Total 24 pathogenic variants reported for Congenital diarrhea 5 with tufting enteropathy

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_002354.3(EPCAM):c.491+1G>A	SNV Germline	Chr2:47375300	Pathogenic	Congenital diarrhea 5 with tufting enteropathy Gastric cancer Hereditary cancer-predisposing syndrome Condition: not provided Colon adenocarcinoma Uterine corpus endometrial carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA122699	rs_606231203	6 SubmittersRCV000013609 RCV003162250 RCV004018623 RCV004794337 RCV005887487 RCV005887488
NM_002354.3(EPCAM):c.197G>A (p.Cys66Tyr)	SNV Germline	Chr2:47373820	Pathogenic	Congenital diarrhea 5 with tufting enteropathy	No Assertion Criteria Provided	CA122700	rs_267606785	1 SubmittersRCV000013611
NM_002354.3(EPCAM):c.412C>T (p.Arg138Ter)	SNV Germline	Chr2:47374035	Pathogenic	Congenital diarrhea 5 with tufting enteropathy Gastric cancer	Criteria Provided Single Submitter	CA130806	rs_397514661	3 SubmittersRCV000033250 RCV003162287
NM_002354.3(EPCAM):c.556-14A>G	SNV Germline	Chr2:47378939	Pathogenic/Likely pathogenic	Congenital diarrhea 5 with tufting enteropathy Congenital diarrhea 5 with tufting enteropathy Lynch syndrome 8 EPCAM-related disorder Condition: not provided Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA171016	rs_376155665	16 SubmittersRCV000144936 RCV000763487 RCV004751287 RCV003654209 RCV005359310
NM_002354.3(EPCAM):c.492-2A>G	SNV Germline	Chr2:47377012	Pathogenic	Congenital diarrhea 5 with tufting enteropathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA171017	rs_606231281	3 SubmittersRCV000144937 RCV000519022
NM_002354.3(EPCAM):c.518G>A (p.Arg173His)	SNV Germline	Chr2:47377040	Conflicting classifications of pathogenicity	Condition: not provided Congenital diarrhea 5 with tufting enteropathy	Criteria Provided Conflicting Classifications	CA337460	rs_771569331	3 SubmittersRCV005090016 RCV004720246
NM_002354.3(EPCAM):c.265C>T (p.Gln89Ter)	SNV Germline	Chr2:47373888	Pathogenic	Congenital diarrhea 5 with tufting enteropathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA346722981	rs_1324088403	2 SubmittersRCV000984490 RCV001784480
NM_002354.3(EPCAM):c.13C>T (p.Gln5Ter)	SNV Germline	Chr2:47369518	Pathogenic/Likely pathogenic	Congenital diarrhea 5 with tufting enteropathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA1648804	rs_747738988	3 SubmittersRCV001250162 RCV002291739
NM_002354.3(EPCAM):c.439G>T (p.Glu147Ter)	SNV Germline	Chr2:47375247	Likely pathogenic	Congenital diarrhea 5 with tufting enteropathy	Criteria Provided Single Submitter	CA346723557	rs_987919056	1 SubmittersRCV001250163
NM_002354.3(EPCAM):c.224G>A (p.Gly75Asp)	SNV Germline	Chr2:47373847	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Congenital diarrhea 5 with tufting enteropathy Lynch syndrome 8 Lynch syndrome 8	Criteria Provided Conflicting Classifications	CA1648929	rs_749805135	3 SubmittersRCV002428449 RCV004796732 RCV005601910
NM_002354.3(EPCAM):c.377G>A (p.Arg126Lys)	SNV Germline	Chr2:47374000	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Congenital diarrhea 5 with tufting enteropathy	Criteria Provided Conflicting Classifications	CA346723392	rs_2103747843	2 SubmittersRCV003310337 RCV004999912
NM_002354.3(EPCAM):c.227C>G (p.Ser76Ter)	SNV Germline	Chr2:47373850	Pathogenic	Congenital diarrhea 5 with tufting enteropathy	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005000538
NM_002354.3(EPCAM):c.589C>T (p.Gln197Ter)	SNV Germline	Chr2:47378986	Pathogenic	Congenital diarrhea 5 with tufting enteropathy	Criteria Provided Single Submitter			1 SubmittersRCV005000541
NM_002354.3(EPCAM):c.347G>A (p.Cys116Tyr)	SNV Germline	Chr2:47373970	Conflicting classifications of pathogenicity	Condition: not provided Congenital diarrhea 5 with tufting enteropathy	Criteria Provided Conflicting Classifications			2 SubmittersRCV004761608 RCV005230787
NM_002354.3(EPCAM):c.610C>T (p.Gln204Ter)	SNV Germline	Chr2:47379007	Likely pathogenic	Congenital diarrhea 5 with tufting enteropathy	Criteria Provided Single Submitter			1 SubmittersRCV004785921