Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_002241.5(KCNJ10):c.194G>C (p.Arg65Pro)	SNV Germline	Chr1:160042339	Pathogenic	EAST syndrome Cerebellar ataxia Bilateral sensorineural hearing impairment Spastic diplegia Renal tubular dysfunction Microcephaly	No Assertion Criteria Provided	CA118807	rs_137853066	2 SubmittersRCV000007888 RCV001003572
NM_002241.5(KCNJ10):c.595C>T (p.Arg199Ter)	SNV Germline	Chr1:160041938	Pathogenic/Likely pathogenic	EAST syndrome Autosomal recessive nonsyndromic hearing loss 4 Pendred syndrome EAST syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA118808	rs_137853067	5 SubmittersRCV000007889 RCV002496303 RCV003128569
NM_002241.5(KCNJ10):c.418T>C (p.Cys140Arg)	SNV Germline	Chr1:160042115	Pathogenic	EAST syndrome	No Assertion Criteria Provided	CA118810	rs_137853068	1 SubmittersRCV000007890
NM_002241.5(KCNJ10):c.491C>T (p.Thr164Ile)	SNV Germline	Chr1:160042042	Pathogenic	EAST syndrome	No Assertion Criteria Provided	CA118811	rs_137853069	1 SubmittersRCV000007891
NM_002241.5(KCNJ10):c.500C>T (p.Ala167Val)	SNV Germline	Chr1:160042033	Pathogenic	EAST syndrome Autosomal recessive nonsyndromic hearing loss 4 Pendred syndrome EAST syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA118812	rs_137853070	5 SubmittersRCV000007892 RCV001536078 RCV002221471
NM_002241.5(KCNJ10):c.889C>T (p.Arg297Cys)	SNV Germline	Chr1:160041644	Pathogenic/Likely pathogenic	EAST syndrome Condition: not provided EAST syndrome Pendred syndrome Autosomal recessive nonsyndromic hearing loss 4	Criteria Provided Multiple Submitters No Conflicts	CA118813	rs_137853071	6 SubmittersRCV000007893 RCV000413534 RCV002490337
NM_002241.5(KCNJ10):c.229G>C (p.Gly77Arg)	SNV Germline	Chr1:160042304	Pathogenic	EAST syndrome	Criteria Provided Single Submitter	CA118814	rs_137853072	2 SubmittersRCV000007894
NM_002241.5(KCNJ10):c.581C>A (p.Pro194His)	SNV Germline	Chr1:160041952	Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 4 Autosomal recessive nonsyndromic hearing loss 4 EAST syndrome	Criteria Provided Single Submitter	CA254186	rs_137853073	2 SubmittersRCV000007895 RCV005042011
NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys)	SNV Germline	Chr1:160041491	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 4 EAST syndrome Condition: not provided not specified KCNJ10-related disorder	Criteria Provided Conflicting Classifications	CA254188	rs_137853074	9 SubmittersRCV000007896 RCV000687427 RCV000725885 RCV000358648 RCV000784954
NM_002241.5(KCNJ10):c.193C>T (p.Arg65Cys)	SNV Germline	Chr1:160042340	Likely pathogenic	EAST syndrome	Criteria Provided Single Submitter	CA129068	rs_387906834	2 SubmittersRCV000023175
NM_002241.5(KCNJ10):c.225T>G (p.Phe75Leu)	SNV Germline	Chr1:160042308	Pathogenic	EAST syndrome	No Assertion Criteria Provided	CA31471247	rs_757159382	1 SubmittersRCV000023176
NM_002241.5(KCNJ10):c.524G>A (p.Arg175Gln)	SNV Germline	Chr1:160042009	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases EAST syndrome	Criteria Provided Conflicting Classifications	CA130855	rs_397514673	4 SubmittersRCV001818209 RCV002336110 RCV000034356
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln)	SNV Germline	Chr1:160042480	Conflicting classifications of pathogenicity	not specified EAST syndrome Condition: not provided Intellectual disability Autism Seizure Inborn genetic diseases KCNJ10-related disorder	Criteria Provided Conflicting Classifications	CA288914	rs_115466046	11 SubmittersRCV000117319 RCV000234164 RCV000710154 RCV001258301 RCV002312144 RCV004724811
NM_002241.5(KCNJ10):c.812G>A (p.Arg271His)	SNV Germline	Chr1:160041721	Conflicting classifications of pathogenicity	not specified EAST syndrome Autosomal recessive nonsyndromic hearing loss 4 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA288918	rs_3795339	6 SubmittersRCV000117321 RCV000548825 RCV001099392 RCV002313893 RCV001704023
NM_002241.5(KCNJ10):c.1092A>G (p.Gln364=)	SNV Germline	Chr1:160041441	Conflicting classifications of pathogenicity	not specified EAST syndrome Autosomal recessive nonsyndromic hearing loss 4 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA291727	rs_145588542	7 SubmittersRCV000126412 RCV000228457 RCV001097624 RCV001311654 RCV002312893
NM_002241.5(KCNJ10):c.530A>G (p.Glu177Gly)	SNV Germline	Chr1:160042003	Conflicting classifications of pathogenicity	Condition: not provided EAST syndrome Autosomal recessive nonsyndromic hearing loss 4 Autosomal recessive nonsyndromic hearing loss 4 EAST syndrome KCNJ10-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA241460	rs_145947380	8 SubmittersRCV000724333 RCV000768246 RCV000348162 RCV001084650 RCV004537388 RCV002345601
NM_002241.5(KCNJ10):c.1061A>G (p.Lys354Arg)	SNV Germline	Chr1:160041472	Conflicting classifications of pathogenicity	EAST syndrome Autosomal recessive nonsyndromic hearing loss 4 Condition: not provided Inborn genetic diseases Autosomal recessive nonsyndromic hearing loss 4 EAST syndrome Hearing loss, autosomal recessive	Criteria Provided Conflicting Classifications	CA315275	rs_142596580	9 SubmittersRCV000463470 RCV001334026 RCV000656852 RCV002408834 RCV005003542 RCV004577730
NM_002241.5(KCNJ10):c.1043G>A (p.Arg348His)	SNV Germline	Chr1:160041490	Conflicting classifications of pathogenicity	EAST syndrome Autosomal recessive nonsyndromic hearing loss 4 EAST syndrome Condition: not provided Pendred syndrome EAST syndrome Autosomal recessive nonsyndromic hearing loss 4 Autosomal recessive nonsyndromic hearing loss 4 Intellectual disability not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA315273	rs_146396982	14 SubmittersRCV003224208 RCV000461889 RCV000726871 RCV000764989 RCV001099391 RCV001252025 RCV001818453 RCV002314724
NM_002241.5(KCNJ10):c.735C>G (p.Asp245Glu)	SNV Germline	Chr1:160041798	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 4 Condition: not provided EAST syndrome KCNJ10-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA315257	rs_146426296	8 SubmittersRCV000187803 RCV000281707 RCV000727390 RCV001085271 RCV004539742 RCV002381629
NM_002241.5(KCNJ10):c.688C>T (p.Arg230Trp)	SNV Germline	Chr1:160041845	Conflicting classifications of pathogenicity	EAST syndrome Condition: not provided Inborn genetic diseases KCNJ10-related disorder	Criteria Provided Conflicting Classifications	CA315269	rs_149615470	5 SubmittersRCV000704721 RCV000726422 RCV004020271 RCV004537578
NM_002241.5(KCNJ10):c.221C>T (p.Thr74Ile)	SNV Germline	Chr1:160042312	Conflicting classifications of pathogenicity	Condition: not provided EAST syndrome	Criteria Provided Conflicting Classifications	CA315263	rs_796052604	2 SubmittersRCV000187806 RCV000646754
NM_002241.5(KCNJ10):c.179T>C (p.Ile60Thr)	SNV Germline	Chr1:160042354	Conflicting classifications of pathogenicity	Condition: not provided EAST syndrome Inborn genetic diseases EAST syndrome Autosomal recessive nonsyndromic hearing loss 4	Criteria Provided Conflicting Classifications	CA315278	rs_759993423	5 SubmittersRCV000187814 RCV000646755 RCV002311273 RCV005042401
NM_002241.5(KCNJ10):c.52C>T (p.Arg18Trp)	SNV Germline	Chr1:160042481	Conflicting classifications of pathogenicity	EAST syndrome Autosomal recessive nonsyndromic hearing loss 4 Condition: not provided Inborn genetic diseases EAST syndrome Autosomal recessive nonsyndromic hearing loss 4	Criteria Provided Conflicting Classifications	CA315261	rs_138457635	7 SubmittersRCV000464419 RCV001099502 RCV001288236 RCV002314723 RCV005042400
NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter)	SNV Germline	Chr1:160042457	Conflicting classifications of pathogenicity	Condition: not provided EAST syndrome Autosomal recessive nonsyndromic hearing loss 4 Pendred syndrome EAST syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA207249	rs_138943405	6 SubmittersRCV000578956 RCV000193637 RCV001535830 RCV002399714
NM_002241.5(KCNJ10):c.136G>A (p.Asp46Asn)	SNV Germline	Chr1:160042397	Conflicting classifications of pathogenicity	not specified Condition: not provided Autosomal recessive nonsyndromic hearing loss 4 EAST syndrome Inborn genetic diseases KCNJ10-related disorder	Criteria Provided Conflicting Classifications	CA1193291	rs_141553756	8 SubmittersRCV000374787 RCV000712154 RCV001097719 RCV001085543 RCV002317765 RCV004541386
NM_002241.5(KCNJ10):c.21G>T (p.Val7=)	SNV Germline	Chr1:160042512	Conflicting classifications of pathogenicity	Condition: not provided EAST syndrome	Criteria Provided Conflicting Classifications	CA10604518	rs_750227861	2 SubmittersRCV000334234 RCV003507272
NM_002241.5(KCNJ10):c.435G>T (p.Val145=)	SNV Germline	Chr1:160042098	Conflicting classifications of pathogenicity	Condition: not provided EAST syndrome	Criteria Provided Conflicting Classifications	CA10604978	rs_886043002	2 SubmittersRCV000286909 RCV005090355
NM_002241.5(KCNJ10):c.615A>G (p.Lys205=)	SNV Germline	Chr1:160041918	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 4 not specified Condition: not provided EAST syndrome KCNJ10-related disorder	Criteria Provided Conflicting Classifications	CA1193227	rs_142228240	6 SubmittersRCV000292182 RCV000392700 RCV000726028 RCV001083357 RCV004732827
NM_002241.5(KCNJ10):c.*1839C>T	SNV Germline	Chr1:160039554	Conflicting classifications of pathogenicity	EAST syndrome Autosomal recessive nonsyndromic hearing loss 4	Criteria Provided Conflicting Classifications	CA10607908	rs_138511291	1 SubmittersRCV000296382 RCV000392736
NM_002241.5(KCNJ10):c.*1161T>C	SNV Germline	Chr1:160040232	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 4 EAST syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10607911	rs_149832483	2 SubmittersRCV000286109 RCV000344467 RCV003311740
NM_002241.5(KCNJ10):c.*2490G>A	SNV Germline	Chr1:160038903	Conflicting classifications of pathogenicity	EAST syndrome Autosomal recessive nonsyndromic hearing loss 4	Criteria Provided Conflicting Classifications	CA10608060	rs_190897143	1 SubmittersRCV000331615 RCV000385878
NM_002241.5(KCNJ10):c.*2394T>C	SNV Germline	Chr1:160038999	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 4 EAST syndrome	Criteria Provided Conflicting Classifications	CA10608069	rs_116235450	1 SubmittersRCV000358581 RCV000405763
NM_002241.5(KCNJ10):c.*3506C>T	SNV Germline	Chr1:160037887	Conflicting classifications of pathogenicity	EAST syndrome Autosomal recessive nonsyndromic hearing loss 4	Criteria Provided Conflicting Classifications	CA10608373	rs_79012831	1 SubmittersRCV000283745 RCV000378319
NM_002241.5(KCNJ10):c.405C>T (p.Tyr135=)	SNV Germline	Chr1:160042128	Conflicting classifications of pathogenicity	EAST syndrome Autosomal recessive nonsyndromic hearing loss 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA1193248	rs_765590257	3 SubmittersRCV000268522 RCV000358462 RCV003409436
NM_002241.5(KCNJ10):c.296T>C (p.Leu99Pro)	SNV Germline	Chr1:160042237	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 4 EAST syndrome Condition: not provided EAST syndrome Autosomal recessive nonsyndromic hearing loss 4	Criteria Provided Conflicting Classifications	CA1193261	rs_540341763	4 SubmittersRCV000259824 RCV000354704 RCV000520568 RCV005003617
NM_002241.5(KCNJ10):c.*2596A>G	SNV Germline	Chr1:160038797	Conflicting classifications of pathogenicity	EAST syndrome Autosomal recessive nonsyndromic hearing loss 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA10608463	rs_116418256	2 SubmittersRCV000304369 RCV000359101 RCV002510836
NM_002241.5(KCNJ10):c.219G>A (p.Ala73=)	SNV Germline	Chr1:160042314	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 4 not specified EAST syndrome KCNJ10-related disorder Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1193277	rs_144495959	8 SubmittersRCV001097717 RCV000426056 RCV001087546 RCV004544736 RCV000727079 RCV002314145
NM_002241.5(KCNJ10):c.147C>T (p.Phe49=)	SNV Germline	Chr1:160042386	Conflicting classifications of pathogenicity	not specified EAST syndrome Autosomal recessive nonsyndromic hearing loss 4	Criteria Provided Conflicting Classifications	CA16603479	rs_1057523361	2 SubmittersRCV000431607 RCV005044643
NM_002241.5(KCNJ10):c.21G>A (p.Val7=)	SNV Germline	Chr1:160042512	Conflicting classifications of pathogenicity	Condition: not provided EAST syndrome Autosomal recessive nonsyndromic hearing loss 4	Criteria Provided Conflicting Classifications	CA1193307	rs_750227861	3 SubmittersRCV001698281 RCV001099503 RCV001099504
NM_002241.5(KCNJ10):c.305C>T (p.Pro102Leu)	SNV Germline	Chr1:160042228	Conflicting classifications of pathogenicity	EAST syndrome Condition: not provided EAST syndrome Autosomal recessive nonsyndromic hearing loss 4	Criteria Provided Conflicting Classifications	CA1193258	rs_372156619	3 SubmittersRCV000469596 RCV000520403 RCV005044694
NM_002241.5(KCNJ10):c.300C>A (p.Asp100Glu)	SNV Germline	Chr1:160042233	Conflicting classifications of pathogenicity	not specified EAST syndrome Inborn genetic diseases Condition: not provided Autosomal recessive nonsyndromic hearing loss 4 EAST syndrome	Criteria Provided Conflicting Classifications	CA1193259	rs_139069413	7 SubmittersRCV000503569 RCV000558913 RCV002438220 RCV001550181 RCV005044754
NM_002241.5(KCNJ10):c.1051G>A (p.Asp351Asn)	SNV Germline	Chr1:160041482	Conflicting classifications of pathogenicity	Condition: not provided EAST syndrome Autosomal recessive nonsyndromic hearing loss 4 Pendred syndrome Intellectual disability EAST syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1193166	rs_373899425	5 SubmittersRCV000522945 RCV000764988 RCV001252024 RCV001489554 RCV004629231
NM_002241.5(KCNJ10):c.336G>A (p.Val112=)	SNV Germline	Chr1:160042197	Conflicting classifications of pathogenicity	Condition: not provided EAST syndrome	Criteria Provided Conflicting Classifications	CA1193254	rs_781357184	2 SubmittersRCV000594999 RCV002062050
NM_002241.5(KCNJ10):c.511C>T (p.Arg171Trp)	SNV Germline	Chr1:160042022	Conflicting classifications of pathogenicity	EAST syndrome Autosomal recessive nonsyndromic hearing loss 4 EAST syndrome Pendred syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA1193240	rs_769666695	3 SubmittersRCV000646757 RCV000764991 RCV004808823
NM_002241.5(KCNJ10):c.771T>C (p.His257=)	SNV Germline	Chr1:160041762	Conflicting classifications of pathogenicity	Condition: not provided EAST syndrome	Criteria Provided Conflicting Classifications	CA1193204	rs_775848365	2 SubmittersRCV000712155 RCV001437710
NM_002241.5(KCNJ10):c.512G>A (p.Arg171Gln)	SNV Germline	Chr1:160042021	Conflicting classifications of pathogenicity	EAST syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA1193239	rs_200320916	4 SubmittersRCV000813502 RCV002345850 RCV005092426
NM_002241.5(KCNJ10):c.*2242T>C	SNV Germline	Chr1:160039151	Conflicting classifications of pathogenicity	EAST syndrome Autosomal recessive nonsyndromic hearing loss 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA31468190	rs_115120891	2 SubmittersRCV001101067 RCV001101068 RCV001785778
NM_002241.5(KCNJ10):c.*2148A>G	SNV Germline	Chr1:160039245	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 4 EAST syndrome	Criteria Provided Conflicting Classifications	CA31468248	rs_75282171	1 SubmittersRCV001101070 RCV001101069
NM_002241.5(KCNJ10):c.*2034C>T	SNV Germline	Chr1:160039359	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 4 EAST syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA31468290	rs_192835895	2 SubmittersRCV001097333 RCV001097334 RCV002251551
NM_002241.5(KCNJ10):c.*266T>A	SNV Germline	Chr1:160041127	Conflicting classifications of pathogenicity	EAST syndrome Autosomal recessive nonsyndromic hearing loss 4	Criteria Provided Conflicting Classifications	CA31469608	rs_144487288	1 SubmittersRCV001101282 RCV001101281
NM_002241.5(KCNJ10):c.1047C>T (p.Tyr349=)	SNV Germline	Chr1:160041486	Conflicting classifications of pathogenicity	EAST syndrome Autosomal recessive nonsyndromic hearing loss 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1193169	rs_368537434	3 SubmittersRCV001099389 RCV001099390 RCV002402496
NM_002241.5(KCNJ10):c.769C>G (p.His257Asp)	SNV Germline	Chr1:160041764	Conflicting classifications of pathogenicity	EAST syndrome Seizure	Criteria Provided Conflicting Classifications	CA343225317	rs_1648612559	2 SubmittersRCV001338715 RCV004554856
NM_002241.5(KCNJ10):c.117G>A (p.Val39=)	SNV Germline	Chr1:160042416	Conflicting classifications of pathogenicity	EAST syndrome Autosomal recessive nonsyndromic hearing loss 4 EAST syndrome	Criteria Provided Conflicting Classifications	CA421597793	rs_898999212	2 SubmittersRCV001493485 RCV005040291
NM_002241.5(KCNJ10):c.400C>A (p.Arg134Ser)	SNV Unknown	Chr1:160042133	Likely pathogenic	EAST syndrome	Criteria Provided Single Submitter	CA343227637	rs_1648622680	1 SubmittersRCV001730055
NM_002241.5(KCNJ10):c.115G>A (p.Val39Met)	SNV Germline	Chr1:160042418	Conflicting classifications of pathogenicity	Condition: not provided EAST syndrome Seizure Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA343230174	rs_1274663711	4 SubmittersRCV001822117 RCV002542491 RCV004552036 RCV002542492
NM_002241.5(KCNJ10):c.236G>A (p.Trp79Ter)	SNV Germline	Chr1:160042297	Pathogenic	EAST syndrome	Criteria Provided Single Submitter	CA343229348	rs_2525430986	1 SubmittersRCV003618900
NM_002241.5(KCNJ10):c.170C>T (p.Thr57Ile)	SNV Germline	Chr1:160042363	Likely pathogenic	EAST syndrome	Criteria Provided Single Submitter	CA343229787	rs_2525431132	1 SubmittersRCV003985003
NM_002241.5(KCNJ10):c.331C>T (p.Gln111Ter)	SNV Germline	Chr1:160042202	Pathogenic	EAST syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005129208
NM_002241.5(KCNJ10):c.198C>G (p.Tyr66Ter)	SNV Germline	Chr1:160042335	Pathogenic	EAST syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005140599

NM_002241.5(KCNJ10):c.194G>C (p.Arg65Pro)

SNV
Germline

Chr1:160042339

Pathogenic

EAST syndrome
Cerebellar ataxia
Bilateral sensorineural hearing impairment
Spastic diplegia
Renal tubular dysfunction
Microcephaly

No Assertion Criteria Provided

CA118807

rs_137853066

2 SubmittersRCV000007888 RCV001003572

NM_002241.5(KCNJ10):c.595C>T (p.Arg199Ter)

SNV
Germline

Chr1:160041938

Pathogenic/Likely pathogenic

EAST syndrome
Autosomal recessive nonsyndromic hearing loss 4
Pendred syndrome
EAST syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA118808

rs_137853067

5 SubmittersRCV000007889 RCV002496303 RCV003128569

NM_002241.5(KCNJ10):c.418T>C (p.Cys140Arg)

SNV
Germline

Chr1:160042115

Pathogenic

EAST syndrome

No Assertion Criteria Provided

CA118810

rs_137853068

1 SubmittersRCV000007890

NM_002241.5(KCNJ10):c.491C>T (p.Thr164Ile)

SNV
Germline

Chr1:160042042

Pathogenic

EAST syndrome

No Assertion Criteria Provided

CA118811

rs_137853069

1 SubmittersRCV000007891

NM_002241.5(KCNJ10):c.500C>T (p.Ala167Val)

SNV
Germline

Chr1:160042033

Pathogenic

EAST syndrome
Autosomal recessive nonsyndromic hearing loss 4
Pendred syndrome
EAST syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA118812

rs_137853070

5 SubmittersRCV000007892 RCV001536078 RCV002221471

NM_002241.5(KCNJ10):c.889C>T (p.Arg297Cys)

SNV
Germline

Chr1:160041644

Pathogenic/Likely pathogenic

EAST syndrome
Condition: not provided
EAST syndrome
Pendred syndrome
Autosomal recessive nonsyndromic hearing loss 4

Criteria Provided
Multiple Submitters
No Conflicts

CA118813

rs_137853071

6 SubmittersRCV000007893 RCV000413534 RCV002490337

NM_002241.5(KCNJ10):c.229G>C (p.Gly77Arg)

SNV
Germline

Chr1:160042304

Pathogenic

EAST syndrome

Criteria Provided
Single Submitter

CA118814

rs_137853072

2 SubmittersRCV000007894

NM_002241.5(KCNJ10):c.581C>A (p.Pro194His)

SNV
Germline

Chr1:160041952

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 4
Autosomal recessive nonsyndromic hearing loss 4
EAST syndrome

Criteria Provided
Single Submitter

CA254186

rs_137853073

2 SubmittersRCV000007895 RCV005042011

NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys)

SNV
Germline

Chr1:160041491

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 4
EAST syndrome
Condition: not provided
not specified
KCNJ10-related disorder

Criteria Provided
Conflicting Classifications

CA254188

rs_137853074

9 SubmittersRCV000007896 RCV000687427 RCV000725885 RCV000358648 RCV000784954

NM_002241.5(KCNJ10):c.193C>T (p.Arg65Cys)

SNV
Germline

Chr1:160042340

Likely pathogenic

EAST syndrome

Criteria Provided
Single Submitter

CA129068

rs_387906834

2 SubmittersRCV000023175

NM_002241.5(KCNJ10):c.225T>G (p.Phe75Leu)

SNV
Germline

Chr1:160042308

Pathogenic

EAST syndrome

No Assertion Criteria Provided

CA31471247

rs_757159382

1 SubmittersRCV000023176

NM_002241.5(KCNJ10):c.524G>A (p.Arg175Gln)

SNV
Germline

Chr1:160042009

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
EAST syndrome

Criteria Provided
Conflicting Classifications

CA130855

rs_397514673

4 SubmittersRCV001818209 RCV002336110 RCV000034356

NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln)

SNV
Germline

Chr1:160042480

Conflicting classifications of pathogenicity

not specified
EAST syndrome
Condition: not provided
Intellectual disability
Autism
Seizure
Inborn genetic diseases
KCNJ10-related disorder

Criteria Provided
Conflicting Classifications

CA288914

rs_115466046

11 SubmittersRCV000117319 RCV000234164 RCV000710154 RCV001258301 RCV002312144 RCV004724811

NM_002241.5(KCNJ10):c.812G>A (p.Arg271His)

SNV
Germline

Chr1:160041721

Conflicting classifications of pathogenicity

not specified
EAST syndrome
Autosomal recessive nonsyndromic hearing loss 4
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA288918

rs_3795339

6 SubmittersRCV000117321 RCV000548825 RCV001099392 RCV002313893 RCV001704023

NM_002241.5(KCNJ10):c.1092A>G (p.Gln364=)

SNV
Germline

Chr1:160041441

Conflicting classifications of pathogenicity

not specified
EAST syndrome
Autosomal recessive nonsyndromic hearing loss 4
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA291727

rs_145588542

7 SubmittersRCV000126412 RCV000228457 RCV001097624 RCV001311654 RCV002312893

NM_002241.5(KCNJ10):c.530A>G (p.Glu177Gly)

SNV
Germline

Chr1:160042003

Conflicting classifications of pathogenicity

Condition: not provided
EAST syndrome
Autosomal recessive nonsyndromic hearing loss 4
Autosomal recessive nonsyndromic hearing loss 4
EAST syndrome
KCNJ10-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA241460

rs_145947380

8 SubmittersRCV000724333 RCV000768246 RCV000348162 RCV001084650 RCV004537388 RCV002345601

NM_002241.5(KCNJ10):c.1061A>G (p.Lys354Arg)

SNV
Germline

Chr1:160041472

Conflicting classifications of pathogenicity

EAST syndrome
Autosomal recessive nonsyndromic hearing loss 4
Condition: not provided
Inborn genetic diseases
Autosomal recessive nonsyndromic hearing loss 4
EAST syndrome
Hearing loss, autosomal recessive

Criteria Provided
Conflicting Classifications

CA315275

rs_142596580

9 SubmittersRCV000463470 RCV001334026 RCV000656852 RCV002408834 RCV005003542 RCV004577730

NM_002241.5(KCNJ10):c.1043G>A (p.Arg348His)

SNV
Germline

Chr1:160041490

Conflicting classifications of pathogenicity

EAST syndrome
Autosomal recessive nonsyndromic hearing loss 4
EAST syndrome
Condition: not provided
Pendred syndrome
EAST syndrome
Autosomal recessive nonsyndromic hearing loss 4
Autosomal recessive nonsyndromic hearing loss 4
Intellectual disability
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA315273

rs_146396982

14 SubmittersRCV003224208 RCV000461889 RCV000726871 RCV000764989 RCV001099391 RCV001252025 RCV001818453 RCV002314724

NM_002241.5(KCNJ10):c.735C>G (p.Asp245Glu)

SNV
Germline

Chr1:160041798

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 4
Condition: not provided
EAST syndrome
KCNJ10-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA315257

rs_146426296

8 SubmittersRCV000187803 RCV000281707 RCV000727390 RCV001085271 RCV004539742 RCV002381629

NM_002241.5(KCNJ10):c.688C>T (p.Arg230Trp)

SNV
Germline

Chr1:160041845

Conflicting classifications of pathogenicity

EAST syndrome
Condition: not provided
Inborn genetic diseases
KCNJ10-related disorder

Criteria Provided
Conflicting Classifications

CA315269

rs_149615470

5 SubmittersRCV000704721 RCV000726422 RCV004020271 RCV004537578

NM_002241.5(KCNJ10):c.221C>T (p.Thr74Ile)

SNV
Germline

Chr1:160042312

Conflicting classifications of pathogenicity

Condition: not provided
EAST syndrome

Criteria Provided
Conflicting Classifications

CA315263

rs_796052604

2 SubmittersRCV000187806 RCV000646754

NM_002241.5(KCNJ10):c.179T>C (p.Ile60Thr)

SNV
Germline

Chr1:160042354

Conflicting classifications of pathogenicity

Condition: not provided
EAST syndrome
Inborn genetic diseases
EAST syndrome
Autosomal recessive nonsyndromic hearing loss 4

Criteria Provided
Conflicting Classifications

CA315278

rs_759993423

5 SubmittersRCV000187814 RCV000646755 RCV002311273 RCV005042401

NM_002241.5(KCNJ10):c.52C>T (p.Arg18Trp)

SNV
Germline

Chr1:160042481

Conflicting classifications of pathogenicity

EAST syndrome
Autosomal recessive nonsyndromic hearing loss 4
Condition: not provided
Inborn genetic diseases
EAST syndrome
Autosomal recessive nonsyndromic hearing loss 4

Criteria Provided
Conflicting Classifications

CA315261

rs_138457635

7 SubmittersRCV000464419 RCV001099502 RCV001288236 RCV002314723 RCV005042400

NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter)

SNV
Germline

Chr1:160042457

Conflicting classifications of pathogenicity

Condition: not provided
EAST syndrome
Autosomal recessive nonsyndromic hearing loss 4
Pendred syndrome
EAST syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA207249

rs_138943405

6 SubmittersRCV000578956 RCV000193637 RCV001535830 RCV002399714

NM_002241.5(KCNJ10):c.136G>A (p.Asp46Asn)

SNV
Germline

Chr1:160042397

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 4
EAST syndrome
Inborn genetic diseases
KCNJ10-related disorder

Criteria Provided
Conflicting Classifications

CA1193291

rs_141553756

8 SubmittersRCV000374787 RCV000712154 RCV001097719 RCV001085543 RCV002317765 RCV004541386

NM_002241.5(KCNJ10):c.21G>T (p.Val7=)

SNV
Germline

Chr1:160042512

Conflicting classifications of pathogenicity

Condition: not provided
EAST syndrome

Criteria Provided
Conflicting Classifications

CA10604518

rs_750227861

2 SubmittersRCV000334234 RCV003507272

NM_002241.5(KCNJ10):c.435G>T (p.Val145=)

SNV
Germline

Chr1:160042098

Conflicting classifications of pathogenicity

Condition: not provided
EAST syndrome

Criteria Provided
Conflicting Classifications

CA10604978

rs_886043002

2 SubmittersRCV000286909 RCV005090355

NM_002241.5(KCNJ10):c.615A>G (p.Lys205=)

SNV
Germline

Chr1:160041918

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 4
not specified
Condition: not provided
EAST syndrome
KCNJ10-related disorder

Criteria Provided
Conflicting Classifications

CA1193227

rs_142228240

6 SubmittersRCV000292182 RCV000392700 RCV000726028 RCV001083357 RCV004732827

NM_002241.5(KCNJ10):c.*1839C>T

SNV
Germline

Chr1:160039554

Conflicting classifications of pathogenicity

EAST syndrome
Autosomal recessive nonsyndromic hearing loss 4

Criteria Provided
Conflicting Classifications

CA10607908

rs_138511291

1 SubmittersRCV000296382 RCV000392736

NM_002241.5(KCNJ10):c.*1161T>C

SNV
Germline

Chr1:160040232

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 4
EAST syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10607911

rs_149832483

2 SubmittersRCV000286109 RCV000344467 RCV003311740

NM_002241.5(KCNJ10):c.*2490G>A

SNV
Germline

Chr1:160038903

Conflicting classifications of pathogenicity

EAST syndrome
Autosomal recessive nonsyndromic hearing loss 4

Criteria Provided
Conflicting Classifications

CA10608060

rs_190897143

1 SubmittersRCV000331615 RCV000385878

NM_002241.5(KCNJ10):c.*2394T>C

SNV
Germline

Chr1:160038999

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 4
EAST syndrome

Criteria Provided
Conflicting Classifications

CA10608069

rs_116235450

1 SubmittersRCV000358581 RCV000405763

NM_002241.5(KCNJ10):c.*3506C>T

SNV
Germline

Chr1:160037887

Conflicting classifications of pathogenicity

EAST syndrome
Autosomal recessive nonsyndromic hearing loss 4

Criteria Provided
Conflicting Classifications

CA10608373

rs_79012831

1 SubmittersRCV000283745 RCV000378319

NM_002241.5(KCNJ10):c.405C>T (p.Tyr135=)

SNV
Germline

Chr1:160042128

Conflicting classifications of pathogenicity

EAST syndrome
Autosomal recessive nonsyndromic hearing loss 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1193248

rs_765590257

3 SubmittersRCV000268522 RCV000358462 RCV003409436

NM_002241.5(KCNJ10):c.296T>C (p.Leu99Pro)

SNV
Germline

Chr1:160042237

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 4
EAST syndrome
Condition: not provided
EAST syndrome
Autosomal recessive nonsyndromic hearing loss 4

Criteria Provided
Conflicting Classifications

CA1193261

rs_540341763

4 SubmittersRCV000259824 RCV000354704 RCV000520568 RCV005003617

NM_002241.5(KCNJ10):c.*2596A>G

SNV
Germline

Chr1:160038797

Conflicting classifications of pathogenicity

EAST syndrome
Autosomal recessive nonsyndromic hearing loss 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10608463

rs_116418256

2 SubmittersRCV000304369 RCV000359101 RCV002510836

NM_002241.5(KCNJ10):c.219G>A (p.Ala73=)

SNV
Germline

Chr1:160042314

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 4
not specified
EAST syndrome
KCNJ10-related disorder
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1193277

rs_144495959

8 SubmittersRCV001097717 RCV000426056 RCV001087546 RCV004544736 RCV000727079 RCV002314145

NM_002241.5(KCNJ10):c.147C>T (p.Phe49=)

SNV
Germline

Chr1:160042386

Conflicting classifications of pathogenicity

not specified
EAST syndrome
Autosomal recessive nonsyndromic hearing loss 4

Criteria Provided
Conflicting Classifications

CA16603479

rs_1057523361

2 SubmittersRCV000431607 RCV005044643

NM_002241.5(KCNJ10):c.21G>A (p.Val7=)

SNV
Germline

Chr1:160042512

Conflicting classifications of pathogenicity

Condition: not provided
EAST syndrome
Autosomal recessive nonsyndromic hearing loss 4

Criteria Provided
Conflicting Classifications

CA1193307

rs_750227861

3 SubmittersRCV001698281 RCV001099503 RCV001099504

NM_002241.5(KCNJ10):c.305C>T (p.Pro102Leu)

SNV
Germline

Chr1:160042228

Conflicting classifications of pathogenicity

EAST syndrome
Condition: not provided
EAST syndrome
Autosomal recessive nonsyndromic hearing loss 4

Criteria Provided
Conflicting Classifications

CA1193258

rs_372156619

3 SubmittersRCV000469596 RCV000520403 RCV005044694

NM_002241.5(KCNJ10):c.300C>A (p.Asp100Glu)

SNV
Germline

Chr1:160042233

Conflicting classifications of pathogenicity

not specified
EAST syndrome
Inborn genetic diseases
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 4
EAST syndrome

Criteria Provided
Conflicting Classifications

CA1193259

rs_139069413

7 SubmittersRCV000503569 RCV000558913 RCV002438220 RCV001550181 RCV005044754

NM_002241.5(KCNJ10):c.1051G>A (p.Asp351Asn)

SNV
Germline

Chr1:160041482

Conflicting classifications of pathogenicity

Condition: not provided
EAST syndrome
Autosomal recessive nonsyndromic hearing loss 4
Pendred syndrome
Intellectual disability
EAST syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1193166

rs_373899425

5 SubmittersRCV000522945 RCV000764988 RCV001252024 RCV001489554 RCV004629231

NM_002241.5(KCNJ10):c.336G>A (p.Val112=)

SNV
Germline

Chr1:160042197

Conflicting classifications of pathogenicity

Condition: not provided
EAST syndrome

Criteria Provided
Conflicting Classifications

CA1193254

rs_781357184

2 SubmittersRCV000594999 RCV002062050

NM_002241.5(KCNJ10):c.511C>T (p.Arg171Trp)

SNV
Germline

Chr1:160042022

Conflicting classifications of pathogenicity

EAST syndrome
Autosomal recessive nonsyndromic hearing loss 4
EAST syndrome
Pendred syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1193240

rs_769666695

3 SubmittersRCV000646757 RCV000764991 RCV004808823

NM_002241.5(KCNJ10):c.771T>C (p.His257=)

SNV
Germline

Chr1:160041762

Conflicting classifications of pathogenicity

Condition: not provided
EAST syndrome

Criteria Provided
Conflicting Classifications

CA1193204

rs_775848365

2 SubmittersRCV000712155 RCV001437710

NM_002241.5(KCNJ10):c.512G>A (p.Arg171Gln)

SNV
Germline

Chr1:160042021

Conflicting classifications of pathogenicity

EAST syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1193239

rs_200320916

4 SubmittersRCV000813502 RCV002345850 RCV005092426

NM_002241.5(KCNJ10):c.*2242T>C

SNV
Germline

Chr1:160039151

Conflicting classifications of pathogenicity

EAST syndrome
Autosomal recessive nonsyndromic hearing loss 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA31468190

rs_115120891

2 SubmittersRCV001101067 RCV001101068 RCV001785778

NM_002241.5(KCNJ10):c.*2148A>G

SNV
Germline

Chr1:160039245

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 4
EAST syndrome

Criteria Provided
Conflicting Classifications

CA31468248

rs_75282171

1 SubmittersRCV001101070 RCV001101069

NM_002241.5(KCNJ10):c.*2034C>T

SNV
Germline

Chr1:160039359

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 4
EAST syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA31468290

rs_192835895

2 SubmittersRCV001097333 RCV001097334 RCV002251551

NM_002241.5(KCNJ10):c.*266T>A

SNV
Germline

Chr1:160041127

Conflicting classifications of pathogenicity

EAST syndrome
Autosomal recessive nonsyndromic hearing loss 4

Criteria Provided
Conflicting Classifications

CA31469608

rs_144487288

1 SubmittersRCV001101282 RCV001101281

NM_002241.5(KCNJ10):c.1047C>T (p.Tyr349=)

SNV
Germline

Chr1:160041486

Conflicting classifications of pathogenicity

EAST syndrome
Autosomal recessive nonsyndromic hearing loss 4
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1193169

rs_368537434

3 SubmittersRCV001099389 RCV001099390 RCV002402496

NM_002241.5(KCNJ10):c.769C>G (p.His257Asp)

SNV
Germline

Chr1:160041764

Conflicting classifications of pathogenicity

EAST syndrome
Seizure

Criteria Provided
Conflicting Classifications

CA343225317

rs_1648612559

2 SubmittersRCV001338715 RCV004554856

NM_002241.5(KCNJ10):c.117G>A (p.Val39=)

SNV
Germline

Chr1:160042416

Conflicting classifications of pathogenicity

EAST syndrome
Autosomal recessive nonsyndromic hearing loss 4
EAST syndrome

Criteria Provided
Conflicting Classifications

CA421597793

rs_898999212

2 SubmittersRCV001493485 RCV005040291

NM_002241.5(KCNJ10):c.400C>A (p.Arg134Ser)

SNV
Unknown

Chr1:160042133

Likely pathogenic

EAST syndrome

Criteria Provided
Single Submitter

CA343227637

rs_1648622680

1 SubmittersRCV001730055

NM_002241.5(KCNJ10):c.115G>A (p.Val39Met)

SNV
Germline

Chr1:160042418

Conflicting classifications of pathogenicity

Condition: not provided
EAST syndrome
Seizure
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA343230174

rs_1274663711

4 SubmittersRCV001822117 RCV002542491 RCV004552036 RCV002542492

NM_002241.5(KCNJ10):c.236G>A (p.Trp79Ter)

SNV
Germline

Chr1:160042297

Pathogenic

EAST syndrome

Criteria Provided
Single Submitter

CA343229348

rs_2525430986

1 SubmittersRCV003618900

NM_002241.5(KCNJ10):c.170C>T (p.Thr57Ile)

SNV
Germline

Chr1:160042363

Likely pathogenic

EAST syndrome

Criteria Provided
Single Submitter

CA343229787

rs_2525431132

1 SubmittersRCV003985003

NM_002241.5(KCNJ10):c.331C>T (p.Gln111Ter)

SNV
Germline

Chr1:160042202

Pathogenic

EAST syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005129208

NM_002241.5(KCNJ10):c.198C>G (p.Tyr66Ter)

SNV
Germline

Chr1:160042335

Pathogenic

EAST syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005140599