Total 7 pathogenic variants reported for Protein-losing enteropathy 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000574.5(CD55):c.800G>C (p.Cys267Ser) SNV
Germline		 Chr1:207331243 Pathogenic Protein-losing enteropathy No Assertion Criteria Provided
 CA344518053 rs_1135402917

1 SubmittersRCV004577336
NM_000574.5(CD55):c.287-1G>A SNV
Germline		 Chr1:207324558 Pathogenic Protein-losing enteropathy No Assertion Criteria Provided
 CA344516022 rs_1135402918

1 SubmittersRCV004577337
NM_000574.5(CD55):c.286+2T>G SNV
Germline		 Chr1:207322569 Likely pathogenic Condition: not provided
Protein-losing enteropathy
Cromer blood group system		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_752360687

2 SubmittersRCV001377388RCV002499775
NM_000574.5(CD55):c.148G>T (p.Glu50Ter) SNV
Germline		 Chr1:207322429 Likely pathogenic Protein-losing enteropathy Criteria Provided
Single Submitter

1 SubmittersRCV003989924