Total 24 pathogenic variants reported for Deficiency of cytochrome-b5 reductase 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000398.7(CYB5R3):c.464-2A>C SNV
Germline		 Chr22:42627690 Pathogenic/Likely pathogenic METHEMOGLOBINEMIA, TYPE II
Deficiency of cytochrome-b5 reductase
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA212736 rs_794728013

6 SubmittersRCV000000269RCV000986216RCV001390260
NM_000398.7(CYB5R3):c.478C>T (p.Arg160Ter) SNV
Germline		 Chr22:42627674 Pathogenic METHEMOGLOBINEMIA, TYPE II
Condition: not provided
Deficiency of cytochrome-b5 reductase		 Criteria Provided
Multiple Submitters
No Conflicts
 CA114086 rs_61732609

4 SubmittersRCV000000272RCV000578723RCV003485516
NM_000398.7(CYB5R3):c.875G>A (p.Gly292Asp) SNV
Germline		 Chr22:42619804 Pathogenic/Likely pathogenic METHEMOGLOBINEMIA, TYPE I
Condition: not provided
Deficiency of cytochrome-b5 reductase		 Criteria Provided
Multiple Submitters
No Conflicts
 CA114089 rs_121965016

5 SubmittersRCV000000274RCV002267795RCV003330378
NM_000398.7(CYB5R3):c.719A>G (p.Asp240Gly) SNV
Germline		 Chr22:42623803 Conflicting classifications of pathogenicity METHEMOGLOBINEMIA, TYPE I
Deficiency of cytochrome-b5 reductase
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA114096 rs_121965018

4 SubmittersRCV000000276RCV002490285RCV004791183
NM_000398.7(CYB5R3):c.250C>T (p.Arg84Ter) SNV
Germline		 Chr22:42630965 Pathogenic Condition: not provided
Deficiency of cytochrome-b5 reductase		 Criteria Provided
Multiple Submitters
No Conflicts
 CA411800624 rs_1210302322

4 SubmittersRCV000498827RCV006458427
NM_000398.7(CYB5R3):c.757G>A (p.Val253Met) SNV
Germline		 Chr22:42619922 Pathogenic/Likely pathogenic Hereditary methemoglobinemia
Condition: not provided
Deficiency of cytochrome-b5 reductase
Central core myopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10269583 rs_144071404

10 SubmittersRCV000601950RCV001811091RCV002498895RCV004813125
NM_000398.7(CYB5R3):c.463+8G>A SNV
Germline		 Chr22:42628144 Conflicting classifications of pathogenicity Condition: not provided
Deficiency of cytochrome-b5 reductase		 Criteria Provided
Conflicting Classifications
 CA10269755 rs_200872504

3 SubmittersRCV000912162RCV005630846
NM_000398.7(CYB5R3):c.226+2T>C SNV
Unknown		 Chr22:42631376 Pathogenic Deficiency of cytochrome-b5 reductase Criteria Provided
Single Submitter
 CA411800712 rs_1601938489

1 SubmittersRCV000986217
NM_000398.7(CYB5R3):c.806C>T (p.Pro269Leu) SNV
Germline		 Chr22:42619873 Conflicting classifications of pathogenicity Deficiency of cytochrome-b5 reductase
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10269572 rs_754251915

3 SubmittersRCV001270756RCV002541655
NM_000398.7(CYB5R3):c.226G>A (p.Gly76Ser) SNV
Germline		 Chr22:42631378 Pathogenic Deficiency of cytochrome-b5 reductase Criteria Provided
Single Submitter
 rs_1223829978

1 SubmittersRCV006258073
NM_000398.7(CYB5R3):c.574C>T (p.Arg192Cys) SNV
Germline		 Chr22:42627363 Pathogenic/Likely pathogenic Deficiency of cytochrome-b5 reductase
CYB5R3-related disorder
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10269654 rs_543277216

6 SubmittersRCV001780904RCV003394253RCV003546714
NM_000398.7(CYB5R3):c.547+1G>A SNV
Germline		 Chr22:42627604 Likely pathogenic Condition: not provided
Deficiency of cytochrome-b5 reductase		 Criteria Provided
Multiple Submitters
No Conflicts
 CA411797909 rs_1161477501

3 SubmittersRCV002010977RCV003485758
NM_000398.7(CYB5R3):c.637G>A (p.Glu213Lys) SNV
Germline		 Chr22:42623885 Conflicting classifications of pathogenicity Condition: not provided
Deficiency of cytochrome-b5 reductase		 Criteria Provided
Conflicting Classifications
 CA10269616 rs_61745147

4 SubmittersRCV002162980RCV003485764
NM_000398.7(CYB5R3):c.708G>A (p.Trp236Ter) SNV
Germline		 Chr22:42623814 Pathogenic Deficiency of cytochrome-b5 reductase
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10269609 rs_763259379

2 SubmittersRCV002262175RCV005095926
NM_000398.7(CYB5R3):c.274C>T (p.Arg92Trp) SNV
Germline		 Chr22:42630941 Likely pathogenic Deficiency of cytochrome-b5 reductase Criteria Provided
Single Submitter
 CA411800524 rs_1454054574

1 SubmittersRCV003128217
NM_000398.7(CYB5R3):c.149G>A (p.Arg50Gln) SNV
Germline		 Chr22:42636719 Conflicting classifications of pathogenicity Deficiency of cytochrome-b5 reductase
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10269898 rs_200877999

2 SubmittersRCV003145961RCV003561188
NM_000398.7(CYB5R3):c.182G>A (p.Arg61His) SNV
Germline		 Chr22:42631422 Conflicting classifications of pathogenicity Deficiency of cytochrome-b5 reductase
Central core myopathy		 Criteria Provided
Conflicting Classifications
 CA324703519 rs_774242947

3 SubmittersRCV003145963RCV004813221
NM_000398.7(CYB5R3):c.472G>A (p.Ala158Thr) SNV
Germline		 Chr22:42627680 Conflicting classifications of pathogenicity Deficiency of cytochrome-b5 reductase
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10269725 rs_75478217

4 SubmittersRCV003486054RCV004810012
NM_000398.7(CYB5R3):c.431G>T (p.Gly144Val) SNV
Germline		 Chr22:42628184 Conflicting classifications of pathogenicity Deficiency of cytochrome-b5 reductase
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005882480RCV006278331
NM_000398.7(CYB5R3):c.173G>C (p.Arg58Pro) SNV
Germline		 Chr22:42631431 Pathogenic Deficiency of cytochrome-b5 reductase
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006258074RCV006475363