Total 74 pathogenic variants reported for Trimethylaminuria 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001002294.3(FMO3):c.913G>T (p.Glu305Ter) SNV
Germline		 Chr1:171114092 Pathogenic Trimethylaminuria
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341392 rs_61753344

9 SubmittersRCV000017697RCV001036315
NM_001002294.3(FMO3):c.198G>T (p.Met66Ile) SNV
Germline		 Chr1:171103850 Likely pathogenic Trimethylaminuria Criteria Provided
Single Submitter
 CA257482 rs_72549323

2 SubmittersRCV000017699
NM_001002294.3(FMO3):c.458C>T (p.Pro153Leu) SNV
Germline		 Chr1:171107811 Pathogenic/Likely pathogenic Trimethylaminuria
Condition: not provided
FMO3-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341395 rs_72549326

10 SubmittersRCV000017701RCV002223760RCV004755741
NM_001002294.3(FMO3):c.1474C>T (p.Arg492Trp) SNV
Germline		 Chr1:171117317 Pathogenic/Likely pathogenic Trimethylaminuria
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA257484 rs_72549334

5 SubmittersRCV000017702RCV003574701
NM_001002294.3(FMO3):c.1160G>T (p.Arg387Leu) SNV
Germline		 Chr1:171114339 Conflicting classifications of pathogenicity Trimethylaminuria
not specified
FMO3-related disorder		 Criteria Provided
Conflicting Classifications
 CA257485 rs_72549331

3 SubmittersRCV000017704RCV005237387RCV003398530
NM_001002294.3(FMO3):c.940G>T (p.Glu314Ter) SNV
Germline		 Chr1:171114119 Pathogenic Trimethylaminuria No Assertion Criteria Provided
 CA257486 rs_72549330

1 SubmittersRCV000017705
NM_001002294.3(FMO3):c.182A>G (p.Asn61Ser) SNV
Germline		 Chr1:171103834 Likely pathogenic Trimethylaminuria Criteria Provided
Multiple Submitters
No Conflicts
 CA341397 rs_72549322

4 SubmittersRCV000017706
NM_001002294.3(FMO3):c.1302G>A (p.Met434Ile) SNV
Germline		 Chr1:171117145 Likely pathogenic Trimethylaminuria
Condition: not provided		 Criteria Provided
Single Submitter
 CA257488 rs_72549332

2 SubmittersRCV000017707RCV003556037
NM_001002294.3(FMO3):c.94G>A (p.Glu32Lys) SNV
Germline		 Chr1:171092752 Likely pathogenic Trimethylaminuria Criteria Provided
Single Submitter
 CA257489 rs_72549320

2 SubmittersRCV000017709
NM_001002294.3(FMO3):c.172G>A (p.Val58Ile) SNV
Germline		 Chr1:171103824 Conflicting classifications of pathogenicity Trimethylaminuria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1240480 rs_144935285

6 SubmittersRCV000490346RCV002515595
NM_001002294.3(FMO3):c.1204A>G (p.Met402Val) SNV
Germline		 Chr1:171116228 Conflicting classifications of pathogenicity Trimethylaminuria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1240770 rs_141117096

2 SubmittersRCV000307703RCV000911384
NM_001002294.3(FMO3):c.225C>T (p.Pro75=) SNV
Germline		 Chr1:171103877 Conflicting classifications of pathogenicity Trimethylaminuria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1240488 rs_141235954

2 SubmittersRCV000396110RCV003698755
NM_001002294.3(FMO3):c.-25G>A SNV
Germline		 Chr1:171090963 Conflicting classifications of pathogenicity Trimethylaminuria
Chronic lymphocytic leukemia/small lymphocytic lymphoma
Lymphoma
Nonpapillary renal cell carcinoma
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10608769 rs_11578281

3 SubmittersRCV000349537RCV005891519RCV005891518RCV005891517RCV005411401
NM_001002294.3(FMO3):c.245T>C (p.Met82Thr) SNV
Germline		 Chr1:171103897 Conflicting classifications of pathogenicity Trimethylaminuria Criteria Provided
Conflicting Classifications
 CA1240494 rs_72549324

2 SubmittersRCV000309833
NM_001002294.3(FMO3):c.1539T>C (p.His513=) SNV
Germline		 Chr1:171117382 Conflicting classifications of pathogenicity Trimethylaminuria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1240862 rs_771817026

2 SubmittersRCV000261570RCV003688836
NM_001002294.3(FMO3):c.628-6T>C SNV
Germline		 Chr1:171110792 Conflicting classifications of pathogenicity Trimethylaminuria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1240614 rs_369396459

2 SubmittersRCV000374206RCV000900317
NM_001002294.3(FMO3):c.859G>T (p.Glu287Ter) SNV
Germline		 Chr1:171114038 Pathogenic/Likely pathogenic Condition: not provided
Trimethylaminuria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16603456 rs_1057520649

2 SubmittersRCV000439141RCV005004152
NM_001002294.3(FMO3):c.1160G>A (p.Arg387His) SNV
Germline		 Chr1:171114339 Conflicting classifications of pathogenicity Condition: not provided
Trimethylaminuria
not specified		 Criteria Provided
Conflicting Classifications
 CA1240738 rs_72549331

3 SubmittersRCV000489148RCV005010405RCV005431703
NM_001002294.3(FMO3):c.370C>T (p.Gln124Ter) SNV
Germline		 Chr1:171107723 Pathogenic/Likely pathogenic Trimethylaminuria
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA343183126 rs_1384237868

4 SubmittersRCV000681472RCV001381492
NM_001002294.3(FMO3):c.442G>A (p.Gly148Arg) SNV
Germline		 Chr1:171107795 Likely pathogenic Trimethylaminuria No Assertion Criteria Provided
 CA1240538 rs_72549325

1 SubmittersRCV000681473
NM_001002294.3(FMO3):c.929C>T (p.Ser310Leu) SNV
Germline		 Chr1:171114108 Pathogenic/Likely pathogenic Trimethylaminuria
See cases
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1240699 rs_572292275

7 SubmittersRCV000778196RCV002252234RCV003558577
NM_001002294.3(FMO3):c.1530C>T (p.Phe510=) SNV
Germline		 Chr1:171117373 Conflicting classifications of pathogenicity Condition: not provided
Trimethylaminuria		 Criteria Provided
Conflicting Classifications
 CA1240861 rs_28363595

2 SubmittersRCV000886101RCV001100185
NM_001002294.3(FMO3):c.329T>C (p.Val110Ala) SNV
Germline		 Chr1:171107682 Conflicting classifications of pathogenicity Trimethylaminuria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1240515 rs_376881697

2 SubmittersRCV001100089RCV003727852
NM_001002294.3(FMO3):c.341A>G (p.Asn114Ser) SNV
Germline		 Chr1:171107694 Conflicting classifications of pathogenicity Trimethylaminuria
Condition: not provided
not specified
FMO3-related disorder
Malignant tumor of esophagus		 Criteria Provided
Conflicting Classifications
 CA1240517 rs_186763441

6 SubmittersRCV001100090RCV002558009RCV003155360RCV003963044RCV005913675
NM_001002294.3(FMO3):c.613C>T (p.Arg205Cys) SNV
Germline		 Chr1:171108207 Conflicting classifications of pathogenicity Trimethylaminuria
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA1240586 rs_28363549

3 SubmittersRCV001102085RCV003574822RCV003987784
NM_001002294.3(FMO3):c.660G>A (p.Val220=) SNV
Germline		 Chr1:171110830 Conflicting classifications of pathogenicity Trimethylaminuria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1240622 rs_373775407

2 SubmittersRCV001102087RCV003769072
NM_001002294.3(FMO3):c.684T>C (p.Gly228=) SNV
Germline		 Chr1:171110854 Conflicting classifications of pathogenicity Trimethylaminuria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA32547429 rs_934652609

2 SubmittersRCV001102088RCV005093485
NM_001002294.3(FMO3):c.713G>A (p.Arg238Gln) SNV
Germline		 Chr1:171110883 Pathogenic/Likely pathogenic Trimethylaminuria
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1240636 rs_748324481

2 SubmittersRCV001096673RCV003558661
NM_001002294.3(FMO3):c.1084G>C (p.Glu362Gln) SNV
Germline		 Chr1:171114263 Conflicting classifications of pathogenicity Trimethylaminuria
Condition: not provided
Colon adenocarcinoma		 Criteria Provided
Conflicting Classifications
 CA1240728 rs_2066532

5 SubmittersRCV001098408RCV002557993RCV005913666
NM_001002294.3(FMO3):c.1250G>A (p.Arg417His) SNV
Germline		 Chr1:171116274 Conflicting classifications of pathogenicity Trimethylaminuria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1240781 rs_200985584

3 SubmittersRCV001100181RCV004691364
NM_001002294.3(FMO3):c.1322T>C (p.Ile441Thr) SNV
Germline		 Chr1:171117165 Conflicting classifications of pathogenicity Trimethylaminuria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1240816 rs_535435928

2 SubmittersRCV001100182RCV003558666
NM_001002294.3(FMO3):c.132+13T>C SNV
Germline		 Chr1:171092803 Conflicting classifications of pathogenicity Trimethylaminuria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1240419 rs_371276117

2 SubmittersRCV001098307RCV005093473
NM_001002294.3(FMO3):c.667C>T (p.Arg223Trp) SNV
Germline		 Chr1:171110837 Likely pathogenic Trimethylaminuria Criteria Provided
Single Submitter
 CA1240624 rs_762600525

1 SubmittersRCV001775501
NM_001002294.3(FMO3):c.622G>T (p.Glu208Ter) SNV
Germline		 Chr1:171108216 Pathogenic Trimethylaminuria
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1240588 rs_559643079

4 SubmittersRCV001783302RCV003660902
NM_001002294.3(FMO3):c.584C>T (p.Ser195Leu) SNV
Germline		 Chr1:171108178 Likely pathogenic Trimethylaminuria Criteria Provided
Single Submitter
 CA1240578 rs_775749562

1 SubmittersRCV003230932
NM_001002294.3(FMO3):c.1408C>T (p.Gln470Ter) SNV
Germline		 Chr1:171117251 Pathogenic Trimethylaminuria Criteria Provided
Single Submitter
 CA343170483 rs_1656200306

1 SubmittersRCV003388358
NM_001002294.3(FMO3):c.712C>T (p.Arg238Ter) SNV
Germline		 Chr1:171110882 Pathogenic/Likely pathogenic Condition: not provided
Trimethylaminuria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA343186245 rs_893223321

2 SubmittersRCV003553660RCV005003662
NM_001002294.3(FMO3):c.1262G>T (p.Gly421Val) SNV
Germline		 Chr1:171117105 Likely pathogenic Condition: not provided
Trimethylaminuria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA32506463 rs_61757397

2 SubmittersRCV003562313RCV005003666
NM_001002294.3(FMO3):c.1498C>T (p.Arg500Ter) SNV
Germline		 Chr1:171117341 Pathogenic Condition: not provided
Trimethylaminuria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1240850 rs_765373503

2 SubmittersRCV003562314RCV005003667
NM_001002294.3(FMO3):c.484+2T>G SNV
Germline		 Chr1:171107839 Likely pathogenic Condition: not provided
Trimethylaminuria		 Criteria Provided
Multiple Submitters
No Conflicts
 CA343184275 rs_1185446006

2 SubmittersRCV003571104RCV005013048
NM_001002294.3(FMO3):c.828-2A>G SNV
Germline		 Chr1:171114005 Likely pathogenic Trimethylaminuria Criteria Provided
Multiple Submitters
No Conflicts
 CA343187340 rs_1557946006

2 SubmittersRCV003988783
NM_001002294.3(FMO3):c.560T>G (p.Val187Gly) SNV
Germline		 Chr1:171108154 Conflicting classifications of pathogenicity Inborn genetic diseases
Trimethylaminuria		 Criteria Provided
Conflicting Classifications
 CA1240575 rs_769983049

2 SubmittersRCV004389692RCV005003755
NM_001002294.3(FMO3):c.571G>T (p.Gly191Cys) SNV
Germline		 Chr1:171108165 Likely pathogenic Trimethylaminuria Criteria Provided
Multiple Submitters
No Conflicts
 rs_1655736013

2 SubmittersRCV004586302
NM_001002294.3(FMO3):c.419T>C (p.Phe140Ser) SNV
Germline		 Chr1:171107772 Likely pathogenic Trimethylaminuria Criteria Provided
Single Submitter

1 SubmittersRCV004766510
NM_001002294.3(FMO3):c.132+1G>A SNV
Germline		 Chr1:171092791 Likely pathogenic Trimethylaminuria Criteria Provided
Single Submitter

1 SubmittersRCV005004647
NM_001002294.3(FMO3):c.262C>T (p.Gln88Ter) SNV
Germline		 Chr1:171103914 Likely pathogenic Trimethylaminuria Criteria Provided
Single Submitter

1 SubmittersRCV005004652
NM_001002294.3(FMO3):c.375G>A (p.Trp125Ter) SNV
Germline		 Chr1:171107728 Likely pathogenic Trimethylaminuria Criteria Provided
Single Submitter

1 SubmittersRCV005004654
NM_001002294.3(FMO3):c.768C>A (p.Tyr256Ter) SNV
Germline		 Chr1:171110938 Likely pathogenic Trimethylaminuria Criteria Provided
Single Submitter

1 SubmittersRCV005004676
NM_001002294.3(FMO3):c.828-2A>T SNV
Germline		 Chr1:171114005 Likely pathogenic Trimethylaminuria Criteria Provided
Single Submitter

1 SubmittersRCV005004681
NM_001002294.3(FMO3):c.841G>T (p.Glu281Ter) SNV
Germline		 Chr1:171114020 Likely pathogenic Trimethylaminuria Criteria Provided
Single Submitter

1 SubmittersRCV005006691
NM_001002294.3(FMO3):c.1159C>G (p.Arg387Gly) SNV
Germline		 Chr1:171114338 Likely pathogenic Trimethylaminuria Criteria Provided
Single Submitter

1 SubmittersRCV005004690
NM_001002294.3(FMO3):c.1159C>T (p.Arg387Cys) SNV
Germline		 Chr1:171114338 Likely pathogenic Trimethylaminuria Criteria Provided
Single Submitter

1 SubmittersRCV005006699
NM_001002294.3(FMO3):c.1164G>A (p.Trp388Ter) SNV
Germline		 Chr1:171114343 Likely pathogenic Trimethylaminuria Criteria Provided
Single Submitter

1 SubmittersRCV005004693
NM_001002294.3(FMO3):c.1256G>A (p.Trp419Ter) SNV
Germline		 Chr1:171116280 Likely pathogenic Trimethylaminuria Criteria Provided
Single Submitter

1 SubmittersRCV005006708
NM_001002294.3(FMO3):c.1306G>T (p.Glu436Ter) SNV
Germline		 Chr1:171117149 Likely pathogenic Trimethylaminuria Criteria Provided
Single Submitter

1 SubmittersRCV005006718
NM_001002294.3(FMO3):c.989G>A (p.Gly330Glu) SNV
Germline		 Chr1:171114168 Likely pathogenic Trimethylaminuria Criteria Provided
Single Submitter

1 SubmittersRCV005360490
NM_001002294.3(FMO3):c.3G>A (p.Met1Ile) SNV
Unknown		 Chr1:171092661 Likely pathogenic Trimethylaminuria Criteria Provided
Single Submitter

1 SubmittersRCV005637692