Total 64 pathogenic variants reported for Deficiency of butyrylcholinesterase 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) SNV
Germline		 Chr3:165830741 Conflicting classifications of pathogenicity Postanesthetic apnea
Deficiency of butyrylcholinesterase
Condition: not provided
BCHE-related disorder		 Criteria Provided
Conflicting Classifications
 CA122963 rs_1799807

20 SubmittersRCV000014102RCV000277104RCV001092437RCV003415696
NM_000055.2(BCHE):c.812C>T (p.Thr271Met) SNV
Germline		 Chr3:165830222 Conflicting classifications of pathogenicity BCHE, flouride 1
Deficiency of butyrylcholinesterase
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA122965 rs_28933389

4 SubmittersRCV000014112RCV000779401RCV001753416
NM_000055.2(BCHE):c.1253G>T (p.Gly418Val) SNV
Germline		 Chr3:165829781 Conflicting classifications of pathogenicity BCHE, fluoride 2
Deficiency of butyrylcholinesterase
BCHE-related disorder		 Criteria Provided
Conflicting Classifications
 CA122966 rs_28933390

7 SubmittersRCV000014116RCV000360109RCV003914839
NM_000055.2(BCHE):c.1699G>A (p.Ala567Thr) SNV
Germline		 Chr3:165773492 Conflicting classifications of pathogenicity Butyrylcholinesterase activity
Deficiency of butyrylcholinesterase
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA122967 rs_1803274

4 SubmittersRCV000014120RCV000309118RCV002274899RCV001804729
NM_000055.4(BCHE):c.1072T>A (p.Leu358Ile) SNV
Germline		 Chr3:165829962 Pathogenic/Likely pathogenic Butyrylcholinesterase deficiency, fluoride-resistant, Japanese type
Deficiency of butyrylcholinesterase		 Criteria Provided
Multiple Submitters
No Conflicts
 CA122969 rs_121918557

4 SubmittersRCV000014130RCV000665725
NM_000055.4(BCHE):c.467A>G (p.Tyr156Cys) SNV
Germline		 Chr3:165830567 Pathogenic Deficiency of butyrylcholinesterase No Assertion Criteria Provided
 CA122970 rs_121918558

1 SubmittersRCV000014131
NM_000055.4(BCHE):c.1004T>C (p.Leu335Pro) SNV
Germline		 Chr3:165830030 Pathogenic/Likely pathogenic Deficiency of butyrylcholinesterase Criteria Provided
Multiple Submitters
No Conflicts
 CA122971 rs_104893684

5 SubmittersRCV000014132
NM_000055.4(BCHE):c.1177G>C (p.Gly393Arg) SNV
Germline		 Chr3:165829857 Pathogenic Deficiency of butyrylcholinesterase Criteria Provided
Multiple Submitters
No Conflicts
 CA2692359 rs_115129687

3 SubmittersRCV000490265
NM_000055.4(BCHE):c.884A>G (p.Lys295Arg) SNV
Germline		 Chr3:165830150 Conflicting classifications of pathogenicity Deficiency of butyrylcholinesterase
not specified		 Criteria Provided
Conflicting Classifications
 CA2692410 rs_115624085

3 SubmittersRCV000490369RCV002282044
NM_000055.4(BCHE):c.849G>C (p.Glu283Asp) SNV
Germline		 Chr3:165830185 Conflicting classifications of pathogenicity not specified
Deficiency of butyrylcholinesterase		 Criteria Provided
Conflicting Classifications
 CA2692418 rs_16849700

4 SubmittersRCV000251520RCV000666412
NM_000055.4(BCHE):c.1736A>G (p.Asn579Ser) SNV
Germline		 Chr3:165773455 Conflicting classifications of pathogenicity Deficiency of butyrylcholinesterase
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA2692198 rs_750175032

2 SubmittersRCV000404222RCV002520107
NM_000055.4(BCHE):c.1327A>C (p.Asn443His) SNV
Germline		 Chr3:165829707 Conflicting classifications of pathogenicity Deficiency of butyrylcholinesterase
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2692336 rs_144987429

2 SubmittersRCV000305441RCV000942318
NM_000055.4(BCHE):c.428G>A (p.Gly143Asp) SNV
Germline		 Chr3:165830606 Pathogenic/Likely pathogenic Deficiency of butyrylcholinesterase
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2692513 rs_201820739

7 SubmittersRCV000371428RCV003333978
NM_000055.4(BCHE):c.1518-6A>G SNV
Germline		 Chr3:165786317 Conflicting classifications of pathogenicity Deficiency of butyrylcholinesterase
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2692267 rs_142531034

2 SubmittersRCV000345200RCV000964253
NM_000055.4(BCHE):c.1685-2A>G SNV
Unknown		 Chr3:165773508 Likely pathogenic Deficiency of butyrylcholinesterase Criteria Provided
Single Submitter
 CA2692208 rs_779366544

1 SubmittersRCV000412448
NM_000055.4(BCHE):c.1684+1G>T SNV
Unknown		 Chr3:165786144 Likely pathogenic Deficiency of butyrylcholinesterase Criteria Provided
Single Submitter
 CA16040915 rs_1057516496

1 SubmittersRCV000410863
NM_000055.4(BCHE):c.1576C>T (p.Gln526Ter) SNV
Unknown		 Chr3:165786253 Likely pathogenic Deficiency of butyrylcholinesterase Criteria Provided
Single Submitter
 CA16040916 rs_1057517144

1 SubmittersRCV000411256
NM_000055.4(BCHE):c.1528G>T (p.Glu510Ter) SNV
Unknown		 Chr3:165786301 Likely pathogenic Deficiency of butyrylcholinesterase Criteria Provided
Single Submitter
 CA16040917 rs_1057516482

1 SubmittersRCV000409949
NM_000055.4(BCHE):c.1517+1G>T SNV
Unknown		 Chr3:165829516 Likely pathogenic Deficiency of butyrylcholinesterase Criteria Provided
Single Submitter
 CA16040918 rs_1057517218

1 SubmittersRCV000410375
NM_000055.4(BCHE):c.1284C>A (p.Cys428Ter) SNV
Unknown		 Chr3:165829750 Likely pathogenic Deficiency of butyrylcholinesterase Criteria Provided
Single Submitter
 CA16040919 rs_762341786

1 SubmittersRCV000409122
NM_000055.4(BCHE):c.1183G>T (p.Glu395Ter) SNV
Unknown		 Chr3:165829851 Likely pathogenic Deficiency of butyrylcholinesterase Criteria Provided
Single Submitter
 CA16040921 rs_1057517221

1 SubmittersRCV000409809
NM_000055.4(BCHE):c.1015C>T (p.Gln339Ter) SNV
Germline		 Chr3:165830019 Likely pathogenic Deficiency of butyrylcholinesterase Criteria Provided
Multiple Submitters
No Conflicts
 CA16040923 rs_1057517265

2 SubmittersRCV000412007
NM_000055.4(BCHE):c.895G>T (p.Glu299Ter) SNV
Unknown		 Chr3:165830139 Likely pathogenic Deficiency of butyrylcholinesterase Criteria Provided
Single Submitter
 CA2692408 rs_747196387

1 SubmittersRCV000409335
NM_000055.4(BCHE):c.757G>T (p.Gly253Ter) SNV
Unknown		 Chr3:165830277 Likely pathogenic Deficiency of butyrylcholinesterase Criteria Provided
Single Submitter
 CA2692436 rs_140080572

1 SubmittersRCV000411278
NM_000055.4(BCHE):c.635C>T (p.Ala212Val) SNV
Germline		 Chr3:165830399 Conflicting classifications of pathogenicity Deficiency of butyrylcholinesterase
not specified
Condition: not provided
See cases		 Criteria Provided
Conflicting Classifications
 CA2692459 rs_114706984

7 SubmittersRCV000412062RCV001844157RCV002244851RCV002252109
NM_000055.4(BCHE):c.619C>T (p.Gln207Ter) SNV
Unknown		 Chr3:165830415 Likely pathogenic Deficiency of butyrylcholinesterase Criteria Provided
Single Submitter
 CA16040924 rs_1057517208

1 SubmittersRCV000412077
NM_000055.4(BCHE):c.439C>T (p.Gln147Ter) SNV
Unknown		 Chr3:165830595 Likely pathogenic Deficiency of butyrylcholinesterase Criteria Provided
Single Submitter
 CA2692507 rs_760182781

1 SubmittersRCV000409468
NM_000055.4(BCHE):c.1627C>T (p.Arg543Cys) SNV
Germline		 Chr3:165786202 Conflicting classifications of pathogenicity Deficiency of butyrylcholinesterase
not specified		 Criteria Provided
Conflicting Classifications
 rs_199660374

2 SubmittersRCV000666625RCV002469241
NM_000055.4(BCHE):c.1497G>A (p.Trp499Ter) SNV
Unknown		 Chr3:165829537 Likely pathogenic Deficiency of butyrylcholinesterase Criteria Provided
Single Submitter
 rs_1553778017

1 SubmittersRCV000670753
NM_000055.4(BCHE):c.1240C>T (p.Arg414Cys) SNV
Germline		 Chr3:165829794 Pathogenic/Likely pathogenic Deficiency of butyrylcholinesterase
BCHE-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_745364489

3 SubmittersRCV000666275RCV003420176
NM_000055.4(BCHE):c.615G>A (p.Trp205Ter) SNV
Unknown		 Chr3:165830419 Likely pathogenic Deficiency of butyrylcholinesterase Criteria Provided
Single Submitter
 rs_568724445

1 SubmittersRCV000671697
NM_000055.4(BCHE):c.382C>T (p.Pro128Ser) SNV
Unknown		 Chr3:165830652 Likely pathogenic Deficiency of butyrylcholinesterase Criteria Provided
Single Submitter
 rs_3732880

1 SubmittersRCV000667827
NM_000055.4(BCHE):c.295C>T (p.Gln99Ter) SNV
Unknown		 Chr3:165830739 Likely pathogenic Deficiency of butyrylcholinesterase Criteria Provided
Single Submitter
 rs_990121358

1 SubmittersRCV000668197
NM_000055.4(BCHE):c.1584T>A (p.Tyr528Ter) SNV
Germline		 Chr3:165786245 Conflicting classifications of pathogenicity Deficiency of butyrylcholinesterase Criteria Provided
Conflicting Classifications
 rs_760485585

4 SubmittersRCV000671148
NM_000055.4(BCHE):c.1222C>T (p.Gln408Ter) SNV
Unknown		 Chr3:165829812 Likely pathogenic Deficiency of butyrylcholinesterase Criteria Provided
Single Submitter
 rs_1278095773

1 SubmittersRCV000667116
NM_000055.4(BCHE):c.1030C>T (p.Gln344Ter) SNV
Unknown		 Chr3:165830004 Likely pathogenic Deficiency of butyrylcholinesterase Criteria Provided
Single Submitter
 rs_1553778114

1 SubmittersRCV000666287
NM_000055.4(BCHE):c.44G>A (p.Trp15Ter) SNV
Unknown		 Chr3:165830990 Likely pathogenic Deficiency of butyrylcholinesterase Criteria Provided
Single Submitter
 rs_1553778291

1 SubmittersRCV000666225
NM_000055.4(BCHE):c.166T>A (p.Phe56Ile) SNV
Germline		 Chr3:165830868 Conflicting classifications of pathogenicity Deficiency of butyrylcholinesterase
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_531738678

4 SubmittersRCV000778687RCV002272349
NM_000055.4(BCHE):c.435T>A (p.Gly145=) SNV
Germline		 Chr3:165830599 Conflicting classifications of pathogenicity not specified
BCHE-related disorder
Deficiency of butyrylcholinesterase		 Criteria Provided
Conflicting Classifications
 rs_71534242

3 SubmittersRCV003387967RCV003963087RCV001147518
NM_000055.4(BCHE):c.1354C>T (p.Arg452Ter) SNV
Germline		 Chr3:165829680 Pathogenic Deficiency of butyrylcholinesterase Criteria Provided
Single Submitter
 rs_530517316

1 SubmittersRCV001781075
NM_000055.4(BCHE):c.1129G>T (p.Glu377Ter) SNV
Germline		 Chr3:165829905 Pathogenic Deficiency of butyrylcholinesterase Criteria Provided
Single Submitter
 rs_534912670

1 SubmittersRCV001781079
NM_000055.4(BCHE):c.594T>G (p.Asp198Glu) SNV
Germline		 Chr3:165830440 Likely pathogenic Deficiency of butyrylcholinesterase
BCHE-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_781368801

2 SubmittersRCV002223054RCV003408171
NM_000055.4(BCHE):c.777G>A (p.Trp259Ter) SNV
Germline		 Chr3:165830257 Pathogenic Deficiency of butyrylcholinesterase Criteria Provided
Single Submitter

1 SubmittersRCV003479791