotide variant	NM_000441.2(SLC26A4):c.1985G>A (p.Cys662Tyr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002051742]\|Pendred syndrome [RCV004770191]	pathogenic	7	107702008	107702008	Human	2	alternate_id
151726334	CV1286864	single nucleotide variant	NM_000441.2(SLC26A4):c.2107C>G (p.Leu703Val)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002051743]\|not provided [RCV003558848]	pathogenic\|likely pathogenic	7	107710071	107710071	Human	1	alternate_id
150547708	CV1292132	single nucleotide variant	NM_000441.2(SLC26A4):c.304G>A (p.Gly102Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001810305]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005040341]\|not provided [RCV002032742]\|not specified [RCV001733798]	pathogenic\|likely pathogenic	7	107663435	107663435	Human	2	alternate_id
150528064	CV1299046	single nucleotide variant	NM_000441.2(SLC26A4):c.2234C>T (p.Thr745Met)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002506775]\|not provided [RCV001754954]	uncertain significance	7	107710198	107710198	Human	2	alternate_id
150553435	CV1303431	single nucleotide variant	NM_000441.2(SLC26A4):c.803A>G (p.Asn268Ser)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002477982]\|Inborn genetic diseases [RCV002540485]\|not provided [RCV001769121]	uncertain significance	7	107683239	107683239	Human	3	alternate_id
150554674	CV1304393	single nucleotide variant	NM_000441.2(SLC26A4):c.424C>T (p.Pro142Ser)	Autosomal recessive nonsyndromic hearing loss 4 [RCV004584924]\|not provided [RCV001771363]	likely pathogenic\|uncertain significance	7	107674172	107674172	Human	1	alternate_id
151352009	CV1322210	single nucleotide variant	NM_000441.2(SLC26A4):c.1286C>A (p.Ala429Glu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002503295]\|not provided [RCV003481131]\|not specified [RCV001806833]	uncertain significance	7	107694425	107694425	Human	2	alternate_id
151348962	CV1324289	deletion	NM_000441.2(SLC26A4):c.2028del (p.Arg677fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001808206]	pathogenic	7	107702051	107702051	Human	1	alternate_id
151350916	CV1324875	single nucleotide variant	NM_000441.2(SLC26A4):c.334C>T (p.Pro112Ser)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001809320]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV004796666]\|not provided [RCV001869605]	pathogenic\|likely pathogenic	7	107672167	107672167	Human	2	alternate_id
151350917	CV1324876	deletion	NM_000441.2(SLC26A4):c.1054del (p.Ala352fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001809321]\|not provided [RCV002542448]	pathogenic	7	107689105	107689105	Human	1	alternate_id
151350942	CV1324894	single nucleotide variant	NM_000441.2(SLC26A4):c.284G>A (p.Gly95Glu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001809339]	pathogenic\|likely pathogenic	7	107663415	107663415	Human	1	alternate_id
8659798	CV134763	single nucleotide variant	NM_002241.5(KCNJ10):c.811C>T (p.Arg271Cys)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001101378]\|EAST syndrome [RCV000471475]\|Inborn genetic diseases [RCV002312145]\|not provided [RCV004710507]\|not specified [RCV000117320]	benign\|likely benign\|conflicting interpretations of pathogenicity	1	160041722	160041722	Human	3	alternate_id
8659799	CV134764	single nucleotide variant	NM_002241.5(KCNJ10):c.812G>A (p.Arg271His)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001099392]\|EAST syndrome [RCV000548825]\|Inborn genetic diseases [RCV002313893]\|not provided [RCV001704023]\|not specified [RCV000117321]	benign\|likely benign\|uncertain significance	1	160041721	160041721	Human	3	alternate_id
151766874	CV1348650	single nucleotide variant	NM_002241.5(KCNJ10):c.178A>G (p.Ile60Val)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002482657]\|EAST syndrome [RCV001895948]	uncertain significance	1	160042355	160042355	Human	3	alternate_id
8689237	CV137037	single nucleotide variant	NM_000441.2(SLC26A4):c.691G>C (p.Val231Leu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000119811]\|not provided [RCV002515809]	likely pathogenic\|uncertain significance	7	107675035	107675035	Human	1	alternate_id
8689238	CV137038	single nucleotide variant	NM_000441.2(SLC26A4):c.765+3A>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV000119812]\|not provided [RCV001854588]	likely pathogenic	7	107675112	107675112	Human	1	alternate_id
151772850	CV1401264	single nucleotide variant	NM_000441.2(SLC26A4):c.1574C>T (p.Pro525Leu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003475281]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005042672]\|not provided [RCV002025529]\|not specified [RCV004587288]	pathogenic\|likely pathogenic\|uncertain significance	7	107698071	107698071	Human	2	alternate_id
151863742	CV1416351	single nucleotide variant	NM_002241.5(KCNJ10):c.635A>G (p.Gln212Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002492097]\|EAST syndrome [RCV001997474]	uncertain significance	1	160041898	160041898	Human	3	alternate_id
8691717	CV141684	single nucleotide variant	NM_002241.5(KCNJ10):c.1092A>G (p.Gln364=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001097624]\|EAST syndrome [RCV000228457]\|Inborn genetic diseases [RCV002312893]\|not provided [RCV001311654]\|not specified [RCV000126412]	benign\|likely benign\|uncertain significance	1	160041441	160041441	Human	3	alternate_id
8691718	CV141685	single nucleotide variant	NM_002241.5(KCNJ10):c.-43G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV000330455]\|EAST syndrome [RCV000275266]\|KCNJ10-related disorder [RCV004532514]\|not specified [RCV000126413]	benign\|likely benign\|uncertain significance	1	160070064	160070064	Human	2	alternate_id
151846198	CV1434580	single nucleotide variant	NM_002241.5(KCNJ10):c.248G>C (p.Gly83Ala)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002478227]\|EAST syndrome [RCV001922147]\|Inborn genetic diseases [RCV002425172]	uncertain significance	1	160042285	160042285	Human	4	alternate_id
151817630	CV1441210	duplication	NM_000441.2(SLC26A4):c.745_749dup (p.Leu251fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003475181]\|not provided [RCV001933831]	pathogenic\|likely pathogenic	7	107675087	107675088	Human	1	alternate_id
151823176	CV1456542	single nucleotide variant	NM_000441.2(SLC26A4):c.347G>T (p.Gly116Val)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005040413]\|Pendred syndrome [RCV004526869]\|RASopathy [RCV004542138]\|not provided [RCV002030086]	likely pathogenic	7	107672180	107672180	Human	3	alternate_id
151808210	CV1477778	single nucleotide variant	NM_000441.2(SLC26A4):c.164+1G>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV005042599]\|not provided [RCV001953556]	pathogenic\|likely pathogenic	7	107661806	107661806	Human	2	alternate_id
151729317	CV1517648	single nucleotide variant	NM_000441.2(SLC26A4):c.617T>A (p.Leu206Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002052264]\|Sensorineural hearing loss disorder [RCV005420510]	likely pathogenic	7	107674961	107674961	Human	3	alternate_id
152981864	CV1677149	single nucleotide variant	NM_000441.2(SLC26A4):c.1124A>G (p.Tyr375Cys)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002488628]\|not provided [RCV003560883]\|not specified [RCV002248218]	likely pathogenic\|uncertain significance	7	107689175	107689175	Human	2	alternate_id
152999307	CV1679746	single nucleotide variant	NM_000441.2(SLC26A4):c.1586T>C (p.Ile529Thr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002251135]	likely pathogenic	7	107698083	107698083	Human	1	alternate_id
153346037	CV1690931	single nucleotide variant	NM_000441.2(SLC26A4):c.1300G>A (p.Ala434Thr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005356076]\|not specified [RCV002271831]	uncertain significance	7	107694439	107694439	Human	2	alternate_id
153345740	CV1691381	single nucleotide variant	NM_000441.2(SLC26A4):c.736A>C (p.Asn246His)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002272863]	uncertain significance	7	107675080	107675080	Human	1	alternate_id
155267880	CV1701425	single nucleotide variant	NM_000441.2(SLC26A4):c.1803G>A (p.Lys601=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002283650]	conflicting interpretations of pathogenicity\|uncertain significance	7	107701196	107701196	Human	1	alternate_id
155268026	CV1701528	single nucleotide variant	NM_000441.2(SLC26A4):c.346G>A (p.Gly116Ser)	Autosomal recessive nonsyndromic hearing loss 4 [RCV004572119]\|Pendred syndrome [RCV002283754]	likely pathogenic	7	107672179	107672179	Human	2	alternate_id
9692184	CV174023	single nucleotide variant	NM_000441.2(SLC26A4):c.-4+5G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV003230418]\|Pendred syndrome [RCV005359322]\|Rare genetic deafness [RCV000151882]\|SLC26A4-related disorder [RCV004737234]\|not specified [RCV003226214]	likely pathogenic\|uncertain significance	7	107660860	107660860	Human	2	alternate_id
9690836	CV174027	single nucleotide variant	NM_000441.2(SLC26A4):c.1522A>G (p.Thr508Ala)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001785482]\|Pendred syndrome [RCV000675175]\|Rare genetic deafness [RCV000156529]	pathogenic\|likely pathogenic\|uncertain significance	7	107696017	107696017	Human	2	alternate_id
9692187	CV174028	deletion	NM_000441.2(SLC26A4):c.1545-7del	Autosomal recessive nonsyndromic hearing loss 4 [RCV004584613]\|not provided [RCV000931069]\|not specified [RCV000151901]	likely pathogenic\|likely benign\|uncertain significance	7	107698035	107698035	Human	1	alternate_id
9690796	CV174031	single nucleotide variant	NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001161292]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV002484951]\|Pendred syndrome [RCV001161293]\|not provided [RCV001824289]\|not specified [RCV000156486]	conflicting interpretations of pathogenicity\|uncertain significance	7	107702052	107702052	Human	2	alternate_id
9692190	CV174032	single nucleotide variant	NM_000441.2(SLC26A4):c.2089+1G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV000477837]\|Pendred syndrome [RCV000411928]\|Rare genetic deafness [RCV000151908]\|not provided [RCV000492847]	pathogenic\|likely pathogenic	7	107704386	107704386	Human	2	alternate_id
9690828	CV174158	single nucleotide variant	NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000295053]\|Pendred syndrome [RCV000352007]\|not provided [RCV001857543]\|not specified [RCV000156520]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	107683277	107683277	Human	2	alternate_id
9690723	CV174159	single nucleotide variant	NM_000441.2(SLC26A4):c.1050G>A (p.Leu350=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000305265]\|Pendred syndrome [RCV000362271]\|not provided [RCV000958954]\|not specified [RCV000156412]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	107689101	107689101	Human	2	alternate_id
9692188	CV174163	single nucleotide variant	NM_000441.2(SLC26A4):c.1554G>A (p.Trp518Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001580203]\|Pendred syndrome [RCV001785478]\|Rare genetic deafness [RCV000151902]\|not provided [RCV003137651]	pathogenic\|likely pathogenic	7	107698051	107698051	Human	2	alternate_id
9690282	CV174164	single nucleotide variant	NM_000441.2(SLC26A4):c.1614+1G>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV004527363]\|Pendred syndrome [RCV001785480]\|Rare genetic deafness [RCV000155956]\|not provided [RCV001202917]	pathogenic\|likely pathogenic	7	107698112	107698112	Human	2	alternate_id
9688935	CV174167	single nucleotide variant	NM_000441.2(SLC26A4):c.2211G>C (p.Glu737Asp)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001785479]\|Hearing impairment [RCV001375309]\|Pendred syndrome [RCV000671675]\|not provided [RCV000945063]\|not specified [RCV000154323]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	107710175	107710175	Human	4	alternate_id
155724147	CV1781745	duplication	NM_000441.2(SLC26A4):c.518dup (p.Thr174fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003475335]\|Pendred syndrome [RCV002306773]	likely pathogenic	7	107674265	107674266	Human	2	alternate_id
155736082	CV1781879	single nucleotide variant	NM_000441.2(SLC26A4):c.1765C>T (p.Gln589Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV004572229]\|Pendred syndrome [RCV002309620]	likely pathogenic	7	107701158	107701158	Human	2	alternate_id
155667613	CV1821648	single nucleotide variant	NM_002241.5(KCNJ10):c.953C>T (p.Ser318Leu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005042819]\|Inborn genetic diseases [RCV002385157]	uncertain significance	1	160041580	160041580	Human	3	alternate_id
155698812	CV1856826	single nucleotide variant	NM_000441.2(SLC26A4):c.107A>C (p.His36Pro)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002444379]	likely pathogenic	7	107661748	107661748	Human	1	alternate_id
155698819	CV1856827	single nucleotide variant	NM_000441.2(SLC26A4):c.208C>T (p.Pro70Ser)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002444380]	likely pathogenic	7	107663339	107663339	Human	1	alternate_id
155794720	CV1860956	single nucleotide variant	NM_000441.2(SLC26A4):c.584T>C (p.Leu195Pro)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002468667]	likely pathogenic	7	107674332	107674332	Human	1	alternate_id
10042254	CV186723	single nucleotide variant	NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001580204]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005042356]\|Pendred syndrome [RCV000169378]\|not provided [RCV000505875]	pathogenic\|likely pathogenic	7	107661725	107661725	Human	2	alternate_id
10042224	CV186724	deletion	NM_000441.2(SLC26A4):c.164+1del	Autosomal recessive nonsyndromic hearing loss 4 [RCV003330085]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005042350]\|Pendred syndrome [RCV000169187]\|not provided [RCV001040907]	pathogenic\|likely pathogenic	7	107661805	107661805	Human	2	alternate_id
10042242	CV186726	single nucleotide variant	NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000625825]\|Pendred syndrome [RCV000169324]\|not provided [RCV003556211]	pathogenic\|likely pathogenic\|uncertain significance	7	107663366	107663366	Human	2	alternate_id
10042225	CV186727	single nucleotide variant	NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000785622]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005042351]\|Pendred syndrome [RCV000169192]\|not provided [RCV001850391]	pathogenic\|likely pathogenic	7	107663400	107663400	Human	2	alternate_id
10042202	CV186728	deletion	NM_000441.2(SLC26A4):c.279del (p.Ser93fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003474895]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005042348]\|Pendred syndrome [RCV000169009]\|not provided [RCV001069158]\|not specified [RCV000507613]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	7	107663410	107663410	Human	2	alternate_id
10042279	CV186729	single nucleotide variant	NM_000441.2(SLC26A4):c.304+2T>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV003474918]\|Pendred syndrome [RCV000169595]\|not provided [RCV001041501]	pathogenic\|likely pathogenic	7	107663437	107663437	Human	2	alternate_id
10042274	CV186730	duplication	NM_000441.2(SLC26A4):c.365dup (p.Ile124fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003474916]\|Pendred syndrome [RCV000169571]\|not provided [RCV000488403]	pathogenic\|likely pathogenic	7	107672192	107672193	Human	2	alternate_id
10042231	CV186731	single nucleotide variant	NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000677335]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV002498842]\|Pendred syndrome [RCV000169232]\|Rare genetic deafness [RCV000214962]\|SLC26A4-related disorder [RCV004528923]\|not provided [RCV001850394]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	7	107674302	107674302	Human	2	alternate_id
10042247	CV186732	deletion	NM_000441.2(SLC26A4):c.890del (p.Pro297fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003474908]\|Pendred syndrome [RCV000169356]\|not provided [RCV001532598]	pathogenic\|likely pathogenic	7	107683324	107683324	Human	2	alternate_id
10042260	CV186733	single nucleotide variant	NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000763146]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV001004633]\|Hearing loss, autosomal recessive [RCV001291248]\|Pendred syndrome [RCV000169430]\|not provided [RCV001381509]	pathogenic\|likely pathogenic\|affects\|conflicting interpretations of pathogenicity	7	107683537	107683537	Human	4	alternate_id
10042216	CV186734	single nucleotide variant	NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000770860]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV004796062]\|Pendred syndrome [RCV000169123]\|not provided [RCV000808026]	pathogenic\|likely pathogenic	7	107689130	107689130	Human	2	alternate_id
10042248	CV186735	deletion	NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000770865]\|Pendred syndrome [RCV000169357]\|not provided [RCV001237469]	pathogenic\|likely pathogenic	7	107696014	107696014	Human	2	alternate_id
10042210	CV186736	duplication	NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001822853]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005031689]\|Pendred syndrome [RCV000169076]\|not provided [RCV001214282]	pathogenic\|likely pathogenic	7	107698042	107698043	Human	2	alternate_id
10042276	CV186737	single nucleotide variant	NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000515656]\|Pendred syndrome [RCV000169586]\|not provided [RCV003556213]	pathogenic\|likely pathogenic	7	107698083	107698083	Human	2	alternate_id
10042256	CV186739	single nucleotide variant	NM_000441.2(SLC26A4):c.1920G>A (p.Trp640Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003474912]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005031696]\|Pendred syndrome [RCV000169404]\|not provided [RCV001061760]	pathogenic\|likely pathogenic	7	107701943	107701943	Human	2	alternate_id
10042232	CV186740	single nucleotide variant	NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000515737]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV004796063]\|Pendred syndrome [RCV000169245]\|not provided [RCV001048975]	pathogenic\|likely pathogenic	7	107701998	107701998	Human	2	alternate_id
10042278	CV186741	single nucleotide variant	NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000770868]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005042361]\|Pendred syndrome [RCV000169591]\|not provided [RCV000760432]	pathogenic\|likely pathogenic	7	107704382	107704382	Human	2	alternate_id
10042229	CV186742	deletion	NM_000441.2(SLC26A4):c.2127del (p.Phe709fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003474900]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005031691]\|Pendred syndrome [RCV000169223]\|not provided [RCV001208827]	pathogenic\|likely pathogenic	7	107710089	107710089	Human	2	alternate_id
156304672	CV1868054	single nucleotide variant	NM_000441.2(SLC26A4):c.398C>A (p.Ser133Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005045179]\|not provided [RCV003062126]	pathogenic	7	107672231	107672231	Human	2	alternate_id
156060775	CV1868056	duplication	NM_000441.2(SLC26A4):c.783dup (p.Gln262fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV004572725]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005045180]\|not provided [RCV003037253]	pathogenic	7	107683214	107683215	Human	2	alternate_id
10050335	CV191764	single nucleotide variant	NM_000441.2(SLC26A4):c.1730T>C (p.Val577Ala)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001785491]\|Hearing impairment [RCV000415063]\|Pendred syndrome [RCV001785490]\|SLC26A4-related disorder [RCV004737267]\|not provided [RCV000175011]\|not specified [RCV003488425]	uncertain significance	7	107701123	107701123	Human	4	alternate_id
10050700	CV192326	single nucleotide variant	NM_002241.5(KCNJ10):c.530A>G (p.Glu177Gly)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000348162]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV000768246]\|EAST syndrome [RCV001084650]\|Inborn genetic diseases [RCV002345601]\|KCNJ10-related disorder [RCV004537388]\|not provided [RCV000724333]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	160042003	160042003	Human	3	alternate_id
10053378	CV196183	single nucleotide variant	NM_000441.2(SLC26A4):c.1040C>T (p.Ser347Leu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001159775]\|Inborn genetic diseases [RCV003165379]\|Pendred syndrome [RCV001159776]\|not provided [RCV000724401]\|not specified [RCV000180506]	conflicting interpretations of pathogenicity\|uncertain significance	7	107689091	107689091	Human	3	alternate_id
156394497	CV1984411	single nucleotide variant	NM_000441.2(SLC26A4):c.2113C>T (p.Gln705Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003475407]\|not provided [RCV002635334]	pathogenic	7	107710077	107710077	Human	1	alternate_id
8558305	CV19854	deletion	NM_000441.2(SLC26A4):c.917del (p.Val306fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000005084]	pathogenic	7	107683353	107683353	Human	1	alternate_id
8606333	CV19855	single nucleotide variant	NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001004645]\|Deafness [RCV004798754]\|Hearing impairment [RCV001375472]\|Pendred syndrome [RCV000169242]\|Rare genetic deafness [RCV000036444]\|not provided [RCV000489866]	pathogenic\|likely pathogenic\|affects\|uncertain significance\|no classifications from unflagged records	7	107695984	107695984	Human	5	alternate_id
8596573	CV19856	single nucleotide variant	NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000036505]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV001089560]\|Hearing impairment [RCV001375179]\|Pendred syndrome [RCV000005086]\|Rare genetic deafness [RCV000824766]\|SLC26A4-related disorder [RCV004528073]\|not provided [RCV000524013]	pathogenic\|likely pathogenic	7	107675051	107675051	Human	4	alternate_id
8596574	CV19857	single nucleotide variant	NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000036432]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV001004638]\|Pendred syndrome [RCV000005087]\|Rare genetic deafness [RCV000824771]\|SLC26A4-related disorder [RCV004528074]\|not provided [RCV000435157]	pathogenic\|affects\|conflicting interpretations of pathogenicity	7	107690220	107690220	Human	2	alternate_id
8596575	CV19858	single nucleotide variant	NM_000441.2(SLC26A4):c.1001+1G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV000036418]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV000477914]\|Pendred syndrome [RCV000005088]\|Rare genetic deafness [RCV000824768]\|SLC26A4-related disorder [RCV004528075]\|not provided [RCV000239276]	pathogenic	7	107683538	107683538	Human	2	alternate_id
8596576	CV19859	single nucleotide variant	NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001095693]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV002482829]\|Pendred syndrome [RCV000005089]\|Rare genetic deafness [RCV000036425]\|SLC26A4-related disorder [RCV004528076]\|not provided [RCV000520205]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	7	107690125	107690125	Human	2	alternate_id
8596577	CV19860	single nucleotide variant	NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000005090]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV000036501]\|Pendred syndrome [RCV000344627]\|Rare genetic deafness [RCV000824764]\|SLC26A4-related disorder [RCV004528077]\|not provided [RCV000308471]	pathogenic\|likely pathogenic	7	107674970	107674970	Human	2	alternate_id
8596578	CV19861	single nucleotide variant	NM_000441.2(SLC26A4):c.1105A>G (p.Lys369Glu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000005091]	pathogenic\|affects	7	107689156	107689156	Human	1	alternate_id
8596579	CV19862	single nucleotide variant	NM_000441.2(SLC26A4):c.1115C>T (p.Ala372Val)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000005092]\|Pendred syndrome [RCV005406724]	pathogenic	7	107689166	107689166	Human	2	alternate_id
8558306	CV19863	insertion	SLC26A4, 5-BP INS, NT2111	Autosomal recessive nonsyndromic hearing loss 4 [RCV000005093]	pathogenic				Human		alternate_id
8596580	CV19864	single nucleotide variant	NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000005094]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV002476929]\|Pendred syndrome [RCV000005095]\|Rare genetic deafness [RCV000036477]\|SLC26A4-related disorder [RCV004528078]\|not provided [RCV000480319]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	7	107710132	107710132	Human	2	alternate_id
8596581	CV19865	single nucleotide variant	NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000005096]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005041983]\|Pendred syndrome [RCV000005097]\|Rare genetic deafness [RCV000154350]\|not provided [RCV001057908]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters	7	107710126	107710126	Human	2	alternate_id
8558308	CV19867	single nucleotide variant	NM_000441.2(SLC26A4):c.415+7A>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV003155017]\|Pendred syndrome [RCV000005099]\|not provided [RCV003555919]	pathogenic	7	107672255	107672255	Human	2	alternate_id
8596582	CV19868	single nucleotide variant	NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001004641]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005041984]\|Pendred syndrome [RCV000005100]\|Rare genetic deafness [RCV000036437]\|not provided [RCV000413198]	pathogenic\|affects	7	107694473	107694473	Human	2	alternate_id
8596583	CV19869	single nucleotide variant	NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000036499]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV000770869]\|Pendred syndrome [RCV000005101]\|Rare genetic deafness [RCV000824763]\|not provided [RCV001389159]	pathogenic\|likely pathogenic\|affects	7	107674326	107674326	Human	2	alternate_id
8558311	CV19872	single nucleotide variant	NM_000441.2(SLC26A4):c.1002-4C>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472969]\|Pendred syndrome [RCV000005104]	pathogenic\|likely pathogenic	7	107689049	107689049	Human	2	alternate_id
8596584	CV19873	single nucleotide variant	NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001004622]\|Pendred syndrome [RCV000005105]\|not provided [RCV001851661]	pathogenic\|likely pathogenic\|affects	7	107672230	107672230	Human	2	alternate_id
8596585	CV19874	single nucleotide variant	NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000036493]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV001813952]\|Hearing impairment [RCV001375189]\|Pendred syndrome [RCV000005106]\|Rare genetic deafness [RCV000824762]\|SLC26A4-related disorder [RCV004528079]\|not provided [RCV000413949]	pathogenic	7	107672245	107672245	Human	4	alternate_id
8596586	CV19875	single nucleotide variant	NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472970]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005031392]\|Pendred syndrome [RCV000005107]\|Rare genetic deafness [RCV000036449]\|not provided [RCV001229712]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters	7	107698085	107698085	Human	2	alternate_id
8596587	CV19877	single nucleotide variant	NC_000007.14:g.107660756T>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV000005110]\|Hearing impairment [RCV001375210]\|Pendred syndrome [RCV000005109]\|not provided [RCV000412985]\|not specified [RCV000154443]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	7	107660756	107660756	Human	4	alternate_id
8596588	CV19878	single nucleotide variant	NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000005111]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV002496264]\|Pendred syndrome [RCV000169251]\|Rare genetic deafness [RCV000036509]\|SLC26A4-related disorder [RCV004528081]\|Wolff-Parkinson-White pattern [RCV000656195]\|not provided [RCV001 ... (more) 040420]	pathogenic\|likely pathogenic	7	107661726	107661726	Human	3	alternate_id
8596589	CV19879	single nucleotide variant	NM_000441.2(SLC26A4):c.919-2A>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV000005112]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV000036513]\|Hearing loss, autosomal recessive [RCV001291247]\|Pendred syndrome [RCV000169120]\|Rare genetic deafness [RCV000824767]\|SLC26A4-related disorder [RCV004737136]\|not provided [RC ... (more) V000414330]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	7	107683453	107683453	Human	4	alternate_id
8596590	CV19880	single nucleotide variant	NM_000441.2(SLC26A4):c.1540C>A (p.Gln514Lys)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000005113]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV002476930]\|Pendred syndrome [RCV001753402]\|not provided [RCV002512793]	pathogenic\|not provided	7	107696035	107696035	Human	2	alternate_id
8596591	CV19881	single nucleotide variant	NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000005114]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV000036420]\|Pendred syndrome [RCV000576732]\|Rare genetic deafness [RCV000824769]\|SLC26A4-related disorder [RCV002291265]\|not provided [RCV000656976]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|drug response\|uncertain significance	7	107689054	107689054	Human	2	alternate_id
156401184	CV1992016	single nucleotide variant	NM_002241.5(KCNJ10):c.1007T>C (p.Val336Ala)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005042929]\|EAST syndrome [RCV002605620]	uncertain significance	1	160041526	160041526	Human	2	alternate_id
10396188	CV201048	single nucleotide variant	NM_002241.5(KCNJ10):c.1061A>G (p.Lys354Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001334026]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005003542]\|EAST syndrome [RCV000463470]\|Hearing loss, autosomal recessive [RCV004577730]\|Inborn genetic diseases [RCV002408834]\|not provided [RCV000656852]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	160041472	160041472	Human	5	alternate_id
10396187	CV201049	single nucleotide variant	NM_002241.5(KCNJ10):c.1043G>A (p.Arg348His)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000764989]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV001099391]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV003224208]\|EAST syndrome [RCV000461889]\|Inborn genetic diseases [RCV002314724]\|Intellectual disability [RCV001252025]\|not ... (more) provided [RCV000726871]\|not specified [RCV001818453]	conflicting interpretations of pathogenicity\|uncertain significance	1	160041490	160041490	Human	6	alternate_id
10396181	CV201052	single nucleotide variant	NM_002241.5(KCNJ10):c.735C>G (p.Asp245Glu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000281707]\|EAST syndrome [RCV001085271]\|Inborn genetic diseases [RCV002381629]\|KCNJ10-related disorder [RCV004539742]\|not provided [RCV000727390]\|not specified [RCV000187803]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	160041798	160041798	Human	3	alternate_id
10396191	CV201055	single nucleotide variant	NM_002241.5(KCNJ10):c.652C>T (p.Leu218Phe)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000764990]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV001101379]\|EAST syndrome [RCV000810914]\|not provided [RCV004589843]	uncertain significance	1	160041881	160041881	Human	3	alternate_id
10397636	CV201056	single nucleotide variant	NM_002241.5(KCNJ10):c.427G>A (p.Ala143Thr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002503743]\|not provided [RCV000187816]	uncertain significance	1	160042106	160042106	Human	3	alternate_id
10396190	CV201057	single nucleotide variant	NM_002241.5(KCNJ10):c.301C>A (p.Pro101Thr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001095932]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005042402]\|EAST syndrome [RCV000534836]\|Inborn genetic diseases [RCV002433847]\|not provided [RCV003482241]\|not specified [RCV000187815]	uncertain significance	1	160042232	160042232	Human	3	alternate_id
10396184	CV201058	single nucleotide variant	NM_002241.5(KCNJ10):c.250G>A (p.Val84Met)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005003541]\|EAST syndrome [RCV000807727]\|Inborn genetic diseases [RCV002514016]\|not provided [RCV000187807]	uncertain significance	1	160042283	160042283	Human	3	alternate_id
10396189	CV201061	single nucleotide variant	NM_002241.5(KCNJ10):c.179T>C (p.Ile60Thr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005042401]\|EAST syndrome [RCV000646755]\|Inborn genetic diseases [RCV002311273]\|not provided [RCV000187814]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	160042354	160042354	Human	3	alternate_id
10396183	CV201062	single nucleotide variant	NM_002241.5(KCNJ10):c.52C>T (p.Arg18Trp)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001099502]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005042400]\|EAST syndrome [RCV000464419]\|Inborn genetic diseases [RCV002314723]\|not provided [RCV001288236]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	160042481	160042481	Human	3	alternate_id
155928561	CV2067135	deletion	NM_000441.2(SLC26A4):c.642del (p.Leu215fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003475435]\|not provided [RCV002838647]	pathogenic\|likely pathogenic	7	107674986	107674986	Human	1	alternate_id
10403883	CV206727	single nucleotide variant	NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001535830]\|EAST syndrome [RCV000193637]\|Inborn genetic diseases [RCV002399714]\|not provided [RCV000578956]	pathogenic\|likely pathogenic\|uncertain significance	1	160042457	160042457	Human	4	alternate_id
156284337	CV2187043	single nucleotide variant	NM_000441.2(SLC26A4):c.419C>G (p.Pro140Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005045176]\|not provided [RCV003044885]	likely pathogenic	7	107674167	107674167	Human	2	alternate_id
8597524	CV22502	single nucleotide variant	NM_002241.5(KCNJ10):c.595C>T (p.Arg199Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002496303]\|EAST syndrome [RCV000007889]\|not provided [RCV003128569]	pathogenic\|likely pathogenic	1	160041938	160041938	Human	3	alternate_id
8597527	CV22505	single nucleotide variant	NM_002241.5(KCNJ10):c.500C>T (p.Ala167Val)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001536078]\|EAST syndrome [RCV000007892]\|not provided [RCV002221471]	pathogenic	1	160042033	160042033	Human	3	alternate_id
8597528	CV22506	single nucleotide variant	NM_002241.5(KCNJ10):c.889C>T (p.Arg297Cys)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002490337]\|EAST syndrome [RCV000007893]\|not provided [RCV000413534]	pathogenic\|likely pathogenic	1	160041644	160041644	Human	3	alternate_id
8597530	CV22508	single nucleotide variant	NM_002241.5(KCNJ10):c.581C>A (p.Pro194His)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000007895]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005042011]	pathogenic\|likely pathogenic\|no classifications from unflagged records	1	160041952	160041952	Human	2	alternate_id
8597531	CV22509	single nucleotide variant	NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000007896]\|EAST syndrome [RCV000687427]\|KCNJ10-related disorder [RCV000784954]\|not provided [RCV000725885]\|not specified [RCV000358648]	pathogenic\|likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|no classifications from unflagged records	1	160041491	160041491	Human	2	alternate_id
12907393	CV227307	single nucleotide variant	NM_000441.2(SLC26A4):c.225C>G (p.Leu75=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000490411]\|Hearing impairment [RCV001375089]\|Inborn genetic diseases [RCV003258699]\|Pendred syndrome [RCV000666650]\|SLC26A4-related disorder [RCV004530264]\|not provided [RCV000879288]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	107663356	107663356	Human	5	alternate_id
11094771	CV229532	single nucleotide variant	NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001004619]\|Pendred syndrome [RCV001004774]\|not provided [RCV000726317]\|not specified [RCV000221470]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|other	7	107661788	107661788	Human	2	alternate_id
11093953	CV229533	single nucleotide variant	NM_000441.2(SLC26A4):c.441G>A (p.Met147Ile)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001785521]\|Pendred syndrome [RCV000669107]\|not provided [RCV000938259]\|not specified [RCV000220422]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	107674189	107674189	Human	2	alternate_id
11095811	CV229539	single nucleotide variant	NM_000441.2(SLC26A4):c.1616T>C (p.Ile539Thr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001785520]\|Inborn genetic diseases [RCV002519655]\|Pendred syndrome [RCV001277150]\|not provided [RCV000884664]\|not specified [RCV000222793]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	107700084	107700084	Human	3	alternate_id
11089751	CV229540	single nucleotide variant	NM_000441.2(SLC26A4):c.1678G>A (p.Asp560Asn)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002478773]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV003230455]\|Pendred syndrome [RCV001828084]\|not specified [RCV000215204]	likely pathogenic\|uncertain significance	7	107700146	107700146	Human	2	alternate_id
11093229	CV229541	single nucleotide variant	NM_000441.2(SLC26A4):c.1909C>A (p.Gln637Lys)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001159885]\|Inborn genetic diseases [RCV002518206]\|Pendred syndrome [RCV001159886]\|not specified [RCV000219513]	uncertain significance	7	107701932	107701932	Human	3	alternate_id
11092259	CV229545	single nucleotide variant	NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000218320]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV003474997]\|Pendred syndrome [RCV000984220]\|Rare genetic deafness [RCV000824772]\|SLC26A4-related disorder [RCV004529370]\|not provided [RCV001232144]	pathogenic\|likely pathogenic	7	107710135	107710135	Human	2	alternate_id
11090470	CV229547	single nucleotide variant	NM_000441.2(SLC26A4):c.2317G>A (p.Glu773Lys)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002485399]\|Hearing loss [RCV000509100]\|Pendred syndrome [RCV001828085]\|not specified [RCV000216093]	uncertain significance\|not provided	7	107712620	107712620	Human	4	alternate_id
11349894	CV238152	single nucleotide variant	NM_002241.5(KCNJ10):c.136G>A (p.Asp46Asn)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001097719]\|EAST syndrome [RCV001085543]\|Inborn genetic diseases [RCV002317765]\|KCNJ10-related disorder [RCV004541386]\|not provided [RCV000712154]\|not specified [RCV000374787]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	160042397	160042397	Human	3	alternate_id
243056202	CV2419352	single nucleotide variant	NM_000441.2(SLC26A4):c.203T>C (p.Leu68Pro)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003155549]	likely pathogenic	7	107663334	107663334	Human	1	alternate_id
243056203	CV2419353	single nucleotide variant	NM_000441.2(SLC26A4):c.1717G>C (p.Asp573His)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003230776]	likely pathogenic	7	107701110	107701110	Human	1	alternate_id
243056204	CV2419354	single nucleotide variant	NM_000441.2(SLC26A4):c.1730T>G (p.Val577Gly)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003155551]	likely pathogenic	7	107701123	107701123	Human	1	alternate_id
13211257	CV262397	duplication	NM_000441.2(SLC26A4):c.1164dup (p.Gly389fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003475881]\|Hearing loss, autosomal recessive [RCV000498741]\|not provided [RCV001855041]	pathogenic\|likely pathogenic	7	107690135	107690136	Human	3	alternate_id
11639273	CV266314	single nucleotide variant	NM_002241.5(KCNJ10):c.148C>T (p.Leu50Phe)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001097718]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV002494819]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV003224249]\|EAST syndrome [RCV000646753]\|not provided [RCV000725019]	uncertain significance	1	160042385	160042385	Human	3	alternate_id
329848369	CV2668016	single nucleotide variant	NM_000441.2(SLC26A4):c.248G>A (p.Trp83Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003229556]	pathogenic	7	107663379	107663379	Human	1	alternate_id
11638438	CV267149	single nucleotide variant	NM_000441.2(SLC26A4):c.2283A>G (p.Thr761=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001785542]\|Inborn genetic diseases [RCV004668879]\|Pendred syndrome [RCV001275121]\|not provided [RCV000303639]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	107712586	107712586	Human	3	alternate_id
11578944	CV271776	single nucleotide variant	NM_002241.5(KCNJ10):c.615A>G (p.Lys205=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000292182]\|EAST syndrome [RCV001083357]\|KCNJ10-related disorder [RCV004732827]\|not provided [RCV000726028]\|not specified [RCV000392700]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	160041918	160041918	Human	2	alternate_id
11642212	CV272115	single nucleotide variant	NM_000441.2(SLC26A4):c.1233C>T (p.Ala411=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001785546]\|Pendred syndrome [RCV001275105]\|SLC26A4-related disorder [RCV004535400]\|not provided [RCV000369696]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	107690207	107690207	Human	2	alternate_id
401797369	CV2742185	single nucleotide variant	NM_000441.2(SLC26A4):c.587T>A (p.Val196Asp)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003475561]\|not specified [RCV003324364]	likely pathogenic\|uncertain significance	7	107674335	107674335	Human	1	alternate_id
11586302	CV276764	single nucleotide variant	NM_002241.5(KCNJ10):c.*3617A>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV000287161]\|EAST syndrome [RCV000381633]	uncertain significance	1	160037776	160037776	Human	2	alternate_id
11654000	CV276765	single nucleotide variant	NM_002241.5(KCNJ10):c.*3170G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV000314278]\|EAST syndrome [RCV000368909]	uncertain significance	1	160038223	160038223	Human	2	alternate_id
11589439	CV276766	single nucleotide variant	NM_002241.5(KCNJ10):c.*3104T>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV000310616]\|EAST syndrome [RCV000365343]	uncertain significance	1	160038289	160038289	Human	2	alternate_id
11645774	CV276771	single nucleotide variant	NM_002241.5(KCNJ10):c.*3023T>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV000322033]\|EAST syndrome [RCV000267157]	uncertain significance	1	160038370	160038370	Human	2	alternate_id
11584864	CV276772	single nucleotide variant	NM_002241.5(KCNJ10):c.*2373C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV000334231]\|EAST syndrome [RCV000276842]	uncertain significance	1	160039020	160039020	Human	2	alternate_id
11584738	CV276775	single nucleotide variant	NM_002241.5(KCNJ10):c.*2062T>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV000328225]\|EAST syndrome [RCV000275599]\|not provided [RCV001689969]	benign\|likely benign	1	160039331	160039331	Human	2	alternate_id
11587616	CV276777	single nucleotide variant	NM_002241.5(KCNJ10):c.*1839C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV000392736]\|EAST syndrome [RCV000296382]	likely benign\|uncertain significance	1	160039554	160039554	Human	2	alternate_id
11582864	CV276778	single nucleotide variant	NM_002241.5(KCNJ10):c.*1764T>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV000262610]\|EAST syndrome [RCV000359621]\|not provided [RCV001651333]	benign	1	160039629	160039629	Human	2	alternate_id
11644523	CV276779	single nucleotide variant	NM_002241.5(KCNJ10):c.*1653T>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV000320088]\|EAST syndrome [RCV000260432]	uncertain significance	1	160039740	160039740	Human	2	alternate_id
11586208	CV276780	single nucleotide variant	NM_002241.5(KCNJ10):c.*1161T>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV000286109]\|EAST syndrome [RCV000344467]\|not provided [RCV003311740]	likely benign\|uncertain significance	1	160040232	160040232	Human	2	alternate_id
11646562	CV276787	single nucleotide variant	NM_002241.5(KCNJ10):c.*729G>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV000271396]\|EAST syndrome [RCV000368205]	uncertain significance	1	160040664	160040664	Human	2	alternate_id
11656580	CV276788	single nucleotide variant	NM_002241.5(KCNJ10):c.*237A>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV000334603]\|EAST syndrome [RCV000400580]	uncertain significance	1	160041156	160041156	Human	2	alternate_id
11591968	CV277031	single nucleotide variant	NM_002241.5(KCNJ10):c.*3853G>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV000354857]\|EAST syndrome [RCV000333935]	uncertain significance	1	160037540	160037540	Human	3	alternate_id
11591968	CV277031	single nucleotide variant	NM_002241.5(KCNJ10):c.*3853G>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV000354857]\|EAST syndrome [RCV000333935]	uncertain significance	1	160037540	160037541	Human	3	alternate_id
11656041	CV277033	single nucleotide variant	NM_002241.5(KCNJ10):c.*3840T>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV000369929]\|EAST syndrome [RCV000330228]	uncertain significance	1	160037553	160037553	Human	2	alternate_id
11591996	CV277034	single nucleotide variant	NM_002241.5(KCNJ10):c.*3180G>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV000391898]\|EAST syndrome [RCV000334309]	uncertain significance	1	160038213	160038213	Human	2	alternate_id
11648569	CV277037	single nucleotide variant	NM_002241.5(KCNJ10):c.*2971G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV000337347]\|EAST syndrome [RCV000282380]	uncertain significance	1	160038422	160038422	Human	2	alternate_id
11591718	CV277043	single nucleotide variant	NM_002241.5(KCNJ10):c.*2490G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV000385878]\|EAST syndrome [RCV000331615]	likely benign\|uncertain significance	1	160038903	160038903	Human	2	alternate_id
11593207	CV277044	single nucleotide variant	NM_002241.5(KCNJ10):c.*2479G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV000346670]\|EAST syndrome [RCV000406781]	uncertain significance	1	160038914	160038914	Human	2	alternate_id
11594359	CV277057	single nucleotide variant	NM_002241.5(KCNJ10):c.*2394T>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV000358581]\|EAST syndrome [RCV000405763]	benign\|uncertain significance	1	160038999	160038999	Human	2	alternate_id
11583687	CV277064	single nucleotide variant	NM_002241.5(KCNJ10):c.*1788C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV000268380]\|EAST syndrome [RCV000360581]	uncertain significance	1	160039605	160039605	Human	2	alternate_id
11584816	CV277070	single nucleotide variant	NM_002241.5(KCNJ10):c.*734C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV000354785]\|EAST syndrome [RCV000276519]	uncertain significance	1	160040659	160040659	Human	2	alternate_id
11655010	CV277071	single nucleotide variant	NM_002241.5(KCNJ10):c.*680T>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV000381146]\|EAST syndrome [RCV000322642]	uncertain significance	1	160040713	160040713	Human	2	alternate_id
11579825	CV277073	single nucleotide variant	NM_002241.5(KCNJ10):c.*171C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV000313605]\|EAST syndrome [RCV000370647]	uncertain significance	1	160041222	160041222	Human	2	alternate_id
11585822	CV277614	single nucleotide variant	NM_002241.5(KCNJ10):c.*3506C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV000378319]\|EAST syndrome [RCV000283745]	benign\|uncertain significance	1	160037887	160037887	Human	2	alternate_id
11593697	CV277615	single nucleotide variant	NM_002241.5(KCNJ10):c.*2827C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV000350864]\|EAST syndrome [RCV000391616]	uncertain significance	1	160038566	160038566	Human	2	alternate_id
11653021	CV277617	single nucleotide variant	NM_002241.5(KCNJ10):c.*2649G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV000307959]\|EAST syndrome [RCV000401938]	uncertain significance	1	160038744	160038744	Human	2	alternate_id
11650840	CV277626	single nucleotide variant	NM_002241.5(KCNJ10):c.*2520C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV000389550]\|EAST syndrome [RCV000295319]	uncertain significance	1	160038873	160038873	Human	2	alternate_id
11586499	CV277643	single nucleotide variant	NM_002241.5(KCNJ10):c.*2040C>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV000288441]\|EAST syndrome [RCV000385122]\|not provided [RCV001651331]	benign	1	160039353	160039353	Human	2	alternate_id
11587196	CV277669	single nucleotide variant	NM_002241.5(KCNJ10):c.*1435C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV000293296]\|EAST syndrome [RCV000331948]	uncertain significance	1	160039958	160039958	Human	2	alternate_id
11592869	CV277676	single nucleotide variant	NM_002241.5(KCNJ10):c.*991A>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV000343131]\|EAST syndrome [RCV000406909]	uncertain significance	1	160040402	160040402	Human	2	alternate_id
11589731	CV277681	single nucleotide variant	NM_002241.5(KCNJ10):c.*73C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV000407775]\|EAST syndrome [RCV000312754]	uncertain significance	1	160041320	160041320	Human	2	alternate_id
11591008	CV277683	single nucleotide variant	NM_002241.5(KCNJ10):c.*21A>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV000376977]\|EAST syndrome [RCV000324621]	uncertain significance	1	160041372	160041372	Human	2	alternate_id
11577845	CV277684	single nucleotide variant	NM_002241.5(KCNJ10):c.405C>T (p.Tyr135=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000358462]\|EAST syndrome [RCV000268522]\|not provided [RCV003409436]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	160042128	160042128	Human	2	alternate_id
11577416	CV277687	single nucleotide variant	NM_002241.5(KCNJ10):c.296T>C (p.Leu99Pro)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000259824]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005003617]\|EAST syndrome [RCV000354704]\|not provided [RCV000520568]	conflicting interpretations of pathogenicity\|uncertain significance	1	160042237	160042237	Human	2	alternate_id
11655637	CV277768	single nucleotide variant	NM_002241.5(KCNJ10):c.*3770C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV000327032]\|EAST syndrome [RCV000384806]	uncertain significance	1	160037623	160037623	Human	2	alternate_id
11591099	CV277769	single nucleotide variant	NM_002241.5(KCNJ10):c.*3074C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV000325645]\|EAST syndrome [RCV000380342]	uncertain significance	1	160038319	160038319	Human	2	alternate_id
11588638	CV277772	single nucleotide variant	NM_002241.5(KCNJ10):c.*2596A>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV000359101]\|EAST syndrome [RCV000304369]\|not provided [RCV002510836]	likely benign\|uncertain significance	1	160038797	160038797	Human	2	alternate_id
11656644	CV277774	single nucleotide variant	NM_002241.5(KCNJ10):c.*1855T>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV000334687]\|EAST syndrome [RCV000372935]	uncertain significance	1	160039538	160039538	Human	2	alternate_id
11658315	CV277775	single nucleotide variant	NM_002241.5(KCNJ10):c.*1827T>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV000392734]\|EAST syndrome [RCV000347927]	uncertain significance	1	160039566	160039566	Human	2	alternate_id
11650281	CV277778	single nucleotide variant	NM_002241.5(KCNJ10):c.*1165G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV000291896]\|EAST syndrome [RCV000384056]	uncertain significance	1	160040228	160040228	Human	2	alternate_id
11592643	CV277779	single nucleotide variant	NM_002241.5(KCNJ10):c.*362A>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV000379535]\|EAST syndrome [RCV000340641]	uncertain significance	1	160041031	160041031	Human	2	alternate_id
11578584	CV277782	single nucleotide variant	NM_002241.5(KCNJ10):c.1123C>T (p.Arg375Cys)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000318889]\|EAST syndrome [RCV000796705]\|Inborn genetic diseases [RCV004984784]\|not provided [RCV000712153]	uncertain significance	1	160041410	160041410	Human	3	alternate_id
401949086	CV2838616	microsatellite	NM_000441.2(SLC26A4):c.1905_1906del (p.Glu635fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472875]	likely pathogenic	7	107701925	107701926	Human		alternate_id
401949087	CV2838617	deletion	NM_000441.2(SLC26A4):c.1377del (p.Met461fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472876]	likely pathogenic	7	107694654	107694654	Human	1	alternate_id
401949089	CV2838619	deletion	NM_000441.2(SLC26A4):c.1002del	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472878]\|not provided [RCV003689099]	pathogenic\|likely pathogenic	7	107689052	107689052	Human	1	alternate_id
401949090	CV2838620	deletion	NM_000441.2(SLC26A4):c.1673del (p.Asn558fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472879]	likely pathogenic	7	107700140	107700140	Human	1	alternate_id
401949091	CV2838621	single nucleotide variant	NM_000441.2(SLC26A4):c.1370A>T (p.Asn457Ile)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472880]\|not provided [RCV003553967]	pathogenic\|likely pathogenic	7	107694649	107694649	Human	1	alternate_id
401949093	CV2838623	indel	NM_000441.2(SLC26A4):c.412_415+21delinsTGACA	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472882]\|not provided [RCV003708814]	pathogenic\|likely pathogenic	7	107672245	107672269	Human		alternate_id
401949094	CV2838624	microsatellite	NM_000441.2(SLC26A4):c.1536_1537del (p.Arg512fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472883]\|not provided [RCV003553968]	pathogenic	7	107696028	107696029	Human		alternate_id
401949117	CV2838625	single nucleotide variant	NM_000441.2(SLC26A4):c.2035-2A>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472884]	likely pathogenic	7	107704329	107704329	Human	1	alternate_id
401949118	CV2838626	deletion	NM_000441.2(SLC26A4):c.839del (p.Val280fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472885]\|SLC26A4-related disorder [RCV004738745]\|not provided [RCV003708815]	pathogenic\|likely pathogenic	7	107683275	107683275	Human	2	alternate_id
401949119	CV2838627	single nucleotide variant	NM_000441.2(SLC26A4):c.1876G>T (p.Glu626Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472886]\|not provided [RCV003779118]	pathogenic\|likely pathogenic	7	107701899	107701899	Human	1	alternate_id
401949120	CV2838628	duplication	NM_000441.2(SLC26A4):c.1022dup (p.Pro342fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472887]	pathogenic	7	107689071	107689072	Human	1	alternate_id
401949121	CV2838629	single nucleotide variant	NM_000441.2(SLC26A4):c.701C>A (p.Ser234Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472888]\|not provided [RCV003779119]	pathogenic\|likely pathogenic	7	107675045	107675045	Human	1	alternate_id
401949123	CV2838631	single nucleotide variant	NM_000441.2(SLC26A4):c.1261C>T (p.Gln421Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472890]	likely pathogenic	7	107690235	107690235	Human	1	alternate_id
401949125	CV2838633	microsatellite	NM_000441.2(SLC26A4):c.1707+4_1707+7del	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472892]	likely pathogenic	7	107700175	107700178	Human		alternate_id
401949126	CV2838634	duplication	NM_000441.2(SLC26A4):c.2215dup (p.Gln739fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472893]	likely pathogenic	7	107710178	107710179	Human	1	alternate_id
401949127	CV2838635	single nucleotide variant	NM_000441.2(SLC26A4):c.222G>A (p.Trp74Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472894]\|not provided [RCV003779120]	pathogenic\|likely pathogenic	7	107663353	107663353	Human	1	alternate_id
401949128	CV2838636	deletion	NM_000441.2(SLC26A4):c.1449del (p.Phe484fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472895]	likely pathogenic	7	107695944	107695944	Human	1	alternate_id
401949129	CV2838637	deletion	NM_000441.2(SLC26A4):c.338del (p.Val113fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472896]	likely pathogenic	7	107672171	107672171	Human	1	alternate_id
401949130	CV2838638	deletion	NM_000441.2(SLC26A4):c.2049_2058del (p.Phe683fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472897]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005036825]	likely pathogenic	7	107704336	107704345	Human	2	alternate_id
401949131	CV2838639	single nucleotide variant	NM_000441.2(SLC26A4):c.1226G>T (p.Arg409Leu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472898]	likely pathogenic	7	107690200	107690200	Human	1	alternate_id
401949133	CV2838641	single nucleotide variant	NM_000441.2(SLC26A4):c.2089+1G>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472900]	likely pathogenic	7	107704386	107704386	Human	1	alternate_id
401949134	CV2838642	single nucleotide variant	NM_000441.2(SLC26A4):c.164+2T>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472901]	pathogenic	7	107661807	107661807	Human	1	alternate_id
401949135	CV2838643	single nucleotide variant	NM_000441.2(SLC26A4):c.1615-1G>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472902]	likely pathogenic	7	107700082	107700082	Human	1	alternate_id
401949137	CV2838645	single nucleotide variant	NM_000441.2(SLC26A4):c.598C>T (p.Gln200Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472904]\|not provided [RCV003720928]	pathogenic\|likely pathogenic	7	107674346	107674346	Human	1	alternate_id
401949138	CV2838646	single nucleotide variant	NM_000441.2(SLC26A4):c.2248C>T (p.Gln750Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472905]	likely pathogenic	7	107712551	107712551	Human	1	alternate_id
401949139	CV2838647	indel	NM_000441.2(SLC26A4):c.1216_1218delinsC (p.Ala406fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472906]	likely pathogenic	7	107690190	107690192	Human		alternate_id
401949140	CV2838648	deletion	NM_000441.2(SLC26A4):c.1549del (p.Ser517fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472907]	likely pathogenic	7	107698045	107698045	Human	1	alternate_id
401949141	CV2838649	single nucleotide variant	NM_000441.2(SLC26A4):c.2035-2A>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472908]	likely pathogenic	7	107704329	107704329	Human	1	alternate_id
401949142	CV2838650	deletion	NM_000441.2(SLC26A4):c.574del (p.Ala191_Leu192insTer)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472909]	pathogenic	7	107674320	107674320	Human	1	alternate_id
401949143	CV2838651	single nucleotide variant	NM_000441.2(SLC26A4):c.1172G>A (p.Ser391Asn)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472910]	likely pathogenic	7	107690146	107690146	Human	1	alternate_id
401949145	CV2838653	single nucleotide variant	NM_000441.2(SLC26A4):c.1149+1G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472912]	pathogenic\|likely pathogenic	7	107689201	107689201	Human	1	alternate_id
401949146	CV2838654	single nucleotide variant	NM_000441.2(SLC26A4):c.1002-2A>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472913]	likely pathogenic	7	107689051	107689051	Human	1	alternate_id
401949147	CV2838655	deletion	NM_000441.2(SLC26A4):c.1614+1del	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472914]	likely pathogenic	7	107698112	107698112	Human	1	alternate_id
401949148	CV2838656	single nucleotide variant	NM_000441.2(SLC26A4):c.2034+1G>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472915]	pathogenic	7	107702058	107702058	Human	1	alternate_id
401949149	CV2838657	deletion	NM_000441.2(SLC26A4):c.414del (p.Gly139fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472916]	pathogenic	7	107672246	107672246	Human	1	alternate_id
401949150	CV2838658	single nucleotide variant	NM_000441.2(SLC26A4):c.1717G>T (p.Asp573Tyr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472917]\|Pendred syndrome [RCV004801354]	likely pathogenic	7	107701110	107701110	Human	2	alternate_id
401949151	CV2838659	single nucleotide variant	NM_000441.2(SLC26A4):c.1615A>G (p.Ile539Val)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472918]	likely pathogenic	7	107700083	107700083	Human	1	alternate_id
401949152	CV2838660	deletion	NM_000441.2(SLC26A4):c.1629del (p.Gly544fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472919]	likely pathogenic	7	107700096	107700096	Human	1	alternate_id
401949153	CV2838661	single nucleotide variant	NM_000441.2(SLC26A4):c.668T>C (p.Phe223Ser)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472920]\|not provided [RCV003553969]	pathogenic	7	107675012	107675012	Human	1	alternate_id
405230033	CV2904975	single nucleotide variant	NM_000441.2(SLC26A4):c.626G>A (p.Gly209Glu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV004796824]\|not provided [RCV003555356]	pathogenic\|likely pathogenic	7	107674970	107674970	Human	2	alternate_id
405230058	CV2904980	single nucleotide variant	NM_000441.2(SLC26A4):c.1315G>A (p.Gly439Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV004527460]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005036890]\|not provided [RCV003555360]	likely pathogenic	7	107694454	107694454	Human	2	alternate_id
11598283	CV301409	single nucleotide variant	NC_000007.14:g.107660720C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV000403554]\|Pendred syndrome [RCV000299498]\|not provided [RCV004695984]\|not specified [RCV000605842]	uncertain significance	7	107660720	107660720	Human	2	alternate_id
11585629	CV301412	single nucleotide variant	NM_000441.2(SLC26A4):c.2008G>A (p.Val670Ile)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000282239]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV002502380]\|Pendred syndrome [RCV000321318]	uncertain significance	7	107702031	107702031	Human	2	alternate_id
11590777	CV301413	single nucleotide variant	NM_000441.2(SLC26A4):c.*523A>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV000322219]\|Pendred syndrome [RCV000379121]	uncertain significance	7	107715969	107715969	Human	2	alternate_id
11583363	CV301414	single nucleotide variant	NM_000441.2(SLC26A4):c.*1123A>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV000266302]\|Pendred syndrome [RCV000305198]	uncertain significance	7	107716569	107716569	Human	2	alternate_id
11583912	CV301427	single nucleotide variant	NM_000441.2(SLC26A4):c.*1200G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV000269981]\|Pendred syndrome [RCV000362212]	uncertain significance	7	107716646	107716646	Human	2	alternate_id
11657589	CV301428	single nucleotide variant	NM_000441.2(SLC26A4):c.*1875G>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV000342301]\|Pendred syndrome [RCV000401884]	uncertain significance	7	107717321	107717321	Human	2	alternate_id
11660143	CV301429	single nucleotide variant	NM_000441.2(SLC26A4):c.*1960T>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV000364381]\|Pendred syndrome [RCV000307119]	uncertain significance	7	107717406	107717406	Human	2	alternate_id
11589419	CV301436	single nucleotide variant	NM_000441.2(SLC26A4):c.*2047A>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV000310758]\|Pendred syndrome [RCV000272142]	uncertain significance	7	107717493	107717493	Human	2	alternate_id
405145768	CV3023916	single nucleotide variant	NM_000441.2(SLC26A4):c.1027G>C (p.Val343Leu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005392663]\|not provided [RCV003702918]	likely pathogenic\|uncertain significance	7	107689078	107689078	Human	2	alternate_id
11659851	CV304625	single nucleotide variant	NM_000441.2(SLC26A4):c.-8G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV000361634]\|Pendred syndrome [RCV000269356]	uncertain significance	7	107660851	107660851	Human	2	alternate_id
11606300	CV304626	single nucleotide variant	NM_000441.2(SLC26A4):c.601-5C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV000330040]\|Pendred syndrome [RCV000387005]\|not provided [RCV000902257]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	107674940	107674940	Human	2	alternate_id
11607178	CV304627	single nucleotide variant	NM_000441.2(SLC26A4):c.888C>T (p.Ile296=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000340092]\|Pendred syndrome [RCV000301660]\|not provided [RCV003574760]	likely benign\|uncertain significance	7	107683324	107683324	Human	2	alternate_id
11656355	CV304628	single nucleotide variant	NM_000441.2(SLC26A4):c.1110A>G (p.Val370=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000332690]\|Pendred syndrome [RCV000370973]	uncertain significance	7	107689161	107689161	Human	2	alternate_id
11605919	CV304633	single nucleotide variant	NM_000441.2(SLC26A4):c.*614C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV000325549]\|Pendred syndrome [RCV000287025]\|not provided [RCV001653714]	benign\|likely benign\|uncertain significance	7	107716060	107716060	Human	2	alternate_id
11651394	CV304659	single nucleotide variant	NM_000441.2(SLC26A4):c.*840C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV000298588]\|Pendred syndrome [RCV000393589]	uncertain significance	7	107716286	107716286	Human	2	alternate_id
11612091	CV304660	single nucleotide variant	NM_000441.2(SLC26A4):c.*868G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV000403414]\|Pendred syndrome [RCV000355703]\|not provided [RCV004711010]	benign\|likely benign	7	107716314	107716314	Human	2	alternate_id
11610661	CV304662	single nucleotide variant	NM_000441.2(SLC26A4):c.*1277A>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV000384377]\|Pendred syndrome [RCV000327463]	uncertain significance	7	107716723	107716723	Human	2	alternate_id
11606442	CV304663	single nucleotide variant	NM_000441.2(SLC26A4):c.*1517G>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV000331607]\|Pendred syndrome [RCV000273640]	uncertain significance	7	107716963	107716963	Human	2	alternate_id
11609840	CV304664	single nucleotide variant	NM_000441.2(SLC26A4):c.*1610C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV000373237]\|Pendred syndrome [RCV000335058]	uncertain significance	7	107717056	107717056	Human	2	alternate_id
11648279	CV304680	single nucleotide variant	NM_000441.2(SLC26A4):c.*1640G>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV000281006]\|Pendred syndrome [RCV000338463]	uncertain significance	7	107717086	107717086	Human	2	alternate_id
11647334	CV304684	single nucleotide variant	NM_000441.2(SLC26A4):c.*2147G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV000275717]\|Pendred syndrome [RCV000367828]	uncertain significance	7	107717593	107717593	Human	2	alternate_id
11603268	CV309254	single nucleotide variant	NM_000441.1(SLC26A4):c.-186A>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV000298160]\|Pendred syndrome [RCV000334525]	uncertain significance	7	107660673	107660673	Human	2	alternate_id
11655580	CV309262	single nucleotide variant	NM_000441.2(SLC26A4):c.371T>A (p.Ile124Asn)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000326672]\|Pendred syndrome [RCV000383621]\|not provided [RCV004695985]	uncertain significance	7	107672204	107672204	Human	2	alternate_id
11653067	CV309273	single nucleotide variant	NM_000441.2(SLC26A4):c.1068C>T (p.Ile356=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000308834]\|Pendred syndrome [RCV000270063]\|not provided [RCV001404901]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	107689119	107689119	Human	2	alternate_id
11612196	CV309281	single nucleotide variant	NM_000441.2(SLC26A4):c.*69C>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV000404987]\|Pendred syndrome [RCV000368029]\|not provided [RCV001513268]	benign\|uncertain significance	7	107715515	107715515	Human	2	alternate_id
11599344	CV309287	single nucleotide variant	NM_000441.2(SLC26A4):c.*409A>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV000264781]\|Pendred syndrome [RCV000356638]	uncertain significance	7	107715855	107715855	Human	2	alternate_id
11662083	CV309294	single nucleotide variant	NM_000441.2(SLC26A4):c.*618A>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV000382539]\|Pendred syndrome [RCV000290474]	uncertain significance	7	107716064	107716064	Human	2	alternate_id
11607820	CV309295	single nucleotide variant	NM_000441.2(SLC26A4):c.*780T>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV000347736]\|Pendred syndrome [RCV000393596]	uncertain significance	7	107716226	107716226	Human	2	alternate_id
11608722	CV309297	single nucleotide variant	NM_000441.2(SLC26A4):c.*1059T>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV000358746]\|Pendred syndrome [RCV000302020]	uncertain significance	7	107716505	107716505	Human	2	alternate_id
11612312	CV309304	single nucleotide variant	NM_000441.2(SLC26A4):c.*1797G>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV000406812]\|Pendred syndrome [RCV000303741]	benign\|likely benign	7	107717243	107717243	Human	2	alternate_id
11609710	CV309451	single nucleotide variant	NM_000441.2(SLC26A4):c.872G>A (p.Arg291Gln)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000371745]\|Pendred syndrome [RCV000279725]\|not provided [RCV001567796]	uncertain significance	7	107683308	107683308	Human	2	alternate_id
11656889	CV309452	single nucleotide variant	NM_000441.2(SLC26A4):c.887T>A (p.Ile296Asn)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000337054]\|Pendred syndrome [RCV000408168]	uncertain significance	7	107683323	107683323	Human	2	alternate_id
11661598	CV309453	single nucleotide variant	NM_000441.2(SLC26A4):c.2018T>G (p.Val673Gly)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000378253]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005044581]\|Pendred syndrome [RCV000286214]\|not provided [RCV001584082]	likely pathogenic\|uncertain significance	7	107702041	107702041	Human	2	alternate_id
11607454	CV309457	single nucleotide variant	NM_000441.2(SLC26A4):c.2135A>G (p.Asn712Ser)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000343520]\|Inborn genetic diseases [RCV003168553]\|Pendred syndrome [RCV000391133]	uncertain significance	7	107710099	107710099	Human	3	alternate_id
11604942	CV309458	single nucleotide variant	NM_000441.2(SLC26A4):c.*239C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV000314500]\|Pendred syndrome [RCV000353085]\|not provided [RCV004695986]	conflicting interpretations of pathogenicity\|uncertain significance	7	107715685	107715685	Human	2	alternate_id
11598844	CV309459	single nucleotide variant	NM_000441.2(SLC26A4):c.*343C>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV000260546]\|Pendred syndrome [RCV000318166]	uncertain significance	7	107715789	107715789	Human	2	alternate_id
11602885	CV309464	single nucleotide variant	NM_000441.2(SLC26A4):c.*791A>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV000294981]\|Pendred syndrome [RCV000352230]	uncertain significance	7	107716237	107716237	Human	2	alternate_id
405700727	CV3224985	single nucleotide variant	NM_000441.2(SLC26A4):c.164G>C (p.Ser55Thr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003989269]	uncertain significance	7	107661805	107661805	Human	1	alternate_id
405726150	CV3235138	single nucleotide variant	NM_000441.2(SLC26A4):c.1149+1G>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV005052890]\|Rare genetic deafness [RCV004018169]	pathogenic\|likely pathogenic	7	107689201	107689201	Human	1	alternate_id
405854617	CV3392487	single nucleotide variant	NM_000441.2(SLC26A4):c.1264-6T>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV004527507]	likely pathogenic	7	107694397	107694397	Human	1	alternate_id
405854618	CV3392488	single nucleotide variant	NM_000441.2(SLC26A4):c.304+941C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV004527508]	pathogenic	7	107664376	107664376	Human	1	alternate_id
405854494	CV3393089	single nucleotide variant	NM_000441.2(SLC26A4):c.419C>T (p.Pro140Leu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005040691]\|not provided [RCV004697346]\|not specified [RCV004527246]	likely pathogenic\|uncertain significance	7	107674167	107674167	Human	2	alternate_id
405869360	CV3397757	single nucleotide variant	NM_000441.2(SLC26A4):c.2089+3A>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV004566508]	likely pathogenic	7	107704388	107704388	Human	1	alternate_id
405869762	CV3399484	single nucleotide variant	NM_000441.2(SLC26A4):c.1544+1G>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV004573629]	likely pathogenic	7	107696040	107696040	Human	1	alternate_id
405869763	CV3399485	deletion	NM_000441.2(SLC26A4):c.508_509del (p.Val170fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV004573630]	likely pathogenic	7	107674255	107674256	Human	1	alternate_id
405869764	CV3399486	deletion	NM_000441.2(SLC26A4):c.1097_1098del (p.Ser366fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV004573631]	likely pathogenic	7	107689148	107689149	Human	1	alternate_id
405869765	CV3399487	single nucleotide variant	NM_000441.2(SLC26A4):c.1264G>A (p.Val422Ile)	Autosomal recessive nonsyndromic hearing loss 4 [RCV004573632]	likely pathogenic	7	107694403	107694403	Human	1	alternate_id
405869766	CV3399488	single nucleotide variant	NM_000441.2(SLC26A4):c.679G>C (p.Ala227Pro)	Autosomal recessive nonsyndromic hearing loss 4 [RCV004573633]	pathogenic	7	107675023	107675023	Human	1	alternate_id
405869768	CV3399490	single nucleotide variant	NM_000441.2(SLC26A4):c.1553G>A (p.Trp518Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV004573635]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005040698]	pathogenic	7	107698050	107698050	Human	2	alternate_id
405869769	CV3399491	indel	NM_000441.2(SLC26A4):c.735_739delinsTGTTTCA (p.Lys245fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV004573636]	likely pathogenic	7	107675079	107675083	Human		alternate_id
405869770	CV3399492	duplication	NM_000441.2(SLC26A4):c.927dup (p.Ala310fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV004573637]	likely pathogenic	7	107683461	107683462	Human	1	alternate_id
405869771	CV3399493	single nucleotide variant	NM_000441.2(SLC26A4):c.601-2A>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV004573638]	likely pathogenic	7	107674943	107674943	Human	1	alternate_id
405869772	CV3399494	single nucleotide variant	NM_000441.2(SLC26A4):c.164+1G>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV004573639]	likely pathogenic	7	107661806	107661806	Human	1	alternate_id
407476373	CV3494800	single nucleotide variant	NM_000441.2(SLC26A4):c.1596T>A (p.Ser532Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005038773]\|Pendred syndrome [RCV004690701]	likely pathogenic	7	107698093	107698093	Human	2	alternate_id
408393961	CV3521650	insertion	NM_000441.2(SLC26A4):c.1340_1341insTCT (p.Lys447delinsAsnLeu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV004764448]	likely pathogenic	7	107694479	107694480	Human	1	alternate_id
596920448	CV3534652	deletion	NM_000441.2(SLC26A4):c.929del (p.Ala310fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV004782219]	likely pathogenic	7	107683465	107683465	Human	1	alternate_id
596928147	CV3541385	single nucleotide variant	NM_000441.2(SLC26A4):c.221G>A (p.Trp74Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV004797257]	pathogenic	7	107663352	107663352	Human	2	alternate_id
596928543	CV3541533	single nucleotide variant	NM_000441.2(SLC26A4):c.2030G>C (p.Arg677Pro)	Autosomal recessive nonsyndromic hearing loss 4 [RCV004797405]	uncertain significance	7	107702053	107702053	Human	2	alternate_id
12738540	CV357527	single nucleotide variant	NM_000441.2(SLC26A4):c.142G>T (p.Glu48Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003475968]\|Pendred syndrome [RCV000409402]\|not provided [RCV000797602]	pathogenic\|likely pathogenic	7	107661783	107661783	Human	2	alternate_id
12739384	CV357528	single nucleotide variant	NM_000441.2(SLC26A4):c.249G>A (p.Trp83Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003475955]\|Pendred syndrome [RCV000409492]\|not provided [RCV001071254]	pathogenic	7	107663380	107663380	Human	2	alternate_id
12740355	CV357529	single nucleotide variant	NM_000441.2(SLC26A4):c.281C>T (p.Thr94Ile)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000770857]\|Pendred syndrome [RCV000411778]\|not provided [RCV001850953]	pathogenic\|likely pathogenic	7	107663412	107663412	Human	2	alternate_id
12739845	CV357530	single nucleotide variant	NM_000441.2(SLC26A4):c.416-1G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV002481264]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV003475961]\|Pendred syndrome [RCV000410577]\|SLC26A4-related disorder [RCV004530498]\|not provided [RCV000579267]	pathogenic	7	107674163	107674163	Human	2	alternate_id
12740608	CV357531	single nucleotide variant	NM_000441.2(SLC26A4):c.600+2T>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV003475958]\|Pendred syndrome [RCV000412454]\|not provided [RCV002523863]	pathogenic\|likely pathogenic	7	107674350	107674350	Human	2	alternate_id
12739543	CV357534	duplication	NM_000441.2(SLC26A4):c.916dup (p.Val306fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001089561]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005033913]\|Pendred syndrome [RCV000409855]\|not provided [RCV000812506]	pathogenic\|likely pathogenic	7	107683351	107683352	Human	2	alternate_id
12739198	CV357535	single nucleotide variant	NM_000441.2(SLC26A4):c.918+2T>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV000770872]\|Pendred syndrome [RCV000409090]\|not provided [RCV001217246]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	7	107683356	107683356	Human	2	alternate_id
12738493	CV357536	single nucleotide variant	NM_000441.2(SLC26A4):c.1001+1G>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV003475939]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005033911]\|Pendred syndrome [RCV000411285]\|not provided [RCV000728208]	pathogenic\|likely pathogenic	7	107683538	107683538	Human	2	alternate_id
12738734	CV357537	single nucleotide variant	NM_000441.2(SLC26A4):c.1160C>T (p.Ala387Val)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003475951]\|Pendred syndrome [RCV000411792]\|not provided [RCV001210974]	pathogenic\|likely pathogenic	7	107690134	107690134	Human	2	alternate_id
12739914	CV357539	microsatellite	NM_000441.2(SLC26A4):c.1178TCT[1] (p.Phe394del)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003475947]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV004796162]\|Pendred syndrome [RCV000410744]\|not provided [RCV001202765]	pathogenic\|likely pathogenic	7	107690152	107690154	Human		alternate_id
12738692	CV357540	single nucleotide variant	NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000770861]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005044615]\|Pendred syndrome [RCV000411132]\|not provided [RCV000811142]	pathogenic\|likely pathogenic	7	107690199	107690199	Human	2	alternate_id
12738713	CV357541	single nucleotide variant	NM_000441.2(SLC26A4):c.1238A>G (p.Gln413Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV004567873]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV004796160]\|Hearing loss, autosomal recessive [RCV001291348]\|Pendred syndrome [RCV000411469]\|not provided [RCV001216381]	pathogenic\|likely pathogenic	7	107690212	107690212	Human	4	alternate_id
12740180	CV357543	single nucleotide variant	NM_000441.2(SLC26A4):c.1263+1G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV003475965]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005033918]\|Pendred syndrome [RCV000411368]\|not provided [RCV001861391]	pathogenic\|likely pathogenic	7	107690238	107690238	Human	2	alternate_id
12739173	CV357544	single nucleotide variant	NM_000441.2(SLC26A4):c.1263+1G>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV003475962]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005033916]\|Pendred syndrome [RCV000409041]\|not provided [RCV002523867]	pathogenic\|likely pathogenic	7	107690238	107690238	Human	2	alternate_id
12738533	CV357545	single nucleotide variant	NM_000441.2(SLC26A4):c.1341+1G>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV001785608]\|Pendred syndrome [RCV000409312]\|not provided [RCV000822870]	pathogenic	7	107694481	107694481	Human	2	alternate_id
12739760	CV357549	single nucleotide variant	NM_000441.2(SLC26A4):c.1595G>T (p.Ser532Ile)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003475938]\|Pendred syndrome [RCV000410361]\|not provided [RCV001386694]	pathogenic\|likely pathogenic	7	107698092	107698092	Human	2	alternate_id
12739860	CV357553	single nucleotide variant	NM_000441.2(SLC26A4):c.2228T>A (p.Leu743Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000515685]\|Pendred syndrome [RCV000410617]\|not provided [RCV005090653]	pathogenic	7	107710192	107710192	Human	2	alternate_id
12738553	CV357554	single nucleotide variant	NM_000441.2(SLC26A4):c.2319+1G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV003475964]\|Pendred syndrome [RCV000409482]	pathogenic\|likely pathogenic	7	107712623	107712623	Human	2	alternate_id
12837542	CV364538	single nucleotide variant	NM_002241.5(KCNJ10):c.1137C>G (p.Val379=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002488879]\|EAST syndrome [RCV000546177]\|Inborn genetic diseases [RCV002314146]\|not provided [RCV001718837]	likely benign	1	160041396	160041396	Human	4	alternate_id
12837948	CV364563	single nucleotide variant	NM_002241.5(KCNJ10):c.219G>A (p.Ala73=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001097717]\|EAST syndrome [RCV001087546]\|Inborn genetic diseases [RCV002314145]\|KCNJ10-related disorder [RCV004544736]\|not provided [RCV000727079]\|not specified [RCV000426056]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	160042314	160042314	Human	3	alternate_id
12840910	CV364616	single nucleotide variant	NM_002241.5(KCNJ10):c.147C>T (p.Phe49=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005044643]\|not specified [RCV000431607]	likely benign\|uncertain significance	1	160042386	160042386	Human	2	alternate_id
12835071	CV364622	single nucleotide variant	NM_002241.5(KCNJ10):c.21G>A (p.Val7=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001099504]\|EAST syndrome [RCV001099503]\|not provided [RCV001698281]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	160042512	160042512	Human	2	alternate_id
597629764	CV3687551	single nucleotide variant	NM_002241.5(KCNJ10):c.188A>C (p.Gln63Pro)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005040857]\|Inborn genetic diseases [RCV004989793]	uncertain significance	1	160042345	160042345	Human	3	alternate_id
12849508	CV369125	single nucleotide variant	NM_000441.2(SLC26A4):c.1544+5G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV004796178]\|not provided [RCV000431089]	likely pathogenic	7	107696044	107696044	Human	2	alternate_id
12848775	CV369418	single nucleotide variant	NM_000441.2(SLC26A4):c.1265T>C (p.Val422Ala)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001162715]\|Pendred syndrome [RCV001162714]\|not provided [RCV000417941]\|not specified [RCV001731673]	likely pathogenic\|uncertain significance	7	107694404	107694404	Human	2	alternate_id
597686474	CV3718731	microsatellite	NM_000441.2(SLC26A4):c.202_203del (p.Leu68fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005045900]	likely pathogenic	7	107663331	107663332	Human		alternate_id
597686492	CV3718732	single nucleotide variant	NM_000441.2(SLC26A4):c.305-1G>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV005045902]	likely pathogenic	7	107672137	107672137	Human	2	alternate_id
597686511	CV3718734	deletion	NM_000441.2(SLC26A4):c.598del (p.Gln200fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005045904]	likely pathogenic	7	107674346	107674346	Human	2	alternate_id
597701119	CV3718736	single nucleotide variant	NM_000441.2(SLC26A4):c.661G>T (p.Gly221Cys)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005033515]	uncertain significance	7	107675005	107675005	Human	2	alternate_id
597686523	CV3718737	single nucleotide variant	NM_000441.2(SLC26A4):c.846T>A (p.Cys282Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005045905]	likely pathogenic	7	107683282	107683282	Human	2	alternate_id
597701135	CV3718739	indel	NM_000441.2(SLC26A4):c.991_1001+7delinsCCCCA	Autosomal recessive nonsyndromic hearing loss 4 [RCV005033517]	likely pathogenic	7	107683527	107683544	Human		alternate_id
597701145	CV3718740	deletion	NM_000441.2(SLC26A4):c.1136_1148del (p.Ile379fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005033518]	likely pathogenic	7	107689183	107689195	Human	2	alternate_id
597701161	CV3718742	single nucleotide variant	NM_000441.2(SLC26A4):c.1672A>C (p.Asn558His)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005033520]	likely pathogenic	7	107700140	107700140	Human	2	alternate_id
597701169	CV3718743	single nucleotide variant	NM_000441.2(SLC26A4):c.1803+1G>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV005033521]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005416783]	likely pathogenic	7	107701197	107701197	Human	2	alternate_id
597701176	CV3718744	single nucleotide variant	NM_000441.2(SLC26A4):c.1873G>T (p.Glu625Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005033522]	pathogenic	7	107701896	107701896	Human	2	alternate_id
597701192	CV3718745	deletion	NM_000441.2(SLC26A4):c.1956del (p.Val653fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005033524]	likely pathogenic	7	107701977	107701977	Human	2	alternate_id
597701200	CV3718746	duplication	NM_000441.2(SLC26A4):c.2027dup (p.Arg677fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005033525]	pathogenic	7	107702049	107702050	Human	2	alternate_id
597686542	CV3718747	single nucleotide variant	NM_000441.2(SLC26A4):c.2035-1G>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV005045907]	likely pathogenic	7	107704330	107704330	Human	2	alternate_id
597724087	CV3723541	single nucleotide variant	NM_002241.5(KCNJ10):c.1104G>C (p.Glu368Asp)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005049969]	uncertain significance	1	160041429	160041429	Human	2	alternate_id
597673632	CV3723575	single nucleotide variant	NM_002241.5(KCNJ10):c.1013C>G (p.Ser338Cys)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005044261]	uncertain significance	1	160041520	160041520	Human	2	alternate_id
597673674	CV3723577	duplication	NM_002241.5(KCNJ10):c.979_982dup (p.Ser328delinsIleTer)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005044265]	uncertain significance	1	160041550	160041551	Human	2	alternate_id
597721795	CV3723586	single nucleotide variant	NM_002241.5(KCNJ10):c.934A>C (p.Thr312Pro)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005049972]	uncertain significance	1	160041599	160041599	Human	2	alternate_id
597673706	CV3723591	single nucleotide variant	NM_002241.5(KCNJ10):c.890G>A (p.Arg297His)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005044268]	uncertain significance	1	160041643	160041643	Human	2	alternate_id
597721810	CV3723596	single nucleotide variant	NM_002241.5(KCNJ10):c.885G>T (p.Gln295His)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005049973]	uncertain significance	1	160041648	160041648	Human	2	alternate_id
597721822	CV3723603	single nucleotide variant	NM_002241.5(KCNJ10):c.763T>A (p.Phe255Ile)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005049974]	uncertain significance	1	160041770	160041770	Human	2	alternate_id
597721835	CV3723610	single nucleotide variant	NM_002241.5(KCNJ10):c.698A>C (p.Gln233Pro)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005049975]	uncertain significance	1	160041835	160041835	Human	2	alternate_id
597674543	CV3723620	single nucleotide variant	NM_002241.5(KCNJ10):c.571A>G (p.Asn191Asp)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005044271]	uncertain significance	1	160041962	160041962	Human	2	alternate_id
597674572	CV3723655	single nucleotide variant	NM_002241.5(KCNJ10):c.163C>G (p.Leu55Val)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005044278]	uncertain significance	1	160042370	160042370	Human	2	alternate_id
597674584	CV3723665	single nucleotide variant	NM_002241.5(KCNJ10):c.121A>G (p.Met41Val)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005044279]	uncertain significance	1	160042412	160042412	Human	2	alternate_id
597673854	CV3723683	single nucleotide variant	NM_002241.5(KCNJ10):c.63G>A (p.Met21Ile)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005044289]	uncertain significance	1	160042470	160042470	Human	2	alternate_id
597673976	CV3723692	single nucleotide variant	NM_002241.5(KCNJ10):c.18G>T (p.Lys6Asn)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005044301]	uncertain significance	1	160042515	160042515	Human	2	alternate_id
597723937	CV3734329	single nucleotide variant	NM_000441.2(SLC26A4):c.1102G>C (p.Gly368Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053636]	pathogenic	7	107689153	107689153	Human	1	alternate_id
597723941	CV3734330	insertion	NM_000441.2(SLC26A4):c.1241_1242insAG (p.Ser415fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053637]	likely pathogenic	7	107690215	107690216	Human	1	alternate_id
597723944	CV3734331	deletion	NM_000441.2(SLC26A4):c.1244_1245del (p.Ser415fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053638]	likely pathogenic	7	107690218	107690219	Human	1	alternate_id
597723948	CV3734332	deletion	NM_000441.2(SLC26A4):c.1288del (p.Ile430fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053639]	likely pathogenic	7	107694427	107694427	Human	1	alternate_id
597723952	CV3734333	duplication	NM_000441.2(SLC26A4):c.1395dup (p.Cys466fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053640]	likely pathogenic	7	107694673	107694674	Human	1	alternate_id
597723956	CV3734334	duplication	NM_000441.2(SLC26A4):c.2219dup (p.Ser741fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053641]	likely pathogenic	7	107710181	107710182	Human	1	alternate_id
597723966	CV3734336	duplication	NM_000441.2(SLC26A4):c.42dup (p.Glu15fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053643]	likely pathogenic	7	107661679	107661680	Human	1	alternate_id
597723971	CV3734337	duplication	NM_000441.2(SLC26A4):c.918+1dup	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053644]	likely pathogenic	7	107683353	107683354	Human	1	alternate_id
597723972	CV3734338	single nucleotide variant	NM_000441.2(SLC26A4):c.1001+3G>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053645]	likely pathogenic	7	107683540	107683540	Human	1	alternate_id
597723977	CV3734339	single nucleotide variant	NM_000441.2(SLC26A4):c.100C>T (p.Gln34Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053646]	pathogenic	7	107661741	107661741	Human	1	alternate_id
597723978	CV3734340	single nucleotide variant	NM_000441.2(SLC26A4):c.1097C>G (p.Ser366Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053647]	pathogenic	7	107689148	107689148	Human	1	alternate_id
597723981	CV3734341	deletion	NM_000441.2(SLC26A4):c.1103del (p.Gly368fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053648]	pathogenic	7	107689153	107689153	Human	1	alternate_id
597723987	CV3734342	single nucleotide variant	NM_000441.2(SLC26A4):c.1141G>A (p.Gly381Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053649]	pathogenic	7	107689192	107689192	Human	1	alternate_id
597723992	CV3734343	single nucleotide variant	NM_000441.2(SLC26A4):c.1207G>T (p.Ala403Ser)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053650]	likely pathogenic	7	107690181	107690181	Human	1	alternate_id
597723996	CV3734344	single nucleotide variant	NM_000441.2(SLC26A4):c.1208C>T (p.Ala403Val)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053651]	likely pathogenic	7	107690182	107690182	Human	1	alternate_id
597724001	CV3734345	single nucleotide variant	NM_000441.2(SLC26A4):c.1228A>C (p.Thr410Pro)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053652]	likely pathogenic	7	107690202	107690202	Human	1	alternate_id
597724005	CV3734346	deletion	NM_000441.2(SLC26A4):c.1231del (p.Ala411fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053653]	pathogenic	7	107690204	107690204	Human	1	alternate_id
597724008	CV3734347	single nucleotide variant	NM_000441.2(SLC26A4):c.1264-1G>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053654]	pathogenic	7	107694402	107694402	Human	1	alternate_id
597724012	CV3734348	single nucleotide variant	NM_000441.2(SLC26A4):c.1279T>C (p.Ser427Pro)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053655]	pathogenic	7	107694418	107694418	Human	1	alternate_id
597724016	CV3734349	deletion	NM_000441.2(SLC26A4):c.1291del (p.Ile430_Val431insTer)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053656]	pathogenic	7	107694430	107694430	Human	1	alternate_id
597724020	CV3734350	single nucleotide variant	NM_000441.2(SLC26A4):c.1335G>C (p.Leu445Phe)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053657]	likely pathogenic	7	107694474	107694474	Human	1	alternate_id
597724025	CV3734351	single nucleotide variant	NM_000441.2(SLC26A4):c.1341+2T>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053658]	pathogenic	7	107694482	107694482	Human	1	alternate_id
597724028	CV3734352	single nucleotide variant	NM_000441.2(SLC26A4):c.1352C>A (p.Ala451Glu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053659]	likely pathogenic	7	107694631	107694631	Human	1	alternate_id
597724031	CV3734353	single nucleotide variant	NM_000441.2(SLC26A4):c.1437+5G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053660]	pathogenic	7	107694721	107694721	Human	1	alternate_id
597724034	CV3734354	deletion	NM_000441.2(SLC26A4):c.1544delT (p.Pro516fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053661]	pathogenic	7	107696038	107696038	Human	1	alternate_id
597724040	CV3734356	single nucleotide variant	NM_000441.2(SLC26A4):c.1546C>G (p.Pro516Ala)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053663]	likely pathogenic	7	107698043	107698043	Human	1	alternate_id
597724045	CV3734357	single nucleotide variant	NM_000441.2(SLC26A4):c.1552T>C (p.Trp518Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053664]	likely pathogenic	7	107698049	107698049	Human	1	alternate_id
597724048	CV3734358	single nucleotide variant	NM_000441.2(SLC26A4):c.1591A>C (p.Lys531Gln)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053665]	pathogenic	7	107698088	107698088	Human	1	alternate_id
597724051	CV3734359	deletion	NM_000441.2(SLC26A4):c.1594del (p.Ser532fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053666]	pathogenic	7	107698088	107698088	Human	1	alternate_id
597724056	CV3734360	single nucleotide variant	NM_000441.2(SLC26A4):c.1606T>A (p.Tyr536Asn)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053667]	likely pathogenic	7	107698103	107698103	Human	1	alternate_id
597724058	CV3734361	single nucleotide variant	NM_000441.2(SLC26A4):c.1645A>G (p.Arg549Gly)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053668]	likely pathogenic	7	107700113	107700113	Human	1	alternate_id
597724062	CV3734362	deletion	NM_000441.2(SLC26A4):c.1703_1707+6del	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053669]	pathogenic	7	107700167	107700177	Human	1	alternate_id
597724066	CV3734363	single nucleotide variant	NM_000441.2(SLC26A4):c.1708-2A>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053670]	pathogenic	7	107701099	107701099	Human	1	alternate_id
597724070	CV3734364	single nucleotide variant	NM_000441.2(SLC26A4):c.175A>T (p.Lys59Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053671]	likely pathogenic	7	107663306	107663306	Human	1	alternate_id
597724073	CV3734365	deletion	NM_000441.2(SLC26A4):c.1817del (p.Ser606fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053672]	pathogenic	7	107701840	107701840	Human	1	alternate_id
597724083	CV3734368	deletion	NM_000441.2(SLC26A4):c.1835_1838del (p.Asn612fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053675]	pathogenic	7	107701856	107701859	Human	1	alternate_id
597724086	CV3734369	single nucleotide variant	NM_000441.2(SLC26A4):c.1979T>A (p.Leu660His)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053676]	likely pathogenic	7	107702002	107702002	Human	1	alternate_id
597724093	CV3734370	single nucleotide variant	NM_000441.2(SLC26A4):c.1984T>C (p.Cys662Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053677]	likely pathogenic	7	107702007	107702007	Human	1	alternate_id
597724096	CV3734371	single nucleotide variant	NM_000441.2(SLC26A4):c.2035-1G>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053678]	likely pathogenic	7	107704330	107704330	Human	1	alternate_id
597724098	CV3734372	deletion	NM_000441.2(SLC26A4):c.2035-8_2035-2del	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053679]	pathogenic	7	107704323	107704329	Human	1	alternate_id
597724102	CV3734373	single nucleotide variant	NM_000441.2(SLC26A4):c.2116T>C (p.Cys706Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053680]	pathogenic	7	107710080	107710080	Human	1	alternate_id
597724105	CV3734374	single nucleotide variant	NM_000441.2(SLC26A4):c.2128G>T (p.Asp710Tyr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053681]	pathogenic	7	107710092	107710092	Human	1	alternate_id
597724109	CV3734375	single nucleotide variant	NM_000441.2(SLC26A4):c.2147A>T (p.Asp716Val)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053682]	likely pathogenic	7	107710111	107710111	Human	1	alternate_id
597724113	CV3734376	single nucleotide variant	NM_000441.2(SLC26A4):c.215T>A (p.Leu72Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053683]	pathogenic	7	107663346	107663346	Human	1	alternate_id
597724122	CV3734378	microsatellite	NM_000441.2(SLC26A4):c.2205_2206del (p.Gln736fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053685]	pathogenic	7	107710167	107710168	Human		alternate_id
597724126	CV3734379	deletion	NM_000441.2(SLC26A4):c.2233del (p.Thr745fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053686]	pathogenic	7	107710195	107710195	Human	1	alternate_id
597724132	CV3734380	single nucleotide variant	NM_000441.2(SLC26A4):c.2235+2T>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053687]	pathogenic	7	107710201	107710201	Human	1	alternate_id
597724135	CV3734381	single nucleotide variant	NM_000441.2(SLC26A4):c.234C>G (p.Tyr78Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053688]	pathogenic	7	107663365	107663365	Human	1	alternate_id
597724140	CV3734382	single nucleotide variant	NM_000441.2(SLC26A4):c.305G>A (p.Gly102Glu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053689]	likely pathogenic	7	107672138	107672138	Human	1	alternate_id
597724145	CV3734383	single nucleotide variant	NM_000441.2(SLC26A4):c.325G>C (p.Ala109Pro)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053690]	pathogenic	7	107672158	107672158	Human	1	alternate_id
597724149	CV3734384	deletion	NM_000441.2(SLC26A4):c.327del (p.Ala110fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053691]	pathogenic	7	107672160	107672160	Human	1	alternate_id
597724153	CV3734385	single nucleotide variant	NM_000441.2(SLC26A4):c.-3-2A>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053692]	pathogenic	7	107661637	107661637	Human	1	alternate_id
597724156	CV3734386	single nucleotide variant	NM_000441.2(SLC26A4):c.392G>C (p.Gly131Ala)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053693]	likely pathogenic	7	107672225	107672225	Human	1	alternate_id
597724161	CV3734387	single nucleotide variant	NM_000441.2(SLC26A4):c.404A>C (p.His135Pro)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053694]	likely pathogenic	7	107672237	107672237	Human	1	alternate_id
597724168	CV3734389	deletion	NM_000441.2(SLC26A4):c.477del (p.Glu159fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053696]	pathogenic	7	107674224	107674224	Human	1	alternate_id
597724173	CV3734390	single nucleotide variant	NM_000441.2(SLC26A4):c.502G>T (p.Gly168Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053697]	pathogenic	7	107674250	107674250	Human	1	alternate_id
597724177	CV3734391	single nucleotide variant	NM_000441.2(SLC26A4):c.512T>G (p.Leu171Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053698]	pathogenic	7	107674260	107674260	Human	1	alternate_id
597724180	CV3734392	single nucleotide variant	NM_000441.2(SLC26A4):c.642C>A (p.Tyr214Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053699]	pathogenic	7	107674986	107674986	Human	1	alternate_id
597724183	CV3734393	deletion	NM_000441.2(SLC26A4):c.750del (p.Leu251fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053700]	pathogenic	7	107675093	107675093	Human	1	alternate_id
597724186	CV3734394	single nucleotide variant	NM_000441.2(SLC26A4):c.765+4A>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053701]	pathogenic	7	107675113	107675113	Human	1	alternate_id
597724189	CV3734395	duplication	NM_000441.2(SLC26A4):c.788_814dup (p.Asp271_Phe272insTyrIleGlyAspThrAsnLeuAlaAsp)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053702]	likely pathogenic	7	107683223	107683224	Human	1	alternate_id
597724193	CV3734396	insertion	NM_000441.2(SLC26A4):c.798_799insTTCAATC (p.Thr267fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053703]	pathogenic	7	107683234	107683235	Human	1	alternate_id
597724197	CV3734397	single nucleotide variant	NM_000441.2(SLC26A4):c.79T>G (p.Tyr27Asp)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053704]	likely pathogenic	7	107661720	107661720	Human	1	alternate_id
597724204	CV3734399	single nucleotide variant	NM_000441.2(SLC26A4):c.811G>T (p.Asp271Tyr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053706]	likely pathogenic	7	107683247	107683247	Human	1	alternate_id
597724207	CV3734400	single nucleotide variant	NM_000441.2(SLC26A4):c.844T>C (p.Cys282Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053707]	likely pathogenic	7	107683280	107683280	Human	1	alternate_id
597724211	CV3734401	single nucleotide variant	NM_000441.2(SLC26A4):c.85G>A (p.Glu29Lys)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053708]	likely pathogenic	7	107661726	107661726	Human	1	alternate_id
597724214	CV3734402	microsatellite	NM_000441.2(SLC26A4):c.917_918dup (p.Thr307Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053709]	pathogenic	7	107683350	107683351	Human		alternate_id
597724217	CV3734403	single nucleotide variant	NM_000441.2(SLC26A4):c.918+5G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053710]	pathogenic	7	107683359	107683359	Human	1	alternate_id
597724221	CV3734404	deletion	NM_000441.2(SLC26A4):c.965del (p.Asn322fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053711]	pathogenic	7	107683495	107683495	Human	1	alternate_id
597724224	CV3734405	single nucleotide variant	NM_000441.2(SLC26A4):c.969C>A (p.Tyr323Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053712]	pathogenic	7	107683505	107683505	Human	1	alternate_id
597724228	CV3734406	deletion	NM_000441.2(SLC26A4):c.976_977del (p.Gly326fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053713]	likely pathogenic	7	107683512	107683513	Human	1	alternate_id
597724231	CV3734407	single nucleotide variant	NM_000441.2(SLC26A4):c.983T>A (p.Val328Asp)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005053714]	pathogenic	7	107683519	107683519	Human	1	alternate_id
9688956	CV38434	single nucleotide variant	NM_000441.2(SLC26A4):c.1468A>C (p.Ile490Leu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001162717]\|Pendred syndrome [RCV000673746]\|not provided [RCV000938882]\|not specified [RCV000154348]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	107695963	107695963	Human	2	alternate_id
12858976	CV389229	single nucleotide variant	NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001004649]\|Pendred syndrome [RCV000454307]\|not provided [RCV002522746]	pathogenic\|likely pathogenic\|affects	7	107704344	107704344	Human	2	alternate_id
12890781	CV390841	single nucleotide variant	NM_002241.5(KCNJ10):c.1124G>A (p.Arg375His)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005049561]\|EAST syndrome [RCV000475305]\|Inborn genetic diseases [RCV002313178]	uncertain significance	1	160041409	160041409	Human	3	alternate_id
12881320	CV390845	single nucleotide variant	NM_002241.5(KCNJ10):c.1048G>A (p.Gly350Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005004175]\|EAST syndrome [RCV000457626]	uncertain significance	1	160041485	160041485	Human	2	alternate_id
12887736	CV390846	single nucleotide variant	NM_002241.5(KCNJ10):c.305C>T (p.Pro102Leu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005044694]\|EAST syndrome [RCV000469596]\|not provided [RCV000520403]	likely benign\|uncertain significance	1	160042228	160042228	Human	2	alternate_id
598177785	CV4008344	single nucleotide variant	NM_000441.2(SLC26A4):c.1681G>T (p.Gly561Cys)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005393863]	uncertain significance	7	107700149	107700149	Human	2	alternate_id
598177793	CV4008345	single nucleotide variant	NM_000441.2(SLC26A4):c.1948G>A (p.Val650Ile)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005393864]	uncertain significance	7	107701971	107701971	Human	2	alternate_id
598177799	CV4008346	single nucleotide variant	NM_000441.2(SLC26A4):c.2314G>T (p.Asp772Tyr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005393865]	uncertain significance	7	107712617	107712617	Human	2	alternate_id
12897283	CV404601	single nucleotide variant	NM_000441.2(SLC26A4):c.296C>G (p.Thr99Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000460029]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005044707]	pathogenic\|likely pathogenic\|affects	7	107663427	107663427	Human	2	alternate_id
12899798	CV406952	single nucleotide variant	NM_000441.2(SLC26A4):c.535G>A (p.Ala179Thr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001785633]\|Pendred syndrome [RCV001785632]\|not provided [RCV000480978]	conflicting interpretations of pathogenicity\|uncertain significance	7	107674283	107674283	Human	2	alternate_id
12913986	CV421612	single nucleotide variant	NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002461249]\|Pendred syndrome [RCV000673206]\|not provided [RCV000494508]	pathogenic\|likely pathogenic\|uncertain significance	7	107690236	107690236	Human	2	alternate_id
13216276	CV427657	single nucleotide variant	NM_002241.5(KCNJ10):c.300C>A (p.Asp100Glu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005044754]\|EAST syndrome [RCV000558913]\|Inborn genetic diseases [RCV002438220]\|not provided [RCV001550181]\|not specified [RCV000503569]	benign\|likely benign\|uncertain significance	1	160042233	160042233	Human	3	alternate_id
13213501	CV427659	single nucleotide variant	NM_002241.5(KCNJ10):c.10G>A (p.Val4Ile)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005044753]\|EAST syndrome [RCV001865609]\|Inborn genetic diseases [RCV003159628]\|not specified [RCV000500028]	uncertain significance	1	160042523	160042523	Human	3	alternate_id
13436264	CV433920	single nucleotide variant	NM_000441.2(SLC26A4):c.796G>A (p.Asp266Asn)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001004630]\|Pendred syndrome [RCV001785650]\|not specified [RCV000506867]	conflicting interpretations of pathogenicity\|uncertain significance\|other	7	107683232	107683232	Human	2	alternate_id
13462259	CV439899	single nucleotide variant	NM_000441.2(SLC26A4):c.82A>G (p.Ser28Gly)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000515700]	pathogenic	7	107661723	107661723	Human	1	alternate_id
13462292	CV439900	single nucleotide variant	NM_000441.2(SLC26A4):c.226C>T (p.Pro76Ser)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000515721]	pathogenic	7	107663357	107663357	Human	1	alternate_id
13462207	CV439901	single nucleotide variant	NM_000441.2(SLC26A4):c.601-1G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV000515658]\|not provided [RCV001857878]	pathogenic	7	107674944	107674944	Human	1	alternate_id
13462286	CV439902	single nucleotide variant	NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000515717]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005034057]\|Pendred syndrome [RCV001835832]\|not provided [RCV000657916]	pathogenic	7	107690148	107690148	Human	2	alternate_id
13462298	CV439903	single nucleotide variant	NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000515726]\|Pendred syndrome [RCV000668348]	pathogenic\|likely pathogenic	7	107698076	107698076	Human	2	alternate_id
13463124	CV439904	duplication	NM_000441.2(SLC26A4):c.1651dup (p.Ser551fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000515730]\|not provided [RCV003558435]	pathogenic	7	107700115	107700116	Human	1	alternate_id
13463108	CV439905	single nucleotide variant	NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000515668]\|Pendred syndrome [RCV000670962]\|not provided [RCV001851413]\|not specified [RCV001731741]	pathogenic\|likely pathogenic	7	107700135	107700135	Human	2	alternate_id
13463115	CV439906	single nucleotide variant	NM_000441.2(SLC26A4):c.1707+5G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV000515708]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV004796217]\|Pendred syndrome [RCV000669310]\|not provided [RCV000657917]	pathogenic	7	107700180	107700180	Human	2	alternate_id
13463111	CV439907	deletion	NM_000441.2(SLC26A4):c.1708-27_1708-11del	Autosomal recessive nonsyndromic hearing loss 4 [RCV000515681]	likely pathogenic	7	107701069	107701085	Human	1	alternate_id
13463119	CV439908	single nucleotide variant	NM_000441.2(SLC26A4):c.2007C>A (p.Asp669Glu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000515723]	pathogenic\|likely pathogenic	7	107702030	107702030	Human	1	alternate_id
13462192	CV439909	single nucleotide variant	NM_000441.2(SLC26A4):c.2074T>C (p.Phe692Leu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000515647]	pathogenic	7	107704370	107704370	Human	1	alternate_id
13462212	CV439910	duplication	NM_000441.2(SLC26A4):c.2106_2110dup (p.Glu704fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000515662]	pathogenic	7	107710069	107710070	Human	1	alternate_id
13478578	CV440361	single nucleotide variant	NM_002241.5(KCNJ10):c.114C>T (p.Asn38=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002496999]\|EAST syndrome [RCV001406815]\|Inborn genetic diseases [RCV002316469]\|not provided [RCV000516719]\|not specified [RCV001821452]	likely benign	1	160042419	160042419	Human	4	alternate_id
13486542	CV442645	single nucleotide variant	NM_002241.5(KCNJ10):c.1051G>A (p.Asp351Asn)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000764988]\|EAST syndrome [RCV001489554]\|Inborn genetic diseases [RCV004629231]\|Intellectual disability [RCV001252024]\|not provided [RCV000522945]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	160041482	160041482	Human	6	alternate_id
13490487	CV447211	single nucleotide variant	NM_002241.5(KCNJ10):c.1102G>C (p.Glu368Gln)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002483460]\|EAST syndrome [RCV000533552]\|not provided [RCV002266985]	uncertain significance	1	160041431	160041431	Human	3	alternate_id
13480222	CV447215	single nucleotide variant	NM_002241.5(KCNJ10):c.689G>A (p.Arg230Gln)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002497161]\|EAST syndrome [RCV000528433]\|Inborn genetic diseases [RCV004024133]	uncertain significance	1	160041844	160041844	Human	4	alternate_id
13473288	CV447217	single nucleotide variant	NM_002241.5(KCNJ10):c.39T>A (p.Thr13=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002491071]\|EAST syndrome [RCV001395315]\|Inborn genetic diseases [RCV002316564]\|not provided [RCV000547741]	likely benign	1	160042494	160042494	Human	4	alternate_id
13493770	CV447318	single nucleotide variant	NM_002241.5(KCNJ10):c.133G>A (p.Ala45Thr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002491070]\|EAST syndrome [RCV000558426]\|Inborn genetic diseases [RCV002384185]\|KCNJ10-related disorder [RCV004538029]\|not provided [RCV001574872]	uncertain significance	1	160042400	160042400	Human	4	alternate_id
13523071	CV493530	single nucleotide variant	NM_000441.2(SLC26A4):c.236G>A (p.Arg79Gln)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001785676]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV002483650]\|Pendred syndrome [RCV000665694]\|not provided [RCV000592539]	uncertain significance	7	107663367	107663367	Human	2	alternate_id
13521204	CV495544	single nucleotide variant	NM_000441.2(SLC26A4):c.946G>T (p.Gly316Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003471968]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005034184]\|Pendred syndrome [RCV001783104]\|not provided [RCV000599267]	pathogenic	7	107683482	107683482	Human	2	alternate_id
13538458	CV496881	single nucleotide variant	NM_000441.2(SLC26A4):c.128G>A (p.Arg43His)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001785682]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV002506451]\|Pendred syndrome [RCV000664751]\|not provided [RCV002529307]\|not specified [RCV000611863]	uncertain significance	7	107661769	107661769	Human	2	alternate_id
13536355	CV496919	single nucleotide variant	NM_000441.2(SLC26A4):c.415+4A>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV001785679]\|Pendred syndrome [RCV000673210]\|not provided [RCV002298703]\|not specified [RCV000608886]	uncertain significance	7	107672252	107672252	Human	2	alternate_id
13525532	CV496922	single nucleotide variant	NM_000441.2(SLC26A4):c.1231G>C (p.Ala411Pro)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003471971]\|Rare genetic deafness [RCV000603987]\|not provided [RCV001868006]	pathogenic\|likely pathogenic	7	107690205	107690205	Human	1	alternate_id
13536537	CV498080	single nucleotide variant	NM_002241.5(KCNJ10):c.927C>T (p.Tyr309=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002506476]\|EAST syndrome [RCV000869968]\|KCNJ10-related disorder [RCV004544783]\|not specified [RCV000609148]	benign\|likely benign	1	160041606	160041606	Human	3	alternate_id
13619482	CV515169	single nucleotide variant	NM_002241.5(KCNJ10):c.511C>T (p.Arg171Trp)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000764991]\|EAST syndrome [RCV000646757]\|not provided [RCV004808823]	likely pathogenic\|uncertain significance	1	160042022	160042022	Human	3	alternate_id
8606307	CV52654	single nucleotide variant	NM_000441.2(SLC26A4):c.*11G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV001159995]\|Pendred syndrome [RCV001159994]\|not provided [RCV001610314]\|not specified [RCV000036413]	benign\|likely benign	7	107715457	107715457	Human	2	alternate_id
8606308	CV52655	single nucleotide variant	NC_000007.14:g.107660670A>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV001160934]\|Pendred syndrome [RCV001160933]\|not specified [RCV000036414]	likely benign\|uncertain significance	7	107660670	107660670	Human	2	alternate_id
8606309	CV52656	single nucleotide variant	NM_000441.2(SLC26A4):c.-3-2A>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV000036415]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV001785456]\|Pendred syndrome [RCV000665503]\|Rare genetic deafness [RCV000824761]\|SLC26A4-related disorder [RCV004534761]\|not provided [RCV001063867]	pathogenic\|likely pathogenic	7	107661637	107661637	Human	2	alternate_id
8606310	CV52657	single nucleotide variant	NM_000441.2(SLC26A4):c.-66C>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV000304663]\|Pendred syndrome [RCV000265909]\|not provided [RCV001668153]\|not specified [RCV000036416]	benign\|likely benign	7	107660793	107660793	Human	2	alternate_id
8606312	CV52659	single nucleotide variant	NM_000441.2(SLC26A4):c.1002-9A>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV001159774]\|Pendred syndrome [RCV000674864]\|not provided [RCV000442573]\|not specified [RCV000036419]	benign\|likely benign	7	107689044	107689044	Human	2	alternate_id
8606314	CV52661	single nucleotide variant	NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000367654]\|Pendred syndrome [RCV000275313]\|SLC26A4-related disorder [RCV004541094]\|not provided [RCV000906081]\|not specified [RCV000036422]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	107689120	107689120	Human	2	alternate_id
8606315	CV52662	single nucleotide variant	NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001004634]\|Nonsyndromic genetic hearing loss [RCV003990962]\|Pendred syndrome [RCV000987940]\|SLC26A4-related disorder [RCV004541095]\|not provided [RCV000756644]\|not specified [RCV000036423]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|other	7	107689112	107689112	Human	3	alternate_id
8606316	CV52663	single nucleotide variant	NM_000441.2(SLC26A4):c.1149+3A>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV002477083]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV003152674]\|Pendred syndrome [RCV001831648]\|Rare genetic deafness [RCV000036424]\|not provided [RCV001574741]	pathogenic	7	107689203	107689203	Human	2	alternate_id
8606317	CV52664	deletion	NM_000441.2(SLC26A4):c.1198del (p.Cys400fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000225034]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV002496558]\|Hearing loss, autosomal recessive [RCV001291249]\|Pendred syndrome [RCV000169097]\|Rare genetic deafness [RCV000036426]\|not provided [RCV000802527]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	7	107690171	107690171	Human	4	alternate_id
8606318	CV52665	single nucleotide variant	NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003473262]\|Pendred syndrome [RCV001171536]\|Rare genetic deafness [RCV000036427]\|not provided [RCV002272039]	pathogenic\|likely pathogenic\|uncertain significance	7	107690178	107690178	Human	2	alternate_id
8606319	CV52666	single nucleotide variant	NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000515653]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV002496559]\|Ear malformation [RCV001814024]\|Hearing loss, autosomal recessive [RCV001291345]\|Pendred syndrome [RCV000169222]\|Rare genetic deafness [RCV000036428]\|not provided [RCV0004244 ... (more) 41]\|not specified [RCV000506765]	pathogenic\|likely pathogenic	7	107690200	107690200	Human	5	alternate_id
8606320	CV52667	single nucleotide variant	NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001814025]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV003473263]\|Hearing loss, autosomal recessive [RCV001291346]\|Rare genetic deafness [RCV000036429]\|not provided [RCV002513381]	likely pathogenic	7	107690200	107690200	Human	4	alternate_id
8606321	CV52668	single nucleotide variant	NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000036430]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV000515696]\|Hearing loss, autosomal recessive [RCV001291347]\|Pendred syndrome [RCV000576483]\|Rare genetic deafness [RCV000824770]\|not provided [RCV000268093]	pathogenic\|likely pathogenic	7	107690203	107690203	Human	4	alternate_id
8606322	CV52669	single nucleotide variant	NM_000441.2(SLC26A4):c.1234G>A (p.Val412Ile)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001785457]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV002490496]\|Pendred syndrome [RCV000670464]\|not provided [RCV003137559]\|not specified [RCV000036431]	uncertain significance	7	107690208	107690208	Human	2	alternate_id
8606323	CV52670	single nucleotide variant	NM_000441.2(SLC26A4):c.1264-1G>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV002482976]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV003473264]\|Pendred syndrome [RCV000169533]\|Rare genetic deafness [RCV000036433]\|not provided [RCV001378587]	pathogenic\|likely pathogenic	7	107694402	107694402	Human	2	alternate_id
8606324	CV52671	microsatellite	NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002470729]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV002482977]\|Pendred syndrome [RCV000169051]\|Rare genetic deafness [RCV000036434]\|not provided [RCV001209562]	pathogenic\|likely pathogenic	7	107694419	107694421	Human		alternate_id
8606326	CV52673	deletion	NM_000441.2(SLC26A4):c.1308_1313del (p.Ala437_Leu438del)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001785458]\|Pendred syndrome [RCV000669085]\|not provided [RCV001852759]\|not specified [RCV000036436]	likely pathogenic\|uncertain significance	7	107694445	107694450	Human	2	alternate_id
8606327	CV52674	single nucleotide variant	NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001785459]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005031469]\|Pendred syndrome [RCV000169037]\|Rare genetic deafness [RCV000036438]\|not provided [RCV002513382]	pathogenic\|likely pathogenic	7	107694475	107694475	Human	2	alternate_id
8606328	CV52675	deletion	NM_000441.2(SLC26A4):c.1341+1del	Autosomal recessive nonsyndromic hearing loss 4 [RCV001807761]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005357262]\|Pendred syndrome [RCV000454189]\|Rare genetic deafness [RCV000036439]\|not provided [RCV001852760]	pathogenic	7	107694480	107694480	Human	2	alternate_id
8606329	CV52676	duplication	NM_000441.1(SLC26A4):c.1342-2_1343dup	Autosomal recessive nonsyndromic hearing loss 4 [RCV003473265]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005031470]\|Pendred syndrome [RCV001831649]\|Rare genetic deafness [RCV000036440]\|SLC26A4-related disorder [RCV004534762]\|not provided [RCV001248593]	pathogenic	7	107694617	107694618	Human	2	alternate_id
8606330	CV52677	single nucleotide variant	NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001162716]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV002496560]\|Microcephaly 5, primary, autosomal recessive [RCV001258258]\|Pendred syndrome [RCV000710343]\|not provided [RCV000441541]\|not specified [RCV000036441]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	107694642	107694642	Human	3	alternate_id
8606331	CV52678	single nucleotide variant	NM_000441.2(SLC26A4):c.1437+2T>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV001785460]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005031471]\|Pendred syndrome [RCV000410548]\|Rare genetic deafness [RCV000036442]\|SLC26A4-related disorder [RCV004528182]\|not provided [RCV001056726]	pathogenic\|likely pathogenic	7	107694718	107694718	Human	2	alternate_id
8606332	CV52679	single nucleotide variant	NM_000441.2(SLC26A4):c.1488C>T (p.Leu496=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001162718]\|Pendred syndrome [RCV000169380]\|not provided [RCV000956519]\|not specified [RCV000036443]	benign\|likely benign\|conflicting interpretations of pathogenicity	7	107695983	107695983	Human	2	alternate_id
8606334	CV52680	single nucleotide variant	NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003473266]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005031472]\|Pendred syndrome [RCV000666548]\|Rare genetic deafness [RCV000036445]\|SLC26A4-related disorder [RCV004737174]\|not provided [RCV000320959]\|not specified [RCV000507599]	pathogenic\|likely pathogenic	7	107696036	107696036	Human	2	alternate_id
8606336	CV52682	single nucleotide variant	NM_000441.2(SLC26A4):c.1545-5T>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV002496561]\|Pendred syndrome [RCV001277149]\|not provided [RCV000884663]\|not specified [RCV000036447]	benign\|likely benign\|conflicting interpretations of pathogenicity	7	107698037	107698037	Human	2	alternate_id
8606338	CV52684	single nucleotide variant	NM_000441.2(SLC26A4):c.15C>A (p.Gly5=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001164582]\|Pendred syndrome [RCV000674869]\|not provided [RCV000956517]\|not specified [RCV000036450]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	107661656	107661656	Human	2	alternate_id
8606339	CV52685	single nucleotide variant	NM_000441.2(SLC26A4):c.1614+1G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV000515698]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV002477084]\|Pendred syndrome [RCV000984218]\|Rare genetic deafness [RCV000036451]\|not provided [RCV000359760]	pathogenic	7	107698112	107698112	Human	2	alternate_id
8606341	CV52687	single nucleotide variant	NM_000441.2(SLC26A4):c.164+2T>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV003473267]\|Pendred syndrome [RCV000984221]\|Rare genetic deafness [RCV000036453]\|not provided [RCV000328168]	pathogenic	7	107661807	107661807	Human	2	alternate_id
8606342	CV52688	single nucleotide variant	NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001004646]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005042108]\|Pendred syndrome [RCV000666339]\|Rare genetic deafness [RCV000036454]\|not provided [RCV001781350]	pathogenic\|likely pathogenic\|affects	7	107700162	107700162	Human	2	alternate_id
8606344	CV52690	single nucleotide variant	NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002496562]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV003473268]\|Pendred syndrome [RCV000673671]\|SLC26A4-related disorder [RCV004534763]\|not provided [RCV000497745]\|not specified [RCV000036456]	pathogenic\|likely pathogenic\|uncertain significance	7	107701101	107701101	Human	2	alternate_id
8606347	CV52693	single nucleotide variant	NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001164583]\|Pendred syndrome [RCV000169379]\|not provided [RCV000757777]\|not specified [RCV000036459]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	107661658	107661658	Human	2	alternate_id
8606348	CV52694	single nucleotide variant	NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000755654]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV001197464]\|Pendred syndrome [RCV001164805]\|not provided [RCV000428613]\|not specified [RCV000036460]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	107701183	107701183	Human	2	alternate_id
8606349	CV52695	single nucleotide variant	NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000317486]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV002496563]\|Pendred syndrome [RCV000374325]\|not provided [RCV000713334]\|not specified [RCV000036461]	benign\|likely benign\|conflicting interpretations of pathogenicity	7	107701849	107701849	Human	2	alternate_id
8606350	CV52696	single nucleotide variant	NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001159887]\|Pendred syndrome [RCV001004781]\|SLC26A4-related disorder [RCV004534764]\|not provided [RCV000966198]\|not specified [RCV000036462]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	107701947	107701947	Human	2	alternate_id
8606351	CV52697	single nucleotide variant	NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003473269]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV004795954]\|Deafness [RCV004798755]\|Pendred syndrome [RCV000675129]\|Rare genetic deafness [RCV000036463]\|not provided [RCV003727609]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	7	107701986	107701986	Human	4	alternate_id
8606352	CV52698	single nucleotide variant	NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001159888]\|Pendred syndrome [RCV000667285]\|not provided [RCV001510117]\|not specified [RCV000036464]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	107702006	107702006	Human	2	alternate_id
8606355	CV52701	single nucleotide variant	NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001161291]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV001824586]\|Pendred syndrome [RCV000778812]\|Rare genetic deafness [RCV000036467]\|SLC26A4-related disorder [RCV002291269]\|not provided [RCV000801210]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	7	107702038	107702038	Human	2	alternate_id
8606356	CV52702	single nucleotide variant	NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000770856]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV004795955]\|Pendred syndrome [RCV000169448]\|Rare genetic deafness [RCV000036468]\|not provided [RCV001170043]	pathogenic\|likely pathogenic	7	107702050	107702050	Human	2	alternate_id
8606358	CV52704	single nucleotide variant	NM_000441.2(SLC26A4):c.2059G>T (p.Asp687Tyr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001785461]\|Pendred syndrome [RCV000671555]\|not provided [RCV001556359]\|not specified [RCV000036470]	uncertain significance	7	107704355	107704355	Human	2	alternate_id
8606361	CV52707	single nucleotide variant	NM_000441.2(SLC26A4):c.2130C>T (p.Asp710=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001162819]\|Pendred syndrome [RCV001162820]\|not provided [RCV000713335]\|not specified [RCV000036473]	benign\|likely benign	7	107710094	107710094	Human	2	alternate_id
8606362	CV52708	single nucleotide variant	NM_000441.2(SLC26A4):c.2131G>A (p.Asp711Asn)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001785462]\|Pendred syndrome [RCV000668787]\|not provided [RCV005222720]\|not specified [RCV000036474]	uncertain significance	7	107710095	107710095	Human	2	alternate_id
8606364	CV52710	single nucleotide variant	NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002051802]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005031473]\|Pendred syndrome [RCV000675123]\|Rare genetic deafness [RCV000036476]\|SLC26A4-related disorder [RCV004737175]\|not provided [RCV000585409]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	7	107710109	107710109	Human	2	alternate_id
8606366	CV52712	single nucleotide variant	NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001785463]\|Pendred syndrome [RCV000671237]\|not provided [RCV000893561]\|not specified [RCV000036479]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	107710154	107710154	Human	2	alternate_id
8606367	CV52713	single nucleotide variant	NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001162821]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV002496564]\|Pendred syndrome [RCV000169090]\|not provided [RCV000713336]\|not specified [RCV000036480]	benign\|likely benign\|conflicting interpretations of pathogenicity	7	107710182	107710182	Human	2	alternate_id
8606368	CV52714	single nucleotide variant	NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001164904]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005357263]\|Hearing impairment [RCV001375368]\|Pendred syndrome [RCV001164905]\|Rare genetic deafness [RCV004017307]\|not provided [RCV000584878]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|no classifications from unflagged records	7	107710183	107710183	Human	4	alternate_id
8606369	CV52715	single nucleotide variant	NM_000441.2(SLC26A4):c.2291C>T (p.Thr764Met)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000289695]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV000764681]\|Pendred syndrome [RCV000346954]\|not provided [RCV001460836]\|not specified [RCV000036482]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	107712594	107712594	Human	2	alternate_id
8606370	CV52716	single nucleotide variant	NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001159993]\|Pendred syndrome [RCV001159992]\|not provided [RCV000757778]\|not specified [RCV000036483]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	107715429	107715429	Human	2	alternate_id
8606373	CV52719	single nucleotide variant	NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001785464]\|Pendred syndrome [RCV000665402]\|SLC26A4-related disorder [RCV004534766]\|not provided [RCV000723704]	conflicting interpretations of pathogenicity\|uncertain significance	7	107661669	107661669	Human	2	alternate_id
8606374	CV52720	deletion	NM_000441.2(SLC26A4):c.294_298del (p.Thr99fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003473270]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005042109]\|Pendred syndrome [RCV000412115]\|Rare genetic deafness [RCV000036487]\|not provided [RCV001781351]	pathogenic\|likely pathogenic	7	107663423	107663427	Human	2	alternate_id
8606376	CV52722	single nucleotide variant	NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001329893]\|Pendred syndrome [RCV001273161]\|Rare genetic deafness [RCV000036489]\|SLC26A4-related disorder [RCV003114215]\|not provided [RCV000797012]	pathogenic	7	107661643	107661643	Human	2	alternate_id
8606378	CV52724	single nucleotide variant	NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000225082]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV002504887]\|Pendred syndrome [RCV000225040]\|Rare genetic deafness [RCV000036491]\|SLC26A4-related disorder [RCV004534767]\|not provided [RCV001823104]\|not specified [RCV000757776]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|other	7	107672182	107672182	Human	3	alternate_id
8606380	CV52726	single nucleotide variant	NM_000441.2(SLC26A4):c.416-13T>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV001161066]\|Pendred syndrome [RCV001161065]\|not provided [RCV001618226]\|not specified [RCV000036494]	benign\|likely benign\|uncertain significance	7	107674151	107674151	Human	2	alternate_id
8606381	CV52727	single nucleotide variant	NM_000441.2(SLC26A4):c.416-7T>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV001161067]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV002496565]\|Pendred syndrome [RCV001004772]\|not provided [RCV000905996]\|not specified [RCV000036495]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	107674157	107674157	Human	2	alternate_id
8606382	CV52728	single nucleotide variant	NM_000441.2(SLC26A4):c.545A>T (p.Asp182Val)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001785465]\|Pendred syndrome [RCV000673701]\|not specified [RCV000036496]	uncertain significance	7	107674293	107674293	Human	2	alternate_id
8606385	CV52731	single nucleotide variant	NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000770858]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV002482978]\|Pendred syndrome [RCV001553550]\|Rare genetic deafness [RCV000036500]\|not provided [RCV001056927]	pathogenic\|likely pathogenic	7	107674337	107674337	Human	2	alternate_id
8606387	CV52733	single nucleotide variant	NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001375688]\|Pendred syndrome [RCV000670566]\|not provided [RCV002513385]\|not specified [RCV000036503]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	7	107675041	107675041	Human	2	alternate_id
8606388	CV52734	single nucleotide variant	NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000036504]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV003473271]\|Deafness [RCV004798756]\|Pendred syndrome [RCV000411990]\|Rare genetic deafness [RCV000824765]\|SLC26A4-related disorder [RCV004724763]\|not provided [RCV001561167]\|not specified ... (more) [RCV000508376]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	7	107675050	107675050	Human	4	alternate_id
8606389	CV52735	single nucleotide variant	NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001004629]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV001814026]\|Deafness [RCV004798757]\|Hearing loss, autosomal recessive [RCV001291246]\|Pendred syndrome [RCV000169244]\|Rare genetic deafness [RCV000036506]\|Sensorineural hearing loss disor ... (more) der [RCV005420507]\|not provided [RCV000724118]	pathogenic\|likely pathogenic\|affects\|conflicting interpretations of pathogenicity	7	107675060	107675060	Human	8	alternate_id
8606391	CV52737	single nucleotide variant	NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002477085]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV003473272]\|Pendred syndrome [RCV001171537]\|Rare genetic deafness [RCV000036508]\|not provided [RCV000396295]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	7	107683281	107683281	Human	2	alternate_id
8606393	CV52739	single nucleotide variant	NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002496566]\|Pendred syndrome [RCV000169080]\|SLC26A4-related disorder [RCV004541097]\|not provided [RCV000888731]\|not specified [RCV000036511]	benign\|likely benign\|conflicting interpretations of pathogenicity	7	107683334	107683334	Human	2	alternate_id
8606394	CV52740	single nucleotide variant	NM_000441.2(SLC26A4):c.918+1G>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV003473273]\|Pendred syndrome [RCV000667963]\|Rare genetic deafness [RCV000036512]\|not provided [RCV002513387]	pathogenic\|likely pathogenic	7	107683355	107683355	Human	2	alternate_id
8606395	CV52742	single nucleotide variant	NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001164699]\|Pendred syndrome [RCV000674464]\|SLC26A4-related disorder [RCV004534768]\|not provided [RCV000956518]\|not specified [RCV000036514]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	107683500	107683500	Human	2	alternate_id
8606396	CV52743	single nucleotide variant	NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001004632]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV002496567]\|Pendred syndrome [RCV000169079]\|not provided [RCV000906722]\|not specified [RCV000036515]	benign\|likely benign\|other	7	107683506	107683506	Human	2	alternate_id
13785461	CV544005	single nucleotide variant	NM_000441.2(SLC26A4):c.416G>C (p.Gly139Ala)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001004623]\|Pendred syndrome [RCV000672039]\|not provided [RCV001724128]	pathogenic\|likely pathogenic\|affects\|conflicting interpretations of pathogenicity\|uncertain significance	7	107674164	107674164	Human	2	alternate_id
13789050	CV544006	deletion	NM_000441.2(SLC26A4):c.737del (p.Asn246fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472169]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005034276]\|Pendred syndrome [RCV000674300]\|not provided [RCV000806485]	pathogenic\|likely pathogenic	7	107675077	107675077	Human	2	alternate_id
13790093	CV544015	single nucleotide variant	NM_000441.2(SLC26A4):c.1001+4A>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472080]\|Pendred syndrome [RCV000666349]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	7	107683541	107683541	Human	2	alternate_id
13787211	CV544036	single nucleotide variant	NM_000441.2(SLC26A4):c.1252G>A (p.Gly418Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005411531]\|Pendred syndrome [RCV000664708]	uncertain significance	7	107690226	107690226	Human	2	alternate_id
13786985	CV544042	single nucleotide variant	NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002499145]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV003472064]\|Pendred syndrome [RCV000664579]\|not provided [RCV001061723]	pathogenic\|likely pathogenic	7	107694622	107694622	Human	2	alternate_id
13792373	CV544045	single nucleotide variant	NM_000441.2(SLC26A4):c.1415G>A (p.Trp472Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001785695]\|Pendred syndrome [RCV000668629]\|not provided [RCV000760431]	pathogenic\|likely pathogenic	7	107694694	107694694	Human	2	alternate_id
13789419	CV544048	single nucleotide variant	NM_000441.2(SLC26A4):c.1511T>C (p.Phe504Ser)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001785700]\|Pendred syndrome [RCV000674503]\|not specified [RCV000825039]	uncertain significance	7	107696006	107696006	Human	2	alternate_id
13791676	CV544051	microsatellite	NM_000441.2(SLC26A4):c.1741_1742del (p.Arg581fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005034246]\|Pendred syndrome [RCV000667758]\|not provided [RCV003688871]	pathogenic\|likely pathogenic	7	107701132	107701133	Human		alternate_id
13784962	CV544054	single nucleotide variant	NM_000441.2(SLC26A4):c.1796C>T (p.Ala599Val)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001785698]\|Pendred syndrome [RCV000671458]\|not provided [RCV001464496]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	107701189	107701189	Human	2	alternate_id
13789830	CV544067	single nucleotide variant	NM_000441.2(SLC26A4):c.1905G>A (p.Glu635=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001785694]\|Inborn genetic diseases [RCV004026091]\|Pendred syndrome [RCV000666200]\|not provided [RCV000728322]\|not specified [RCV001779044]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	107701928	107701928	Human	3	alternate_id
13791658	CV544095	single nucleotide variant	NM_000441.2(SLC26A4):c.2186T>C (p.Leu729Pro)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472089]\|Pendred syndrome [RCV000667731]\|not provided [RCV001226428]	pathogenic\|likely pathogenic	7	107710150	107710150	Human	2	alternate_id
13787603	CV544101	single nucleotide variant	NM_000441.2(SLC26A4):c.*51T>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV001161413]\|Pendred syndrome [RCV000664939]	uncertain significance	7	107715497	107715497	Human	2	alternate_id
13784283	CV544283	single nucleotide variant	NM_000441.2(SLC26A4):c.87G>T (p.Glu29Asp)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005416118]\|Pendred syndrome [RCV000670732]\|not provided [RCV002462009]	likely pathogenic\|uncertain significance	7	107661728	107661728	Human	2	alternate_id
13786250	CV544308	single nucleotide variant	NM_000441.2(SLC26A4):c.440T>C (p.Met147Thr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001004624]\|Pendred syndrome [RCV000672680]\|not provided [RCV003558518]	pathogenic\|likely pathogenic\|affects	7	107674188	107674188	Human	2	alternate_id
13789249	CV544316	single nucleotide variant	NM_000441.2(SLC26A4):c.1409G>A (p.Arg470His)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001004643]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV002493087]\|Pendred syndrome [RCV000665875]	uncertain significance\|other	7	107694688	107694688	Human	2	alternate_id
13784247	CV544324	single nucleotide variant	NM_000441.2(SLC26A4):c.1454C>T (p.Thr485Met)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005034258]\|Pendred syndrome [RCV000670687]\|not provided [RCV001855545]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	7	107695949	107695949	Human	2	alternate_id
13791474	CV544334	single nucleotide variant	NM_000441.2(SLC26A4):c.86A>G (p.Glu29Gly)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002477489]\|Pendred syndrome [RCV000667499]\|not provided [RCV003558493]	pathogenic\|uncertain significance	7	107661727	107661727	Human	2	alternate_id
13791949	CV544340	microsatellite	NM_000441.2(SLC26A4):c.2177_2178dup (p.Leu727fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005034248]\|Pendred syndrome [RCV000668097]\|not provided [RCV001868220]	pathogenic\|likely pathogenic	7	107710138	107710139	Human		alternate_id
13782530	CV544345	single nucleotide variant	NM_000441.2(SLC26A4):c.2320-2A>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472108]\|Pendred syndrome [RCV000668978]	likely pathogenic\|uncertain significance	7	107715421	107715421	Human	2	alternate_id
13791952	CV544348	single nucleotide variant	NM_000441.2(SLC26A4):c.259G>T (p.Asp87Tyr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005046877]\|Pendred syndrome [RCV000668101]\|not provided [RCV002532067]	pathogenic\|likely pathogenic	7	107663390	107663390	Human	2	alternate_id
13785430	CV544352	single nucleotide variant	NM_000441.2(SLC26A4):c.412G>C (p.Val138Leu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003152725]\|Pendred syndrome [RCV000672001]\|not provided [RCV001855572]	pathogenic\|likely pathogenic	7	107672245	107672245	Human	2	alternate_id
13785990	CV544360	single nucleotide variant	NM_000441.2(SLC26A4):c.445G>A (p.Gly149Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001579260]\|Hearing impairment [RCV001375318]\|Pendred syndrome [RCV000672449]\|not specified [RCV005240442]	uncertain significance	7	107674193	107674193	Human	4	alternate_id
13791053	CV544366	deletion	NM_000441.2(SLC26A4):c.349del (p.Leu117fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472083]\|Pendred syndrome [RCV000667022]\|not provided [RCV001855472]	pathogenic	7	107672182	107672182	Human	2	alternate_id
13788471	CV544369	single nucleotide variant	NM_000441.2(SLC26A4):c.487G>A (p.Val163Ile)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001004626]\|Pendred syndrome [RCV000665395]	uncertain significance\|other	7	107674235	107674235	Human	2	alternate_id
13788269	CV544373	single nucleotide variant	NM_000441.2(SLC26A4):c.481T>A (p.Phe161Ile)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001729681]\|Pendred syndrome [RCV000665280]\|not provided [RCV002532041]\|not specified [RCV004800515]	conflicting interpretations of pathogenicity\|uncertain significance	7	107674229	107674229	Human	2	alternate_id
13786284	CV544375	single nucleotide variant	NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001004627]\|Pendred syndrome [RCV000672704]\|not provided [RCV001816678]\|not specified [RCV001731878]	likely pathogenic\|affects\|conflicting interpretations of pathogenicity\|uncertain significance	7	107674304	107674304	Human	2	alternate_id
13792397	CV544379	single nucleotide variant	NM_000441.2(SLC26A4):c.1105A>T (p.Lys369Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001784255]\|Pendred syndrome [RCV000668660]\|not provided [RCV001040071]	pathogenic\|likely pathogenic	7	107689156	107689156	Human	2	alternate_id
13783047	CV544380	single nucleotide variant	NM_000441.2(SLC26A4):c.1195T>C (p.Ser399Pro)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001004635]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV002499166]\|Pendred syndrome [RCV000669625]\|not provided [RCV002531233]	affects\|uncertain significance	7	107690169	107690169	Human	2	alternate_id
13785549	CV544382	single nucleotide variant	NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000770862]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005046895]\|Pendred syndrome [RCV000672119]\|not provided [RCV001386692]	pathogenic\|likely pathogenic	7	107690236	107690236	Human	2	alternate_id
13787446	CV544391	single nucleotide variant	NM_000441.2(SLC26A4):c.1371C>A (p.Asn457Lys)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001004642]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005034233]\|Pendred syndrome [RCV000664842]\|not provided [RCV001855431]	pathogenic\|likely pathogenic\|affects	7	107694650	107694650	Human	2	alternate_id
13790077	CV544395	single nucleotide variant	NM_000441.2(SLC26A4):c.563T>C (p.Ile188Thr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472078]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005046859]\|Pendred syndrome [RCV000666340]	pathogenic\|likely pathogenic	7	107674311	107674311	Human	2	alternate_id
13788237	CV544412	single nucleotide variant	NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001809737]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV002499147]\|Hearing loss, autosomal recessive [RCV001291350]\|Pendred syndrome [RCV000665266]\|not provided [RCV001227582]	pathogenic\|likely pathogenic	7	107694476	107694476	Human	4	alternate_id
13791935	CV544424	single nucleotide variant	NM_000441.2(SLC26A4):c.1707+2T>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV002493097]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV003472094]\|Pendred syndrome [RCV000668081]\|not provided [RCV005054238]	likely pathogenic	7	107700177	107700177	Human	2	alternate_id
13787035	CV544433	single nucleotide variant	NM_000441.2(SLC26A4):c.1589A>C (p.Tyr530Ser)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472153]\|Pendred syndrome [RCV000673239]\|not provided [RCV004719936]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	7	107698086	107698086	Human	2	alternate_id
13783646	CV544435	single nucleotide variant	NM_000441.2(SLC26A4):c.2005G>A (p.Asp669Asn)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472122]\|Pendred syndrome [RCV000670213]\|not provided [RCV003558506]	pathogenic\|likely pathogenic\|uncertain significance	7	107702028	107702028	Human	2	alternate_id
13790160	CV544442	single nucleotide variant	NM_000441.2(SLC26A4):c.2009T>C (p.Val670Ala)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000764680]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV001785701]\|Pendred syndrome [RCV000674896]\|not provided [RCV002532167]	conflicting interpretations of pathogenicity\|uncertain significance	7	107702032	107702032	Human	2	alternate_id
13790086	CV544449	single nucleotide variant	NM_000441.2(SLC26A4):c.2118C>A (p.Cys706Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472079]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005034242]\|Pendred syndrome [RCV000666346]\|not provided [RCV001064709]	pathogenic	7	107710082	107710082	Human	2	alternate_id
13792334	CV544452	single nucleotide variant	NM_000441.2(SLC26A4):c.2170G>A (p.Asp724Asn)	Autosomal recessive nonsyndromic hearing loss 4 [RCV004797856]\|Pendred syndrome [RCV000668584]\|not provided [RCV003558498]\|not specified [RCV003330882]	pathogenic\|likely pathogenic\|uncertain significance	7	107710134	107710134	Human	2	alternate_id
13786802	CV544453	single nucleotide variant	NM_000441.2(SLC26A4):c.2235+2T>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV001580205]\|Pendred syndrome [RCV000673114]	likely pathogenic	7	107710201	107710201	Human	2	alternate_id
13816362	CV556711	single nucleotide variant	NM_002241.5(KCNJ10):c.385A>G (p.Ile129Val)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002493246]\|EAST syndrome [RCV000706316]\|not provided [RCV005401588]	uncertain significance	1	160042148	160042148	Human	3	alternate_id
8610913	CV57212	single nucleotide variant	NM_170707.4(LMNA):c.1698C>T (p.His566=)	Cardiomyopathy [RCV000775990]\|Cardiovascular phenotype [RCV000252567]\|Charcot-Marie-Tooth disease [RCV001173414]\|Charcot-Marie-Tooth disease type 2 [RCV000393593]\|Charcot-Marie-Tooth disease type 2B1 [RCV001093768]\|Congenital muscular dystrophy due to LMNA mutation [RCV000313972]\|Dilated cardiomyopa ... (more) thy 1A [RCV000375103]\|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV001098384]\|Emery-Dreifuss muscular dystrophy [RCV000307278]\|Familial partial lipodystrophy, Dunnigan type [RCV000280696]\|Hutchinson-Gilford syndrome [RCV000335127]\|Lethal tight skin contracture syndrome [RCV000339153]\|Limb-girdle muscular dystrophy, recessive [RCV000350197]\|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV000398387]\|Mandibuloacral dysplasia with type A lipodystrophy [RCV000225004]\|Primary dilated cardiomyopathy [RCV003125876]\|not provided [RCV000057348]\|not specified [RCV000041327]	pathogenic\|likely pathogenic\|benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters\|not provided	1	156137743	156137744	Human	21	alternate_id
8610913	CV57212	single nucleotide variant	NM_170707.4(LMNA):c.1698C>T (p.His566=)	Cardiomyopathy [RCV000775990]\|Cardiovascular phenotype [RCV000252567]\|Charcot-Marie-Tooth disease [RCV001173414]\|Charcot-Marie-Tooth disease type 2 [RCV000393593]\|Charcot-Marie-Tooth disease type 2B1 [RCV001093768]\|Congenital muscular dystrophy due to LMNA mutation [RCV000313972]\|Dilated cardiomyopa ... (more) thy 1A [RCV000375103]\|Emery-Dreifuss muscular dystrophy 2, autosomal dominant [RCV001098384]\|Emery-Dreifuss muscular dystrophy [RCV000307278]\|Familial partial lipodystrophy, Dunnigan type [RCV000280696]\|Hutchinson-Gilford syndrome [RCV000335127]\|Lethal tight skin contracture syndrome [RCV000339153]\|Limb-girdle muscular dystrophy, recessive [RCV000350197]\|Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules [RCV000398387]\|Mandibuloacral dysplasia with type A lipodystrophy [RCV000225004]\|Primary dilated cardiomyopathy [RCV003125876]\|not provided [RCV000057348]\|not specified [RCV000041327]	pathogenic\|likely pathogenic\|benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters\|not provided	1	156137743	156137743	Human	21	alternate_id
13831557	CV582055	single nucleotide variant	NM_000441.2(SLC26A4):c.1708-1G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472258]\|not provided [RCV000722237]	pathogenic\|likely pathogenic\|uncertain significance	7	107701100	107701100	Human	1	alternate_id
13832105	CV582596	single nucleotide variant	NM_000441.2(SLC26A4):c.1301C>A (p.Ala434Asp)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002507275]\|See cases [RCV004584409]\|not provided [RCV000722788]	uncertain significance	7	107694440	107694440	Human	2	alternate_id
13832789	CV584003	single nucleotide variant	NM_000441.2(SLC26A4):c.1614+7A>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV001164803]\|Pendred syndrome [RCV001164804]\|SLC26A4-related disorder [RCV004540031]\|not provided [RCV000835660]\|not specified [RCV000727835]	benign\|likely benign\|uncertain significance	7	107698118	107698118	Human	2	alternate_id
13837555	CV588845	single nucleotide variant	NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001785715]\|Pendred syndrome [RCV001785714]\|SLC26A4-related disorder [RCV004723148]\|not provided [RCV000734009]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	7	107700141	107700141	Human	2	alternate_id
14689840	CV615796	single nucleotide variant	NM_000441.2(SLC26A4):c.109G>T (p.Glu37Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000770855]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV004796301]\|not provided [RCV001232944]	pathogenic	7	107661750	107661750	Human	2	alternate_id
14689847	CV615797	single nucleotide variant	NM_000441.2(SLC26A4):c.589G>T (p.Gly197Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000770870]	pathogenic	7	107674337	107674337	Human	1	alternate_id
14689849	CV615798	single nucleotide variant	NM_000441.2(SLC26A4):c.1318A>T (p.Lys440Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000770871]	pathogenic	7	107694457	107694457	Human	1	alternate_id
14689842	CV615799	single nucleotide variant	NM_000441.2(SLC26A4):c.1339A>T (p.Lys447Ter)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000770859]	pathogenic	7	107694478	107694478	Human	1	alternate_id
14689650	CV615800	deletion	NM_000441.2(SLC26A4):c.1340del (p.Lys447fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000770863]\|Pendred syndrome [RCV003323717]	pathogenic	7	107694478	107694478	Human	2	alternate_id
14689843	CV615801	single nucleotide variant	NM_000441.2(SLC26A4):c.1343C>G (p.Ser448Trp)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000770864]	likely pathogenic	7	107694622	107694622	Human	1	alternate_id
14689653	CV615802	duplication	NM_000441.2(SLC26A4):c.1692dup (p.Cys565fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000770866]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005036094]\|Pendred syndrome [RCV001785722]\|not provided [RCV001232740]	pathogenic	7	107700154	107700155	Human	2	alternate_id
14689654	CV615803	deletion	NM_000441.2(SLC26A4):c.1746del (p.Ala584fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV000770867]\|Pendred syndrome [RCV001004223]	pathogenic	7	107701139	107701139	Human	2	alternate_id
14740474	CV626984	indel	NM_002241.5(KCNJ10):c.934_935delinsTT (p.Thr312Leu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002487845]\|EAST syndrome [RCV000821814]\|Inborn genetic diseases [RCV002372346]\|not provided [RCV004721637]	uncertain significance	1	160041598	160041599	Human		alternate_id
14727307	CV626985	single nucleotide variant	NM_002241.5(KCNJ10):c.783G>C (p.Glu261Asp)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005047103]\|EAST syndrome [RCV000816030]	uncertain significance	1	160041750	160041750	Human	2	alternate_id
14725783	CV635445	indel	NM_000441.2(SLC26A4):c.130delinsTTG (p.Lys44fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003472359]\|not provided [RCV000798961]	pathogenic\|likely pathogenic	7	107661771	107661771	Human		alternate_id
14703818	CV651745	single nucleotide variant	NM_000441.2(SLC26A4):c.1708-1G>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV002493455]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV003472344]\|not provided [RCV000795316]	likely pathogenic	7	107701100	107701100	Human	2	alternate_id
14704622	CV654475	single nucleotide variant	NM_000441.2(SLC26A4):c.486C>T (p.Leu162=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001161068]\|Pendred syndrome [RCV001161069]\|not provided [RCV001395450]\|not specified [RCV000825823]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	107674234	107674234	Human	2	alternate_id
21404229	CV679192	single nucleotide variant	NM_000441.2(SLC26A4):c.367C>T (p.Pro123Ser)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001004620]\|Pendred syndrome [RCV002469306]\|not provided [RCV003558616]	pathogenic\|likely pathogenic\|affects	7	107672200	107672200	Human	2	alternate_id
21404231	CV679193	single nucleotide variant	NM_000441.2(SLC26A4):c.392G>T (p.Gly131Val)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001004621]	affects	7	107672225	107672225	Human	1	alternate_id
21404235	CV679194	single nucleotide variant	NM_000441.2(SLC26A4):c.439A>G (p.Met147Val)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001004625]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005047126]\|Pendred syndrome [RCV003235420]\|not provided [RCV001389158]	pathogenic\|affects	7	107674187	107674187	Human	2	alternate_id
25318581	CV679195	single nucleotide variant	NM_000441.2(SLC26A4):c.641A>G (p.Tyr214Cys)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001004628]\|Pendred syndrome [RCV005408014]\|not provided [RCV002538372]	pathogenic\|likely pathogenic	7	107674985	107674985	Human	2	alternate_id
21404237	CV679196	single nucleotide variant	NM_000441.2(SLC26A4):c.919A>G (p.Thr307Ala)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001004631]	other	7	107683455	107683455	Human	1	alternate_id
25318584	CV679198	single nucleotide variant	NM_000441.2(SLC26A4):c.1229C>A (p.Thr410Lys)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001004637]\|not provided [RCV001869296]	pathogenic\|likely pathogenic	7	107690203	107690203	Human	1	alternate_id
21404242	CV679199	single nucleotide variant	NM_000441.2(SLC26A4):c.1262A>T (p.Gln421Leu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001004639]	pathogenic\|affects	7	107690236	107690236	Human	1	alternate_id
21404244	CV679200	single nucleotide variant	NM_000441.2(SLC26A4):c.1277T>A (p.Ile426Asn)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001004640]\|not provided [RCV002536189]	affects\|uncertain significance	7	107694416	107694416	Human	1	alternate_id
21404249	CV679202	single nucleotide variant	NM_000441.2(SLC26A4):c.1970G>A (p.Ser657Asn)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001004647]	affects	7	107701993	107701993	Human	1	alternate_id
21404250	CV679203	single nucleotide variant	NM_000441.2(SLC26A4):c.1997C>T (p.Ser666Phe)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001004648]	affects	7	107702020	107702020	Human	1	alternate_id
25318587	CV679204	single nucleotide variant	NM_000441.2(SLC26A4):c.2108T>C (p.Leu703Pro)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001004650]	pathogenic	7	107710072	107710072	Human	1	alternate_id
15178026	CV722230	single nucleotide variant	NM_000441.2(SLC26A4):c.1491T>C (p.Gly497=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001164800]\|Pendred syndrome [RCV001164801]\|not provided [RCV000884963]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	107695986	107695986	Human	2	alternate_id
15122431	CV745771	single nucleotide variant	NM_002241.5(KCNJ10):c.366C>T (p.Ser122=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002487993]\|EAST syndrome [RCV001424762]	likely benign	1	160042167	160042167	Human	3	alternate_id
15122312	CV765977	single nucleotide variant	NM_000441.2(SLC26A4):c.2040C>T (p.Val680=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001161294]\|Pendred syndrome [RCV001161295]\|not provided [RCV000940666]	likely benign\|uncertain significance	7	107704336	107704336	Human	2	alternate_id
15194532	CV765979	single nucleotide variant	NM_000441.2(SLC26A4):c.2185C>T (p.Leu729=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001578954]\|Pendred syndrome [RCV001277153]\|not provided [RCV000933671]	likely benign	7	107710149	107710149	Human	2	alternate_id
21404196	CV801644	duplication	NM_000441.2(SLC26A4):c.1458dup (p.Ile487fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001004806]\|Pendred syndrome [RCV001004222]	pathogenic	7	107695952	107695953	Human	2	alternate_id
25318795	CV816404	single nucleotide variant	NM_000441.2(SLC26A4):c.165-1G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV003473609]\|Pendred syndrome [RCV001027888]\|not provided [RCV001060495]	pathogenic\|likely pathogenic	7	107663295	107663295	Human	2	alternate_id
26906223	CV822879	single nucleotide variant	NM_002241.5(KCNJ10):c.1140A>T (p.Ter380Cys)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002505631]\|EAST syndrome [RCV001062079]	uncertain significance	1	160041393	160041393	Human	3	alternate_id
26887119	CV832780	duplication	NM_000441.2(SLC26A4):c.2174_2177dup (p.Leu727fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003473658]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005036355]\|Hearing loss, autosomal recessive [RCV004794482]\|Pendred syndrome [RCV001275120]\|not provided [RCV001055826]	pathogenic	7	107710137	107710138	Human	4	alternate_id
28893272	CV862502	single nucleotide variant	NM_002241.5(KCNJ10):c.*3919G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV001100891]\|EAST syndrome [RCV001100890]	uncertain significance	1	160037474	160037474	Human	2	alternate_id
28882351	CV862503	single nucleotide variant	NM_002241.5(KCNJ10):c.*3737A>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV001097155]\|EAST syndrome [RCV001097156]	uncertain significance	1	160037656	160037656	Human	2	alternate_id
28887845	CV862504	single nucleotide variant	NM_002241.5(KCNJ10):c.*3458G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV001098900]\|EAST syndrome [RCV001098899]	uncertain significance	1	160037935	160037935	Human	2	alternate_id
28887848	CV862505	single nucleotide variant	NM_002241.5(KCNJ10):c.*3250G>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV001098902]\|EAST syndrome [RCV001098901]	benign\|likely benign	1	160038143	160038143	Human	2	alternate_id
28892828	CV862506	single nucleotide variant	NM_002241.5(KCNJ10):c.*3158C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV001100721]\|EAST syndrome [RCV001100722]	uncertain significance	1	160038235	160038235	Human	2	alternate_id
28892834	CV862507	single nucleotide variant	NM_002241.5(KCNJ10):c.*3130C>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV001100724]\|EAST syndrome [RCV001100723]	uncertain significance	1	160038263	160038263	Human	2	alternate_id
28893491	CV862508	single nucleotide variant	NM_002241.5(KCNJ10):c.*2896T>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV001100980]\|EAST syndrome [RCV001100979]	uncertain significance	1	160038497	160038497	Human	2	alternate_id
28882669	CV862509	single nucleotide variant	NM_002241.5(KCNJ10):c.*2754G>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV001097243]\|EAST syndrome [RCV001097242]	uncertain significance	1	160038639	160038639	Human	2	alternate_id
28882676	CV862510	single nucleotide variant	NM_002241.5(KCNJ10):c.*2624G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV001097244]\|EAST syndrome [RCV001097245]	uncertain significance	1	160038769	160038769	Human	2	alternate_id
28888152	CV862511	single nucleotide variant	NM_002241.5(KCNJ10):c.*2554G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV001099002]\|EAST syndrome [RCV001099001]	uncertain significance	1	160038839	160038839	Human	2	alternate_id
28888159	CV862512	single nucleotide variant	NM_002241.5(KCNJ10):c.*2516C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV001099004]\|EAST syndrome [RCV001099003]	uncertain significance	1	160038877	160038877	Human	2	alternate_id
28893085	CV862513	single nucleotide variant	NM_002241.5(KCNJ10):c.*2406T>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV001100820]\|EAST syndrome [RCV001100819]	uncertain significance	1	160038987	160038987	Human	2	alternate_id
28893669	CV862514	single nucleotide variant	NM_002241.5(KCNJ10):c.*2242T>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV001101068]\|EAST syndrome [RCV001101067]\|not provided [RCV001785778]	benign\|likely benign\|uncertain significance	1	160039151	160039151	Human	2	alternate_id
28893673	CV862515	single nucleotide variant	NM_002241.5(KCNJ10):c.*2148A>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV001101070]\|EAST syndrome [RCV001101069]	benign\|uncertain significance	1	160039245	160039245	Human	2	alternate_id
28882951	CV862516	single nucleotide variant	NM_002241.5(KCNJ10):c.*2034C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV001097333]\|EAST syndrome [RCV001097334]\|not provided [RCV002251551]	likely benign\|uncertain significance	1	160039359	160039359	Human	2	alternate_id
28882955	CV862517	single nucleotide variant	NM_002241.5(KCNJ10):c.*2001T>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV001097336]\|EAST syndrome [RCV001097335]	uncertain significance	1	160039392	160039392	Human	2	alternate_id
28888415	CV862518	single nucleotide variant	NM_002241.5(KCNJ10):c.*1813C>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV001099089]\|EAST syndrome [RCV001099090]\|not provided [RCV001759866]	benign\|likely benign	1	160039580	160039580	Human	2	alternate_id
28888419	CV862519	single nucleotide variant	NM_002241.5(KCNJ10):c.*1809C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV001099091]\|EAST syndrome [RCV001099092]	uncertain significance	1	160039584	160039584	Human	2	alternate_id
28888427	CV862520	single nucleotide variant	NM_002241.5(KCNJ10):c.*1789G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV001099094]\|EAST syndrome [RCV001099093]	uncertain significance	1	160039604	160039604	Human	2	alternate_id
28893900	CV862521	single nucleotide variant	NM_002241.5(KCNJ10):c.*1498T>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV001101169]\|EAST syndrome [RCV001101168]	benign\|likely benign	1	160039895	160039895	Human	2	alternate_id
28893906	CV862522	single nucleotide variant	NM_002241.5(KCNJ10):c.*1430C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV001101170]\|EAST syndrome [RCV001101171]	benign\|likely benign	1	160039963	160039963	Human	2	alternate_id
28893912	CV862523	single nucleotide variant	NM_002241.5(KCNJ10):c.*1368C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV001101173]\|EAST syndrome [RCV001101172]	benign\|likely benign	1	160040025	160040025	Human	2	alternate_id
28883214	CV862524	single nucleotide variant	NM_002241.5(KCNJ10):c.*1258G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV001097427]\|EAST syndrome [RCV001097426]	uncertain significance	1	160040135	160040135	Human	2	alternate_id
28883218	CV862525	single nucleotide variant	NM_002241.5(KCNJ10):c.*1048A>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV001097428]\|EAST syndrome [RCV001097429]	uncertain significance	1	160040345	160040345	Human	2	alternate_id
28883510	CV862526	single nucleotide variant	NM_002241.5(KCNJ10):c.*1032G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV001097519]\|EAST syndrome [RCV001097518]\|not provided [RCV004711508]	benign\|likely benign	1	160040361	160040361	Human	2	alternate_id
28883521	CV862527	single nucleotide variant	NM_002241.5(KCNJ10):c.*1027C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV001097520]\|EAST syndrome [RCV001097521]\|not provided [RCV004711509]	benign\|likely benign	1	160040366	160040366	Human	2	alternate_id
28883527	CV862528	single nucleotide variant	NM_002241.5(KCNJ10):c.*868C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV001097522]\|EAST syndrome [RCV001097523]	uncertain significance	1	160040525	160040525	Human	2	alternate_id
28889037	CV862529	single nucleotide variant	NM_002241.5(KCNJ10):c.*793C>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV001099282]\|EAST syndrome [RCV001099283]	uncertain significance	1	160040600	160040600	Human	2	alternate_id
28894186	CV862530	single nucleotide variant	NM_002241.5(KCNJ10):c.*413G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV001101277]\|EAST syndrome [RCV001101278]\|not provided [RCV001683734]	benign\|likely benign	1	160040980	160040980	Human	2	alternate_id
28894191	CV862531	single nucleotide variant	NM_002241.5(KCNJ10):c.*347C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV001101279]\|EAST syndrome [RCV001101280]	uncertain significance	1	160041046	160041046	Human	2	alternate_id
28894195	CV862532	single nucleotide variant	NM_002241.5(KCNJ10):c.*266T>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV001101281]\|EAST syndrome [RCV001101282]	likely benign\|uncertain significance	1	160041127	160041127	Human	2	alternate_id
28878223	CV862533	single nucleotide variant	NM_002241.5(KCNJ10):c.*93C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV001095834]\|EAST syndrome [RCV001095833]\|not provided [RCV004711504]	benign\|likely benign	1	160041300	160041300	Human	2	alternate_id
28878227	CV862534	single nucleotide variant	NM_002241.5(KCNJ10):c.*89C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV001095835]\|EAST syndrome [RCV001095836]	benign\|likely benign	1	160041304	160041304	Human	2	alternate_id
28889329	CV862535	single nucleotide variant	NM_002241.5(KCNJ10):c.1047C>T (p.Tyr349=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001099390]\|EAST syndrome [RCV001099389]\|Inborn genetic diseases [RCV002402496]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	160041486	160041486	Human	3	alternate_id
28868491	CV897176	single nucleotide variant	NM_000441.1(SLC26A4):c.-40C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV001162526]\|Pendred syndrome [RCV001162527]	uncertain significance	7	107660819	107660819	Human	2	alternate_id
28872813	CV897177	single nucleotide variant	NM_000441.2(SLC26A4):c.190G>A (p.Val64Met)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001164585]\|Pendred syndrome [RCV001164584]	uncertain significance	7	107663321	107663321	Human	2	alternate_id
28872815	CV897178	single nucleotide variant	NM_000441.2(SLC26A4):c.278G>A (p.Ser93Asn)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001159668]\|Pendred syndrome [RCV001164586]	uncertain significance	7	107663409	107663409	Human	2	alternate_id
28907665	CV897179	single nucleotide variant	NM_000441.2(SLC26A4):c.310G>A (p.Ala104Thr)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001159670]\|Pendred syndrome [RCV001159669]	uncertain significance	7	107672143	107672143	Human	2	alternate_id
28907667	CV897180	single nucleotide variant	NM_000441.2(SLC26A4):c.364T>C (p.Phe122Leu)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001159671]\|Inborn genetic diseases [RCV002558502]\|Pendred syndrome [RCV001159672]	uncertain significance	7	107672197	107672197	Human	3	alternate_id
28868624	CV897181	single nucleotide variant	NM_000441.2(SLC26A4):c.540T>G (p.Ala180=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001161070]\|Pendred syndrome [RCV001162612]\|not provided [RCV003660861]	likely benign\|uncertain significance	7	107674288	107674288	Human	2	alternate_id
28868626	CV897182	single nucleotide variant	NM_000441.2(SLC26A4):c.678T>C (p.Ala226=)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001162613]\|Pendred syndrome [RCV001162614]\|not provided [RCV001414935]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	7	107675022	107675022	Human	2	alternate_id
28868959	CV897183	single nucleotide variant	NM_000441.2(SLC26A4):c.2078C>T (p.Ala693Val)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001161296]\|Pendred syndrome [RCV001162816]	uncertain significance	7	107704374	107704374	Human	2	alternate_id
28868961	CV897184	single nucleotide variant	NM_000441.2(SLC26A4):c.2119G>A (p.Gly707Arg)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001162817]\|Pendred syndrome [RCV001162818]\|not provided [RCV001836967]	uncertain significance	7	107710083	107710083	Human	2	alternate_id
28908218	CV897185	single nucleotide variant	NM_000441.2(SLC26A4):c.*16G>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV001159997]\|Pendred syndrome [RCV001159996]	uncertain significance	7	107715462	107715462	Human	2	alternate_id
28908222	CV897186	single nucleotide variant	NM_000441.2(SLC26A4):c.*36C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV001161412]\|Pendred syndrome [RCV001159998]	uncertain significance	7	107715482	107715482	Human	2	alternate_id
28910423	CV897187	single nucleotide variant	NM_000441.2(SLC26A4):c.*120G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV001161415]\|Pendred syndrome [RCV001161414]	uncertain significance	7	107715566	107715566	Human	2	alternate_id
28869095	CV897188	single nucleotide variant	NM_000441.2(SLC26A4):c.*200A>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV001162917]\|Pendred syndrome [RCV001161416]\|not provided [RCV004695035]	uncertain significance	7	107715646	107715646	Human	2	alternate_id
28869096	CV897189	single nucleotide variant	NM_000441.2(SLC26A4):c.*201C>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV001162918]\|Pendred syndrome [RCV001162919]	uncertain significance	7	107715647	107715647	Human	2	alternate_id
28869100	CV897190	single nucleotide variant	NM_000441.2(SLC26A4):c.*202G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV001162921]\|Pendred syndrome [RCV001162920]	uncertain significance	7	107715648	107715648	Human	2	alternate_id
28873713	CV897191	single nucleotide variant	NM_000441.2(SLC26A4):c.*350C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV001165030]\|Pendred syndrome [RCV001165031]\|not provided [RCV001843569]	likely benign\|uncertain significance	7	107715796	107715796	Human	2	alternate_id
28873717	CV897192	single nucleotide variant	NM_000441.2(SLC26A4):c.*351G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV001165033]\|Pendred syndrome [RCV001165032]	uncertain significance	7	107715797	107715797	Human	2	alternate_id
28873722	CV897193	single nucleotide variant	NM_000441.2(SLC26A4):c.*376A>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV001165035]\|Pendred syndrome [RCV001165034]\|not provided [RCV001813812]	likely benign\|uncertain significance	7	107715822	107715822	Human	2	alternate_id
28873728	CV897194	single nucleotide variant	NM_000441.2(SLC26A4):c.*397T>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV001158321]\|Pendred syndrome [RCV001165036]	uncertain significance	7	107715843	107715843	Human	2	alternate_id
28869300	CV897195	single nucleotide variant	NM_000441.2(SLC26A4):c.*1068T>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV001163032]\|Pendred syndrome [RCV001163033]	uncertain significance	7	107716514	107716514	Human	2	alternate_id
28873988	CV897196	single nucleotide variant	NM_000441.2(SLC26A4):c.*1302T>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV001165150]\|Pendred syndrome [RCV001165151]	benign\|likely benign	7	107716748	107716748	Human	2	alternate_id
28873991	CV897197	single nucleotide variant	NM_000441.2(SLC26A4):c.*1466T>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV001165153]\|Pendred syndrome [RCV001165152]	uncertain significance	7	107716912	107716912	Human	2	alternate_id
28905429	CV897198	single nucleotide variant	NM_000441.2(SLC26A4):c.*1558T>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV001158431]\|Pendred syndrome [RCV001158430]	uncertain significance	7	107717004	107717004	Human	2	alternate_id
28905432	CV897199	single nucleotide variant	NM_000441.2(SLC26A4):c.*1563C>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV001158433]\|Pendred syndrome [RCV001158432]	uncertain significance	7	107717009	107717009	Human	2	alternate_id
28910693	CV897200	single nucleotide variant	NM_000441.2(SLC26A4):c.*1672G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV001161632]\|Pendred syndrome [RCV001161631]	uncertain significance	7	107717118	107717118	Human	2	alternate_id
28910697	CV897201	single nucleotide variant	NM_000441.2(SLC26A4):c.*1682C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV001161634]\|Pendred syndrome [RCV001161633]	uncertain significance	7	107717128	107717128	Human	2	alternate_id
28910700	CV897202	single nucleotide variant	NM_000441.2(SLC26A4):c.*1700A>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV001161635]\|Pendred syndrome [RCV001161636]	uncertain significance	7	107717146	107717146	Human	2	alternate_id
28869538	CV897203	single nucleotide variant	NM_000441.2(SLC26A4):c.*1735C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV001163136]\|Pendred syndrome [RCV001161637]	uncertain significance	7	107717181	107717181	Human	2	alternate_id
28869540	CV897204	single nucleotide variant	NM_000441.2(SLC26A4):c.*1789G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV001163138]\|Pendred syndrome [RCV001163137]	uncertain significance	7	107717235	107717235	Human	2	alternate_id
28869545	CV897205	single nucleotide variant	NM_000441.2(SLC26A4):c.*1836C>T	Autosomal recessive nonsyndromic hearing loss 4 [RCV001163140]\|Pendred syndrome [RCV001163139]	uncertain significance	7	107717282	107717282	Human	2	alternate_id
28869549	CV897206	single nucleotide variant	NM_000441.2(SLC26A4):c.*1868C>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV001165251]\|Pendred syndrome [RCV001163141]	uncertain significance	7	107717314	107717314	Human	2	alternate_id
28874206	CV897207	single nucleotide variant	NM_000441.2(SLC26A4):c.*1905G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV001165253]\|Pendred syndrome [RCV001165252]	uncertain significance	7	107717351	107717351	Human	2	alternate_id
28874211	CV897208	single nucleotide variant	NM_000441.2(SLC26A4):c.*1945G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV001165255]\|Pendred syndrome [RCV001165254]	uncertain significance	7	107717391	107717391	Human	2	alternate_id
28905634	CV897209	single nucleotide variant	NM_000441.2(SLC26A4):c.*1982C>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV001158539]\|Pendred syndrome [RCV001158538]	uncertain significance	7	107717428	107717428	Human	2	alternate_id
28905638	CV897210	single nucleotide variant	NM_000441.2(SLC26A4):c.*2065G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV001158541]\|Pendred syndrome [RCV001158540]	uncertain significance	7	107717511	107717511	Human	2	alternate_id
28905642	CV897211	single nucleotide variant	NM_000441.2(SLC26A4):c.*2093T>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV001158542]\|Pendred syndrome [RCV001161744]	uncertain significance	7	107717539	107717539	Human	2	alternate_id
28910842	CV897212	single nucleotide variant	NM_000441.2(SLC26A4):c.*2237A>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV001161746]\|Pendred syndrome [RCV001161745]	uncertain significance	7	107717683	107717683	Human	2	alternate_id
28910843	CV897213	single nucleotide variant	NM_000441.2(SLC26A4):c.*2307A>G	Autosomal recessive nonsyndromic hearing loss 4 [RCV001161747]\|Pendred syndrome [RCV001161748]	uncertain significance	7	107717753	107717753	Human	2	alternate_id
28873469	CV900297	single nucleotide variant	NM_000441.2(SLC26A4):c.2236-15G>A	Autosomal recessive nonsyndromic hearing loss 4 [RCV001164906]\|Pendred syndrome [RCV001164907]\|not provided [RCV002557413]	likely benign\|uncertain significance	7	107712524	107712524	Human	2	alternate_id
28873472	CV900298	single nucleotide variant	NM_000441.2(SLC26A4):c.2236-6T>C	Autosomal recessive nonsyndromic hearing loss 4 [RCV001164908]\|Pendred syndrome [RCV001164909]\|not provided [RCV001426393]	likely benign\|uncertain significance	7	107712533	107712533	Human	2	alternate_id
38457101	CV921691	single nucleotide variant	NM_002241.5(KCNJ10):c.436C>T (p.Leu146Phe)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005049798]\|EAST syndrome [RCV001219503]	uncertain significance	1	160042097	160042097	Human	2	alternate_id
38487489	CV924578	duplication	NM_000441.2(SLC26A4):c.1343_1355dup (p.Val453fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV003473773]\|not provided [RCV001220758]	pathogenic\|likely pathogenic	7	107694621	107694622	Human	1	alternate_id
38488532	CV924579	single nucleotide variant	NM_000441.2(SLC26A4):c.2167C>G (p.His723Asp)	Autosomal recessive nonsyndromic hearing loss 4 [RCV001375680]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV004796376]\|Pendred syndrome [RCV003331083]\|not provided [RCV001221275]	pathogenic	7	107710131	107710131	Human	2	alternate_id
38467870	CV930100	single nucleotide variant	NM_002241.5(KCNJ10):c.241C>T (p.Leu81Phe)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002480661]\|EAST syndrome [RCV001202418]\|Inborn genetic diseases [RCV002451416]	uncertain significance	1	160042292	160042292	Human	4	alternate_id
42723416	CV984330	single nucleotide variant	NM_000441.2(SLC26A4):c.416G>T (p.Gly139Val)	Autosomal recessive nonsyndromic hearing loss 4 [RCV002051933]\|Autosomal recessive nonsyndromic hearing loss 4 [RCV005040133]\|Hearing loss, autosomal recessive [RCV001291245]\|Pendred syndrome [RCV001824946]\|not provided [RCV001378586]	pathogenic\|likely pathogenic	7	107674164	107674164	Human	4	alternate_id
42723463	CV984331	deletion	NM_000441.2(SLC26A4):c.2106del (p.Lys702fs)	Autosomal recessive nonsyndromic hearing loss 4 [RCV004698540]\|Hearing loss, autosomal recessive [RCV001291351]	pathogenic\|likely pathogenic	7	107710070	107710070	Human	3	alternate_id
126733534	CV986982	single nucleotide variant	NM_002241.5(KCNJ10):c.80G>A (p.Arg27Gln)	Autosomal recessive nonsyndromic hearing loss 4 [RCV005040153]\|EAST syndrome [RCV001304284]\|Inborn genetic diseases [RCV002539549]	uncertain significance	1	160042453	160042453	Human	3	alternate_id

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