Total 21 pathogenic variants reported for Dihydropyrimidinase deficiency 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001385.3(DPYS):c.1001A>G (p.Gln334Arg) SNV
Germline		 Chr8:104428071 Pathogenic Dihydropyrimidinase deficiency
Condition: not provided		 Criteria Provided
Single Submitter
 CA114022 rs_121964923

2 SubmittersRCV000000207RCV002512594
NM_001385.3(DPYS):c.1303G>A (p.Gly435Arg) SNV
Germline		 Chr8:104392924 Pathogenic Dihydropyrimidinase deficiency No Assertion Criteria Provided
 CA114023 rs_267606773

1 SubmittersRCV000000208
NM_001385.3(DPYS):c.1078T>C (p.Trp360Arg) SNV
Germline		 Chr8:104427994 Pathogenic/Likely pathogenic Dihydropyrimidinase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA114024 rs_121964924

4 SubmittersRCV000000209RCV001778643
NM_001385.3(DPYS):c.1235G>T (p.Arg412Met) SNV
Germline		 Chr8:104424247 Pathogenic Dihydropyrimidinase deficiency No Assertion Criteria Provided
 CA114025 rs_267606774

1 SubmittersRCV000000210
NM_001385.3(DPYS):c.264+5C>T SNV
Germline		 Chr8:104466652 Conflicting classifications of pathogenicity Condition: not provided
Dihydropyrimidinase deficiency		 Criteria Provided
Conflicting Classifications
 CA228223 rs_672601293

4 SubmittersRCV000086530RCV001159708
NM_001385.3(DPYS):c.1137C>A (p.Ser379Arg) SNV
Germline		 Chr8:104424345 Pathogenic/Likely pathogenic Condition: not provided
Dihydropyrimidinase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4838350 rs_201258823

7 SubmittersRCV000413409RCV000779549
NM_001385.3(DPYS):c.1423C>T (p.Arg475Ter) SNV
Germline		 Chr8:104392804 Pathogenic/Likely pathogenic Condition: not provided
Dihydropyrimidinase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4838287 rs_61758444

6 SubmittersRCV000514407RCV001783010
NM_001385.3(DPYS):c.905G>A (p.Arg302Gln) SNV
Germline		 Chr8:104429590 Likely pathogenic Dihydropyrimidinase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_200913682

4 SubmittersRCV000778155RCV002535629
NM_001385.3(DPYS):c.1393C>T (p.Arg465Ter) SNV
Germline		 Chr8:104392834 Pathogenic Condition: not provided
Dihydropyrimidinase deficiency		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_201280871

3 SubmittersRCV001069989RCV001330586
NM_001385.3(DPYS):c.1469G>A (p.Arg490His) SNV
Germline		 Chr8:104381289 Conflicting classifications of pathogenicity Dihydropyrimidinase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_189448963

4 SubmittersRCV001160988RCV001882508
NM_001385.3(DPYS):c.342C>T (p.Phe114=) SNV
Germline		 Chr8:104451327 Conflicting classifications of pathogenicity Dihydropyrimidinase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_538642538

2 SubmittersRCV001159706RCV002558503
NM_001385.3(DPYS):c.177C>G (p.Val59=) SNV
Germline		 Chr8:104466744 Conflicting classifications of pathogenicity Dihydropyrimidinase deficiency
Condition: not provided
DPYS-related disorder		 Criteria Provided
Conflicting Classifications
 rs_568135080

3 SubmittersRCV001159709RCV002070971RCV003928757
NM_001385.3(DPYS):c.264+10C>T SNV
Germline		 Chr8:104466647 Conflicting classifications of pathogenicity Dihydropyrimidinase deficiency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1013557835

2 SubmittersRCV001159707RCV002558504
NM_001385.3(DPYS):c.750G>A (p.Met250Ile) SNV
Germline		 Chr8:104444291 Pathogenic Dihydropyrimidinase deficiency No Assertion Criteria Provided
 rs_751371011

1 SubmittersRCV001248827
NM_001385.3(DPYS):c.175G>T (p.Val59Phe) SNV
Germline		 Chr8:104466746 Pathogenic Dihydropyrimidinase deficiency No Assertion Criteria Provided
 rs_1321466782

1 SubmittersRCV001248855
NM_001385.3(DPYS):c.1468C>T (p.Arg490Cys) SNV
Germline		 Chr8:104381290 Pathogenic/Likely pathogenic Dihydropyrimidinase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_142574766

3 SubmittersRCV001330587RCV003558809
NM_001385.3(DPYS):c.253C>T (p.Gln85Ter) SNV
Germline		 Chr8:104466668 Pathogenic/Likely pathogenic Inborn genetic diseases
Dihydropyrimidinase deficiency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002633039RCV003485818RCV002620828
NM_001385.3(DPYS):c.502T>C (p.Tyr168His) SNV
Germline		 Chr8:104447425 Pathogenic Dihydropyrimidinase deficiency No Assertion Criteria Provided

1 SubmittersRCV003480014
NM_001385.3(DPYS):c.1064G>A (p.Arg355Gln) SNV
Unknown		 Chr8:104428008 Likely pathogenic Dihydropyrimidinase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003486531
NM_001385.3(DPYS):c.983G>T (p.Cys328Phe) SNV
Unknown		 Chr8:104428089 Likely pathogenic Dihydropyrimidinase deficiency Criteria Provided
Single Submitter

1 SubmittersRCV003486540