Total 33 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

6 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.154G>A (p.Ala52Thr) SNV
Germline		 Chr1:171103806 Pathogenic Trimethylaminuria No Assertion Criteria Provided
 CA257483 rs_72549321

1 SubmittersRCV000017700
NM_001002294.3(FMO3):c.458C>T (p.Pro153Leu) SNV
Germline		 Chr1:171107811 Conflicting classifications of pathogenicity Trimethylaminuria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA341395 rs_72549326

8 SubmittersRCV000017701RCV002223760
NM_001002294.3(FMO3):c.1474C>T (p.Arg492Trp) SNV
Germline		 Chr1:171117317 Likely pathogenic Trimethylaminuria
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA257484 rs_72549334

4 SubmittersRCV000017702RCV003574701
NM_001002294.3(FMO3):c.1160G>T (p.Arg387Leu) SNV
Germline		 Chr1:171114339 Likely pathogenic Trimethylaminuria
FMO3-related disorder		 Criteria Provided
Single Submitter
 CA257485 rs_72549331

2 SubmittersRCV000017704RCV003398530
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
Single Submitter
 CA341397 rs_72549322

3 SubmittersRCV000017706
NM_001002294.3(FMO3):c.1302G>A (p.Met434Ile) SNV
Germline		 Chr1:171117145 Conflicting classifications of pathogenicity Trimethylaminuria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA257488 rs_72549332

3 SubmittersRCV000017707RCV003556037
NM_001002294.3(FMO3):c.94G>A (p.Glu32Lys) SNV
Germline		 Chr1:171092752 Pathogenic Trimethylaminuria No Assertion Criteria Provided
 CA257489 rs_72549320

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

4 SubmittersRCV000490346RCV002515595RCV003993893
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.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.370C>T (p.Gln124Ter) SNV
Germline		 Chr1:171107723 Pathogenic/Likely pathogenic Trimethylaminuria
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1384237868

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

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

5 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
 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
 rs_376881697

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

5 SubmittersRCV001100090RCV003155360RCV002558009RCV003963044
NM_001002294.3(FMO3):c.613C>T (p.Arg205Cys) SNV
Germline		 Chr1:171108207 Conflicting classifications of pathogenicity Trimethylaminuria
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_28363549

3 SubmittersRCV001102085RCV003987784RCV003574822
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
 rs_373775407

2 SubmittersRCV001102087RCV003769072
NM_001002294.3(FMO3):c.713G>A (p.Arg238Gln) SNV
Germline		 Chr1:171110883 Conflicting classifications of pathogenicity Trimethylaminuria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 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		 Criteria Provided
Conflicting Classifications
 rs_2066532

3 SubmittersRCV001098408RCV002557993
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
 rs_535435928

2 SubmittersRCV001100182RCV003558666
NM_001002294.3(FMO3):c.667C>T (p.Arg223Trp) SNV
Germline		 Chr1:171110837 Likely pathogenic Trimethylaminuria Criteria Provided
Single Submitter
 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
 rs_559643079

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

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

1 SubmittersRCV003388358
NM_001002294.3(FMO3):c.828-2A>G SNV
Germline		 Chr1:171114005 Likely pathogenic Trimethylaminuria Criteria Provided
Single Submitter

1 SubmittersRCV003988783