Total 55 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
Microcephaly
Cerebellar ataxia
Renal tubular dysfunction
Bilateral sensorineural hearing impairment
Spastic diplegia		 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
Pendred syndrome
Autosomal recessive nonsyndromic hearing loss 4
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
Pendred syndrome
Autosomal recessive nonsyndromic hearing loss 4
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
Pendred syndrome
Autosomal recessive nonsyndromic hearing loss 4
EAST syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA118813 rs_137853071

5 SubmittersRCV000007893RCV000413534RCV002490337
NM_002241.5(KCNJ10):c.229G>C (p.Gly77Arg) SNV
Germline		 Chr1:160042304 Likely pathogenic EAST syndrome Criteria Provided
Single Submitter
 CA118814 rs_137853072

2 SubmittersRCV000007894
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
 rs_757159382

1 SubmittersRCV000023176
NM_002241.5(KCNJ10):c.524G>A (p.Arg175Gln) SNV
Germline		 Chr1:160042009 Conflicting classifications of pathogenicity EAST syndrome
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA130855 rs_397514673

4 SubmittersRCV000034356RCV001818209RCV002336110
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln) SNV
Germline		 Chr1:160042480 Conflicting classifications of pathogenicity not specified
EAST syndrome
Condition: not provided
Inborn genetic diseases
Seizure
Autism
Intellectual disability		 Criteria Provided
Conflicting Classifications
 CA288914 rs_115466046

11 SubmittersRCV000117319RCV000234164RCV000710154RCV002312144RCV001258301
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
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA288918 rs_3795339

6 SubmittersRCV000117321RCV000548825RCV001099392RCV001704023RCV002313893
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 Autosomal recessive nonsyndromic hearing loss 4
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 4
EAST syndrome
EAST syndrome
Inborn genetic diseases
KCNJ10-related disorder		 Criteria Provided
Conflicting Classifications
 CA241460 rs_145947380

8 SubmittersRCV000348162RCV000724333RCV000768246RCV001084650RCV002345601RCV004537388
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
Inborn genetic diseases
KCNJ10-related disorder		 Criteria Provided
Conflicting Classifications
 CA315257 rs_146426296

8 SubmittersRCV000187803RCV000281707RCV000727390RCV001085271RCV002381629RCV004539742
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		 Criteria Provided
Conflicting Classifications
 CA315278 rs_759993423

4 SubmittersRCV000187814RCV000646755RCV002311273
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		 Criteria Provided
Conflicting Classifications
 CA315261 rs_138457635

6 SubmittersRCV000464419RCV001099502RCV001288236RCV002314723
NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter) SNV
Germline		 Chr1:160042457 Conflicting classifications of pathogenicity EAST syndrome
KCNJ10-related disorder
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 4
Pendred syndrome
EAST syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA207249 rs_138943405

7 SubmittersRCV000193637RCV000319701RCV000578956RCV001535830RCV002399714
NM_002241.5(KCNJ10):c.136G>A (p.Asp46Asn) SNV
Germline		 Chr1:160042397 Conflicting classifications of pathogenicity not specified
Condition: not provided
EAST syndrome
Autosomal recessive nonsyndromic hearing loss 4
Seizure
Intellectual disability
Inborn genetic diseases
KCNJ10-related disorder		 Criteria Provided
Conflicting Classifications
 CA1193291 rs_141553756

8 SubmittersRCV000374787RCV000712154RCV001085543RCV001097719RCV001255129RCV002317765RCV004541386
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.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		 Criteria Provided
Conflicting Classifications
 CA1193227 rs_142228240

5 SubmittersRCV000292182RCV000392700RCV000726028RCV001083357
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.*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 not specified
Condition: not provided
EAST syndrome
Autosomal recessive nonsyndromic hearing loss 4
Inborn genetic diseases
KCNJ10-related disorder		 Criteria Provided
Conflicting Classifications
 CA1193277 rs_144495959

8 SubmittersRCV000426056RCV000727079RCV001087546RCV001097717RCV002314145RCV004544736
NM_002241.5(KCNJ10):c.21G>A (p.Val7=) SNV
Germline		 Chr1:160042512 Conflicting classifications of pathogenicity EAST syndrome
Autosomal recessive nonsyndromic hearing loss 4
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1193307 rs_750227861

3 SubmittersRCV001099503RCV001099504RCV001698281
NM_002241.5(KCNJ10):c.305C>T (p.Pro102Leu) SNV
Germline		 Chr1:160042228 Conflicting classifications of pathogenicity EAST syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1193258 rs_372156619

2 SubmittersRCV000469596RCV000520403
NM_002241.5(KCNJ10):c.300C>A (p.Asp100Glu) SNV
Germline		 Chr1:160042233 Conflicting classifications of pathogenicity not specified
EAST syndrome
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1193259 rs_139069413

6 SubmittersRCV000503569RCV000558913RCV001550181RCV002438220
NM_002241.5(KCNJ10):c.1051G>A (p.Asp351Asn) SNV
Germline		 Chr1:160041482 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive nonsyndromic hearing loss 4
EAST syndrome
Pendred syndrome
Intellectual disability
EAST syndrome		 Criteria Provided
Conflicting Classifications
 CA1193166 rs_373899425

4 SubmittersRCV000522945RCV000764988RCV001252024RCV001489554
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.771T>C (p.His257=) SNV
Germline		 Chr1:160041762 Conflicting classifications of pathogenicity Condition: not provided
EAST syndrome		 Criteria Provided
Conflicting Classifications
 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		 Criteria Provided
Conflicting Classifications
 rs_200320916

3 SubmittersRCV000813502RCV002345850
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
 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
 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
 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
 rs_144487288

1 SubmittersRCV001101282RCV001101281
NM_002241.5(KCNJ10):c.1047C>T (p.Tyr349=) SNV
Germline		 Chr1:160041486 Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4
EAST syndrome
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_368537434

3 SubmittersRCV001099390RCV001099389RCV002402496
NM_002241.5(KCNJ10):c.769C>G (p.His257Asp) SNV
Germline		 Chr1:160041764 Conflicting classifications of pathogenicity EAST syndrome
Seizure		 Criteria Provided
Conflicting Classifications
 rs_1648612559

2 SubmittersRCV001338715RCV004554856
NM_002241.5(KCNJ10):c.400C>A (p.Arg134Ser) SNV
Unknown		 Chr1:160042133 Likely pathogenic EAST syndrome Criteria Provided
Single Submitter
 rs_1648622680

1 SubmittersRCV001730055
NM_002241.5(KCNJ10):c.115G>A (p.Val39Met) SNV
Germline		 Chr1:160042418 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
EAST syndrome
Seizure		 Criteria Provided
Conflicting Classifications
 rs_1274663711

4 SubmittersRCV001822117RCV002542492RCV002542491RCV004552036
NM_002241.5(KCNJ10):c.236G>A (p.Trp79Ter) SNV
Germline		 Chr1:160042297 Pathogenic EAST syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003618900
NM_002241.5(KCNJ10):c.170C>T (p.Thr57Ile) SNV
Germline		 Chr1:160042363 Likely pathogenic EAST syndrome Criteria Provided
Single Submitter

1 SubmittersRCV003985003