Kcnj1 Variant Search Result - Rat Genome Database

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1003 records found for search term Kcnj1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8560931	CV24195	variation	KCNJ1, TRP58TER	Bartter disease type 2 [RCV000009726]	pathogenic				Human		name
155804247	CV1866682	single nucleotide variant	NM_153766.3(KCNJ1):c.*1C>G	Bartter disease type 2 [RCV002496210]	uncertain significance	11	128839124	128839124	Human	1	name
243057990	CV2405627	single nucleotide variant	NM_153766.3(KCNJ1):c.-9A>G	Bartter disease type 2 [RCV003133797]\|Inborn genetic diseases [RCV004246007]	uncertain significance	11	128840252	128840252	Human	2	name
405233497	CV2985544	single nucleotide variant	NM_153766.3(KCNJ1):c.-6G>T	not provided [RCV003711853]	pathogenic	11	128840249	128840249	Human		name
402518203	CV2992306	single nucleotide variant	NM_153766.3(KCNJ1):c.-7A>T	not provided [RCV003690022]	likely benign	11	128840250	128840250	Human		name
597722687	CV3723761	single nucleotide variant	NM_153766.3(KCNJ1):c.-2G>A	Bartter disease type 2 [RCV005050038]	uncertain significance	11	128840245	128840245	Human	1	name
8621378	CV75352	single nucleotide variant	NM_153766.3(KCNJ1):c.*5G>A	not provided [RCV000054574]	uncertain significance	11	128839120	128839120	Human		name
153000284	CV1683653	deletion	NM_153766.3(KCNJ1):c.*96del	not provided [RCV002254108]	likely benign	11	128839029	128839029	Human		name
405052861	CV3022251	single nucleotide variant	NM_153766.3(KCNJ1):c.-13G>A	not provided [RCV003697129]	likely benign	11	128840256	128840256	Human		name
11602618	CV313252	single nucleotide variant	NM_153766.3(KCNJ1):c.*16G>A	Bartter disease type 2 [RCV000291885]\|not provided [RCV001653485]	likely benign\|uncertain significance	11	128839109	128839109	Human	1	name
11621439	CV325502	single nucleotide variant	NM_153766.3(KCNJ1):c.*88G>A	Bartter disease type 2 [RCV000348465]	likely benign\|uncertain significance	11	128839037	128839037	Human	1	name
11624284	CV326461	single nucleotide variant	NM_153766.3(KCNJ1):c.*73A>T	Antenatal Bartter syndrome [RCV000383891]\|not provided [RCV001618526]	benign	11	128839052	128839052	Human	1	name
28897439	CV867551	single nucleotide variant	NM_153766.3(KCNJ1):c.*83G>A	Bartter disease type 2 [RCV001102595]	uncertain significance	11	128839042	128839042	Human	1	name
11599545	CV313220	single nucleotide variant	NM_153766.3(KCNJ1):c.*676A>G	Antenatal Bartter syndrome [RCV000266649]\|not provided [RCV004706829]	benign	11	128838449	128838449	Human	1	name
11604004	CV313223	single nucleotide variant	NM_153766.3(KCNJ1):c.*669A>G	Antenatal Bartter syndrome [RCV000305454]	likely benign	11	128838456	128838456	Human	1	name
11605316	CV313239	single nucleotide variant	NM_153766.3(KCNJ1):c.*507C>T	Bartter disease type 2 [RCV000318027]	likely benign\|uncertain significance	11	128838618	128838618	Human	1	name
11610900	CV313244	single nucleotide variant	NM_153766.3(KCNJ1):c.*348C>T	Bartter disease type 2 [RCV000387895]	benign\|uncertain significance	11	128838777	128838777	Human	1	name
11609089	CV319364	single nucleotide variant	NM_153766.3(KCNJ1):c.*964A>G	Bartter disease type 2 [RCV000363579]	uncertain significance	11	128838161	128838161	Human	1	name
11644323	CV325500	single nucleotide variant	NM_153766.3(KCNJ1):c.*452G>A	Bartter disease type 2 [RCV000259260]	uncertain significance	11	128838673	128838673	Human	1	name
11618694	CV325501	single nucleotide variant	NM_153766.3(KCNJ1):c.*382G>A	Bartter disease type 2 [RCV000317036]	uncertain significance	11	128838743	128838743	Human	1	name
11622249	CV326446	single nucleotide variant	NM_153766.3(KCNJ1):c.*597C>T	Antenatal Bartter syndrome [RCV000357906]\|not provided [RCV004693019]	uncertain significance	11	128838528	128838528	Human	1	name
11613138	CV326449	single nucleotide variant	NM_153766.3(KCNJ1):c.*553C>T	Bartter disease type 2 [RCV000265254]	uncertain significance	11	128838572	128838572	Human	1	name
11616592	CV326455	single nucleotide variant	NM_153766.3(KCNJ1):c.*141G>A	Antenatal Bartter syndrome [RCV000295927]	uncertain significance	11	128838984	128838984	Human	1	name
28907376	CV867547	single nucleotide variant	NM_153766.3(KCNJ1):c.*968T>A	Bartter disease type 2 [RCV001107172]	uncertain significance	11	128838157	128838157	Human	1	name
28907379	CV867548	single nucleotide variant	NM_153766.3(KCNJ1):c.*864G>T	Bartter disease type 2 [RCV001107173]	uncertain significance	11	128838261	128838261	Human	1	name
28907382	CV867549	single nucleotide variant	NM_153766.3(KCNJ1):c.*801C>T	Bartter disease type 2 [RCV001107174]\|not provided [RCV004704401]	likely benign	11	128838324	128838324	Human	1	name
28907385	CV867550	single nucleotide variant	NM_153766.3(KCNJ1):c.*737T>C	Bartter disease type 2 [RCV001107175]	uncertain significance	11	128838388	128838388	Human	1	name
11604179	CV313219	single nucleotide variant	NM_153766.3(KCNJ1):c.*1011C>T	Antenatal Bartter syndrome [RCV000306748]\|not provided [RCV004706828]	benign	11	128838114	128838114	Human	1	name
11626049	CV325499	single nucleotide variant	NM_153766.3(KCNJ1):c.*1045C>G	Antenatal Bartter syndrome [RCV000405965]\|not provided [RCV004706827]	benign	11	128838080	128838080	Human	1	name
405169113	CV3122375	single nucleotide variant	NM_153766.3(KCNJ1):c.-21-15T>C	not provided [RCV003818964]	likely benign	11	128840279	128840279	Human		name
597930366	CV3780243	single nucleotide variant	NM_153766.3(KCNJ1):c.-21-19T>C	not provided [RCV005116563]	likely benign	11	128840283	128840283	Human		name
150456135	CV1219310	single nucleotide variant	NM_153766.3(KCNJ1):c.-21-286A>G	not provided [RCV001612657]	benign	11	128840550	128840550	Human		name
150467259	CV1255877	deletion	NM_153766.3(KCNJ1):c.-21-250del	not provided [RCV001670511]	benign	11	128840514	128840514	Human		name
156025403	CV1917546	single nucleotide variant	NM_153766.3(KCNJ1):c.432G>A (p.Gln144=)	Bartter disease type 2 [RCV005045332]\|KCNJ1-related disorder [RCV003936595]\|not provided [RCV002619605]	likely benign	11	128839812	128839812	Human	1	alternate_id
11350950	CV236924	single nucleotide variant	NM_153766.3(KCNJ1):c.199A>G (p.Thr67Ala)	Antenatal Bartter syndrome [RCV000405256]\|KCNJ1-related disorder [RCV003967608]\|not provided [RCV000224679]	benign\|likely benign	11	128840045	128840045	Human	2	alternate_id
11350664	CV237296	single nucleotide variant	NM_153766.3(KCNJ1):c.1034A>G (p.Asp345Gly)	Bartter disease type 2 [RCV002485451]\|Inborn genetic diseases [RCV002516237]\|KCNJ1-related disorder [RCV004757978]\|not provided [RCV000224168]	uncertain significance	11	128839210	128839210	Human	2	alternate_id
8598183	CV24197	single nucleotide variant	NM_153766.3(KCNJ1):c.1013T>C (p.Met338Thr)	Bartter disease type 2 [RCV000009728]\|KCNJ1-related disorder [RCV003914824]\|not provided [RCV000224891]\|not specified [RCV000202885]	pathogenic\|benign\|likely benign	11	128839231	128839231	Human	1	alternate_id
11603766	CV313256	single nucleotide variant	NM_153766.3(KCNJ1):c.568C>T (p.Leu190Phe)	Bartter disease type 2 [RCV000303362]\|KCNJ1-related disorder [RCV003910112]\|not provided [RCV000901985]	likely benign\|uncertain significance	11	128839676	128839676	Human	1	alternate_id
408384479	CV3505434	single nucleotide variant	NM_153766.3(KCNJ1):c.905G>A (p.Trp302Ter)	KCNJ1-related disorder [RCV004731845]	likely pathogenic	11	128839339	128839339	Human		alternate_id
15113560	CV752540	single nucleotide variant	NM_153766.3(KCNJ1):c.534C>T (p.Asn178=)	KCNJ1-related disorder [RCV003970443]\|not provided [RCV000917115]	likely benign	11	128839710	128839710	Human	1	alternate_id
15154498	CV752541	single nucleotide variant	NM_153766.3(KCNJ1):c.522G>A (p.Thr174=)	KCNJ1-related disorder [RCV003933124]\|not provided [RCV000924271]	likely benign	11	128839722	128839722	Human	1	alternate_id
15113928	CV752543	single nucleotide variant	NM_153766.3(KCNJ1):c.156G>A (p.Thr52=)	KCNJ1-related disorder [RCV003950845]\|not provided [RCV000917184]	likely benign	11	128840088	128840088	Human	1	alternate_id
40904805	CV978891	single nucleotide variant	NM_000525.4(KCNJ11):c.-6G>A	Permanent neonatal diabetes mellitus [RCV001277857]	uncertain significance	11	17388097	17388097	Human	1	name
150466712	CV1268819	deletion	NM_002241.5(KCNJ10):c.-44del	not provided [RCV001694516]	benign	1	160070065	160070065	Human		name
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	name , 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	name , alternate_id
11584321	CV277682	single nucleotide variant	NM_002241.5(KCNJ10):c.*52G>A	Nonsyndromic Hearing Loss, Mixed [RCV000272817]\|Pendred syndrome [RCV000364085]\|Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome [RCV000325700]	uncertain significance	1	160041341	160041341	Human	3	name
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	name , alternate_id
11583367	CV285369	single nucleotide variant	NM_002242.4(KCNJ13):c.-74C>T	Leber congenital amaurosis 16 [RCV000266316]	uncertain significance	2	232776502	232776502	Human	1	name
11659029	CV286006	single nucleotide variant	NM_002242.4(KCNJ13):c.-73T>C	Leber congenital amaurosis 16 [RCV000354277]	uncertain significance	2	232776501	232776501	Human	1	name
11586649	CV288340	single nucleotide variant	NM_002242.4(KCNJ13):c.*94A>C	Leber congenital amaurosis 16 [RCV000289589]	uncertain significance	2	232768097	232768097	Human	1	name
11599990	CV313375	single nucleotide variant	NM_000525.4(KCNJ11):c.*76G>A	Diabetes mellitus, transient neonatal, 3 [RCV000364822]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV000269972]\|Maturity onset diabetes mellitus in young [RCV002227140]\|Maturity-onset diabetes of the young type 13 [RCV000310119]\|not provided [RCV001582937]	benign\|likely benign\|uncertain significance	11	17386843	17386843	Human	4	name
11648339	CV319474	single nucleotide variant	NM_000525.4(KCNJ11):c.*99C>G	Diabetes mellitus, transient neonatal, 3 [RCV000401264]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV000336289]\|Maturity onset diabetes mellitus in young [RCV002227138]\|Maturity-onset diabetes of the young type 13 [RCV000281193]	uncertain significance	11	17386820	17386820	Human	4	name
11604075	CV319475	single nucleotide variant	NM_000525.4(KCNJ11):c.*92C>T	Diabetes mellitus, transient neonatal, 3 [RCV000359002]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV000406730]\|Maturity onset diabetes mellitus in young [RCV002227139]\|Maturity-onset diabetes of the young type 13 [RCV000305876]\|not provided [RCV001565266]	benign\|likely benign\|uncertain significance	11	17386827	17386827	Human	4	name
11600703	CV319487	single nucleotide variant	NM_000525.4(KCNJ11):c.*62G>A	Diabetes mellitus, transient neonatal, 3 [RCV000370291]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV000324987]\|Maturity onset diabetes mellitus in young [RCV002227141]\|Maturity-onset diabetes of the young type 13 [RCV000275742]	benign\|likely benign\|uncertain significance	11	17386857	17386857	Human	5	name
11648505	CV326656	single nucleotide variant	NM_000525.4(KCNJ11):c.*50G>A	Diabetes mellitus, transient neonatal, 3 [RCV000385824]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV000331277]\|Maturity onset diabetes mellitus in young [RCV002227142]\|Maturity-onset diabetes of the young type 13 [RCV000282108]	uncertain significance	11	17386869	17386869	Human	4	name
11614629	CV326657	single nucleotide variant	NM_000525.4(KCNJ11):c.*40C>T	Diabetes mellitus, transient neonatal, 3 [RCV000318429]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV000278382]\|Maturity onset diabetes mellitus in young [RCV002227143]\|Maturity-onset diabetes of the young type 13 [RCV000372913]	benign\|likely benign\|uncertain significance	11	17386879	17386879	Human	4	name
407573125	CV3498925	single nucleotide variant	NM_000525.4(KCNJ11):c.*14G>A	Maturity-onset diabetes of the young type 13 [RCV004798079]\|not specified [RCV004699895]	uncertain significance	11	17386905	17386905	Human	1	name
617152254	CV4018339	single nucleotide variant	NM_000525.4(KCNJ11):c.*13C>T	not specified [RCV005418599]	uncertain significance	11	17386906	17386906	Human		name
13538592	CV498185	single nucleotide variant	NM_002241.5(KCNJ10):c.-36G>T	not specified [RCV000612058]	likely benign	1	160070057	160070057	Human		name
13782640	CV546130	single nucleotide variant	NM_000525.4(KCNJ11):c.-54C>T	Diabetes mellitus, transient neonatal, 3 [RCV002485547]\|Diabetes mellitus, transient neonatal, 3 [RCV005430616]\|Maturity onset diabetes mellitus in young [RCV002227201]	uncertain significance	11	17388145	17388145	Human	3	name
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	name , 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	name , alternate_id
28906574	CV867612	single nucleotide variant	NM_000525.4(KCNJ11):c.-37C>T	Diabetes mellitus, transient neonatal, 3 [RCV001106733]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV001106734]\|Maturity onset diabetes mellitus in young [RCV002271620]\|Maturity-onset diabetes of the young type 13 [RCV001106735]	uncertain significance	11	17388128	17388128	Human	4	name
28902853	CV884183	single nucleotide variant	NM_002242.4(KCNJ13):c.*68T>C	Leber congenital amaurosis 16 [RCV001143769]	uncertain significance	2	232768123	232768123	Human	1	name
150422539	CV1179128	single nucleotide variant	NM_002241.5(KCNJ10):c.*137G>A	not provided [RCV001552777]	likely benign	1	160041256	160041256	Human		name
150486047	CV1280903	single nucleotide variant	NM_002241.5(KCNJ10):c.1-84T>C	not provided [RCV001715720]	benign	1	160042616	160042616	Human		name
150471550	CV1281011	deletion	NM_170741.4(KCNJ16):c.*150del	not provided [RCV001713209]	benign	17	70133494	70133494	Human		name
151355847	CV1327031	duplication	NM_000525.4(KCNJ11):c.-314dup	not specified [RCV001822200]	uncertain significance	11	17388404	17388405	Human		name
151354110	CV1327662	single nucleotide variant	NM_000525.4(KCNJ11):c.-216G>T	not specified [RCV001817606]	uncertain significance	11	17388307	17388307	Human		name
151354693	CV1327760	single nucleotide variant	NM_000525.4(KCNJ11):c.-291G>T	not specified [RCV001819235]	uncertain significance	11	17388382	17388382	Human		name
151355094	CV1328161	single nucleotide variant	NM_000525.4(KCNJ11):c.-111C>T	not specified [RCV001819637]	uncertain significance	11	17388202	17388202	Human		name
151355503	CV1328570	duplication	NM_000525.4(KCNJ11):c.-507dup	not specified [RCV001820575]	uncertain significance	11	17388597	17388598	Human		name
152978234	CV1671438	single nucleotide variant	NM_000525.4(KCNJ11):c.-154G>A	Maturity onset diabetes mellitus in young [RCV002227397]	uncertain significance	11	17388245	17388245	Human	1	name
10397635	CV201063	single nucleotide variant	NM_002241.5(KCNJ10):c.-1+1G>T	not provided [RCV000187813]	likely pathogenic	1	160070021	160070021	Human		name
155962808	CV2132009	single nucleotide variant	NM_000525.4(KCNJ11):c.-134G>A	not provided [RCV002995240]	uncertain significance	11	17388225	17388225	Human		name
8560634	CV23713	single nucleotide variant	NM_000525.4(KCNJ11):c.-134G>T	Hyperinsulinemic hypoglycemia, familial, 2 [RCV000009209]\|Maturity onset diabetes mellitus in young [RCV002226639]\|not provided [RCV002512936]\|not specified [RCV004799736]	pathogenic\|uncertain significance	11	17388225	17388225	Human	2	name
11651247	CV276786	single nucleotide variant	NM_002241.5(KCNJ10):c.*783A>G	Nonsyndromic Hearing Loss, Mixed [RCV000355793]\|Pendred syndrome [RCV000405793]\|Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome [RCV000297690]	uncertain significance	1	160040610	160040610	Human	3	name
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	name , 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	name , alternate_id
11657891	CV276789	single nucleotide variant	NM_002241.4(KCNJ10):c.-168C>A	Nonsyndromic Hearing Loss, Mixed [RCV000389622]\|Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome [RCV000345098]	uncertain significance	1	160070189	160070189	Human	2	name
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	name , 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	name , 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	name , alternate_id
11593141	CV277074	single nucleotide variant	NM_002241.4(KCNJ10):c.-183C>T	Nonsyndromic Hearing Loss, Mixed [RCV000381065]\|Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome [RCV000346004]	uncertain significance	1	160070204	160070204	Human	2	name
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	name , 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	name , alternate_id
11582493	CV285360	single nucleotide variant	NM_002242.4(KCNJ13):c.*619C>T	Leber congenital amaurosis 16 [RCV000260133]	uncertain significance	2	232767572	232767572	Human	1	name
11586329	CV285368	single nucleotide variant	NM_002242.4(KCNJ13):c.*290T>C	Leber congenital amaurosis 16 [RCV000287399]	uncertain significance	2	232767901	232767901	Human	1	name
11647239	CV285978	single nucleotide variant	NM_002242.4(KCNJ13):c.*957A>G	Leber congenital amaurosis 16 [RCV000275494]	uncertain significance	2	232767234	232767234	Human	1	name
11595882	CV285992	single nucleotide variant	NM_002242.4(KCNJ13):c.*692T>C	Leber congenital amaurosis 16 [RCV000375787]	uncertain significance	2	232767499	232767499	Human	1	name
11590321	CV285996	single nucleotide variant	NM_002242.4(KCNJ13):c.*371T>C	Leber congenital amaurosis 16 [RCV000317854]	uncertain significance	2	232767820	232767820	Human	1	name
11661729	CV285997	single nucleotide variant	NM_002242.4(KCNJ13):c.*342A>G	Leber congenital amaurosis 16 [RCV000379488]	uncertain significance	2	232767849	232767849	Human	1	name
11586825	CV286004	single nucleotide variant	NM_002242.4(KCNJ13):c.*135A>G	Leber congenital amaurosis 16 [RCV000290406]\|not provided [RCV004708554]	benign\|likely benign	2	232768056	232768056	Human	1	name
11593303	CV286005	single nucleotide variant	NM_002242.4(KCNJ13):c.*121A>G	Leber congenital amaurosis 16 [RCV000347728]	uncertain significance	2	232768070	232768070	Human	1	name
11590396	CV288317	single nucleotide variant	NM_002242.4(KCNJ13):c.*761C>T	Leber congenital amaurosis 16 [RCV000318858]	likely benign\|uncertain significance	2	232767430	232767430	Human	1	name
11592551	CV288318	single nucleotide variant	NM_002242.4(KCNJ13):c.*256G>A	Leber congenital amaurosis 16 [RCV000340018]	uncertain significance	2	232767935	232767935	Human	1	name
11664357	CV288339	single nucleotide variant	NM_002242.4(KCNJ13):c.*102T>G	Leber congenital amaurosis 16 [RCV000405031]	uncertain significance	2	232768089	232768089	Human	1	name
11590902	CV288767	single nucleotide variant	NM_002242.4(KCNJ13):c.-110A>T	Leber congenital amaurosis 16 [RCV000323779]	uncertain significance	2	232776538	232776538	Human	1	name
11601137	CV313371	single nucleotide variant	NM_000525.4(KCNJ11):c.*862G>T	Diabetes mellitus, transient neonatal, 3 [RCV000374547]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV000319941]\|Maturity onset diabetes mellitus in young [RCV002227126]\|Maturity-onset diabetes of the young type 13 [RCV000279972]	likely benign\|uncertain significance	11	17386057	17386057	Human	4	name
11644389	CV313372	single nucleotide variant	NM_000525.4(KCNJ11):c.*678C>T	Diabetes mellitus, transient neonatal, 3 [RCV000372960]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV000259628]\|Maturity onset diabetes mellitus in young [RCV002227131]\|Maturity-onset diabetes of the young type 13 [RCV000323280]	uncertain significance	11	17386241	17386241	Human	4	name
11648749	CV313374	single nucleotide variant	NM_000525.4(KCNJ11):c.*546G>A	Diabetes mellitus, transient neonatal, 3 [RCV000347682]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV000377979]\|Maturity onset diabetes mellitus in young [RCV002273821]\|Maturity-onset diabetes of the young type 13 [RCV000283368]	uncertain significance	11	17386373	17386373	Human	4	name
11650623	CV313385	single nucleotide variant	NM_000525.4(KCNJ11):c.-150G>A	Diabetes mellitus, transient neonatal, 3 [RCV000337073]\|Diabetes mellitus, transient neonatal, 3 [RCV002480108]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV000293825]\|Maturity onset diabetes mellitus in young [RCV002227146]\|Maturity-onset diabetes of the young type 13 [RCV000397517]	uncertain significance	11	17388241	17388241	Human	5	name
11665427	CV313386	single nucleotide variant	NM_000525.4(KCNJ11):c.-498T>C	Diabetes mellitus, transient neonatal, 3 [RCV001093947]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV001093946]\|Hyperinsulinism, Dominant/Recessive [RCV000270522]\|KCNJ11-related disorder [RCV004734965]\|Maturity onset diabetes mellitus in young [RCV000310444]\|M ... (more) aturity-onset diabetes of the young type 13 [RCV001103741]\|Permanent neonatal diabetes mellitus [RCV000404230]\|Transient Neonatal Diabetes, Dominant [RCV000307819]\|not specified [RCV001820889]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	17388589	17388589	Human	9	name , alternate_id
11647055	CV313387	single nucleotide variant	NM_000525.4(KCNJ11):c.-515G>A	Diabetes mellitus, transient neonatal, 3 [RCV000389519]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV000332685]\|Maturity onset diabetes mellitus in young [RCV002227148]\|Maturity-onset diabetes of the young type 13 [RCV000274150]	uncertain significance	11	17388606	17388606	Human	4	name
405276037	CV3193246	single nucleotide variant	NM_000525.4(KCNJ11):c.-508T>G	KCNJ11-related disorder [RCV004542545]	likely benign	11	17388599	17388599	Human		name , alternate_id
11600758	CV319464	single nucleotide variant	NM_000525.4(KCNJ11):c.*697G>A	Diabetes mellitus, transient neonatal, 3 [RCV000370800]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV000276258]\|Maturity onset diabetes mellitus in young [RCV002227129]\|Maturity-onset diabetes of the young type 13 [RCV000312533]	benign\|uncertain significance	11	17386222	17386222	Human	4	name
11604928	CV319466	single nucleotide variant	NM_000525.4(KCNJ11):c.*487A>G	Diabetes mellitus, transient neonatal, 3 [RCV000400803]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV000314150]\|Maturity onset diabetes mellitus in young [RCV002227133]\|Maturity-onset diabetes of the young type 13 [RCV000350318]\|not provided [RCV002469123]	benign\|likely benign\|uncertain significance	11	17386432	17386432	Human	4	name
11598835	CV319467	single nucleotide variant	NM_000525.4(KCNJ11):c.*376C>T	Diabetes mellitus, transient neonatal, 3 [RCV000360968]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV000260466]\|Maturity onset diabetes mellitus in young [RCV002227135]\|Maturity-onset diabetes of the young type 13 [RCV000296889]\|not provided [RCV001778890]	benign\|likely benign\|uncertain significance	11	17386543	17386543	Human	4	name
11600422	CV319469	single nucleotide variant	NM_000525.4(KCNJ11):c.*288G>A	Diabetes mellitus, transient neonatal, 3 [RCV000273280]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV000328163]\|Maturity onset diabetes mellitus in young [RCV002274012]\|Maturity-onset diabetes of the young type 13 [RCV000382740]\|not provided [RCV001570606]	benign\|likely benign\|uncertain significance	11	17386631	17386631	Human	4	name
11602821	CV319470	single nucleotide variant	NM_000525.4(KCNJ11):c.*215C>T	Diabetes mellitus, transient neonatal, 3 [RCV000293997]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV000395953]\|Maturity-onset diabetes of the young type 13 [RCV000348877]\|Type 2 diabetes mellitus [RCV002226705]\|not provided [RCV001523527]	benign\|likely benign	11	17386704	17386704	Human	6	name
11600197	CV319490	single nucleotide variant	NM_000525.4(KCNJ11):c.-179C>T	Diabetes mellitus, transient neonatal, 3 [RCV000357939]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV000271683]\|Maturity onset diabetes mellitus in young [RCV002227147]\|Maturity-onset diabetes of the young type 13 [RCV000305542]	uncertain significance	11	17388270	17388270	Human	4	name
11648474	CV319491	single nucleotide variant	NM_000525.4(KCNJ11):c.-546G>T	Diabetes mellitus, transient neonatal, 3 [RCV000331620]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV000281794]\|Maturity onset diabetes mellitus in young [RCV002227149]\|Maturity-onset diabetes of the young type 13 [RCV000374588]	uncertain significance	11	17388637	17388637	Human	4	name
11650435	CV325610	single nucleotide variant	NM_000525.4(KCNJ11):c.*937C>T	Diabetes mellitus, transient neonatal, 3 [RCV000332681]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV000387236]\|Maturity onset diabetes mellitus in young [RCV002227125]\|Maturity-onset diabetes of the young type 13 [RCV000292733]	uncertain significance	11	17385982	17385982	Human	4	name
11653337	CV325613	single nucleotide variant	NM_000525.4(KCNJ11):c.*732C>T	Diabetes mellitus, transient neonatal, 3 [RCV000398423]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV000340477]\|Maturity onset diabetes mellitus in young [RCV002227127]\|Maturity-onset diabetes of the young type 13 [RCV000310201]	uncertain significance	11	17386187	17386187	Human	4	name
11617640	CV325623	single nucleotide variant	NM_000525.4(KCNJ11):c.*701A>T	Diabetes mellitus, transient neonatal, 3 [RCV000390323]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV000306252]\|Maturity onset diabetes mellitus in young [RCV002227128]\|Maturity-onset diabetes of the young type 13 [RCV000346374]	uncertain significance	11	17386218	17386218	Human	4	name
11615856	CV325624	single nucleotide variant	NM_000525.4(KCNJ11):c.*529G>A	Diabetes mellitus, transient neonatal, 3 [RCV000289457]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV000383835]\|Maturity onset diabetes mellitus in young [RCV002227132]\|Maturity-onset diabetes of the young type 13 [RCV000344337]	benign\|uncertain significance	11	17386390	17386390	Human	4	name
11645827	CV325625	single nucleotide variant	NM_000525.4(KCNJ11):c.*311C>T	Diabetes mellitus, transient neonatal, 3 [RCV000322553]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV000267407]\|Maturity onset diabetes mellitus in young [RCV002227136]\|Maturity-onset diabetes of the young type 13 [RCV000377046]	uncertain significance	11	17386608	17386608	Human	4	name
11665846	CV325626	single nucleotide variant	NM_000525.4(KCNJ11):c.-154G>T	Diabetes mellitus, transient neonatal, 3 [RCV001094071]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV001094070]\|Hyperinsulinism, Dominant/Recessive [RCV000351890]\|Maturity onset diabetes mellitus in young [RCV000297419]\|Maturity-onset diabetes of the young type 13 [RCV001108897]\|Permanent neonatal ... (more) diabetes mellitus [RCV000311097]\|Transient Neonatal Diabetes, Dominant [RCV000335735]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	17388245	17388245	Human	7	name
11612869	CV326650	single nucleotide variant	NM_000525.4(KCNJ11):c.*686A>G	Diabetes mellitus, transient neonatal, 3 [RCV000318210]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV000367236]\|Maturity onset diabetes mellitus in young [RCV002227130]\|Maturity-onset diabetes of the young type 13 [RCV000263097]	benign\|uncertain significance	11	17386233	17386233	Human	4	name
11617140	CV326654	single nucleotide variant	NM_000525.4(KCNJ11):c.*441T>C	Diabetes mellitus, transient neonatal, 3 [RCV000400519]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV000356199]\|Maturity-onset diabetes of the young type 13 [RCV000301359]\|Type 2 diabetes mellitus [RCV002227134]\|not provided [RCV001618527]	likely risk allele\|benign\|likely benign	11	17386478	17386478	Human	6	name
11649629	CV326655	single nucleotide variant	NM_000525.4(KCNJ11):c.*218G>T	Diabetes mellitus, transient neonatal, 3 [RCV000288384]\|Diabetes mellitus, transient neonatal, 3 [RCV002502204]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV000352710]\|Maturity onset diabetes mellitus in young [RCV002227137]\|Maturity-onset diabetes of the young type 13 [RCV000388356]	uncertain significance	11	17386701	17386701	Human	5	name
11665449	CV326666	single nucleotide variant	NM_000525.4(KCNJ11):c.-559G>C	Diabetes mellitus, transient neonatal, 3 [RCV001093988]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV001093987]\|Hyperinsulinism, Dominant/Recessive [RCV000309064]\|Maturity onset diabetes mellitus in young [RCV000315800]\|Maturity-onset diabetes of the young type 13 [RCV001105685]\|Permanent neonatal ... (more) diabetes mellitus [RCV000272551]\|Transient Neonatal Diabetes, Dominant [RCV000285187]\|not specified [RCV001820890]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	17388650	17388650	Human	7	name
12840019	CV364545	single nucleotide variant	NM_002241.5(KCNJ10):c.1-20T>G	not specified [RCV000429906]	likely benign	1	160042552	160042552	Human		name
12835164	CV364579	single nucleotide variant	NM_002241.5(KCNJ10):c.-1+1G>A	not provided [RCV000421213]	uncertain significance	1	160070021	160070021	Human		name
13217112	CV429192	deletion	NM_000525.4(KCNJ11):c.-507del	not provided [RCV001597148]\|not specified [RCV000500508]	benign	11	17388598	17388598	Human		name
13525919	CV506140	single nucleotide variant	NM_170741.4(KCNJ16):c.-191+1=	not provided [RCV004710155]\|not specified [RCV000603542]	benign	17	70100767	70100767	Human		name
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	name , 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	name , 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	name , 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	name , 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	name , alternate_id
28909581	CV867604	single nucleotide variant	NM_000525.4(KCNJ11):c.*849C>G	Diabetes mellitus, transient neonatal, 3 [RCV001108475]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV001108474]\|Maturity onset diabetes mellitus in young [RCV002271621]\|Maturity-onset diabetes of the young type 13 [RCV001108473]	uncertain significance	11	17386070	17386070	Human	4	name
28899211	CV867605	single nucleotide variant	NM_000525.4(KCNJ11):c.*848A>G	Diabetes mellitus, transient neonatal, 3 [RCV001103291]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV001103290]\|Maturity onset diabetes mellitus in young [RCV002227243]\|Maturity-onset diabetes of the young type 13 [RCV001108476]	benign\|uncertain significance	11	17386071	17386071	Human	4	name
28899217	CV867606	single nucleotide variant	NM_000525.4(KCNJ11):c.*842C>G	Diabetes mellitus, transient neonatal, 3 [RCV001103294]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV001103292]\|Maturity onset diabetes mellitus in young [RCV002227244]\|Maturity-onset diabetes of the young type 13 [RCV001103293]	uncertain significance	11	17386077	17386077	Human	4	name
28899220	CV867607	single nucleotide variant	NM_000525.4(KCNJ11):c.*766G>A	Diabetes mellitus, transient neonatal, 3 [RCV001103296]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV001103295]\|Maturity onset diabetes mellitus in young [RCV002227245]\|Maturity-onset diabetes of the young type 13 [RCV001103297]\|not provided [RCV002281159]	benign\|likely benign\|uncertain significance	11	17386153	17386153	Human	4	name
28900256	CV867613	single nucleotide variant	NM_000525.4(KCNJ11):c.-424C>T	Diabetes mellitus, transient neonatal, 3 [RCV001103740]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV001103738]\|Maturity onset diabetes mellitus in young [RCV002226755]\|Maturity-onset diabetes of the young type 13 [RCV001103739]	uncertain significance	11	17388515	17388515	Human	4	name
28891292	CV884177	single nucleotide variant	NM_002242.4(KCNJ13):c.*856A>G	Leber congenital amaurosis 16 [RCV001139341]	uncertain significance	2	232767335	232767335	Human	1	name
28891294	CV884178	single nucleotide variant	NM_002242.4(KCNJ13):c.*784T>C	Leber congenital amaurosis 16 [RCV001139342]	uncertain significance	2	232767407	232767407	Human	1	name
28891298	CV884179	single nucleotide variant	NM_002242.4(KCNJ13):c.*620G>A	Leber congenital amaurosis 16 [RCV001139343]	uncertain significance	2	232767571	232767571	Human	1	name
28891301	CV884180	single nucleotide variant	NM_002242.4(KCNJ13):c.*615C>T	Leber congenital amaurosis 16 [RCV001139344]	uncertain significance	2	232767576	232767576	Human	1	name
28891303	CV884181	single nucleotide variant	NM_002242.4(KCNJ13):c.*467A>C	Leber congenital amaurosis 16 [RCV001139345]	uncertain significance	2	232767724	232767724	Human	1	name
28898397	CV884182	single nucleotide variant	NM_002242.4(KCNJ13):c.*326A>G	Leber congenital amaurosis 16 [RCV001141965]	uncertain significance	2	232767865	232767865	Human	1	name
126728574	CV1003797	single nucleotide variant	NM_002242.4(KCNJ13):c.460+6T>C	not provided [RCV001312546]	uncertain significance	2	232770897	232770897	Human		name
151716340	CV1334658	single nucleotide variant	NM_002241.5(KCNJ10):c.*2803T>G	not provided [RCV001843615]	likely benign	1	160038590	160038590	Human		name
152978232	CV1671434	single nucleotide variant	NM_000525.4(KCNJ11):c.*1415G>C	Maturity onset diabetes mellitus in young [RCV002227393]	uncertain significance	11	17385504	17385504	Human	1	name
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	name , 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	name , 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	name , 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	name , 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	name , 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	name , 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	name , 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	name , 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	name , 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	name , 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	name , 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	name , 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	name , 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	name , 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	name , 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	name , 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	name , alternate_id
11579438	CV277056	single nucleotide variant	NM_002241.5(KCNJ10):c.*2459T>G	Nonsyndromic Hearing Loss, Mixed [RCV000303677]\|Pendred syndrome [RCV000406779]\|Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome [RCV000343397]	uncertain significance	1	160038934	160038934	Human	3	name
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	name , 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	name , 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	name , 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	name , 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	name , alternate_id
11654637	CV277618	single nucleotide variant	NM_002241.5(KCNJ10):c.*2530G>C	Nonsyndromic Hearing Loss, Mixed [RCV000319488]\|Pendred syndrome [RCV000260756]\|Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome [RCV000355520]	uncertain significance	1	160038863	160038863	Human	3	name
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	name , 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	name , 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	name , 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	name , 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	name , 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	name , 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	name , 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	name , 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	name , alternate_id
11597729	CV285325	single nucleotide variant	NM_002242.4(KCNJ13):c.*1867T>C	Leber congenital amaurosis 16 [RCV000397480]	uncertain significance	2	232766324	232766324	Human	1	name
11588443	CV285340	single nucleotide variant	NM_002242.4(KCNJ13):c.*1839A>G	Leber congenital amaurosis 16 [RCV000302953]	benign\|likely benign	2	232766352	232766352	Human	1	name
11658040	CV285341	single nucleotide variant	NM_002242.4(KCNJ13):c.*1804G>A	Leber congenital amaurosis 16 [RCV000346179]	uncertain significance	2	232766387	232766387	Human	1	name
11635087	CV285348	duplication	NM_002242.4(KCNJ13):c.*1742dup	Leber congenital amaurosis [RCV000306471]	uncertain significance	2	232766448	232766449	Human	1	name
11595100	CV285358	single nucleotide variant	NM_002242.4(KCNJ13):c.*1088T>C	Leber congenital amaurosis 16 [RCV000366853]	uncertain significance	2	232767103	232767103	Human	1	name
11663591	CV285973	single nucleotide variant	NM_002242.4(KCNJ13):c.*1758T>A	Leber congenital amaurosis 16 [RCV000397488]	uncertain significance	2	232766433	232766433	Human	1	name
11594796	CV285974	single nucleotide variant	NM_002242.4(KCNJ13):c.*1500G>A	Leber congenital amaurosis 16 [RCV000363316]	uncertain significance	2	232766691	232766691	Human	1	name
11592807	CV288312	single nucleotide variant	NM_002242.4(KCNJ13):c.*1881T>A	Leber congenital amaurosis 16 [RCV000342736]	uncertain significance	2	232766310	232766310	Human	1	name
11589947	CV288315	single nucleotide variant	NM_002242.4(KCNJ13):c.*1201C>T	Leber congenital amaurosis 16 [RCV000314496]\|not provided [RCV003221933]	benign\|uncertain significance	2	232766990	232766990	Human	1	name
11587711	CV288344	microsatellite	NM_002242.4(KCNJ13):c.-74CT[1]	Leber congenital amaurosis [RCV000297093]	likely benign	2	232776499	232776500	Human		name
11586096	CV288739	single nucleotide variant	NM_002242.4(KCNJ13):c.*2324C>T	Leber congenital amaurosis 16 [RCV000285460]\|not provided [RCV004694540]	uncertain significance	2	232765867	232765867	Human	1	name
11600226	CV319461	single nucleotide variant	NM_000525.4(KCNJ11):c.*1168G>A	Diabetes mellitus, transient neonatal, 3 [RCV000366548]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV000271900]\|Maturity onset diabetes mellitus in young [RCV002227123]\|Maturity-onset diabetes of the young type 13 [RCV000302622]\|not provided [RCV002244750]	benign\|likely benign\|uncertain significance	11	17385751	17385751	Human	4	name
11647681	CV319463	single nucleotide variant	NM_000525.4(KCNJ11):c.*1055T>A	Diabetes mellitus, transient neonatal, 3 [RCV000277629]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV000327063]\|Maturity onset diabetes mellitus in young [RCV002227124]\|Maturity-onset diabetes of the young type 13 [RCV000363039]	uncertain significance	11	17385864	17385864	Human	4	name
11648824	CV326645	single nucleotide variant	NM_000525.4(KCNJ11):c.*1562A>G	Diabetes mellitus, transient neonatal, 3 [RCV000283800]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV000402133]\|Maturity onset diabetes mellitus in young [RCV002227122]\|Maturity-onset diabetes of the young type 13 [RCV000341182]	uncertain significance	11	17385357	17385357	Human	4	name
11617596	CV326649	single nucleotide variant	NM_000525.4(KCNJ11):c.*1197G>A	Diabetes mellitus, transient neonatal, 3 [RCV000360912]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV000407199]\|Maturity onset diabetes mellitus in young [RCV002274011]\|Maturity-onset diabetes of the young type 13 [RCV000306184]\|not provided [RCV003409468]	benign\|likely benign\|uncertain significance	11	17385722	17385722	Human	4	name
13536247	CV498107	single nucleotide variant	NM_002241.5(KCNJ10):c.-1+11G>A	not specified [RCV000608720]	likely benign	1	160070011	160070011	Human		name
14743415	CV657122	single nucleotide variant	NM_002241.5(KCNJ10):c.1-171C>T	not provided [RCV000842042]	benign	1	160042703	160042703	Human		name
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	name , 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	name , 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	name , 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	name , 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	name , 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	name , 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	name , 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	name , 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	name , 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	name , 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	name , 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	name , 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	name , 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	name , 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	name , 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	name , 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	name , 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	name , 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	name , 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	name , 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	name , 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	name , 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	name , 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	name , 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	name , 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	name , alternate_id
28899005	CV867601	single nucleotide variant	NM_000525.4(KCNJ11):c.*1415G>A	Diabetes mellitus, transient neonatal, 3 [RCV001103211]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV001103210]\|Maturity-onset diabetes of the young type 13 [RCV001103209]	uncertain significance	11	17385504	17385504	Human	3	name
28899012	CV867602	single nucleotide variant	NM_000525.4(KCNJ11):c.*1220G>A	Diabetes mellitus, transient neonatal, 3 [RCV001103212]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV001105126]\|Maturity onset diabetes mellitus in young [RCV002227242]\|Maturity-onset diabetes of the young type 13 [RCV001105127]	uncertain significance	11	17385699	17385699	Human	4	name
28905768	CV867603	single nucleotide variant	NM_000525.4(KCNJ11):c.*1037G>T	Diabetes mellitus, transient neonatal, 3 [RCV001106248]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV001106247]\|Maturity onset diabetes mellitus in young [RCV002226756]\|Maturity-onset diabetes of the young type 13 [RCV001106249]	uncertain significance	11	17385882	17385882	Human	4	name
28898171	CV884168	single nucleotide variant	NM_002242.4(KCNJ13):c.*2225G>A	Leber congenital amaurosis 16 [RCV001141866]\|not provided [RCV004711532]	likely benign	2	232765966	232765966	Human	1	name
28898175	CV884169	single nucleotide variant	NM_002242.4(KCNJ13):c.*2153G>A	Leber congenital amaurosis 16 [RCV001141867]	uncertain significance	2	232766038	232766038	Human	1	name
28902623	CV884170	single nucleotide variant	NM_002242.4(KCNJ13):c.*2007T>G	Leber congenital amaurosis 16 [RCV001143660]	uncertain significance	2	232766184	232766184	Human	1	name
28902626	CV884171	single nucleotide variant	NM_002242.4(KCNJ13):c.*1757A>T	Leber congenital amaurosis 16 [RCV001143661]	uncertain significance	2	232766434	232766434	Human	1	name
28902630	CV884172	single nucleotide variant	NM_002242.4(KCNJ13):c.*1718T>C	Leber congenital amaurosis 16 [RCV001143662]	uncertain significance	2	232766473	232766473	Human	1	name
28884037	CV884173	single nucleotide variant	NM_002242.4(KCNJ13):c.*1635T>C	Leber congenital amaurosis 16 [RCV001137098]	uncertain significance	2	232766556	232766556	Human	1	name
28884041	CV884174	single nucleotide variant	NM_002242.4(KCNJ13):c.*1553T>G	Leber congenital amaurosis 16 [RCV001137099]	uncertain significance	2	232766638	232766638	Human	1	name
28884045	CV884175	single nucleotide variant	NM_002242.4(KCNJ13):c.*1195G>T	Leber congenital amaurosis 16 [RCV001137100]	uncertain significance	2	232766996	232766996	Human	1	name
28884048	CV884176	single nucleotide variant	NM_002242.4(KCNJ13):c.*1159T>C	Leber congenital amaurosis 16 [RCV001137101]	uncertain significance	2	232767032	232767032	Human	1	name
126751967	CV988502	single nucleotide variant	NM_002242.4(KCNJ13):c.460+1G>C	not provided [RCV001307140]	uncertain significance	2	232770902	232770902	Human		name
127296537	CV1154068	duplication	NM_002242.4(KCNJ13):c.461-20dup	not provided [RCV001512554]	benign	2	232768832	232768833	Human		name
150336315	CV1165106	single nucleotide variant	NM_170741.4(KCNJ16):c.-94+77C>T	not provided [RCV001530790]	benign	17	70131052	70131052	Human		name
150431062	CV1243571	single nucleotide variant	NM_002241.5(KCNJ10):c.-1+153C>T	not provided [RCV001663191]	benign	1	160069869	160069869	Human		name
150471544	CV1281010	single nucleotide variant	NM_170741.4(KCNJ16):c.-94+74T>A	not provided [RCV001713208]	benign	17	70131049	70131049	Human		name
156380563	CV1899745	single nucleotide variant	NM_002242.4(KCNJ13):c.461-14A>G	not provided [RCV003093239]	likely benign	2	232768827	232768827	Human		name
155926595	CV1915988	deletion	NM_002242.4(KCNJ13):c.460+14del	not provided [RCV002614797]	likely benign	2	232770889	232770889	Human		name
11596035	CV286003	microsatellite	NM_002242.4(KCNJ13):c.*179CT[1]	Leber congenital amaurosis [RCV000377818]	uncertain significance	2	232768009	232768010	Human		name
404994221	CV3132557	single nucleotide variant	NM_002242.4(KCNJ13):c.461-13A>C	not provided [RCV003827496]	likely benign	2	232768826	232768826	Human		name
150422659	CV1180780	single nucleotide variant	NM_153766.3(KCNJ1):c.-21-2532T>C	not provided [RCV001552936]	likely benign	11	128842796	128842796	Human		name
150423989	CV1184487	single nucleotide variant	NM_153766.3(KCNJ1):c.-21-2316G>A	not provided [RCV001556058]	likely benign	11	128842580	128842580	Human		name
150418898	CV1198155	single nucleotide variant	NM_153766.3(KCNJ1):c.-21-1973A>G	not provided [RCV001576938]	likely benign	11	128842237	128842237	Human		name
150514844	CV1217293	deletion	NM_170741.4(KCNJ16):c.-94+234del	not provided [RCV001608197]	benign	17	70131195	70131195	Human		name
150478053	CV1250824	single nucleotide variant	NM_153766.3(KCNJ1):c.-21-2447T>C	not provided [RCV001672313]	benign	11	128842711	128842711	Human		name
150462127	CV1264692	duplication	NM_170741.4(KCNJ16):c.-94+234dup	not provided [RCV001682316]	benign	17	70131194	70131195	Human		name
150541423	CV1306341	single nucleotide variant	NM_170741.4(KCNJ16):c.-94+219C>A	not provided [RCV001767963]	likely benign	17	70131194	70131194	Human		name
151765584	CV1517245	single nucleotide variant	NM_153766.3(KCNJ1):c.-21-2122C>T	Bartter disease type 2 [RCV002479808]\|not provided [RCV002024854]	uncertain significance	11	128842386	128842386	Human	1	name
402482900	CV2937519	single nucleotide variant	NM_153766.3(KCNJ1):c.-21-2121G>T	not provided [RCV003659807]	likely benign	11	128842385	128842385	Human		name
402511785	CV2991195	single nucleotide variant	NM_153766.3(KCNJ1):c.-21-2136G>A	not provided [RCV003689617]	likely benign	11	128842400	128842400	Human		name
402479257	CV3036016	single nucleotide variant	NM_153766.3(KCNJ1):c.-21-2098A>G	not provided [RCV003712474]	likely benign	11	128842362	128842362	Human		name
402478741	CV3036017	single nucleotide variant	NM_153766.3(KCNJ1):c.-21-2099A>G	not provided [RCV003712475]	likely benign	11	128842363	128842363	Human		name
405209013	CV3037314	single nucleotide variant	NM_153766.3(KCNJ1):c.-21-2103G>A	not provided [RCV003708392]	likely benign	11	128842367	128842367	Human		name
405205750	CV3126669	single nucleotide variant	NM_153766.3(KCNJ1):c.-21-2101G>A	not provided [RCV003822603]	likely benign	11	128842365	128842365	Human		name
405022548	CV3139335	single nucleotide variant	NM_153766.3(KCNJ1):c.-21-2148T>C	not provided [RCV003829978]	likely benign	11	128842412	128842412	Human		name
405246669	CV3158553	single nucleotide variant	NM_153766.3(KCNJ1):c.-21-2106C>T	not provided [RCV003868895]	likely benign	11	128842370	128842370	Human		name
405154864	CV3159331	single nucleotide variant	NM_153766.3(KCNJ1):c.-21-2117G>A	not provided [RCV003856596]	pathogenic	11	128842381	128842381	Human		name
11606660	CV319382	single nucleotide variant	NM_153766.3(KCNJ1):c.-21-2167T>C	Bartter disease type 2 [RCV000334011]	uncertain significance	11	128842431	128842431	Human	1	name
11647294	CV319387	single nucleotide variant	NM_153766.3(KCNJ1):c.-21-2258G>A	Bartter disease type 2 [RCV000275543]	uncertain significance	11	128842522	128842522	Human	1	name
11623065	CV325506	single nucleotide variant	NM_153766.3(KCNJ1):c.-21-2197T>A	Bartter disease type 2 [RCV000367727]	uncertain significance	11	128842461	128842461	Human	1	name
407516315	CV3445058	single nucleotide variant	NM_153766.3(KCNJ1):c.-21-2137G>A	Inborn genetic diseases [RCV004628152]	likely benign	11	128842401	128842401	Human	1	name
13477875	CV441397	single nucleotide variant	NM_153766.3(KCNJ1):c.-21-2121G>A	Bartter disease type 2 [RCV001102693]\|not provided [RCV000923639]\|not specified [RCV000516495]	likely benign\|uncertain significance	11	128842385	128842385	Human	1	name
15124432	CV737862	single nucleotide variant	NM_153766.3(KCNJ1):c.-21-2142C>T	not provided [RCV000896588]	likely benign	11	128842406	128842406	Human		name
26912959	CV838116	single nucleotide variant	NM_153766.3(KCNJ1):c.-21-2138C>T	Bartter disease type 2 [RCV001102694]\|not provided [RCV001034980]	uncertain significance	11	128842402	128842402	Human	1	name
150474842	CV1252922	microsatellite	NM_002241.5(KCNJ10):c.*1970GT[18]	not provided [RCV001671830]	benign	1	160039374	160039387	Human		name
150506957	CV1258097	microsatellite	NM_002241.5(KCNJ10):c.*1970GT[26]	not provided [RCV001678314]	benign	1	160039373	160039374	Human		name
150470730	CV1258648	single nucleotide variant	NM_170741.4(KCNJ16):c.-299-141T>C	not provided [RCV001684193]	benign	17	70100517	70100517	Human		name
150495998	CV1283133	single nucleotide variant	NM_170741.4(KCNJ16):c.-190-229A>G	not provided [RCV001717517]	benign	17	70130650	70130650	Human		name
8652717	CV129292	single nucleotide variant	NM_153767.3(KCNJ1):c.-191-6974G>C	Lung cancer [RCV000109779]	uncertain significance	11	128857864	128857864	Human		name
155267591	CV1704991	single nucleotide variant	NM_170741.4(KCNJ16):c.-190-164A>G	not provided [RCV002285596]	likely benign	17	70130715	70130715	Human		name
11593676	CV276776	microsatellite	NM_002241.5(KCNJ10):c.*1970GT[24]	Nonsyndromic Hearing Loss, Mixed [RCV000350940]\|Pendred syndrome [RCV000298802]\|Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome [RCV000407689]\|not provided [RCV001651332]	benign\|uncertain significance	1	160039374	160039375	Human		name
11589543	CV277061	microsatellite	NM_002241.5(KCNJ10):c.*1970GT[23]	Nonsyndromic Hearing Loss, Mixed [RCV000311311]\|Pendred syndrome [RCV000368280]\|Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome [RCV000407692]\|not provided [RCV001689970]	benign\|likely benign	1	160039374	160039377	Human		name
11654930	CV277062	microsatellite	NM_002241.5(KCNJ10):c.*1970GT[27]	Nonsyndromic Hearing Loss, Mixed [RCV000339739]\|Pendred syndrome [RCV000264404]\|Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome [RCV000321910]	uncertain significance	1	160039373	160039374	Human		name
11657108	CV277644	microsatellite	NM_002241.5(KCNJ10):c.*1970GT[28]	Nonsyndromic Hearing Loss, Mixed [RCV000338565]\|Pendred syndrome [RCV000281216]\|Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome [RCV000399117]	uncertain significance	1	160039373	160039374	Human		name
11653342	CV277648	microsatellite	NM_002241.5(KCNJ10):c.*1970GT[21]	Nonsyndromic Hearing Loss, Mixed [RCV000362624]\|Pendred syndrome [RCV000271458]\|Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome [RCV000310224]\|not provided [RCV001618501]	benign\|uncertain significance	1	160039374	160039381	Human		name
11655108	CV277773	microsatellite	NM_002241.5(KCNJ10):c.*1970GT[22]	Nonsyndromic Hearing Loss, Mixed [RCV000380060]\|Pendred syndrome [RCV000269859]\|Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome [RCV000323131]\|not provided [RCV001536663]	benign\|uncertain significance	1	160039374	160039379	Human		name
11635611	CV313240	duplication	NM_153766.3(KCNJ1):c.499_501dup	Antenatal Bartter syndrome [RCV000374926]	benign	11	128838623	128838624	Human	1	name
150479084	CV1221446	single nucleotide variant	NM_170741.4(KCNJ16):c.-191+7733A>C	not provided [RCV001616525]	benign	17	70108499	70108499	Human		name
150486502	CV1262585	single nucleotide variant	NM_170741.4(KCNJ16):c.-191+7669G>A	not provided [RCV001686982]	benign	17	70108435	70108435	Human		name
11649122	CV325611	duplication	NM_000525.4(KCNJ11):c.826_827dup	Hyperinsulinism, Dominant/Recessive [RCV000285409]\|Maturity onset diabetes mellitus in young [RCV000394901]\|Transient Neonatal Diabetes, Dominant [RCV000335068]	uncertain significance	11	17386091	17386092	Human	3	name
150438663	CV1264856	single nucleotide variant	NM_001166290.2(KCNJ11):c.-17+438G>A	not provided [RCV001678849]	benign	11	17388736	17388736	Human		name
11658269	CV277042	deletion	NM_002241.5(KCNJ10):c.2675_2676del	Nonsyndromic Hearing Loss, Mixed [RCV000347520]\|Pendred syndrome [RCV000311392]\|Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome [RCV000391621]	uncertain significance	1	160038717	160038718	Human	3	name
11584679	CV285975	deletion	NM_002242.4(KCNJ13):c.1482_1484del	Leber congenital amaurosis [RCV000275732]	uncertain significance	2	232766707	232766709	Human	1	name
13788246	CV546134	insertion	NM_000525.4(KCNJ11):c.-135_-134insCT	Diabetes mellitus, transient neonatal, 3 [RCV005430404]\|Maturity onset diabetes mellitus in young [RCV002226723]	uncertain significance	11	17388225	17388226	Human	2	name
151355508	CV1328575	indel	NM_000525.3(KCNJ11):c.-606_-605delinsTT	not specified [RCV001820580]	uncertain significance	11	17388696	17388697	Human		name
151235110	CV1318370	insertion	NM_170741.4(KCNJ16):c.-94+218_-94+219insA	not provided [RCV001794693]	benign	17	70131193	70131194	Human		name
405236672	CV3036018	insertion	NM_153766.3(KCNJ1):c.-21-2101_-21-2100insGGT	not provided [RCV003712476]	likely benign	11	128842364	128842365	Human		name
11051538	CV226701	variation	KCNJ13, ILE120THR	Leber congenital amaurosis 16 [RCV000210435]	pathogenic				Human		name
127302890	CV1121162	single nucleotide variant	NM_000525.4(KCNJ11):c.918C>T (p.Ala306=)	Inborn genetic diseases [RCV002377780]\|KCNJ11-related disorder [RCV004533794]\|not provided [RCV001461801]	likely benign	11	17387174	17387174	Human	1	alternate_id
151354489	CV1329622	single nucleotide variant	NM_000525.4(KCNJ11):c.616C>T (p.Arg206Cys)	KCNJ11-related disorder [RCV003336445]\|not provided [RCV001817986]	pathogenic\|likely pathogenic	11	17387476	17387476	Human		alternate_id
8659796	CV134761	single nucleotide variant	NM_002241.5(KCNJ10):c.501G>A (p.Ala167=)	EAST syndrome [RCV003617797]\|KCNJ10-related disorder [RCV004542841]\|not provided [RCV004710506]\|not specified [RCV000117318]	benign\|likely benign	1	160042032	160042032	Human	2	alternate_id
8659797	CV134762	single nucleotide variant	NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln)	Autism [RCV001258301]\|EAST syndrome [RCV000234164]\|Inborn genetic diseases [RCV002312144]\|KCNJ10-related disorder [RCV004724811]\|not provided [RCV000710154]\|not specified [RCV000117319]	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters	1	160042480	160042480	Human	7	alternate_id
152124685	CV1630005	single nucleotide variant	NM_000525.4(KCNJ11):c.435C>T (p.Ala145=)	KCNJ11-related disorder [RCV004543701]\|not provided [RCV002154711]	likely benign	11	17387657	17387657	Human		alternate_id
9682588	CV168870	single nucleotide variant	NM_000525.4(KCNJ11):c.584G>A (p.Arg195His)	Diabetes mellitus, transient neonatal, 3 [RCV005430501]\|KCNJ11-related disorder [RCV004532652]\|Maturity onset diabetes mellitus in young [RCV002227075]\|Permanent neonatal diabetes mellitus [RCV001275135]\|not provided [RCV000883944]\|not specified [RCV000146112]	benign\|likely benign\|uncertain significance	11	17387508	17387508	Human	7	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
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
10396186	CV201053	single nucleotide variant	NM_002241.5(KCNJ10):c.688C>T (p.Arg230Trp)	EAST syndrome [RCV000704721]\|Inborn genetic diseases [RCV004020271]\|KCNJ10-related disorder [RCV004537578]\|not provided [RCV000726422]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	1	160041845	160041845	Human	3	alternate_id
156014114	CV2013347	inversion	NM_000525.4(KCNJ11):c.1088_1089inv (p.Ser363Leu)	KCNJ11-related disorder [RCV004545373]\|not provided [RCV002735050]\|not specified [RCV004587374]	uncertain significance	11	17387003	17387004	Human		alternate_id
10404483	CV207836	single nucleotide variant	NM_000525.4(KCNJ11):c.726C>T (p.Asn242=)	KCNJ11-related disorder [RCV004530124]\|Maturity onset diabetes mellitus in young [RCV002226697]\|not provided [RCV001412334]\|not specified [RCV000195184]	likely benign\|uncertain significance	11	17387366	17387366	Human	1	alternate_id
10403523	CV207838	single nucleotide variant	NM_000525.4(KCNJ11):c.526C>T (p.Arg176Cys)	KCNJ11-related disorder [RCV004530123]\|Maturity-onset diabetes of the young type 13 [RCV002294074]\|not provided [RCV002517087]\|not specified [RCV000192751]	uncertain significance	11	17387566	17387566	Human	1	alternate_id
156114659	CV2093117	single nucleotide variant	NM_000525.4(KCNJ11):c.408C>T (p.Arg136=)	KCNJ11-related disorder [RCV004536448]\|not provided [RCV002913920]	likely benign	11	17387684	17387684	Human		alternate_id
156047696	CV2154123	single nucleotide variant	NM_000525.4(KCNJ11):c.24C>T (p.Ile8=)	KCNJ11-related disorder [RCV004540504]\|not provided [RCV003019289]	likely benign	11	17388068	17388068	Human		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
8560630	CV23709	single nucleotide variant	NM_000525.4(KCNJ11):c.149G>C (p.Arg50Pro)	Diabetes mellitus, permanent neonatal 2 [RCV001089464]\|KCNJ11-related disorder [RCV003335022]\|Permanent neonatal diabetes mellitus [RCV000009205]	pathogenic\|not provided	11	17387943	17387943	Human	2	alternate_id
8560637	CV23716	single nucleotide variant	NM_000525.4(KCNJ11):c.776A>G (p.His259Arg)	Diabetes mellitus, transient neonatal, 3 [RCV005049325]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV000009213]\|KCNJ11-related disorder [RCV004734505]\|Maturity onset diabetes mellitus in young [RCV002226642]\|Type 2 diabetes mellitus [RCV002247279]\|not provided ... (more) [RCV000992253]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	11	17387316	17387316	Human	10	alternate_id
8560638	CV23717	single nucleotide variant	NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu)	Diabetes mellitus type 2, susceptibility to [RCV000009214]\|Diabetes mellitus, transient neonatal, 3 [RCV001093985]\|Hyperinsulinemic hypoglycemia, familial, 2 [RCV000576501]\|Hyperinsulinism, Dominant/Recessive [RCV000294608]\|KCNJ11-related disorder [RCV004734506] ... (more) \|Maturity onset diabetes mellitus in young [RCV000385348]\|Maturity-onset diabetes of the young type 13 [RCV001105584]\|Permanent neonatal diabetes mellitus [RCV000020356]\|Transient Neonatal Diabetes, Dominant [RCV000281825]\|Type 2 diabetes mellitus [RCV002226643]\|not provided [RCV001512207]\|not specified [RCV000146116]	risk factor\|benign\|likely benign\|conflicting interpretations of pathogenicity\|drug response	11	17388025	17388025	Human	12	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
11643222	CV269280	single nucleotide variant	NM_000525.4(KCNJ11):c.80G>A (p.Arg27His)	Diabetes mellitus, transient neonatal, 3 [RCV005365225]\|Diabetes mellitus, transient neonatal, 3 [RCV005430521]\|KCNJ11-related disorder [RCV004529469]\|Maturity onset diabetes mellitus in young [RCV002227117]\|Permanent neonatal diabetes mellitus [RCV001833339]\|no ... (more) t provided [RCV000389894]	benign\|uncertain significance	11	17388012	17388012	Human	9	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
401922952	CV2796576	single nucleotide variant	NM_000525.4(KCNJ11):c.329G>T (p.Cys110Phe)	KCNJ11-related disorder [RCV004527933]	uncertain significance	11	17387763	17387763	Human		alternate_id
401907165	CV2797888	single nucleotide variant	NM_170741.4(KCNJ16):c.467T>G (p.Leu156Ter)	KCNJ16-related disorder [RCV003422437]	likely pathogenic	17	70132554	70132554	Human		alternate_id
401935060	CV2798345	single nucleotide variant	NM_000525.4(KCNJ11):c.637G>A (p.Ala213Thr)	KCNJ11-related disorder [RCV004539024]\|Type 2 diabetes mellitus [RCV003459856]	likely pathogenic\|uncertain significance	11	17387455	17387455	Human	3	alternate_id
401913567	CV2801830	duplication	NM_170741.4(KCNJ16):c.397_399dup (p.Gly133_Tyr134insGly)	KCNJ16-related disorder [RCV003400166]	likely pathogenic\|uncertain significance	17	70132482	70132483	Human		alternate_id
405286594	CV3192193	single nucleotide variant	NM_021012.5(KCNJ12):c.714C>T (p.Thr238=)	KCNJ12-related disorder [RCV003924103]	likely benign	17	21416056	21416056	Human		alternate_id
405276162	CV3193258	single nucleotide variant	NM_021012.5(KCNJ12):c.243G>C (p.Arg81=)	KCNJ12-related disorder [RCV003974424]	benign	17	21415585	21415585	Human		alternate_id
405276186	CV3193266	single nucleotide variant	NM_021012.5(KCNJ12):c.116G>A (p.Arg39Gln)	KCNJ12-related disorder [RCV003974432]	benign	17	21415458	21415458	Human		alternate_id
405276119	CV3193286	single nucleotide variant	NM_021012.5(KCNJ12):c.745A>G (p.Ile249Val)	KCNJ12-related disorder [RCV003974453]	benign	17	21416087	21416087	Human		alternate_id
405276367	CV3193344	single nucleotide variant	NM_021012.5(KCNJ12):c.657C>T (p.Arg219=)	KCNJ12-related disorder [RCV003974511]	benign	17	21415999	21415999	Human		alternate_id
405276750	CV3193486	single nucleotide variant	NM_021012.5(KCNJ12):c.648T>C (p.Gly216=)	KCNJ12-related disorder [RCV003974654]	benign	17	21415990	21415990	Human		alternate_id
405276767	CV3193491	single nucleotide variant	NM_021012.5(KCNJ12):c.213G>A (p.Met71Ile)	KCNJ12-related disorder [RCV003974659]	benign	17	21415555	21415555	Human		alternate_id
405284186	CV3196627	single nucleotide variant	NM_021012.5(KCNJ12):c.44C>T (p.Ser15Leu)	KCNJ12-related disorder [RCV003979539]	benign	17	21415386	21415386	Human		alternate_id
405284307	CV3196706	single nucleotide variant	NM_021012.5(KCNJ12):c.297C>T (p.Gly99=)	KCNJ12-related disorder [RCV003979605]	benign	17	21415639	21415639	Human		alternate_id
405284314	CV3196715	single nucleotide variant	NM_021012.5(KCNJ12):c.258C>A (p.Ile86=)	KCNJ12-related disorder [RCV003979611]	benign	17	21415600	21415600	Human		alternate_id
405284341	CV3196728	single nucleotide variant	NM_021012.5(KCNJ12):c.167A>C (p.Glu56Ala)	KCNJ12-related disorder [RCV003979623]	benign	17	21415509	21415509	Human		alternate_id
405263237	CV3196874	single nucleotide variant	NM_021012.5(KCNJ12):c.715G>A (p.Glu239Lys)	KCNJ12-related disorder [RCV003967395]	benign	17	21416057	21416057	Human		alternate_id
405284649	CV3196976	single nucleotide variant	NM_021012.5(KCNJ12):c.415G>A (p.Glu139Lys)	KCNJ12-related disorder [RCV003979817]	benign	17	21415757	21415757	Human		alternate_id
405284684	CV3196986	single nucleotide variant	NM_021012.5(KCNJ12):c.467C>T (p.Pro156Leu)	KCNJ12-related disorder [RCV003979827]	benign	17	21415809	21415809	Human		alternate_id
405290832	CV3197070	single nucleotide variant	NM_021012.5(KCNJ12):c.353G>A (p.Arg118Gln)	KCNJ12-related disorder [RCV003984632]	benign	17	21415695	21415695	Human		alternate_id
405290928	CV3197230	single nucleotide variant	NM_021012.5(KCNJ12):c.9G>A (p.Ala3=)	KCNJ12-related disorder [RCV003984793]	benign	17	21415351	21415351	Human		alternate_id
405288260	CV3197234	single nucleotide variant	NM_021012.5(KCNJ12):c.618C>T (p.Asp206=)	KCNJ12-related disorder [RCV003982330]	benign	17	21415960	21415960	Human		alternate_id
405288362	CV3197334	single nucleotide variant	NM_021012.5(KCNJ12):c.753C>T (p.Ile251=)	KCNJ12-related disorder [RCV003982430]	benign	17	21416095	21416095	Human		alternate_id
405288436	CV3197447	single nucleotide variant	NM_001194958.2(KCNJ18):c.119G>A (p.Arg40His)	KCNJ18-related disorder [RCV003982543]	benign	17	21702905	21702905	Human		alternate_id
405277064	CV3198764	single nucleotide variant	NM_000525.4(KCNJ11):c.66C>T (p.Ala22=)	KCNJ11-related disorder [RCV004536968]	likely benign	11	17388026	17388026	Human		alternate_id
405268723	CV3199023	single nucleotide variant	NM_021012.5(KCNJ12):c.705G>A (p.Pro235=)	KCNJ12-related disorder [RCV003912130]	likely benign	17	21416047	21416047	Human		alternate_id
405292157	CV3199765	single nucleotide variant	NM_021012.5(KCNJ12):c.384C>T (p.His128=)	KCNJ12-related disorder [RCV003964408]	likely benign	17	21415726	21415726	Human		alternate_id
405284158	CV3200496	single nucleotide variant	NM_021012.5(KCNJ12):c.456G>A (p.Thr152=)	KCNJ12-related disorder [RCV003979516]	benign	17	21415798	21415798	Human		alternate_id
405288117	CV3200548	single nucleotide variant	NM_021012.5(KCNJ12):c.554C>T (p.Ala185Val)	KCNJ12-related disorder [RCV003982261]	benign	17	21415896	21415896	Human		alternate_id
405288223	CV3200595	single nucleotide variant	NM_021012.5(KCNJ12):c.517G>A (p.Asp173Asn)	KCNJ12-related disorder [RCV003982308]	benign	17	21415859	21415859	Human		alternate_id
405280381	CV3200709	single nucleotide variant	NM_021012.5(KCNJ12):c.354G>C (p.Arg118=)	KCNJ12-related disorder [RCV003977334]	benign	17	21415696	21415696	Human		alternate_id
405290590	CV3200905	single nucleotide variant	NM_021012.5(KCNJ12):c.298A>G (p.Ile100Val)	KCNJ12-related disorder [RCV003984569]	benign	17	21415640	21415640	Human		alternate_id
405290607	CV3200915	single nucleotide variant	NM_021012.5(KCNJ12):c.597C>T (p.Asn199=)	KCNJ12-related disorder [RCV003984579]	benign	17	21415939	21415939	Human		alternate_id
405290651	CV3200930	single nucleotide variant	NM_021012.5(KCNJ12):c.433G>A (p.Gly145Ser)	KCNJ12-related disorder [RCV003984594]	benign	17	21415775	21415775	Human		alternate_id
405268732	CV3201071	single nucleotide variant	NM_021012.5(KCNJ12):c.231C>T (p.Asp77=)	KCNJ12-related disorder [RCV003899181]	likely benign	17	21415573	21415573	Human		alternate_id
405288019	CV3203524	single nucleotide variant	NM_021012.5(KCNJ12):c.459G>A (p.Glu153=)	KCNJ12-related disorder [RCV003924655]	likely benign	17	21415801	21415801	Human		alternate_id
405260394	CV3203987	single nucleotide variant	NM_021012.5(KCNJ12):c.561C>A (p.Pro187=)	KCNJ12-related disorder [RCV003943880]	likely benign	17	21415903	21415903	Human		alternate_id
405274737	CV3204424	single nucleotide variant	NM_001194958.2(KCNJ18):c.171C>T (p.Phe57=)	KCNJ18-related disorder [RCV003951869]	likely benign	17	21702957	21702957	Human		alternate_id
405275114	CV3204593	single nucleotide variant	NM_021012.5(KCNJ12):c.568C>A (p.Arg190=)	KCNJ12-related disorder [RCV003952007]	likely benign	17	21415910	21415910	Human		alternate_id
405285654	CV3206573	single nucleotide variant	NM_000525.4(KCNJ11):c.1091C>T (p.Ala364Val)	KCNJ11-related disorder [RCV004540860]	uncertain significance	11	17387001	17387001	Human		alternate_id
405293080	CV3207231	single nucleotide variant	NM_001194958.2(KCNJ18):c.42A>G (p.Ser14=)	KCNJ18-related disorder [RCV003931629]	likely benign	17	21702828	21702828	Human		alternate_id
405271767	CV3209530	single nucleotide variant	NM_021012.5(KCNJ12):c.579G>A (p.Thr193=)	KCNJ12-related disorder [RCV003949835]	likely benign	17	21415921	21415921	Human		alternate_id
405265819	CV3215672	single nucleotide variant	NM_021012.5(KCNJ12):c.99C>T (p.Asn33=)	KCNJ12-related disorder [RCV003946847]	likely benign	17	21415441	21415441	Human		alternate_id
405266232	CV3215897	single nucleotide variant	NM_021012.5(KCNJ12):c.366C>T (p.Pro122=)	KCNJ12-related disorder [RCV003947032]	likely benign	17	21415708	21415708	Human		alternate_id
405287508	CV3217779	single nucleotide variant	NM_021012.5(KCNJ12):c.425C>A (p.Thr142Asn)	KCNJ12-related disorder [RCV003981902]	benign	17	21415767	21415767	Human		alternate_id
405287652	CV3217844	single nucleotide variant	NM_021012.5(KCNJ12):c.631C>T (p.Leu211Phe)	KCNJ12-related disorder [RCV003981967]	benign	17	21415973	21415973	Human		alternate_id
405287659	CV3217852	single nucleotide variant	NM_021012.5(KCNJ12):c.264G>A (p.Ser88=)	KCNJ12-related disorder [RCV003981975]	benign	17	21415606	21415606	Human		alternate_id
405287682	CV3217864	single nucleotide variant	NM_021012.5(KCNJ12):c.738G>A (p.Leu246=)	KCNJ12-related disorder [RCV003981987]	benign	17	21416080	21416080	Human		alternate_id
405287734	CV3217895	single nucleotide variant	NM_021012.5(KCNJ12):c.106G>T (p.Val36Leu)	KCNJ12-related disorder [RCV003982018]	benign	17	21415448	21415448	Human		alternate_id
405287754	CV3217900	single nucleotide variant	NM_021012.5(KCNJ12):c.327C>T (p.His109=)	KCNJ12-related disorder [RCV003982023]	benign	17	21415669	21415669	Human		alternate_id
405287825	CV3217934	single nucleotide variant	NM_021012.5(KCNJ12):c.294C>T (p.Phe98=)	KCNJ12-related disorder [RCV003982057]	benign	17	21415636	21415636	Human		alternate_id
405287863	CV3217958	single nucleotide variant	NM_021012.5(KCNJ12):c.576G>C (p.Gln192His)	KCNJ12-related disorder [RCV003982081]	benign	17	21415918	21415918	Human		alternate_id
405287965	CV3218013	single nucleotide variant	NM_021012.5(KCNJ12):c.128G>A (p.Arg43His)	KCNJ12-related disorder [RCV003982137]	benign	17	21415470	21415470	Human		alternate_id
405288108	CV3218095	single nucleotide variant	NM_021012.5(KCNJ12):c.87C>T (p.Asn29=)	KCNJ12-related disorder [RCV003982220]	benign	17	21415429	21415429	Human		alternate_id
405288121	CV3218100	single nucleotide variant	NM_021012.5(KCNJ12):c.315C>T (p.Ile105=)	KCNJ12-related disorder [RCV003982225]	benign	17	21415657	21415657	Human		alternate_id
408370826	CV3505769	single nucleotide variant	NM_000525.4(KCNJ11):c.133G>A (p.Ala45Thr)	KCNJ11-related disorder [RCV004724244]	uncertain significance	11	17387959	17387959	Human		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
598199641	CV4007340	single nucleotide variant	NM_021012.5(KCNJ12):c.685C>T (p.Arg229Cys)	KCNJ12-related disorder [RCV005398168]	uncertain significance	17	21416027	21416027	Human		alternate_id
598199647	CV4007341	single nucleotide variant	NM_021012.5(KCNJ12):c.976C>T (p.Arg326Cys)	KCNJ12-related disorder [RCV005398169]	uncertain significance	17	21416318	21416318	Human		alternate_id
13213671	CV429190	single nucleotide variant	NM_000525.4(KCNJ11):c.185C>T (p.Thr62Met)	KCNJ11-related disorder [RCV004735574]\|Maturity onset diabetes mellitus in young [RCV002227172]\|not provided [RCV002461253]\|not specified [RCV000500297]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	11	17387907	17387907	Human	1	alternate_id
13214610	CV429193	single nucleotide variant	NC_000011.10:g.17388660G>A	KCNJ11-related disorder [RCV004535598]\|Maturity onset diabetes mellitus in young [RCV002227170]\|not specified [RCV000501375]	likely benign\|uncertain significance	11	17388660	17388660	Human	1	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
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
13619484	CV515172	single nucleotide variant	NM_002241.5(KCNJ10):c.240C>T (p.Phe80=)	EAST syndrome [RCV000646758]\|Inborn genetic diseases [RCV002458100]\|KCNJ10-related disorder [RCV004544875]\|not provided [RCV001644730]	likely benign	1	160042293	160042293	Human	3	alternate_id
13704021	CV540021	single nucleotide variant	NM_000525.4(KCNJ11):c.794G>T (p.Ser265Ile)	Hyperinsulinemia [RCV002226721]\|KCNJ11-related disorder [RCV004533459]\|Monogenic diabetes [RCV000664133]	uncertain significance	11	17387298	17387298	Human	3	alternate_id
13790206	CV545832	single nucleotide variant	NM_000525.4(KCNJ11):c.119G>A (p.Gly40Asp)	Diabetes mellitus, transient neonatal, 3 [RCV005046860]\|Diabetes mellitus, transient neonatal, 3 [RCV005430435]\|Familial hyperinsulinism [RCV004586857]\|KCNJ11-related disorder [RCV004527725]\|Maturity onset diabetes mellitus in young [RCV002227198]\|not provided [ ... (more) RCV003558487]	likely pathogenic\|uncertain significance	11	17387973	17387973	Human	11	alternate_id
13787439	CV546120	single nucleotide variant	NM_000525.4(KCNJ11):c.1016T>G (p.Val339Gly)	Diabetes mellitus, transient neonatal, 3 [RCV005430395]\|KCNJ11-related disorder [RCV004527723]\|Maturity onset diabetes mellitus in young [RCV002226722]\|Permanent neonatal diabetes mellitus [RCV000763717]	uncertain significance	11	17387076	17387076	Human	11	alternate_id
13791779	CV546452	single nucleotide variant	NM_000525.4(KCNJ11):c.853G>A (p.Val285Ile)	Diabetes mellitus, transient neonatal, 3 [RCV002493096]\|Diabetes mellitus, transient neonatal, 3 [RCV005430578]\|KCNJ11-related disorder [RCV004735734]\|Maturity onset diabetes mellitus in young [RCV002226726]\|not provided [RCV002530727]	uncertain significance	11	17387239	17387239	Human	11	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
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		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
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
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	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
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
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
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
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	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
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	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
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	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	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
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
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	alternate_id
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	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
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
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	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
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
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	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	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
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	alternate_id
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	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
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
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	alternate_id
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	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
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	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	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
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	alternate_id
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	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
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	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
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
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	alternate_id
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	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	alternate_id
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	alternate_id
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	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	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	alternate_id
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	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	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	alternate_id
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	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	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
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	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	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	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	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	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	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	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	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	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	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
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	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	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
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	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
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	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
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
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
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
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
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
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	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	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	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	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	alternate_id
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	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	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	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	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	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	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	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	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	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	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	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	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	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	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	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	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	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	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	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	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	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	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	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	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	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	alternate_id
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	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	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	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
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
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
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
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
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
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
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
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
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	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	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	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
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	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
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
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
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
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	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
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	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
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
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	alternate_id
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	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	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	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	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	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	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	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	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	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	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	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	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	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	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	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	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	alternate_id
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	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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