Total 38 pathogenic variants reported for Variegate porphyria 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001122764.3(PPOX):c.694G>C (p.Gly232Arg) SNV
Germline		 Chr1:161169070 Pathogenic Variegate porphyria
Condition: not provided		 Criteria Provided
Single Submitter
 CA280980 rs_121918323

2 SubmittersRCV000009230RCV000816933
NM_001122764.3(PPOX):c.502C>T (p.Arg168Cys) SNV
Germline		 Chr1:161168462 Pathogenic/Likely pathogenic Variegate porphyria
Variegate porphyria, childhood-onset		 No Assertion Criteria Provided
 CA280982 rs_121918325

2 SubmittersRCV000009231RCV003324488
NM_001122764.3(PPOX):c.59A>C (p.His20Pro) SNV
Germline		 Chr1:161166906 Pathogenic Variegate porphyria No Assertion Criteria Provided
 CA280984 rs_121918326

1 SubmittersRCV000009232
NM_001122764.3(PPOX):c.175C>T (p.Arg59Trp) SNV
Germline		 Chr1:161167187 Pathogenic Variegate porphyria
Condition: not provided
Variegate porphyria, childhood-onset		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340813 rs_121918324

4 SubmittersRCV000009233RCV001232723RCV003324489
NM_001122764.3(PPOX):c.503G>A (p.Arg168His) SNV
Germline		 Chr1:161168463 Pathogenic/Likely pathogenic Variegate porphyria
Condition: not provided
See cases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA280986 rs_41270025

7 SubmittersRCV000009234RCV000492944RCV002251893
NM_001122764.3(PPOX):c.1046A>C (p.Asp349Ala) SNV
Germline		 Chr1:161170467 Pathogenic Variegate porphyria, childhood-onset No Assertion Criteria Provided
 CA119840 rs_28936676

1 SubmittersRCV003324490
NM_001122764.3(PPOX):c.35T>C (p.Ile12Thr) SNV
Germline		 Chr1:161166882 Pathogenic Variegate porphyria
Variegate porphyria, childhood-onset		 No Assertion Criteria Provided
 CA119842 rs_28936677

1 SubmittersRCV003324494RCV003324495
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg) SNV
Germline		 Chr1:161169143 Conflicting classifications of pathogenicity Condition: not provided
Variegate porphyria
Variegate porphyria, childhood-onset
PPOX-related disorder		 Criteria Provided
Conflicting Classifications
 CA119844 rs_12735723

11 SubmittersRCV000961007RCV000986448RCV003324496RCV003924820
NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln) SNV
Germline		 Chr2:219217782 Conflicting classifications of pathogenicity Microphthalmia, isolated, with coloboma 7
Protoporphyria, erythropoietic, 1
Condition: not provided
Variegate porphyria
Acute intermittent porphyria
ABCB6-related disorder		 Criteria Provided
Conflicting Classifications
 CA145194 rs_150221689

12 SubmittersRCV000059344RCV001731356RCV001699031RCV001731358RCV001731357RCV003974948
NM_001122764.3(PPOX):c.-246G>T SNV
Germline		 Chr1:161166435 Conflicting classifications of pathogenicity Variegate porphyria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10608138 rs_114493458

4 SubmittersRCV000344696RCV000936874
NM_001122764.3(PPOX):c.-1C>T SNV
Germline		 Chr1:161166847 Conflicting classifications of pathogenicity Variegate porphyria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1206999 rs_148045152

2 SubmittersRCV000259372RCV006439956
NM_001122764.3(PPOX):c.87+13C>T SNV
Germline		 Chr1:161166947 Conflicting classifications of pathogenicity Variegate porphyria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1207026 rs_201155115

2 SubmittersRCV000360040RCV002059341
NM_001122764.3(PPOX):c.360C>T (p.Pro120=) SNV
Germline		 Chr1:161168016 Conflicting classifications of pathogenicity Variegate porphyria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1207129 rs_148730591

2 SubmittersRCV000320517RCV000891857
NM_001122764.3(PPOX):c.617-6C>T SNV
Germline		 Chr1:161168987 Conflicting classifications of pathogenicity Variegate porphyria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1207208 rs_200192089

2 SubmittersRCV000326243RCV000899662
NM_001122764.3(PPOX):c.936G>A (p.Val312=) SNV
Germline		 Chr1:161169973 Conflicting classifications of pathogenicity Variegate porphyria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1207295 rs_751511778

2 SubmittersRCV000332321RCV003727643
NM_001122764.3(PPOX):c.1062T>C (p.Pro354=) SNV
Germline		 Chr1:161170483 Conflicting classifications of pathogenicity Variegate porphyria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1207334 rs_771215757

2 SubmittersRCV000386827RCV003765707
NM_001122764.3(PPOX):c.1248+4A>G SNV
Germline		 Chr1:161170773 Conflicting classifications of pathogenicity Variegate porphyria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA1207383 rs_775748399

2 SubmittersRCV000338262RCV003727644
NM_001122764.3(PPOX):c.844G>A (p.Val282Ile) SNV
Germline		 Chr1:161169696 Conflicting classifications of pathogenicity Variegate porphyria
Condition: not provided
Variegate porphyria, childhood-onset
Variegate porphyria
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA1207271 rs_145286580

4 SubmittersRCV001098798RCV001856338RCV005047306RCV005262249
NM_001122764.3(PPOX):c.1072G>A (p.Gly358Arg) SNV
Germline		 Chr1:161170493 Conflicting classifications of pathogenicity Variegate porphyria
Condition: not provided
Variegate porphyria, childhood-onset		 Criteria Provided
Conflicting Classifications
 CA1207340 rs_374936130

4 SubmittersRCV001169976RCV001339128RCV003328475
NM_001122764.3(PPOX):c.1291+1G>T SNV
Germline		 Chr1:161170950 Likely pathogenic Variegate porphyria No Assertion Criteria Provided
 CA343358840 rs_1571418365

1 SubmittersRCV001253784
NM_005689.4(ABCB6):c.1762G>A (p.Gly588Ser) SNV
Germline		 Chr2:219213284 Conflicting classifications of pathogenicity Condition: not provided
Protoporphyria, erythropoietic, 1
Variegate porphyria
Acute intermittent porphyria
Hereditary coproporphyria		 Criteria Provided
Conflicting Classifications
 CA2119237 rs_145526996

7 SubmittersRCV001700536RCV001732227RCV001732229RCV001732228RCV001732230
NM_001122764.3(PPOX):c.1296A>G (p.Ser432=) SNV
Germline		 Chr1:161171038 Conflicting classifications of pathogenicity Condition: not provided
Variegate porphyria		 Criteria Provided
Conflicting Classifications
 CA421403820 rs_1661206662

2 SubmittersRCV002194263RCV002243528
NM_001122764.3(PPOX):c.338G>C (p.Arg113Thr) SNV
Unknown		 Chr1:161167486 Pathogenic Variegate porphyria No Assertion Criteria Provided
 CA343352988 rs_2525204882

1 SubmittersRCV002281665
NM_001122764.3(PPOX):c.506G>A (p.Gly169Glu) SNV
Germline		 Chr1:161168466 Pathogenic Variegate porphyria, childhood-onset No Assertion Criteria Provided
 CA343353790 rs_2525249140

1 SubmittersRCV003324652
NM_001122764.3(PPOX):c.1043A>G (p.Tyr348Cys) SNV
Germline		 Chr1:161170464 Pathogenic Variegate porphyria, childhood-onset No Assertion Criteria Provided
 CA31636858 rs_900431442

1 SubmittersRCV003324654
NM_001122764.3(PPOX):c.413G>C (p.Arg138Pro) SNV
Germline		 Chr1:161168069 Pathogenic Variegate porphyria, childhood-onset No Assertion Criteria Provided
 CA1207140 rs_767419411

1 SubmittersRCV003324655
NM_001122764.3(PPOX):c.808G>T (p.Val270Leu) SNV
Germline		 Chr1:161169660 Pathogenic Variegate porphyria, childhood-onset No Assertion Criteria Provided
 CA343355879 rs_2525294446

1 SubmittersRCV003324656
NM_001122764.3(PPOX):c.87+1G>A SNV
Germline		 Chr1:161166935 Likely pathogenic Variegate porphyria Criteria Provided
Single Submitter
 CA343350796 rs_1659156571

1 SubmittersRCV003993553
NM_001122764.3(PPOX):c.164A>C (p.Glu55Ala) SNV
Germline		 Chr1:161167176 Conflicting classifications of pathogenicity Condition: not provided
Variegate porphyria, childhood-onset		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV004793920RCV006605422
NM_001122764.3(PPOX):c.1123C>T (p.Gln375Ter) SNV
Germline		 Chr1:161170644 Likely pathogenic Variegate porphyria Criteria Provided
Single Submitter

1 SubmittersRCV005252020
NM_001122764.3(PPOX):c.917T>C (p.Leu306Pro) SNV
Germline		 Chr1:161169954 Likely pathogenic Variegate porphyria Criteria Provided
Single Submitter

1 SubmittersRCV006267665