Total 52 pathogenic variants reported for Pyridoxal phosphate-responsive seizures 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_018129.4(PNPO):c.685C>T (p.Arg229Trp) SNV
Germline		 Chr17:47946681 Pathogenic/Likely pathogenic Pyridoxal phosphate-responsive seizures
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA118329 rs_104894629

3 SubmittersRCV000006896RCV003231091
NM_018129.4(PNPO):c.364-1G>A SNV
Germline		 Chr17:47945558 Pathogenic Pyridoxal phosphate-responsive seizures Criteria Provided
Multiple Submitters
No Conflicts
 CA354156 rs_774710082

3 SubmittersRCV000006897
NM_018129.4(PNPO):c.784T>C (p.Ter262Gln) SNV
Germline		 Chr17:47946780 Pathogenic Pyridoxal phosphate-responsive seizures Criteria Provided
Single Submitter
 CA118330 rs_104894631

2 SubmittersRCV000006898
NM_018129.4(PNPO):c.520C>T (p.Gln174Ter) SNV
Germline		 Chr17:47945963 Pathogenic Pyridoxal phosphate-responsive seizures No Assertion Criteria Provided
 CA118332 rs_267606958

1 SubmittersRCV000006899
NM_018129.4(PNPO):c.500T>C (p.Ile167Thr) SNV
Germline		 Chr17:47945943 Conflicting classifications of pathogenicity Pyridoxal phosphate-responsive seizures
Inborn genetic diseases
Condition: not provided
PNPO-related disorder		 Criteria Provided
Conflicting Classifications
 CA292813 rs_546737191

6 SubmittersRCV000644625RCV002336278RCV004812302RCV004532528
NM_018129.4(PNPO):c.723C>G (p.Ser241=) SNV
Germline		 Chr17:47946719 Conflicting classifications of pathogenicity not specified
Pyridoxal phosphate-responsive seizures
Condition: not provided
PNPO-related disorder		 Criteria Provided
Conflicting Classifications
 CA232557 rs_144362146

4 SubmittersRCV000186649RCV001083205RCV000724341RCV004544281
NM_018129.4(PNPO):c.2T>C (p.Met1Thr) SNV
Germline		 Chr17:47941677 Conflicting classifications of pathogenicity Condition: not provided
Pyridoxal phosphate-responsive seizures		 Criteria Provided
Conflicting Classifications
 CA316576 rs_796052870

3 SubmittersRCV000188504RCV002514031
NM_018129.4(PNPO):c.98A>T (p.Asp33Val) SNV
Germline		 Chr17:47941773 Pathogenic Condition: not provided
Pyridoxal phosphate-responsive seizures
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA316580 rs_370243877

10 SubmittersRCV000188506RCV000697945RCV002381636
NM_018129.4(PNPO):c.481C>T (p.Arg161Cys) SNV
Germline		 Chr17:47945924 Pathogenic/Likely pathogenic Condition: not provided
Pyridoxal phosphate-responsive seizures		 Criteria Provided
Multiple Submitters
No Conflicts
 CA316557 rs_146027425

5 SubmittersRCV000188494RCV001824130
NM_018129.4(PNPO):c.544G>A (p.Glu182Lys) SNV
Germline		 Chr17:47945987 Conflicting classifications of pathogenicity Condition: not provided
Pyridoxal phosphate-responsive seizures		 Criteria Provided
Conflicting Classifications
 CA316582 rs_138727329

3 SubmittersRCV000188507RCV000537518
NM_018129.4(PNPO):c.547-2A>T SNV
Germline		 Chr17:47946321 Likely pathogenic Pyridoxal phosphate-responsive seizures Criteria Provided
Single Submitter
 CA316563 rs_796052869

1 SubmittersRCV001966417
NM_018129.4(PNPO):c.673C>T (p.Arg225Cys) SNV
Germline		 Chr17:47946669 Pathogenic/Likely pathogenic Condition: not provided
Pyridoxal phosphate-responsive seizures
PNPO-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA316564 rs_769266169

7 SubmittersRCV000188498RCV000850584RCV004537581
NM_018129.4(PNPO):c.674G>T (p.Arg225Leu) SNV
Germline		 Chr17:47946670 Pathogenic Condition: not provided
Pyridoxal phosphate-responsive seizures		 Criteria Provided
Multiple Submitters
No Conflicts
 CA316566 rs_550423482

3 SubmittersRCV000188499RCV003507262
NM_018129.4(PNPO):c.686G>A (p.Arg229Gln) SNV
Germline		 Chr17:47946682 Pathogenic/Likely pathogenic Condition: not provided
Pyridoxal phosphate-responsive seizures
PNPO-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA316568 rs_773450573

13 SubmittersRCV000188500RCV000208780RCV004539748
NM_018129.4(PNPO):c.700C>T (p.Arg234Trp) SNV
Germline		 Chr17:47946696 Conflicting classifications of pathogenicity Condition: not provided
Pyridoxal phosphate-responsive seizures
not specified		 Criteria Provided
Conflicting Classifications
 CA316572 rs_368943864

3 SubmittersRCV000188502RCV001241692RCV004700572
NM_018129.4(PNPO):c.674G>A (p.Arg225His) SNV
Germline		 Chr17:47946670 Pathogenic Growth delay
Fetal growth restriction
Seizure
Pyridoxal phosphate-responsive seizures
Neuronopathy, distal hereditary motor, type 5A
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA354181 rs_550423482

10 SubmittersRCV000414812RCV000208779RCV000825022RCV001090956
NM_018129.4(PNPO):c.139-4C>G SNV
Germline		 Chr17:47943302 Conflicting classifications of pathogenicity not specified
Pyridoxal phosphate-responsive seizures
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8629115 rs_766668907

3 SubmittersRCV000251975RCV001439801RCV002317786
NM_018129.4(PNPO):c.399G>A (p.Trp133Ter) SNV
Germline		 Chr17:47945594 Pathogenic/Likely pathogenic Condition: not provided
Pyridoxal phosphate-responsive seizures
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8629173 rs_766311956

3 SubmittersRCV000439228RCV005090862RCV002374714
NM_018129.4(PNPO):c.547-17C>G SNV
Germline		 Chr17:47946306 Conflicting classifications of pathogenicity not specified
Pyridoxal phosphate-responsive seizures		 Criteria Provided
Conflicting Classifications
 CA8629236 rs_750566159

2 SubmittersRCV000435481RCV001865380
NM_018129.4(PNPO):c.264-2A>G SNV
Germline		 Chr17:47944614 Likely pathogenic Pyridoxal phosphate-responsive seizures
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16615426 rs_780977054

2 SubmittersRCV000468236RCV000992669
NM_018129.4(PNPO):c.767A>G (p.Tyr256Cys) SNV
Germline		 Chr17:47946763 Conflicting classifications of pathogenicity Pyridoxal phosphate-responsive seizures
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8629276 rs_148784343

2 SubmittersRCV000537828RCV002404482
NM_018129.4(PNPO):c.16C>A (p.Arg6=) SNV
Germline		 Chr17:47941691 Conflicting classifications of pathogenicity Pyridoxal phosphate-responsive seizures
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA291293046 rs_765997859

3 SubmittersRCV001127768RCV002314430
NM_018129.4(PNPO):c.657G>A (p.Trp219Ter) SNV
Germline		 Chr17:47946653 Pathogenic/Likely pathogenic Pyridoxal phosphate-responsive seizures
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA8629264 rs_776248931

4 SubmittersRCV000815032RCV002372295RCV003332263
NM_018129.4(PNPO):c.284G>A (p.Arg95His) SNV
Germline		 Chr17:47944636 Pathogenic Pyridoxal phosphate-responsive seizures Criteria Provided
Multiple Submitters
No Conflicts
 CA8629143 rs_552833222

2 SubmittersRCV001053333
NM_018129.4(PNPO):c.413G>A (p.Arg138His) SNV
Germline		 Chr17:47945608 Conflicting classifications of pathogenicity Pyridoxal phosphate-responsive seizures
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8629176 rs_764940495

5 SubmittersRCV001037490RCV001547187
NM_018129.4(PNPO):c.549T>C (p.Tyr183=) SNV
Germline		 Chr17:47946325 Conflicting classifications of pathogenicity Pyridoxal phosphate-responsive seizures Criteria Provided
Conflicting Classifications
 CA500453192 rs_2036008214

2 SubmittersRCV001121984
NM_018129.4(PNPO):c.482G>A (p.Arg161His) SNV
Germline		 Chr17:47945925 Conflicting classifications of pathogenicity Pyridoxal phosphate-responsive seizures
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8629205 rs_770981773

4 SubmittersRCV001368622RCV004692656
NM_018129.4(PNPO):c.283C>T (p.Arg95Cys) SNV
Germline		 Chr17:47944635 Pathogenic/Likely pathogenic Pyridoxal phosphate-responsive seizures Criteria Provided
Multiple Submitters
No Conflicts
 CA400056949 rs_1483600034

2 SubmittersRCV001724755
NM_018129.4(PNPO):c.178A>T (p.Lys60Ter) SNV
Germline		 Chr17:47943345 Pathogenic Pyridoxal phosphate-responsive seizures Criteria Provided
Multiple Submitters
No Conflicts
 CA8629119 rs_751477334

2 SubmittersRCV001784863
NM_018129.4(PNPO):c.637C>T (p.Pro213Ser) SNV
Germline		 Chr17:47946633 Likely pathogenic Pyridoxal phosphate-responsive seizures Criteria Provided
Single Submitter
 rs_2144166583

1 SubmittersRCV005431268
NM_018129.4(PNPO):c.263+1G>C SNV
Germline		 Chr17:47943431 Pathogenic Pyridoxal phosphate-responsive seizures Criteria Provided
Single Submitter
 CA291294413 rs_895303255

1 SubmittersRCV001923175
NM_018129.4(PNPO):c.346C>T (p.Arg116Ter) SNV
Germline		 Chr17:47944698 Pathogenic Pyridoxal phosphate-responsive seizures Criteria Provided
Single Submitter
 CA8629153 rs_148839273

1 SubmittersRCV001999922
NM_018129.4(PNPO):c.418-1G>C SNV
Germline		 Chr17:47945860 Likely pathogenic Pyridoxal phosphate-responsive seizures Criteria Provided
Single Submitter
 CA400058427 rs_2144165139

1 SubmittersRCV002266772
NM_018129.4(PNPO):c.546+1G>A SNV
Germline		 Chr17:47945990 Pathogenic Pyridoxal phosphate-responsive seizures No Assertion Criteria Provided
 CA400059706 rs_2509293643

1 SubmittersRCV002281630
NM_018129.4(PNPO):c.363+5G>A SNV
Germline		 Chr17:47944720 Likely pathogenic Pyridoxal phosphate-responsive seizures Criteria Provided
Multiple Submitters
No Conflicts
 CA8629156 rs_766037058

2 SubmittersRCV004798969
NM_018129.4(PNPO):c.421C>T (p.Arg141Cys) SNV
Germline		 Chr17:47945864 Conflicting classifications of pathogenicity Pyridoxal phosphate-responsive seizures
not specified		 Criteria Provided
Conflicting Classifications
 CA8629191 rs_776630880

3 SubmittersRCV003041314RCV004587416
NM_018129.4(PNPO):c.352G>A (p.Gly118Arg) SNV
Germline		 Chr17:47944704 Likely pathogenic Pyridoxal phosphate-responsive seizures Criteria Provided
Single Submitter
 CA400057365 rs_2509291965

1 SubmittersRCV003508872
NM_018129.4(PNPO):c.547-1G>A SNV
Germline		 Chr17:47946322 Likely pathogenic Pyridoxal phosphate-responsive seizures Criteria Provided
Single Submitter
 CA291296851 rs_887046625

1 SubmittersRCV003616144
NM_018129.4(PNPO):c.138+1G>A SNV
Germline		 Chr17:47941814 Likely pathogenic Pyridoxal phosphate-responsive seizures Criteria Provided
Single Submitter
 CA400055211 rs_2509287507

1 SubmittersRCV003616404
NM_018129.4(PNPO):c.412C>T (p.Arg138Cys) SNV
Germline		 Chr17:47945607 Pathogenic Pyridoxal phosphate-responsive seizures Criteria Provided
Single Submitter
 CA400058173 rs_1310951750

1 SubmittersRCV003617214
NM_018129.4(PNPO):c.123C>A (p.Tyr41Ter) SNV
Germline		 Chr17:47941798 Pathogenic Pyridoxal phosphate-responsive seizures Criteria Provided
Single Submitter

1 SubmittersRCV005072878
NM_018129.4(PNPO):c.364-1G>C SNV
Germline		 Chr17:47945558 Pathogenic Pyridoxal phosphate-responsive seizures Criteria Provided
Single Submitter

1 SubmittersRCV005178437
NM_018129.4(PNPO):c.481C>G (p.Arg161Gly) SNV
Germline		 Chr17:47945924 Conflicting classifications of pathogenicity Pyridoxal phosphate-responsive seizures
not specified		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005179315RCV005241119