Total 24 pathogenic variants reported for Cutaneous porphyria 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000375.3(UROS):c.217T>C (p.Cys73Arg) SNV
Germline		 Chr10:125815061 Pathogenic Cutaneous porphyria
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA340118 rs_121908012

8 SubmittersRCV000003948RCV000726590
NM_000375.3(UROS):c.158C>T (p.Pro53Leu) SNV
Germline		 Chr10:125815120 Pathogenic Cutaneous porphyria No Assertion Criteria Provided
 CA252864 rs_121908013

1 SubmittersRCV000003949
NM_000375.3(UROS):c.197C>T (p.Ala66Val) SNV
Germline		 Chr10:125815081 Pathogenic Cutaneous porphyria No Assertion Criteria Provided
 CA340119 rs_28941774

2 SubmittersRCV000003950
NM_000375.3(UROS):c.184A>G (p.Thr62Ala) SNV
Germline		 Chr10:125815094 Pathogenic Cutaneous porphyria No Assertion Criteria Provided
 CA252865 rs_28941775

1 SubmittersRCV000003951
NM_000375.3(UROS):c.683C>T (p.Thr228Met) SNV
Germline		 Chr10:125788983 Conflicting classifications of pathogenicity Cutaneous porphyria
Condition: not provided
UROS-related disorder		 Criteria Provided
Conflicting Classifications
 CA252866 rs_121908014

4 SubmittersRCV000003952RCV001851631RCV003407267
NM_000375.3(UROS):c.10C>T (p.Leu4Phe) SNV
Germline		 Chr10:125816490 Pathogenic Cutaneous porphyria
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA252867 rs_121908015

3 SubmittersRCV000003953RCV001851632
NM_000375.3(UROS):c.562G>A (p.Gly188Arg) SNV
Germline		 Chr10:125794978 Pathogenic Cutaneous porphyria No Assertion Criteria Provided
 CA252869 rs_121908017

1 SubmittersRCV000003957
NM_000375.3(UROS):c.243A>T (p.Glu81Asp) SNV
Germline		 Chr10:125815035 Pathogenic Cutaneous porphyria No Assertion Criteria Provided
 CA252870 rs_121908018

1 SubmittersRCV000003958
NM_000375.3(UROS):c.562G>T (p.Gly188Trp) SNV
Germline		 Chr10:125794978 Pathogenic Cutaneous porphyria No Assertion Criteria Provided
 CA252872 rs_121908017

1 SubmittersRCV000003959
NM_000375.3(UROS):c.-203T>C SNV
Germline		 Chr10:125823205 Pathogenic Cutaneous porphyria No Assertion Criteria Provided
 CA340121 rs_1554891988

2 SubmittersRCV000003960
NM_000375.3(UROS):c.-26-183G>A SNV
Germline		 Chr10:125816708 Pathogenic Cutaneous porphyria
Condition: not provided		 Criteria Provided
Single Submitter
 CA340122 rs_397515349

3 SubmittersRCV000003961RCV001851633
NM_000375.3(UROS):c.-26-193C>A SNV
Germline		 Chr10:125816718 Pathogenic Cutaneous porphyria
Condition: not provided		 Criteria Provided
Single Submitter
 CA340123 rs_397515350

2 SubmittersRCV000003962RCV001851634
NM_000375.3(UROS):c.-26-197C>A SNV
Germline		 Chr10:125816722 Pathogenic Cutaneous porphyria No Assertion Criteria Provided
 CA340124 rs_397515351

2 SubmittersRCV000003963
NM_000375.3(UROS):c.673G>A (p.Gly225Ser) SNV
Germline		 Chr10:125788993 Pathogenic Cutaneous porphyria
Condition: not provided		 Criteria Provided
Single Submitter
 CA340125 rs_121908020

3 SubmittersRCV000003964RCV001851635
NM_000375.3(UROS):c.63+1G>A SNV
Germline		 Chr10:125816436 Pathogenic/Likely pathogenic Cutaneous porphyria
Condition: not provided
UROS-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA252874 rs_373864821

3 SubmittersRCV000003965RCV001851636RCV003407268
NM_000375.3(UROS):c.743C>A (p.Pro248Gln) SNV
Germline		 Chr10:125788923 Pathogenic Cutaneous porphyria No Assertion Criteria Provided
 CA252876 rs_121908021

1 SubmittersRCV000003967
NM_000375.3(UROS):c.661-31T>G SNV
Germline		 Chr10:125789036 Pathogenic Cutaneous porphyria No Assertion Criteria Provided
 rs_750180293

1 SubmittersRCV000023601
NM_002049.4(GATA1):c.646C>T (p.Arg216Trp) SNV
Germline		 ChrX:48792370 Likely pathogenic Beta-thalassemia-X-linked thrombocytopenia syndrome
Cutaneous porphyria
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
Condition: not provided
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
GATA1-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA342811 rs_387907207

5 SubmittersRCV000024620RCV001725115RCV001542264RCV002281045RCV003989300RCV003398569
NM_000375.3(UROS):c.512T>C (p.Val171Ala) SNV
Germline		 Chr10:125796152 Conflicting classifications of pathogenicity Cutaneous porphyria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5738415 rs_17173752

3 SubmittersRCV000371466RCV001357209
NM_000375.3(UROS):c.475+14T>A SNV
Germline		 Chr10:125798051 Conflicting classifications of pathogenicity Cutaneous porphyria
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5738440 rs_17425877

2 SubmittersRCV000279431RCV002059529
NM_000375.3(UROS):c.56A>G (p.Tyr19Cys) SNV
Germline		 Chr10:125816444 Pathogenic Cutaneous porphyria Criteria Provided
Single Submitter
 rs_1590007244

1 SubmittersRCV000856826
NM_000375.3(UROS):c.63+8G>A SNV
Germline		 Chr10:125816429 Conflicting classifications of pathogenicity Condition: not provided
Cutaneous porphyria		 Criteria Provided
Conflicting Classifications
 rs_17153575

3 SubmittersRCV000886009RCV001106470
NM_000375.3(UROS):c.7G>T (p.Val3Phe) SNV
Germline		 Chr10:125816493 Likely pathogenic Condition: not provided
Cutaneous porphyria		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_773301339

2 SubmittersRCV001377883RCV003314006