Total 9 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.596C>T (p.Ser199Leu)	SNV Germline	Chr1:207326769	Pathogenic	CROMER BLOOD GROUP SYSTEM, Dr(a-) PHENOTYPE Protein-losing enteropathy	Criteria Provided Single Submitter	CA344516965	rs_1135402914	2 SubmittersRCV000497258 RCV004999542
NM_000574.5(CD55):c.800G>C (p.Cys267Ser)	SNV Germline	Chr1:207331243	Pathogenic	Protein-losing enteropathy	Criteria Provided Single Submitter	CA344518053	rs_1135402917	2 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 SubmittersRCV001377388 RCV002499775
NM_000574.5(CD55):c.148G>T (p.Glu50Ter)	SNV Germline	Chr1:207322429	Pathogenic/Likely pathogenic	Protein-losing enteropathy	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003989924
NM_000574.5(CD55):c.98G>A (p.Trp33Ter)	SNV Germline	Chr1:207321863	Pathogenic	Protein-losing enteropathy	Criteria Provided Single Submitter			1 SubmittersRCV004698911