Total 93 pathogenic variants reported for Ethylmalonic encephalopathy 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_014297.5(ETHE1):c.487C>T (p.Arg163Trp) SNV
Germline		 Chr19:43511455 Pathogenic Ethylmalonic encephalopathy
Condition: not provided		 Reviewed By Expert Panel
 CA115479 rs_28940289

11 SubmittersRCV000002407RCV004721241
NM_014297.5(ETHE1):c.3G>T (p.Met1Ile) SNV
Germline		 Chr19:43527175 Pathogenic Ethylmalonic encephalopathy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA115480 rs_119103249

5 SubmittersRCV000002408RCV000197782
NM_014297.5(ETHE1):c.554T>G (p.Leu185Arg) SNV
Germline		 Chr19:43508816 Pathogenic Ethylmalonic encephalopathy Criteria Provided
Multiple Submitters
No Conflicts
 CA129416 rs_387906987

9 SubmittersRCV000023703
NM_014297.5(ETHE1):c.608C>T (p.Ser203Phe) SNV
Germline		 Chr19:43508048 Conflicting classifications of pathogenicity Ethylmalonic encephalopathy
not specified		 Criteria Provided
Conflicting Classifications
 CA9487793 rs_267605525

2 SubmittersRCV003074995RCV005419553
NM_014297.5(ETHE1):c.596-2A>G SNV
Germline		 Chr19:43508062 Likely pathogenic Ethylmalonic encephalopathy Criteria Provided
Multiple Submitters
No Conflicts
 CA321295 rs_863223954

3 SubmittersRCV001377167
NM_014297.5(ETHE1):c.488G>A (p.Arg163Gln) SNV
Germline		 Chr19:43511454 Pathogenic Ethylmalonic encephalopathy Reviewed By Expert Panel
 CA320215 rs_745656120

12 SubmittersRCV000276936
NM_014297.5(ETHE1):c.184G>A (p.Ala62Thr) SNV
Germline		 Chr19:43526557 Conflicting classifications of pathogenicity not specified
Ethylmalonic encephalopathy
Condition: not provided
Inborn genetic diseases
ETHE1-related disorder		 Criteria Provided
Conflicting Classifications
 CA321242 rs_138958351

9 SubmittersRCV000196829RCV000383149RCV000767331RCV002517209RCV004757161
NM_014297.5(ETHE1):c.9G>A (p.Glu3=) SNV
Germline		 Chr19:43527169 Conflicting classifications of pathogenicity Ethylmalonic encephalopathy
not specified		 Criteria Provided
Conflicting Classifications
 CA9487980 rs_773937760

4 SubmittersRCV000325164RCV005434837
NM_014297.5(ETHE1):c.505+1G>C SNV
Germline		 Chr19:43511436 Pathogenic Ethylmalonic encephalopathy No Assertion Criteria Provided
 CA406175433 rs_935855792

1 SubmittersRCV000495931
NM_014297.5(ETHE1):c.494A>G (p.Asp165Gly) SNV
Germline		 Chr19:43511448 Likely pathogenic Ethylmalonic encephalopathy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA9487848 rs_756235299

5 SubmittersRCV000501489RCV000523639
NM_014297.5(ETHE1):c.482G>A (p.Cys161Tyr) SNV
Germline		 Chr19:43511460 Likely pathogenic Ethylmalonic encephalopathy
Abnormality of the nervous system		 Criteria Provided
Multiple Submitters
No Conflicts
 CA406175487 rs_1555762722

6 SubmittersRCV000503577RCV001814171
NM_014297.5(ETHE1):c.586G>A (p.Asp196Asn) SNV
Germline		 Chr19:43508784 Pathogenic/Likely pathogenic Ethylmalonic encephalopathy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA9487819 rs_763799125

8 SubmittersRCV000578436RCV002307552
NM_014297.5(ETHE1):c.375+5G>A SNV
Germline		 Chr19:43526196 Pathogenic/Likely pathogenic Ethylmalonic encephalopathy Criteria Provided
Multiple Submitters
No Conflicts
 CA9487889 rs_769259233

6 SubmittersRCV000578329
NM_014297.5(ETHE1):c.505+1G>A SNV
Germline		 Chr19:43511436 Pathogenic Ethylmalonic encephalopathy Reviewed By Expert Panel
 CA308743496 rs_935855792

4 SubmittersRCV000589263
NM_014297.5(ETHE1):c.406A>G (p.Thr136Ala) SNV
Germline		 Chr19:43511536 Pathogenic Ethylmalonic encephalopathy Criteria Provided
Multiple Submitters
No Conflicts
 CA406175649 rs_1284200516

3 SubmittersRCV000587866
NM_014297.5(ETHE1):c.34C>T (p.Gln12Ter) SNV
Germline		 Chr19:43527144 Pathogenic Ethylmalonic encephalopathy Criteria Provided
Single Submitter
 CA406182308 rs_1555765701

2 SubmittersRCV000598827
NM_014297.5(ETHE1):c.187C>T (p.Gln63Ter) SNV
Germline		 Chr19:43526554 Pathogenic/Likely pathogenic Ethylmalonic encephalopathy Criteria Provided
Multiple Submitters
No Conflicts
 CA9487934 rs_368778231

4 SubmittersRCV000598580
NM_014297.5(ETHE1):c.505+1G>T SNV
Germline		 Chr19:43511436 Pathogenic Ethylmalonic encephalopathy Reviewed By Expert Panel
 CA406175434 rs_935855792

4 SubmittersRCV000598891
NM_014297.5(ETHE1):c.226+1G>T SNV
Germline		 Chr19:43526514 Likely pathogenic Ethylmalonic encephalopathy Criteria Provided
Single Submitter
 CA406180535 rs_1555765524

1 SubmittersRCV000644795
NM_014297.5(ETHE1):c.595+2T>G SNV
Germline		 Chr19:43508773 Likely pathogenic Ethylmalonic encephalopathy Criteria Provided
Multiple Submitters
No Conflicts
 CA9487817 rs_761661864

2 SubmittersRCV000700806
NM_014297.5(ETHE1):c.79C>A (p.Gln27Lys) SNV
Germline		 Chr19:43527099 Pathogenic/Likely pathogenic Ethylmalonic encephalopathy
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA9487970 rs_749803238

6 SubmittersRCV000755051RCV001557377
NM_014297.5(ETHE1):c.2T>C (p.Met1Thr) SNV
Germline		 Chr19:43527176 Pathogenic/Likely pathogenic Ethylmalonic encephalopathy Criteria Provided
Multiple Submitters
No Conflicts
 CA406182597 rs_1470124674

3 SubmittersRCV000779260
NM_014297.5(ETHE1):c.295C>T (p.Gln99Ter) SNV
Germline		 Chr19:43526281 Pathogenic Ethylmalonic encephalopathy Criteria Provided
Single Submitter
 CA406179513 rs_1600019095

1 SubmittersRCV000792939
NM_014297.5(ETHE1):c.489G>A (p.Arg163=) SNV
Germline		 Chr19:43511453 Conflicting classifications of pathogenicity Ethylmalonic encephalopathy
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9487849 rs_533076307

4 SubmittersRCV000944155RCV003884817
NM_014297.5(ETHE1):c.596-6C>T SNV
Germline		 Chr19:43508066 Conflicting classifications of pathogenicity Condition: not provided
Ethylmalonic encephalopathy		 Criteria Provided
Conflicting Classifications
 CA915951695 rs_1599982861

2 SubmittersRCV000996939RCV003497915
NM_014297.5(ETHE1):c.535C>T (p.His179Tyr) SNV
Germline		 Chr19:43508835 Conflicting classifications of pathogenicity Ethylmalonic encephalopathy
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9487828 rs_370182416

3 SubmittersRCV001134310RCV005416471
NM_014297.5(ETHE1):c.138G>A (p.Arg46=) SNV
Germline		 Chr19:43526603 Conflicting classifications of pathogenicity Ethylmalonic encephalopathy Criteria Provided
Conflicting Classifications
 CA406181463 rs_1182285073

2 SubmittersRCV001128793
NM_014297.5(ETHE1):c.79C>T (p.Gln27Ter) SNV
Germline		 Chr19:43527099 Pathogenic/Likely pathogenic Ethylmalonic encephalopathy Criteria Provided
Multiple Submitters
No Conflicts
 CA9487971 rs_749803238

2 SubmittersRCV001202525
NM_014297.5(ETHE1):c.587A>T (p.Asp196Val) SNV
Germline		 Chr19:43508783 Conflicting classifications of pathogenicity Ethylmalonic encephalopathy Criteria Provided
Conflicting Classifications
 CA308741522 rs_1008232313

2 SubmittersRCV001245036
NM_014297.5(ETHE1):c.43C>T (p.Gln15Ter) SNV
Germline		 Chr19:43527135 Pathogenic/Likely pathogenic Ethylmalonic encephalopathy Criteria Provided
Multiple Submitters
No Conflicts
 CA406182241 rs_2146021370

3 SubmittersRCV001385547
NM_014297.5(ETHE1):c.357C>T (p.Ser119=) SNV
Germline		 Chr19:43526219 Conflicting classifications of pathogenicity Ethylmalonic encephalopathy
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA9487894 rs_759810296

2 SubmittersRCV001462406RCV004770156
NM_014297.5(ETHE1):c.475C>T (p.Arg159Cys) SNV
Germline		 Chr19:43511467 Conflicting classifications of pathogenicity Condition: not provided
Ethylmalonic encephalopathy		 No Assertion Criteria Provided
 CA9487852 rs_540383420

3 SubmittersRCV001723334RCV004770193
NM_014297.5(ETHE1):c.506-2A>G SNV
Germline		 Chr19:43508866 Likely pathogenic Ethylmalonic encephalopathy Criteria Provided
Multiple Submitters
No Conflicts
 CA406175290 rs_2145979349

2 SubmittersRCV001989465
NM_014297.5(ETHE1):c.596-2A>T SNV
Germline		 Chr19:43508062 Likely pathogenic Ethylmalonic encephalopathy Criteria Provided
Multiple Submitters
No Conflicts
 CA406175082 rs_863223954

2 SubmittersRCV002000629
NM_014297.5(ETHE1):c.622G>T (p.Glu208Ter) SNV
Germline		 Chr19:43508034 Pathogenic Ethylmalonic encephalopathy Criteria Provided
Single Submitter
 CA406175023 rs_2145977394

1 SubmittersRCV001874236
NM_014297.5(ETHE1):c.325C>T (p.Gln109Ter) SNV
Germline		 Chr19:43526251 Pathogenic Ethylmalonic encephalopathy Criteria Provided
Single Submitter
 CA406179191 rs_2146018812

1 SubmittersRCV001920091
NM_014297.5(ETHE1):c.2T>A (p.Met1Lys) SNV
Germline		 Chr19:43527176 Pathogenic Ethylmalonic encephalopathy Criteria Provided
Single Submitter
 CA406182602 rs_1470124674

1 SubmittersRCV003079234
NM_014297.5(ETHE1):c.81+1G>T SNV
Germline		 Chr19:43527096 Likely pathogenic Ethylmalonic encephalopathy Criteria Provided
Multiple Submitters
No Conflicts
 CA406181957 rs_2513631545

2 SubmittersRCV003118677
NM_014297.5(ETHE1):c.596-1G>A SNV
Germline		 Chr19:43508061 Pathogenic/Likely pathogenic Ethylmalonic encephalopathy Criteria Provided
Multiple Submitters
No Conflicts
 CA406175081 rs_1487930609

2 SubmittersRCV002658079
NM_014297.5(ETHE1):c.595+2T>A SNV
Germline		 Chr19:43508773 Likely pathogenic Ethylmalonic encephalopathy Criteria Provided
Single Submitter
 CA406175084 rs_761661864

1 SubmittersRCV002921945
NM_014297.5(ETHE1):c.406A>T (p.Thr136Ser) SNV
Germline		 Chr19:43511536 Likely pathogenic Ethylmalonic encephalopathy Criteria Provided
Single Submitter
 CA406175648 rs_1284200516

1 SubmittersRCV003038856
NM_014297.5(ETHE1):c.227-2A>C SNV
Germline		 Chr19:43526351 Likely pathogenic Ethylmalonic encephalopathy Criteria Provided
Multiple Submitters
No Conflicts
 CA9487909 rs_370880966

3 SubmittersRCV003145014
NM_014297.5(ETHE1):c.227-1G>T SNV
Unknown		 Chr19:43526350 Likely pathogenic Ethylmalonic encephalopathy Criteria Provided
Single Submitter
 CA406180178 rs_2513629634

1 SubmittersRCV003467947
NM_014297.5(ETHE1):c.703C>T (p.Gln235Ter) SNV
Unknown		 Chr19:43507953 Likely pathogenic Ethylmalonic encephalopathy Criteria Provided
Single Submitter
 CA406174847 rs_2513603652

1 SubmittersRCV003460031
NM_014297.5(ETHE1):c.376-2A>G SNV
Unknown		 Chr19:43511568 Likely pathogenic Ethylmalonic encephalopathy Criteria Provided
Single Submitter
 CA406175720 rs_2513609859

1 SubmittersRCV003460033
NM_014297.5(ETHE1):c.586G>C (p.Asp196His) SNV
Germline		 Chr19:43508784 Likely pathogenic Ethylmalonic encephalopathy Criteria Provided
Multiple Submitters
No Conflicts
 CA406175112 rs_763799125

2 SubmittersRCV003476399
NM_014297.5(ETHE1):c.375+1G>T SNV
Unknown		 Chr19:43526200 Likely pathogenic Ethylmalonic encephalopathy Criteria Provided
Single Submitter
 CA406178740 rs_1417306550

1 SubmittersRCV003467951
NM_014297.5(ETHE1):c.82-2A>G SNV
Germline		 Chr19:43526661 Likely pathogenic Ethylmalonic encephalopathy Criteria Provided
Single Submitter
 CA406181807 rs_2513630522

1 SubmittersRCV003498076
NM_014297.5(ETHE1):c.1A>C (p.Met1Leu) SNV
Germline		 Chr19:43527177 Pathogenic Ethylmalonic encephalopathy Criteria Provided
Single Submitter
 CA406182623 rs_2513631822

1 SubmittersRCV003604501
NM_014297.5(ETHE1):c.227-2A>G SNV
Germline		 Chr19:43526351 Likely pathogenic Ethylmalonic encephalopathy Criteria Provided
Single Submitter
 CA308753663 rs_370880966

1 SubmittersRCV003602914
NM_014297.5(ETHE1):c.263C>T (p.Ser88Leu) SNV
Germline		 Chr19:43526313 Likely pathogenic Ethylmalonic encephalopathy Criteria Provided
Single Submitter
 rs_1972245042

1 SubmittersRCV004586319
NM_014297.5(ETHE1):c.233C>T (p.Thr78Ile) SNV
Germline		 Chr19:43526343 Likely pathogenic Ethylmalonic encephalopathy Criteria Provided
Single Submitter
 rs_1972246084

1 SubmittersRCV004595306
NM_014297.5(ETHE1):c.506-1G>A SNV
Germline		 Chr19:43508865 Likely pathogenic Ethylmalonic encephalopathy Criteria Provided
Single Submitter

1 SubmittersRCV005015771