Total 62 pathogenic variants reported for Pyruvate kinase deficiency of red cells 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000298.6(PKLR):c.1151C>T (p.Thr384Met) SNV
Germline		 Chr1:155293556 Pathogenic Pyruvate kinase deficiency of red cells No Assertion Criteria Provided
 CA215075 rs_74315362

1 SubmittersRCV000001572
NM_000298.6(PKLR):c.1261C>A (p.Gln421Lys) SNV
Germline		 Chr1:155293446 Pathogenic Pyruvate kinase deficiency of red cells No Assertion Criteria Provided
 CA215077 rs_118204084

1 SubmittersRCV000001573
NM_000298.6(PKLR):c.1436G>A (p.Arg479His) SNV
Germline		 Chr1:155293177 Pathogenic Pyruvate kinase deficiency of red cells
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA215078 rs_118204085

6 SubmittersRCV000001574RCV001781165
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln) SNV
Germline		 Chr1:155291845 Pathogenic Pyruvate kinase deficiency of red cells
Condition: not provided
PKLR-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA215079 rs_113403872

17 SubmittersRCV000001575RCV000224660RCV003421893
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) SNV
Germline		 Chr1:155291918 Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells
Condition: not provided
Pyruvate kinase deficiency of red cells
Pyruvate kinase hyperactivity
Pyruvate kinase hyperactivity
See cases
PKLR-related disorder		 Criteria Provided
Conflicting Classifications
 CA215080 rs_116100695

25 SubmittersRCV000001577RCV000724015RCV000762857RCV000991156RCV002251854RCV004751189
NM_000298.6(PKLR):c.389C>A (p.Ser130Tyr) SNV
Germline		 Chr1:155295555 Pathogenic Pyruvate kinase deficiency of red cells No Assertion Criteria Provided
 CA215081 rs_118204089

1 SubmittersRCV000001578
NC_000001.11:g.155301478C>G SNV
Germline		 Chr1:155301478 Pathogenic Pyruvate kinase deficiency of red cells No Assertion Criteria Provided
 rs_2148221101

1 SubmittersRCV000001579
NM_000298.6(PKLR):c.1318G>T (p.Glu440Ter) SNV
Germline		 Chr1:155293295 Pathogenic Pyruvate kinase deficiency of red cells
Condition: not provided		 Criteria Provided
Single Submitter
 rs_771145576

2 SubmittersRCV000001580RCV001851554
NM_000298.6(PKLR):c.1269G>A (p.Ala423=) SNV
Germline		 Chr1:155293438 Pathogenic/Likely pathogenic Pyruvate kinase deficiency of red cells
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_774652817

3 SubmittersRCV000001581RCV002512654
NM_000298.6(PKLR):c.1379T>C (p.Val460Ala) SNV
Germline		 Chr1:155293234 Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells
Condition: not provided
Pyruvate kinase hyperactivity
Pyruvate kinase deficiency of red cells		 Criteria Provided
Conflicting Classifications
 CA1144023 rs_149946271

4 SubmittersRCV000490506RCV001507460RCV002478762
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) SNV
Germline		 Chr1:155291858 Conflicting classifications of pathogenicity Condition: not provided
Pyruvate kinase hyperactivity
Pyruvate kinase deficiency of red cells
Pyruvate kinase deficiency of red cells
PKLR-related disorder		 Criteria Provided
Conflicting Classifications
 CA1143975 rs_8177988

11 SubmittersRCV000224042RCV000764981RCV001095923RCV003929928
NM_000298.6(PKLR):c.721G>T (p.Glu241Ter) SNV
Germline		 Chr1:155294726 Pathogenic Pyruvate kinase deficiency of red cells
Condition: not provided
Pyruvate kinase hyperactivity
Pyruvate kinase deficiency of red cells		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1144229 rs_201953584

7 SubmittersRCV000261579RCV000295664RCV000762858
NM_000298.6(PKLR):c.1365C>T (p.Thr455=) SNV
Germline		 Chr1:155293248 Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells
Condition: not provided
PKLR-related disorder		 Criteria Provided
Conflicting Classifications
 CA1144026 rs_146708702

4 SubmittersRCV000364066RCV002261030RCV003967820
NM_000298.6(PKLR):c.111G>T (p.Gly37=) SNV
Germline		 Chr1:155300270 Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1144446 rs_141341788

2 SubmittersRCV000348200RCV003736691
NM_000298.6(PKLR):c.965+12G>A SNV
Germline		 Chr1:155294470 Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1144165 rs_200039500

2 SubmittersRCV000333362RCV003765703
NM_000298.6(PKLR):c.790C>T (p.Leu264=) SNV
Germline		 Chr1:155294657 Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1144211 rs_199959447

3 SubmittersRCV000329780RCV003718148
NM_000298.6(PKLR):c.6G>A (p.Ser2=) SNV
Germline		 Chr1:155301390 Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1144515 rs_139697646

2 SubmittersRCV000405950RCV003556309
NM_000298.6(PKLR):c.1463G>A (p.Arg488Gln) SNV
Germline		 Chr1:155291911 Conflicting classifications of pathogenicity not specified
Condition: not provided
Pyruvate kinase deficiency of red cells		 Criteria Provided
Conflicting Classifications
 CA1143990 rs_369183199

3 SubmittersRCV000508434RCV003133292RCV004554794
NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp) SNV
Germline		 Chr1:155291760 Conflicting classifications of pathogenicity Condition: not provided
Pyruvate kinase deficiency of red cells
Pyruvate kinase hyperactivity		 Criteria Provided
Conflicting Classifications
 CA1143959 rs_201217064

5 SubmittersRCV000522980RCV000764980
NM_000298.6(PKLR):c.331G>A (p.Gly111Arg) SNV
Germline		 Chr1:155295709 Pathogenic/Likely pathogenic Pyruvate kinase deficiency of red cells
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA30904892 rs_918627824

3 SubmittersRCV000625798RCV003488737
NM_000298.6(PKLR):c.1511G>A (p.Arg504His) SNV
Germline		 Chr1:155291863 Likely pathogenic Pyruvate kinase deficiency of red cells Criteria Provided
Single Submitter
 rs_185753709

1 SubmittersRCV000714615
NM_000298.6(PKLR):c.1067T>G (p.Met356Arg) SNV
Germline		 Chr1:155294284 Likely pathogenic Pyruvate kinase deficiency of red cells No Assertion Criteria Provided
 rs_752423472

1 SubmittersRCV000768418
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys) SNV
Germline		 Chr1:155294618 Conflicting classifications of pathogenicity Condition: not provided
Pyruvate kinase deficiency of red cells
PKLR-related disorder		 Criteria Provided
Conflicting Classifications
 rs_147689373

7 SubmittersRCV000946502RCV001097711RCV003970661
NM_000298.6(PKLR):c.1269+43T>C SNV
Germline		 Chr1:155293395 Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_8177982

4 SubmittersRCV000986426RCV001811555
NM_000298.6(PKLR):c.1082A>C (p.Asn361Thr) SNV
Germline		 Chr1:155294269 Conflicting classifications of pathogenicity Condition: not provided
Pyruvate kinase deficiency of red cells		 Criteria Provided
Conflicting Classifications
 rs_1358047518

4 SubmittersRCV001811621RCV001007616
NM_000298.6(PKLR):c.972T>C (p.Asp324=) SNV
Germline		 Chr1:155294379 Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells
PKLR-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_8177974

3 SubmittersRCV001097708RCV003906186RCV003546616
NM_000298.6(PKLR):c.805G>T (p.Val269Phe) SNV
Germline		 Chr1:155294642 Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_200695047

3 SubmittersRCV001099488RCV002556015
NM_000298.6(PKLR):c.92C>T (p.Ala31Val) SNV
Germline		 Chr1:155301304 Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_150077703

4 SubmittersRCV001096025RCV001508890
NM_000298.6(PKLR):c.507+14C>A SNV
Germline		 Chr1:155295423 Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_201156800

3 SubmittersRCV001099490RCV002558003
NM_000298.6(PKLR):c.376-11C>G SNV
Germline		 Chr1:155295579 Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_1647538523

2 SubmittersRCV001101481RCV003117752
NM_000298.6(PKLR):c.1594C>T (p.Arg532Trp) SNV
Germline		 Chr1:155291780 Pathogenic Pyruvate kinase deficiency of red cells
Condition: not provided
PKLR-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_201255024

5 SubmittersRCV001262945RCV003135903RCV003405471
NM_000298.6(PKLR):c.1591C>A (p.Arg531Ser) SNV
Germline		 Chr1:155291783 Likely pathogenic Pyruvate kinase deficiency of red cells Criteria Provided
Single Submitter
 rs_1674554041

1 SubmittersRCV001534615
NM_000298.6(PKLR):c.814C>G (p.Leu272Val) SNV
Germline		 Chr1:155294633 Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_147659527

5 SubmittersRCV001334373RCV001812322
NM_000298.6(PKLR):c.1373G>A (p.Gly458Asp) SNV
Germline		 Chr1:155293240 Conflicting classifications of pathogenicity Condition: not provided
Pyruvate kinase deficiency of red cells		 Criteria Provided
Conflicting Classifications
 rs_755522396

4 SubmittersRCV001507461RCV001729927
NM_000298.6(PKLR):c.1178A>G (p.Asn393Ser) SNV
Germline		 Chr1:155293529 Pathogenic/Likely pathogenic Condition: not provided
Pyruvate kinase deficiency of red cells
Pyruvate kinase hyperactivity		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_776594413

5 SubmittersRCV001546580RCV002250766RCV002246424
NM_000298.6(PKLR):c.224T>C (p.Leu75Pro) SNV
Unknown		 Chr1:155300157 Likely pathogenic Pyruvate kinase deficiency of red cells Criteria Provided
Single Submitter
 rs_2148218886

1 SubmittersRCV001729977
NM_000298.6(PKLR):c.1015G>A (p.Asp339Asn) SNV
Germline		 Chr1:155294336 Conflicting classifications of pathogenicity Condition: not provided
Pyruvate kinase deficiency of red cells		 Criteria Provided
Conflicting Classifications
 rs_747097960

3 SubmittersRCV002019914RCV002250798
NM_000298.6(PKLR):c.1277G>A (p.Arg426Gln) SNV
Germline		 Chr1:155293336 Conflicting classifications of pathogenicity Condition: not provided
Pyruvate kinase deficiency of red cells
PKLR-related disorder		 Criteria Provided
Conflicting Classifications
 rs_768002493

4 SubmittersRCV002211108RCV003318511RCV004750715
NM_000298.6(PKLR):c.808C>T (p.Arg270Ter) SNV
Germline		 Chr1:155294639 Pathogenic Pyruvate kinase deficiency of red cells
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002283698RCV003138152
NM_000298.6(PKLR):c.1511G>T (p.Arg504Leu) SNV
Germline		 Chr1:155291863 Likely pathogenic Pyruvate kinase deficiency of red cells Criteria Provided
Single Submitter

1 SubmittersRCV003140500
NM_000298.6(PKLR):c.1618+1G>A SNV
Germline		 Chr1:155291755 Likely pathogenic Condition: not provided
Pyruvate kinase deficiency of red cells		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003135736RCV004786875
NM_000298.6(PKLR):c.1022G>C (p.Gly341Ala) SNV
Germline		 Chr1:155294329 Pathogenic/Likely pathogenic Condition: not provided
Pyruvate kinase deficiency of red cells		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003137033RCV003447647
NM_000298.6(PKLR):c.829G>T (p.Glu277Ter) SNV
Unknown		 Chr1:155294618 Likely pathogenic Pyruvate kinase deficiency of red cells Criteria Provided
Single Submitter

1 SubmittersRCV003323341
NM_000298.6(PKLR):c.1076G>C (p.Arg359Pro) SNV
Germline		 Chr1:155294275 Likely pathogenic Pyruvate kinase deficiency of red cells No Assertion Criteria Provided

1 SubmittersRCV003388232
NM_000298.6(PKLR):c.1510C>T (p.Arg504Cys) SNV
Germline		 Chr1:155291864 Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells
Condition: not provided		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV003444400RCV003488799
NM_000298.6(PKLR):c.823G>C (p.Gly275Arg) SNV
Germline		 Chr1:155294624 Likely pathogenic Pyruvate kinase deficiency of red cells Criteria Provided
Single Submitter

1 SubmittersRCV003447748
NM_000298.6(PKLR):c.754G>A (p.Val252Met) SNV
Germline		 Chr1:155294693 Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003479548RCV004364824
NM_000298.6(PKLR):c.68T>G (p.Leu23Ter) SNV
Germline		 Chr1:155301328 Likely pathogenic Pyruvate kinase deficiency of red cells Criteria Provided
Single Submitter

1 SubmittersRCV003990643
NM_000298.6(PKLR):c.1411A>T (p.Ile471Phe) SNV
Germline		 Chr1:155293202 Likely pathogenic Pyruvate kinase deficiency of red cells Criteria Provided
Single Submitter

1 SubmittersRCV003989411
NM_000298.6(PKLR):c.914G>A (p.Gly305Glu) SNV
Germline		 Chr1:155294533 Likely pathogenic Pyruvate kinase deficiency of red cells Criteria Provided
Single Submitter

1 SubmittersRCV003991808
NM_000298.6(PKLR):c.1417G>A (p.Val473Met) SNV
Germline		 Chr1:155293196 Likely pathogenic Pyruvate kinase deficiency of red cells Criteria Provided
Single Submitter

1 SubmittersRCV004759357
NM_000298.6(PKLR):c.695-1G>A SNV
Germline		 Chr1:155294753 Pathogenic Pyruvate kinase deficiency of red cells Criteria Provided
Single Submitter

1 SubmittersRCV004555149
NM_000298.6(PKLR):c.1461C>A (p.Tyr487Ter) SNV
Germline		 Chr1:155291913 Likely pathogenic Pyruvate kinase deficiency of red cells Criteria Provided
Single Submitter

1 SubmittersRCV004698746
NM_000298.6(PKLR):c.603G>A (p.Trp201Ter) SNV
Germline		 Chr1:155295207 Pathogenic Pyruvate kinase deficiency of red cells Criteria Provided
Single Submitter

1 SubmittersRCV004720644
NM_000298.6(PKLR):c.1492C>A (p.Arg498Ser) SNV
Germline		 Chr1:155291882 Likely pathogenic Pyruvate kinase deficiency of red cells Criteria Provided
Single Submitter

1 SubmittersRCV004720645
NM_000298.6(PKLR):c.958G>A (p.Val320Met) SNV
Germline		 Chr1:155294489 Likely pathogenic Pyruvate kinase deficiency of red cells Criteria Provided
Single Submitter

1 SubmittersRCV004771709
NM_000298.6(PKLR):c.965+1G>A SNV
Germline		 Chr1:155294481 Likely pathogenic Pyruvate kinase deficiency of red cells
Pyruvate kinase hyperactivity		 Criteria Provided
Single Submitter

1 SubmittersRCV004797470