Total 87 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 Reviewed By Expert Panel
 CA115479 rs_28940289

10 SubmittersRCV000002407
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

8 SubmittersRCV000023703
NM_014297.5(ETHE1):c.608C>T (p.Ser203Phe) SNV
Germline		 Chr19:43508048 Likely pathogenic Ethylmalonic encephalopathy Criteria Provided
Single Submitter
 rs_267605525

1 SubmittersRCV003074995
NM_014297.5(ETHE1):c.-47C>T SNV
Germline		 Chr19:43527224 Conflicting classifications of pathogenicity not specified
Ethylmalonic encephalopathy		 Criteria Provided
Conflicting Classifications
 CA290778 rs_368890798

3 SubmittersRCV000124923RCV000390869
NM_014297.5(ETHE1):c.-45G>A SNV
Germline		 Chr19:43527222 Conflicting classifications of pathogenicity not specified
Ethylmalonic encephalopathy
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA290779 rs_144136377

4 SubmittersRCV000124924RCV000339697RCV003415931
NM_014297.5(ETHE1):c.596-2A>G SNV
Germline		 Chr19:43508062 Likely pathogenic Ethylmalonic encephalopathy Criteria Provided
Multiple Submitters
No Conflicts
 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

11 SubmittersRCV000276936
NM_014297.5(ETHE1):c.476G>A (p.Arg159His) SNV
Germline		 Chr19:43511466 Conflicting classifications of pathogenicity Condition: not provided
Ethylmalonic encephalopathy		 Criteria Provided
Conflicting Classifications
 CA323980 rs_768669208

3 SubmittersRCV000199428RCV000814742
NM_014297.5(ETHE1):c.278C>T (p.Ser93Phe) SNV
Germline		 Chr19:43526298 Conflicting classifications of pathogenicity Condition: not provided
Ethylmalonic encephalopathy
ETHE1-related disorder		 Criteria Provided
Conflicting Classifications
 CA320462 rs_199827754

9 SubmittersRCV000196062RCV000273437RCV003927839
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		 Criteria Provided
Conflicting Classifications
 CA321242 rs_138958351

7 SubmittersRCV000196829RCV000383149RCV000767331RCV002517209
NM_014297.5(ETHE1):c.9G>A (p.Glu3=) SNV
Germline		 Chr19:43527169 Conflicting classifications of pathogenicity Ethylmalonic encephalopathy Criteria Provided
Conflicting Classifications
 CA9487980 rs_773937760

3 SubmittersRCV000325164
NM_014297.5(ETHE1):c.376-5G>C SNV
Germline		 Chr19:43511571 Conflicting classifications of pathogenicity Ethylmalonic encephalopathy Criteria Provided
Conflicting Classifications
 CA10652050 rs_886054479

2 SubmittersRCV000355087
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

4 SubmittersRCV000501489RCV000523639
NM_014297.5(ETHE1):c.482G>A (p.Cys161Tyr) SNV
Germline		 Chr19:43511460 Likely pathogenic Ethylmalonic encephalopathy
Abnormality of the nervous system
Glutaric aciduria, type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA406175487 rs_1555762722

5 SubmittersRCV000503577RCV001814171RCV004526691
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

6 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

3 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
 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
 rs_749803238

4 SubmittersRCV000755051RCV001557377
NM_014297.5(ETHE1):c.2T>C (p.Met1Thr) SNV
Germline		 Chr19:43527176 Conflicting classifications of pathogenicity Ethylmalonic encephalopathy Criteria Provided
Conflicting Classifications
 rs_1470124674

3 SubmittersRCV000779260
NM_014297.5(ETHE1):c.295C>T (p.Gln99Ter) SNV
Germline		 Chr19:43526281 Pathogenic Ethylmalonic encephalopathy Criteria Provided
Single Submitter
 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
 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
 rs_1599982861

2 SubmittersRCV000996939RCV003497915
NM_014297.5(ETHE1):c.535C>T (p.His179Tyr) SNV
Germline		 Chr19:43508835 Conflicting classifications of pathogenicity Ethylmalonic encephalopathy Criteria Provided
Conflicting Classifications
 rs_370182416

2 SubmittersRCV001134310
NM_014297.5(ETHE1):c.79C>T (p.Gln27Ter) SNV
Germline		 Chr19:43527099 Pathogenic/Likely pathogenic Ethylmalonic encephalopathy Criteria Provided
Multiple Submitters
No Conflicts
 rs_749803238

2 SubmittersRCV001202525
NM_014297.5(ETHE1):c.43C>T (p.Gln15Ter) SNV
Germline		 Chr19:43527135 Pathogenic/Likely pathogenic Ethylmalonic encephalopathy Criteria Provided
Multiple Submitters
No Conflicts
 rs_2146021370

3 SubmittersRCV001385547
NM_014297.5(ETHE1):c.506-2A>G SNV
Germline		 Chr19:43508866 Likely pathogenic Ethylmalonic encephalopathy Criteria Provided
Multiple Submitters
No Conflicts
 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
 rs_863223954

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

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

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

1 SubmittersRCV003079234
NM_014297.5(ETHE1):c.81+1G>T SNV
Germline		 Chr19:43527096 Likely pathogenic Ethylmalonic encephalopathy Criteria Provided
Single Submitter

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

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

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

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

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

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

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

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

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

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

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

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

1 SubmittersRCV003602914