Total 67 pathogenic variants reported for EAST syndrome 
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 SubmittersRCV000007888RCV001003572

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 SubmittersRCV000007889RCV002496303RCV003128569

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 SubmittersRCV000007892RCV001536078RCV002221471

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 SubmittersRCV000007893RCV000413534RCV002490337

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 SubmittersRCV000007895RCV005042011

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 SubmittersRCV000007896RCV000687427RCV000725885RCV000358648RCV000784954

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 SubmittersRCV001818209RCV002336110RCV000034356

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 SubmittersRCV000117319RCV000234164RCV000710154RCV001258301RCV002312144RCV004724811

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 SubmittersRCV000117321RCV000548825RCV001099392RCV002313893RCV001704023

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 SubmittersRCV000126412RCV000228457RCV001097624RCV001311654RCV002312893

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 SubmittersRCV000724333RCV000768246RCV000348162RCV001084650RCV004537388RCV002345601

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 SubmittersRCV000463470RCV001334026RCV000656852RCV002408834RCV005003542RCV004577730

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 SubmittersRCV003224208RCV000461889RCV000726871RCV000764989RCV001099391RCV001252025RCV001818453RCV002314724

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 SubmittersRCV000187803RCV000281707RCV000727390RCV001085271RCV004539742RCV002381629

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 SubmittersRCV000704721RCV000726422RCV004020271RCV004537578

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 SubmittersRCV000187806RCV000646754

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 SubmittersRCV000187814RCV000646755RCV002311273RCV005042401

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 SubmittersRCV000464419RCV001099502RCV001288236RCV002314723RCV005042400

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 SubmittersRCV000578956RCV000193637RCV001535830RCV002399714

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 SubmittersRCV000374787RCV000712154RCV001097719RCV001085543RCV002317765RCV004541386

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 SubmittersRCV000334234RCV003507272

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 SubmittersRCV000286909RCV005090355

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 SubmittersRCV000292182RCV000392700RCV000726028RCV001083357RCV004732827

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 SubmittersRCV000296382RCV000392736

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 SubmittersRCV000286109RCV000344467RCV003311740

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 SubmittersRCV000331615RCV000385878

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 SubmittersRCV000358581RCV000405763

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 SubmittersRCV000283745RCV000378319

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 SubmittersRCV000268522RCV000358462RCV003409436

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 SubmittersRCV000259824RCV000354704RCV000520568RCV005003617

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 SubmittersRCV000304369RCV000359101RCV002510836

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 SubmittersRCV001097717RCV000426056RCV001087546RCV004544736RCV000727079RCV002314145

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 SubmittersRCV000431607RCV005044643

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 SubmittersRCV001698281RCV001099503RCV001099504

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 SubmittersRCV000469596RCV000520403RCV005044694

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 SubmittersRCV000503569RCV000558913RCV002438220RCV001550181RCV005044754

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 SubmittersRCV000522945RCV000764988RCV001252024RCV001489554RCV004629231

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 SubmittersRCV000594999RCV002062050

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 SubmittersRCV000646757RCV000764991RCV004808823

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 SubmittersRCV000712155RCV001437710

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 SubmittersRCV000813502RCV002345850RCV005092426

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 SubmittersRCV001101067RCV001101068RCV001785778

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 SubmittersRCV001101070RCV001101069

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 SubmittersRCV001097333RCV001097334RCV002251551

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 SubmittersRCV001101282RCV001101281

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 SubmittersRCV001099389RCV001099390RCV002402496

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 SubmittersRCV001338715RCV004554856

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 SubmittersRCV001493485RCV005040291

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 SubmittersRCV001822117RCV002542491RCV004552036RCV002542492

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